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Orphanet Journal of Rare Diseases

ISSN: 1750--1172
Publisher: BioMed Central


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Classification of rare diseases: a worldwide effort to contribute to the International Classification of Diseases

Author(s): Rath Ana | Aymé Ségolène | Bellet Bertrand
Volume: 5
Issue: Suppl 1
Year: 2010
Comparative demographics of the European Cystic Fibrosis population: does EU membership confer an advantage?

Author(s): Mehta Anil | McCormick Jonathan | Macek Milan
Volume: 5
Issue: Suppl 1
Year: 2010
State of the art of services in Europe: where are the problems?

Author(s): Aymé Ségolène
Volume: 5
Issue: Suppl 1
Year: 2010
Cross-border genetic testing

Author(s): Barton David
Volume: 5
Issue: Suppl 1
Year: 2010
Predictors of orphan drug approval

Author(s): Heemstra Harald
Volume: 5
Issue: Suppl 1
Year: 2010
Health technology assessment: oncology drugs with orphan designation as an example

Author(s): Wild Claudia
Volume: 5
Issue: Suppl 1
Year: 2010
Determinants for research on rare diseases

Author(s): Palau Francesc
Volume: 5
Issue: Suppl 1
Year: 2010
The European research area network – E-Rare

Author(s): Koutouzov Sophie
Volume: 5
Issue: Suppl 1
Year: 2010
DYSCERNE: a European Network of Centres of Expertise for Dysmorphology

Author(s): Chrzanowska Krystyna | Clayton-Smith Jill | Day Ruth | Griffiths Pamela
Volume: 5
Issue: Suppl 1
Year: 2010
Cell therapies for Duchenne muscular dystrophy: some ethical issues for personalised medicines

Author(s): McCormack Pauline
Volume: 5
Issue: Suppl 1
Year: 2010
Cystic Fibrosis in Europe - remote measurement of outcome

Author(s): Mehta Anil | Mehta Gita | Macek Milan
Volume: 5
Issue: Suppl 1
Year: 2010
Rare diseases research in Europe: an overview based on data from the Orphanet database

Author(s): Martin Natalia | Doulet Nicolas | Hivert Virginie | Aymé Ségolène
Volume: 5
Issue: Suppl 1
Year: 2010
Genetic testing in Europe: transborder testing is a necessity

Author(s): Jovanovic Mariana | Dequeker Els | Desmet Lieve | Morris Michael | Cassiman Jean-Jacques | Aymé Ségolène
Volume: 5
Issue: Suppl 1
Year: 2010
EURORDIS Summer School for patient advocates in clinical trials and drug development

Author(s): Mavris Maria | Bignami Fabrizia
Volume: 5
Issue: Suppl 1
Year: 2010
Issues of management of Epidermolysis bullosa in Georgia

Author(s): Kvlividze Oleg | Chigladze Tamar | Tvaliashvili George | Galdava George
Volume: 5
Issue: Suppl 1
Year: 2010
APTIC: a social network to improve the quality of life of members of patients' associations

Author(s): Armayones Manuel | Hernández-Encuentra Eulàlia | Gómez-Zúñiga Beni | Guillamon Noemí | Ontiveros Gerardo | Bosque Ana | Nafría Begonya
Volume: 5
Issue: Suppl 1
Year: 2010
Evaluation of population newborn screening practices for rare disorders in member states of the European Union

Author(s): Vittozzi Luciano | Hoffmann Georg | Cornel Martina | Loeber Gerard
Volume: 5
Issue: Suppl 1
Year: 2010
New functionalities in Orphanet for orphan drugs, R&D and marketing authorisations to better serve the rare diseases community

Author(s): Hivert Virginie | Martin Natalia | Hanauer Marc | Aymé Ségolène
Volume: 5
Issue: Suppl 1
Year: 2010
The patients’ organisations of children with primary immunodeficiency in Poland

Author(s): Bernatowska Ewa | Pac Malgorzata | Marynowicz Dorota
Volume: 5
Issue: Suppl 1
Year: 2010
International registry: genetic and phenotypic characteristics of a heterogenous group of disorders

Author(s): Zeidler Cornelia | Pracht Gusal | Germeshausen Manuela | Welte Karl
Volume: 5
Issue: Suppl 1
Year: 2010
Wilson France: a national database for Wilson’s disease

Author(s): Trocello Jean-Marc
Volume: 5
Issue: Suppl 1
Year: 2010
DYSCERNE: developing clinical management guidelines for selected dysmorphic syndromes

Author(s): Griffiths Pam | Strong Kate | Gardner Sara | Day Ruth | Harrison Caroline | Bronwyn Kerr | Metcalfe Kay | Brunner Han | Donnai Dian | Dallapiccola Bruno | Devriendt Koenraad | Krajewska-Walasek Malgorzata | Philip Nicole | Clayton-Smith Jill
Volume: 5
Issue: Suppl 1
Year: 2010
European Project for Rare Diseases National Plans Development (EUROPLAN)

Author(s): Taruscio Domenica | Vittozzi Luciano
Volume: 5
Issue: Suppl 1
Year: 2010
EU Clinical trial regulation in the environment of rare diseases: time for a change

Author(s): Zimmermann Martine
Volume: 5
Issue: Suppl 1
Year: 2010
Evidence-based information guides to rare chromosome disorders for families and professionals

Author(s): Searle Beverly | Middlemiss Prisca | Wynn Sarah | Hulten Maj
Volume: 5
Issue: Suppl 1
Year: 2010
Aging among persons with invisible disorders: the importance of patient organisations

Author(s): Myrvang Vigdis | Thorsen Kirsten
Volume: 5
Issue: Suppl 1
Year: 2010
European Porphyria Network (EPNET) for information, epidemiological data, quality and equity of service

Author(s): Deybach Jean-Charles | Parker Samantha | Badmiton Mike | Sandberg Sverre
Volume: 5
Issue: Suppl 1
Year: 2010
Abilities of development support in children with genetic syndromes. Experiences from annual integrational meetings

Author(s): Midro Alina | Haus Olga | Kobel-Buys Krystyna | Wierzba Jolanta | Zajączek Stanisław
Volume: 5
Issue: Suppl 1
Year: 2010
Social profiles - a dialogue tool

Author(s): Jensen Lene | Holm Birthe
Volume: 5
Issue: Suppl 1
Year: 2010
E-learning for carers

Author(s): Solberg Olga | Miller Jeanette | Heivang Synne | Bjerke Mads
Volume: 5
Issue: Suppl 1
Year: 2010
Registry of Outcome Measures (ROM); tools supporting review and selection of outcome measures (OMs) for studies and trials

Author(s): Auld Joanne | Rose Michael | Seyedsadjadi Reza
Volume: 5
Issue: Suppl 1
Year: 2010
Orphandev, French Clinical Trials Network dedicated to Orphan drugs and therapeutics development for rare diseases

Author(s): Adjibi Yolande | Micallef Joëlle | Blin Olivier
Volume: 5
Issue: Suppl 1
Year: 2010
Primary Immunodeficiencies (PID): driving diagnosis for optimal care in Europe

Author(s): Czerniawska Marta | Modell Fred
Volume: 5
Issue: Suppl 1
Year: 2010
WHO International Classification of Diseases (ICD) Revision Process: incorporating rare diseases into the classification scheme: state of art

Author(s): Aymé Ségolène | Rath Ana | Bellet Bertrand
Volume: 5
Issue: Suppl 1
Year: 2010
Living with Progeria

Author(s): Stamsnijder Marjet
Volume: 5
Issue: Suppl 1
Year: 2010
French experience with rare diseases plans

Author(s): Le Henanff Guillaume | Tchernia Gil
Volume: 5
Issue: Suppl 1
Year: 2010
Building centres of expertise according to the Dutch model?

Author(s): Gabreëls Fons | Huizer Jolanda
Volume: 5
Issue: Suppl 1
Year: 2010
Individual plans and coordinated services: an empowering process

Author(s): Aksnes Stein
Volume: 5
Issue: Suppl 1
Year: 2010
The added value of centres of expertise for rare disease patients in Europe

Author(s): Kole Anna | le Cam Yann
Volume: 5
Issue: Suppl 1
Year: 2010
Cross-border health care represents a key issue in the field of rare diseases

Author(s): Facchin Paola
Volume: 5
Issue: Suppl 1
Year: 2010
Recommendations for the development of national plans for rare diseases

Author(s): Van der Zeijden Albert | Huizer Jolanda
Volume: 5
Issue: Suppl 1
Year: 2010
The Swedish rare disease information database and the Swedish information centre for rare diseases

Author(s): Greek-Winald Christina | Gustafsson Birgitta | Högvik Lisbeth
Volume: 5
Issue: Suppl 1
Year: 2010
Contribution of rare disease patient organisations to medical education

Author(s): von Gizycki Rainald
Volume: 5
Issue: Suppl 1
Year: 2010
The Epidermolysis bullosa house in Salzburg

Author(s): Pohla-Gubo Gabriela
Volume: 5
Issue: Suppl 1
Year: 2010
Very rare disorders - organisation of care

Author(s): Hennekam Raoul
Volume: 5
Issue: Suppl 1
Year: 2010
A "Family Project" to fight Usher, a rare disease leading to deaf-blindness

Author(s): Suchert Steffen
Volume: 5
Issue: Suppl 1
Year: 2010
The German plan for rare diseases: a development in progress

Author(s): Graf von der Schulenburg Johann
Volume: 5
Issue: Suppl 1
Year: 2010
Patient involvement and empowerment through the NPRD (Eastern Europe)

Author(s): Dan Dorica
Volume: 5
Issue: Suppl 1
Year: 2010
Cross-border healthcare? The Polish experience

Author(s): Sykut-Cegielska Jolanta
Volume: 5
Issue: Suppl 1
Year: 2010
Medical education: the role of patients

Author(s): Nourissier Christel
Volume: 5
Issue: Suppl 1
Year: 2010
EMP's first steps in the field of clinical trials

Author(s): Goossens Greetje
Volume: 5
Issue: Suppl 1
Year: 2010
Ageing in rare, chronic diseases

Author(s): Smit Cees
Volume: 5
Issue: Suppl 1
Year: 2010
At-Risk Phenotype of Neurofibromatose-1 Patients: A Multicentre Case-Control Study

Author(s): Sbidian Emilie | Bastuji-Garin Sylvie | Valeyrie-Allanore Laurence | Ferkal Salah | Lefaucheur Jean | Drouet Alain | Brugière Pierre | Vialette Cédric | Combemale Patrick | Barbarot Sébastien | Wolkenstein Pierre
Volume: 6
Issue: 1
Year: 2011
Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland

Author(s): Laitinen Eeva-Maria | Vaaralahti Kirsi | Tommiska Johanna | Eklund Elina | Tervaniemi Mari | Valanne Leena | Raivio Taneli
Volume: 6
Issue: 1
Year: 2011
Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *

Author(s): Lindner Martin | Gramer Gwendolyn | Haege Gisela | Fang-Hoffmann Junmin | Schwab Karl | Tacke Uta | Trefz Friedrich | Mengel Eugen | Wendel Udo | Leichsenring Michael | Burgard Peter | Hoffmann Georg
Volume: 6
Issue: 1
Year: 2011
Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

Author(s): Micale Lucia | Augello Bartolomeo | Fusco Carmela | Selicorni Angelo | Loviglio Maria | Silengo Margherita | Reymond Alexandre | Gumiero Barbara | Zucchetti Federica | D'Addetta Ester | Belligni Elga | Calcagnì Alessia | Digilio Maria | Dallapiccola Bruno | Faravelli Francesca | Forzano Francesca | Accadia Maria | Bonfante Aldo | Clementi Maurizio | Daolio Cecilia | Douzgou Sofia | Ferrari Paola | Fischetto Rita | Garavelli Livia | Lapi Elisabetta | Mattina Teresa | Melis Daniela | Patricelli Maria | Priolo Manuela | Prontera Paolo | Renieri Alessandra | Mencarelli Maria | Scarano Gioacchino | Monica Matteo | Toschi Benedetta | Turolla Licia | Vancini Alessandra | Zatterale Adriana | Gabrielli Orazio | Zelante Leopoldo | Merla Giuseppe
Volume: 6
Issue: 1
Year: 2011
Oxytocin may be useful to increase trust in others and decrease disruptive behaviours in patients with Prader-Willi syndrome: a randomised placebo-controlled trial in 24 patients

Author(s): Tauber Maïthe | Mantoulan Carine | Copet Pierre | Jauregui Joseba | Demeer Genevieve | Diene Gwenaëlle | Rogé Bernadette | Laurier Virginie | Ehlinger Virginie | Arnaud Catherine | Molinas Catherine | Thuilleaux Denise
Volume: 6
Issue: 1
Year: 2011
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

Author(s): Rohrbach Marianne | Vandersteen Anthony | Yiş Uluç | Serdaroglu Gul | Ataman Esra | Chopra Maya | Garcia Sixto | Jones Kristi | Kariminejad Ariana | Kraenzlin Marius | Marcelis Carlo | Baumgartner Matthias | Giunta Cecilia
Volume: 6
Issue: 1
Year: 2011
9q22 Deletion - First Familial Case

Author(s): Siggberg Linda | Peippo Maarit | Sipponen Marjatta | Miikkulainen Taina | Shimojima Keiko | Yamamoto Toshiyuki | Ignatius Jaakko | Knuutila Sakari
Volume: 6
Issue: 1
Year: 2011
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families

Author(s): Andreucci Elena | Aftimos Salim | Alcausin Melanie | Haan Eric | Hunter Warwick | Kannu Peter | Kerr Bronwyn | McGillivray George | Gardner RJ McKinlay | Patricelli Maria | Sillence David | Thompson Elizabeth | Zacharin Margaret | Zankl Andreas | Lamandé Shireen | Savarirayan Ravi
Volume: 6
Issue: 1
Year: 2011
Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy

Author(s): Güngör Deniz | de Vries Juna | Hop Wim | Reuser Arnold | van Doorn Pieter | van der Ploeg Ans | Hagemans Marloes
Volume: 6
Issue: 1
Year: 2011
"MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial

Author(s): ten Hoedt Amber | Hollak Carla | Boelen Carolien | van der Herberg-van de Wetering N Ada | ter Horst Nienke | Jonkers Cora | Wijburg Frits | Bosch Annet
Volume: 6
Issue: 1
Year: 2011
Pricing and reimbursement of orphan drugs: the need for more transparency

Author(s): Simoens Steven
Volume: 6
Issue: 1
Year: 2011
Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome)

Author(s): Valstar Marlies | Marchal Jan | Grootenhuis Martha | Colland Vivian | Wijburg Frits
Volume: 6
Issue: 1
Year: 2011
Congenital neutropenia: diagnosis, molecular bases and patient management

Author(s): Donadieu Jean | Fenneteau Odile | Beaupain Blandine | Mahlaoui Nizar | Chantelot Christine
Volume: 6
Issue: 1
Year: 2011
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome

Author(s): Mégarbané Hala | Mégarbané André
Volume: 6
Issue: 1
Year: 2011
Development of an ELISA for sensitive and specific detection of IgA autoantibodies against BP180 in pemphigoid diseases

Author(s): Csorba Kinga | Schmidt Sabine | Florea Florina | Ishii Norito | Hashimoto Takashi | Hertl Michael | Kárpáti Sarolta | Bruckner-Tuderman Leena | Nishie Wataru | Sitaru Cassian
Volume: 6
Issue: 1
Year: 2011
Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations

Author(s): Grossi Serena | Regis Stefano | Biancheri Roberta | Mort Matthew | Lualdi Susanna | Bertini Enrico | Uziel Graziella | Boespflug-Tanguy Odile | Simonati Alessandro | Corsolini Fabio | Demir Ercan | Marchiani Valentina | Percesepe Antonio | Stanzial Franco | Rossi Andrea | Vaurs-Barrière Catherine | Cooper David | Filocamo Mirella
Volume: 6
Issue: 1
Year: 2011
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

Author(s): Bonnet Crystel | Grati M'hamed | Marlin Sandrine | Levilliers Jacqueline | Hardelin Jean-Pierre | Parodi Marine | Niasme-Grare Magali | Zelenika Diana | Délépine Marc | Feldmann Delphine | Jonard Laurence | El-Amraoui Aziz | Weil Dominique | Delobel Bruno | Vincent Christophe | Dollfus Hélène | Eliot Marie-Madeleine | David Albert | Calais Catherine | Vigneron Jacqueline | Montaut-Verient Bettina | Bonneau Dominique | Dubin Jacques | Thauvin Christel | Duvillard Alain | Francannet Christine | Mom Thierry | Lacombe Didier | Duriez Françoise | Drouin-Garraud Valérie | Thuillier-Obstoy Marie-Françoise | Sigaudy Sabine | Frances Anne-Marie | Collignon Patrick | Challe Georges | Couderc Rémy | Lathrop Mark | Sahel José-Alain | Weissenbach Jean | Petit Christine | Denoyelle Françoise
Volume: 6
Issue: 1
Year: 2011
Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients

Author(s): Briguglio Marilena | Pinelli Lorenzo | Giordano Lucio | Ferraris Alessandro | Germanò Eva | Micheletti Serena | Severino Mariasavina | Bernardini Laura | Loddo Sara | Tortorella Gaetano | Ormitti Francesca | Gasparotti Roberto | Rossi Andrea | Valente Enza
Volume: 6
Issue: 1
Year: 2011
Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum

Author(s): Mahmood Saqib | Ahmad Wasim | Hassan Muhammad
Volume: 6
Issue: 1
Year: 2011
Machado-Joseph Disease: from first descriptions to new perspectives

Author(s): Bettencourt Conceição | Lima Manuela
Volume: 6
Issue: 1
Year: 2011
Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics

Author(s): Whaley Nathaniel | Fujioka Shinsuke | Wszolek Zbigniew
Volume: 6
Issue: 1
Year: 2011
A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patients

Author(s): Rall Katharina | Barresi Gianmaria | Walter Michael | Poths Sven | Haebig Karina | Schaeferhoff Karin | Schoenfisch Birgitt | Riess Olaf | Wallwiener Diethelm | Bonin Michael | Brucker Sara
Volume: 6
Issue: 1
Year: 2011
Epithelial thymic tumours in paediatric age: a report from the TREP project

Author(s): Carretto Elena | Inserra Alessandro | Ferrari Andrea | Conte Massimo | Di Cataldo Andrea | Migliorati Roberta | Cecchetto Giovanni | Bisogno Gianni
Volume: 6
Issue: 1
Year: 2011
Glucose-6-phosphatase deficiency

Author(s): Froissart Roseline | Piraud Monique | Boudjemline Alix | Vianey-Saban Christine | Petit François | Hubert-Buron Aurélie | Eberschweiler Pascale | Gajdos Vincent | Labrune Philippe
Volume: 6
Issue: 1
Year: 2011
Population pharmacokinetics and pharmacodynamics of hydroxyurea in sickle cell anemia patients, a basis for optimizing the dosing regimen

Author(s): Paule Ines | Sassi Hind | Habibi Anoosha | Pham Kim | Bachir Dora | Galactéros Frédéric | Girard Pascal | Hulin Anne | Tod Michel
Volume: 6
Issue: 1
Year: 2011
Safety and caregiver satisfaction with gastrostomy in patients with Ataxia Telangiectasia

Author(s): Lefton-Greif Maureen | Crawford Thomas | McGrath-Morrow Sharon | Carson Kathryn | Lederman Howard
Volume: 6
Issue: 1
Year: 2011
Congenitally corrected transposition

Author(s): Wallis Gonzalo | Debich-Spicer Diane | Anderson Robert
Volume: 6
Issue: 1
Year: 2011
X-linked disorders with cerebellar dysgenesis

Author(s): Zanni Ginevra | Bertini Enrico
Volume: 6
Issue: 1
Year: 2011
Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011

Author(s): Xue Yang | Cai Tao | Shi Songtao | Wang Weiguang | Zhang Yanli | Mao Tianqiu | Duan Xiaohong
Volume: 6
Issue: 1
Year: 2011
MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation

Author(s): Davison James | Davies Nigel | Wilson Martin | Sun Yu | Chakrapani Anupam | McKiernan Patrick | Walter John | Gissen P | Peet Andrew
Volume: 6
Issue: 1
Year: 2011
Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders

Author(s): Hollak Carla | Aerts Johannes | Aymé Ségolène | Manuel Jeremy
Volume: 6
Issue: 1
Year: 2011
Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome

Author(s): Roberti Maria | Surace Cecilia | Digilio Maria | D'Elia Gemma | Sirleto Pietro | Capolino Rossella | Lombardo Antonietta | Tomaiuolo Anna | Petrocchi Stefano | Angioni Adriano
Volume: 6
Issue: 1
Year: 2011
Mortality Associated with Neurofibromatosis 1: A Cohort Study of 1895 Patients in 1980-2006 in France

Author(s): Duong Tu | Sbidian Emilie | Valeyrie-Allanore Laurence | Vialette Cédric | Ferkal Salah | Hadj-Rabia Smaïl | Glorion Christophe | Lyonnet Stanislas | Zerah Michel | Kemlin Isabelle | Rodriguez Diana | Bastuji-Garin Sylvie | Wolkenstein Pierre
Volume: 6
Issue: 1
Year: 2011
Efficacy of alpha1-antitrypsin augmentation therapy in conditions other than pulmonary emphysema

Author(s): Blanco Ignacio | Lara Beatriz | de Serres Frederick
Volume: 6
Issue: 1
Year: 2011
Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children

Author(s): Cuoco Cristina | Ronchetto Patrizia | Gimelli Stefania | Béna Frédérique | Divizia Maria | Lerone Margherita | Mirabelli-Badenier Marisol | Mascaretti Monica | Gimelli Giorgio
Volume: 6
Issue: 1
Year: 2011
Evaluation of SHOX copy number variations in patients with Müllerian aplasia

Author(s): Sandbacka Maria | Halttunen Mervi | Jokimaa Varpu | Aittomäki Kristiina | Laivuori Hannele
Volume: 6
Issue: 1
Year: 2011
Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia

Author(s): Namavar Yasmin | Barth Peter | Poll-The Bwee | Baas Frank
Volume: 6
Issue: 1
Year: 2011
Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients

Author(s): Smid Bouwien | Rombach Saskia | Aerts Johannes | Kuiper Symen | Mirzaian Mina | Overkleeft Hermen | Poorthuis Ben | Hollak Carla | Groener Johanna | Linthorst Gabor
Volume: 6
Issue: 1
Year: 2011
Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests

Author(s): Andreotti Giuseppina | Citro Valentina | De Crescenzo Agostina | Orlando Pierangelo | Cammisa Marco | Correra Antonella | Cubellis Maria Vittoria
Volume: 6
Issue: 1
Year: 2011
Neuroacanthocytosis Syndromes

Author(s): Jung Hans | Danek Adrian | Walker Ruth
Volume: 6
Issue: 1
Year: 2011
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

Author(s): Garcia-Garcia Gema | Aparisi Maria | Jaijo Teresa | Rodrigo Regina | Leon Ana | Avila-Fernandez Almudena | Blanco-Kelly Fiona | Bernal Sara | Navarro Rafael | Diaz-Llopis Manuel | Baiget Montserrat | Ayuso Carmen | Millan Jose | Aller Elena
Volume: 6
Issue: 1
Year: 2011
Congenital hyperinsulinism: current trends in diagnosis and therapy

Author(s): Arnoux Jean-Baptiste | Verkarre Virginie | Saint-Martin Cécile | Montravers Françoise | Brassier Anaïs | Valayannopoulos Vassili | Brunelle Francis | Fournet Jean-Christophe | Robert Jean-Jacques | Aigrain Yves | Bellanné-Chantelot Christine | de Lonlay Pascale
Volume: 6
Issue: 1
Year: 2011
Population-based evaluation of a suggested anatomic and clinical classification of congenital heart defects based on the International Paediatric and Congenital Cardiac Code

Author(s): Houyel Lucile | Khoshnood Babak | Anderson Robert | Lelong Nathalie | Thieulin Anne-Claire | Goffinet François | Bonnet Damien
Volume: 6
Issue: 1
Year: 2011
Atypical hemolytic uremic syndrome

Author(s): Loirat Chantal | Frémeaux-Bacchi Véronique
Volume: 6
Issue: 1
Year: 2011
Estimating the budget impact of orphan medicines in Europe: 2010 - 2020

Author(s): Schey Carina | Milanova Tsveta | Hutchings Adam
Volume: 6
Issue: 1
Year: 2011
Reducing selection bias in case-control studies from rare disease registries

Author(s): Cole J Alexander | Taylor John | Hangartner Thomas | Weinreb Neal | Mistry Pramod | Khan Aneal
Volume: 6
Issue: 1
Year: 2011
Does market exclusivity hinder the development of Follow-on Orphan Medicinal Products in Europe?

Author(s): Brabers Anne | Moors Ellen | van Weely Sonja | de Vrueh Remco
Volume: 6
Issue: 1
Year: 2011
Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations

Author(s): Ravn Kirstine | Roende Gitte | Duno Morten | Fuglsang Kathrine | Eiklid Kristin | Tümer Zeynep | Nielsen Jytte | Skjeldal Ola
Volume: 6
Issue: 1
Year: 2011
Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure

Author(s): de Ru Minke | Boelens Jaap | Das Anibh | Jones Simon | van der Lee Johanna | Mahlaoui Nizar | Mengel Eugen | Offringa Martin | O'Meara Anne | Parini Rossella | Rovelli Attilio | Sykora Karl-Walter | Valayannopoulos Vassili | Vellodi Ashok | Wynn Robert | Wijburg Frits
Volume: 6
Issue: 1
Year: 2011
Awakening Australia to Rare Diseases: Symposium report and preliminary outcomes

Author(s): Dawkins Hugh | Molster Caron | Youngs Leanne | O'Leary Peter
Volume: 6
Issue: 1
Year: 2011
Gitelman syndrome

Author(s): Knoers Nine | Levtchenko Elena
Volume: 3
Issue: 1
Year: 2008
Alpha-mannosidosis

Author(s): Malm Dag | Nilssen Øivind
Volume: 3
Issue: 1
Year: 2008
Cluster headache

Author(s): Leroux Elizabeth | Ducros Anne
Volume: 3
Issue: 1
Year: 2008
Abetalipoproteinemia: two case reports and literature review

Author(s): Zamel Rola | Khan Razi | Pollex Rebecca | Hegele Robert
Volume: 3
Issue: 1
Year: 2008
Leopard syndrome

Author(s): Sarkozy Anna | Digilio Maria | Dallapiccola Bruno
Volume: 3
Issue: 1
Year: 2008
Congenital long QT syndrome

Author(s): Crotti Lia | Celano Giuseppe | Dagradi Federica | Schwartz Peter
Volume: 3
Issue: 1
Year: 2008
McCune-Albright syndrome

Author(s): Dumitrescu Claudia | Collins Michael
Volume: 3
Issue: 1
Year: 2008
Hereditary alpha-1-antitrypsin deficiency and its clinical consequences

Author(s): Fregonese Laura | Stolk Jan
Volume: 3
Issue: 1
Year: 2008
Brachydactyly

Author(s): Temtamy Samia | Aglan Mona
Volume: 3
Issue: 1
Year: 2008
The Greig cephalopolysyndactyly syndrome

Author(s): Biesecker Leslie
Volume: 3
Issue: 1
Year: 2008
Deletion 22q13.3 syndrome

Author(s): Phelan Mary
Volume: 3
Issue: 1
Year: 2008
Primary intestinal lymphangiectasia (Waldmann's disease)

Author(s): Vignes Stéphane | Bellanger Jérôme
Volume: 3
Issue: 1
Year: 2008
Hereditary sensory neuropathy type I

Author(s): Auer-Grumbach Michaela
Volume: 3
Issue: 1
Year: 2008
Idiopathic pulmonary fibrosis

Author(s): Meltzer Eric | Noble Paul
Volume: 3
Issue: 1
Year: 2008
Multiple osteochondromas

Author(s): Bovée Judith
Volume: 3
Issue: 1
Year: 2008
Syndromic (phenotypic) diarrhea in early infancy

Author(s): Goulet Olivier | Vinson Christine | Roquelaure Bertrand | Brousse Nicole | Bodemer Christine | Cézard Jean-Pierre
Volume: 3
Issue: 1
Year: 2008
Alstrom syndrome (OMIM 203800): a case report and literature review

Author(s): Joy Tisha | Cao Henian | Black Graeme | Malik Rayaz | Charlton-Menys Valentine | Hegele Robert | Durrington Paul
Volume: 2
Issue: 1
Year: 2007
Primary biliary cirrhosis

Author(s): Kumagi Teru | Heathcote E Jenny
Volume: 3
Issue: 1
Year: 2008
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

Author(s): Torres Rosa | Puig Juan
Volume: 2
Issue: 1
Year: 2007
Anophthalmia and microphthalmia

Author(s): Verma Amit | FitzPatrick David
Volume: 2
Issue: 1
Year: 2007
Myasthenia gravis

Author(s): Juel Vern | Massey Janice
Volume: 2
Issue: 1
Year: 2007
Oculocutaneous albinism

Author(s): Grønskov Karen | Ek Jakob | Brondum-Nielsen Karen
Volume: 2
Issue: 1
Year: 2007
Arrhythmogenic right ventricular cardiomyopathy/dysplasia

Author(s): Thiene Gaetano | Corrado Domenico | Basso Cristina
Volume: 2
Issue: 1
Year: 2007
Hypophosphatasia

Author(s): Mornet Etienne
Volume: 2
Issue: 1
Year: 2007
Sarcoidosis

Author(s): Nunes Hilario | Bouvry Diane | Soler Paul | Valeyre Dominique
Volume: 2
Issue: 1
Year: 2007
Mowat-Wilson syndrome

Author(s): Garavelli Livia | Mainardi Paola
Volume: 2
Issue: 1
Year: 2007
Aorto-ventricular tunnel

Author(s): McKay Roxane
Volume: 2
Issue: 1
Year: 2007
Hereditary sensory and autonomic neuropathies: types II, III, and IV

Author(s): Axelrod Felicia | Gold-von Simson Gabrielle
Volume: 2
Issue: 1
Year: 2007
Hypereosinophilic syndromes

Author(s): Roufosse Florence | Goldman Michel | Cogan Elie
Volume: 2
Issue: 1
Year: 2007
Sotos syndrome

Author(s): Baujat Geneviève | Cormier-Daire Valérie
Volume: 2
Issue: 1
Year: 2007
Acute graft versus host disease

Author(s): Jacobsohn David | Vogelsang Georgia
Volume: 2
Issue: 1
Year: 2007
Ehlers-Danlos syndrome type IV

Author(s): Germain Dominique
Volume: 2
Issue: 1
Year: 2007
Multi-minicore Disease

Author(s): Jungbluth Heinz
Volume: 2
Issue: 1
Year: 2007
Fibromuscular dysplasia

Author(s): Plouin Pierre-François | Perdu Jérôme | La Batide-Alanore Agnès | Boutouyrie Pierre | Gimenez-Roqueplo Anne-Paule | Jeunemaitre Xavier
Volume: 2
Issue: 1
Year: 2007
Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene

Author(s): Rosmorduc Olivier | Poupon Raoul
Volume: 2
Issue: 1
Year: 2007
Hypoplastic left heart syndrome

Author(s): Connor Jean | Thiagarajan Ravi
Volume: 2
Issue: 1
Year: 2007
Oesophageal atresia

Author(s): Spitz Lewis
Volume: 2
Issue: 1
Year: 2007
Ellis-Van Creveld syndrome

Author(s): Baujat Geneviève | Le Merrer Martine
Volume: 2
Issue: 1
Year: 2007
Malignant hyperthermia

Author(s): Rosenberg Henry | Davis Mark | James Danielle | Pollock Neil | Stowell Kathryn
Volume: 2
Issue: 1
Year: 2007
Paraneoplastic neurological syndromes

Author(s): Honnorat Jérôme | Antoine Jean-Christophe
Volume: 2
Issue: 1
Year: 2007
Cirrhotic cardiomyopathy

Author(s): Baik Soon | Fouad Tamer | Lee Samuel
Volume: 2
Issue: 1
Year: 2007
Neonatal diabetes mellitus: a disease linked to multiple mechanisms

Author(s): Polak Michel | Cavé Hélène
Volume: 2
Issue: 1
Year: 2007
Inborn errors in the metabolism of glutathione

Author(s): Ristoff Ellinor | Larsson Agne
Volume: 2
Issue: 1
Year: 2007
Cardiac tumours in children

Author(s): Uzun Orhan | Wilson Dirk | Vujanic Gordon | Parsons Jonathan | De Giovanni Joseph
Volume: 2
Issue: 1
Year: 2007
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome

Author(s): Morcel Karine | Camborieux Laure | Guerrier Daniel
Volume: 2
Issue: 1
Year: 2007
Health status of adults with Short Stature: A comparison with the normal population and one well-known chronic disease (Rheumatoid Arthritis)

Author(s): Johansen Heidi | Andresen Inger-Lise | Naess Eva | Hagen Kare
Volume: 2
Issue: 1
Year: 2007
Holoprosencephaly

Author(s): Dubourg Christèle | Bendavid Claude | Pasquier Laurent | Henry Catherine | Odent Sylvie | David Véronique
Volume: 2
Issue: 1
Year: 2007
Further phenotypic delineation of subtelomeric (terminal) 4q deletion with emphasis on intracranial and reproductive anatomy

Author(s): Sills Eric | Burns MJ | Parker Laurinda | Carroll Lisa | Kephart Lisa | Dyer CS | Papenhausen Peter | Davis Jessica
Volume: 2
Issue: 1
Year: 2007
Cone rod dystrophies

Author(s): Hamel Christian
Volume: 2
Issue: 1
Year: 2007
Noonan syndrome

Author(s): van der Burgt Ineke
Volume: 2
Issue: 1
Year: 2007
Essential thrombocythemia

Author(s): Brière Jean
Volume: 2
Issue: 1
Year: 2007
Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure

Author(s): Gruhn Bernd | Seidel Joerg | Zintl Felix | Varon Raymonda | Tönnies Holger | Neitzel Heidemarie | Bechtold Astrid | Hoehn Holger | Schindler Detlev
Volume: 2
Issue: 1
Year: 2007
Hereditary chronic pancreatitis

Author(s): Rosendahl Jonas | Bödeker Hans | Mössner Joachim | Teich Niels
Volume: 2
Issue: 1
Year: 2007
KBG syndrome

Author(s): Brancati Francesco | Sarkozy Anna | Dallapiccola Bruno
Volume: 1
Issue: 1
Year: 2006
Pheochromocytomas and secreting paragangliomas

Author(s): Plouin Pierre-François | Gimenez-Roqueplo Anne-Paule
Volume: 1
Issue: 1
Year: 2006
Multiple endocrine neoplasia type 2

Author(s): Marini Francesca | Falchetti Alberto | Del Monte Francesca | Carbonell Sala Silvia | Tognarini Isabella | Luzi Ettore | Brandi Maria
Volume: 1
Issue: 1
Year: 2006
Bernard-Soulier syndrome (Hemorrhagiparous thrombocytic dystrophy)

Author(s): Lanza François
Volume: 1
Issue: 1
Year: 2006
Mesothelioma mortality in Europe: impact of asbestos consumption and simian virus 40

Author(s): Leithner Katharina | Leithner Andreas | Clar Heimo | Weinhaeusel Andreas | Radl Roman | Krippl Peter | Rehak Peter | Windhager Reinhard | Haas Oskar | Olschewski Horst
Volume: 1
Issue: 1
Year: 2006
Autosomal recessive cerebellar ataxias

Author(s): Palau Francesc | Espinós Carmen
Volume: 1
Issue: 1
Year: 2006
Early onset torsion dystonia (Oppenheim's dystonia)

Author(s): Kamm Christoph
Volume: 1
Issue: 1
Year: 2006
Klinefelter syndrome and other sex chromosomal aneuploidies

Author(s): Visootsak Jeannie | Graham John
Volume: 1
Issue: 1
Year: 2006
Congenital pulmonary lymphangiectasia

Author(s): Bellini Carlo | Boccardo Francesco | Campisi Corradino | Bonioli Eugenio
Volume: 1
Issue: 1
Year: 2006
Retinitis pigmentosa

Author(s): Hamel Christian
Volume: 1
Issue: 1
Year: 2006
CHARGE syndrome

Author(s): Blake Kim | Prasad Chitra
Volume: 1
Issue: 1
Year: 2006
Multiple endocrine neoplasia type 1

Author(s): Marini Francesca | Falchetti Alberto | Monte Francesca | Sala Silvia | Gozzini Alessia | Luzi Ettore | Brandi Maria
Volume: 1
Issue: 1
Year: 2006
Cardiomyopathy, familial dilated

Author(s): Taylor Matthew | Carniel Elisa | Mestroni Luisa
Volume: 1
Issue: 1
Year: 2006
Biliary atresia

Author(s): Chardot Christophe
Volume: 1
Issue: 1
Year: 2006
Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)

Author(s): Wszolek Zbigniew | Tsuboi Yoshio | Ghetti Bernardino | Pickering-Brown Stuart | Baba Yasuhiko | Cheshire William
Volume: 1
Issue: 1
Year: 2006
Congenital Cataracts – Facial Dysmorphism – Neuropathy

Author(s): Kalaydjieva Luba
Volume: 1
Issue: 1
Year: 2006
Cri du Chat syndrome

Author(s): Cerruti Mainardi Paola
Volume: 1
Issue: 1
Year: 2006
Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia

Author(s): Girschick HJ | Schneider P | Haubitz I | Hiort O | Collmann H | Beer M | Shin YS | Seyberth HW
Volume: 1
Issue: 1
Year: 2006
Hypersensitivity pneumonitis

Author(s): Lacasse Yves | Cormier Yvon
Volume: 1
Issue: 1
Year: 2006
Premature ovarian failure

Author(s): Beck-Peccoz Paolo | Persani Luca
Volume: 1
Issue: 1
Year: 2006
Imerslund-Gräsbeck syndrome (selective vitamin B12 malabsorption with proteinuria)

Author(s): Gräsbeck Ralph
Volume: 1
Issue: 1
Year: 2006
Carney complex (CNC)

Author(s): Bertherat Jérôme
Volume: 1
Issue: 1
Year: 2006
Microvillous inclusion disease (microvillous atrophy)

Author(s): Ruemmele Frank | Schmitz Jacques | Goulet Olivier
Volume: 1
Issue: 1
Year: 2006
Kikuchi-Fujimoto disease

Author(s): Bosch Xavier | Guilabert Antonio
Volume: 1
Issue: 1
Year: 2006
Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome

Author(s): Haas Dorothea | Hoffmann Georg
Volume: 1
Issue: 1
Year: 2006
Solitary median maxillary central incisor (SMMCI) syndrome

Author(s): Hall Roger
Volume: 1
Issue: 1
Year: 2006
Idiopathic chronic eosinophilic pneumonia

Author(s): Marchand Eric | Cordier Jean-François
Volume: 1
Issue: 1
Year: 2006
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report

Author(s): Bedeschi Maria | Bianchi Vera | Gentilin Barbara | Colombo Lorenzo | Natacci Federica | Giglio Sabrina | Andreucci Elena | Trespidi Laura | Acaia Barbara | Furga Andrea | Lalatta Faustina
Volume: 6
Issue: 1
Year: 2011
Lack of a synergistic effect of a non-viral ALS gene therapy based on BDNF and a TTC fusion molecule

Author(s): Calvo Ana | Moreno-Igoa María | Mancuso Renzo | Manzano Raquel | Oliván Sara | Muñoz María | Penas Clara | Zaragoza Pilar | Navarro Xavier | Osta Rosario
Volume: 6
Issue: 1
Year: 2011
Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci

Author(s): Morcel Karine | Watrin Tanguy | Pasquier Laurent | Rochard Lucie | Le Caignec Cédric | Dubourg Christèle | Loget Philippe | Paniel Bernard-Jean | Odent Sylvie | David Véronique | Pellerin Isabelle | Bendavid Claude | Guerrier Daniel
Volume: 6
Issue: 1
Year: 2011
Mortality associated with neurofibromatosis type 1: A study based on Italian death certificates (1995-2006)

Author(s): Masocco Maria | Kodra Yllka | Vichi Monica | Conti Susanna | Kanieff Mark | Pace Monica | Frova Luisa | Taruscio Domenica
Volume: 6
Issue: 1
Year: 2011
Hughes-Stovin Syndrome

Author(s): Khalid Umair | Saleem Taimur
Volume: 6
Issue: 1
Year: 2011
Cholestasis in patients with Cockayne syndrome and suggested modified criteria for clinical diagnosis

Author(s): Abdel Ghaffar Tawhida | Elsobky Ezzat | Elsayed Solaf
Volume: 6
Issue: 1
Year: 2011
In Lysinuric Protein Intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages

Author(s): Barilli Amelia | Rotoli Bianca | Visigalli Rossana | Bussolati Ovidio | Gazzola Gian | Kadija Zamir | Rodi Giuseppe | Mariani Francesca | Ruzza Maria | Luisetti Maurizio | Dall'Asta Valeria
Volume: 5
Issue: 1
Year: 2010
Fabry disease

Author(s): Germain Dominique
Volume: 5
Issue: 1
Year: 2010
The diagnosis of inherited metabolic diseases by microarray gene expression profiling

Author(s): Arenas Hernandez Monica | Schulz Reiner | Chaplin Tracy | Young Bryan | Perrett David | Champion Michael | Taanman Jan-Willem | Fensom Anthony | Marinaki Anthony
Volume: 5
Issue: 1
Year: 2010
Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation

Author(s): Böhm Johann | Yiş Uluç | Ortaç Ragıp | Çakmakçı Handan | Kurul Semra | Dirik Eray | Laporte Jocelyn
Volume: 5
Issue: 1
Year: 2010
Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study

Author(s): Andreotti Giuseppina | Guarracino Mario | Cammisa Marco | Correra Antonella | Cubellis Maria
Volume: 5
Issue: 1
Year: 2010
Toxic epidermal necrolysis and Stevens-Johnson syndrome

Author(s): Harr Thomas | French Lars
Volume: 5
Issue: 1
Year: 2010
Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene

Author(s): Redaelli Chiara | Coleman Rosalind | Moro Laura | Dacou-Voutetakis Catherine | Elsayed Solaf | Prati Daniele | Colli Agostino | Mela Donatella | Colombo Roberto | Tavian Daniela
Volume: 5
Issue: 1
Year: 2010
Huntington's disease: a clinical review

Author(s): Roos Raymund
Volume: 5
Issue: 1
Year: 2010
Genome-wide analysis of Ollier disease: Is it all in the genes?

Author(s): Pansuriya Twinkal | Oosting Jan | Krenács Tibor | Taminiau Antonie | Verdegaal Suzan | Sangiorgi Luca | Sciot Raf | Hogendoorn Pancras | Szuhai Karoly | Bovée Judith
Volume: 6
Issue: 1
Year: 2011
Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease)

Author(s): Georges Amandine | Bonneau Jessica | Bonnefont-Rousselot Dominique | Champigneulle Jacqueline | Rabès Jean | Abifadel Marianne | Aparicio Thomas | Guenedet Jean | Bruckert Eric | Boileau Catherine | Morali Alain | Varret Mathilde | Aggerbeck Lawrence | Samson-Bouma Marie
Volume: 6
Issue: 1
Year: 2011
Lidocaine for systemic sclerosis: a double-blind randomized clinical trial

Author(s): Riera Rachel | Andrade Luís | Souza Alexandre | Kayser Cristiane | Yanagita Edison | Trevisani Virgínia
Volume: 6
Issue: 1
Year: 2011
Respective implications of glutamate decarboxylase antibodies in stiff person syndrome and cerebellar ataxia

Author(s): Manto Mario | Hampe Christiane | Rogemond Véronique | Honnorat Jérome
Volume: 6
Issue: 1
Year: 2011
Wolcott-Rallison syndrome

Author(s): Julier Cécile | Nicolino Marc
Volume: 5
Issue: 1
Year: 2010
Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers

Author(s): Peretti Noel | Sassolas Agnès | Roy Claude | Deslandres Colette | Charcosset Mathilde | Castagnetti Justine | Pugnet-Chardon Laurence | Moulin Philippe | Labarge Sylvie | Bouthillier Lise | Lachaux Alain | Levy Emile
Volume: 5
Issue: 1
Year: 2010
A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis

Author(s): Schneider Hauke | Lingesleben Alexandra | Vogel Hans-Peter | Garuti Rita | Calandra Sebastiano
Volume: 5
Issue: 1
Year: 2010
Dent's disease

Author(s): Devuyst Olivier | Thakker Rajesh
Volume: 5
Issue: 1
Year: 2010
A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report

Author(s): Dessein Anne-Frédérique | Fontaine Monique | Andresen Brage | Gregersen Niels | Brivet Michèle | Rabier Daniel | Napuri-Gouel Silvia | Dobbelaere Dries | Mention-Mulliez Karine | Martin-Ponthieu Annie | Briand Gilbert | Millington David | Vianey-Saban Christine | Wanders Ronald | Vamecq Joseph
Volume: 5
Issue: 1
Year: 2010
Hereditary combined deficiency of the vitamin K-dependent clotting factors

Author(s): Napolitano Mariasanta | Mariani Guglielmo | Lapecorella Mario
Volume: 5
Issue: 1
Year: 2010
Joubert Syndrome and related disorders

Author(s): Brancati Francesco | Dallapiccola Bruno | Valente Enza
Volume: 5
Issue: 1
Year: 2010
α-thalassaemia

Author(s): Harteveld Cornelis | Higgs Douglas
Volume: 5
Issue: 1
Year: 2010
Beta-thalassemia

Author(s): Galanello Renzo | Origa Raffaella
Volume: 5
Issue: 1
Year: 2010
Niemann-Pick disease type C

Author(s): Vanier Marie
Volume: 5
Issue: 1
Year: 2010
Congenital hypothyroidism

Author(s): Rastogi Maynika | LaFranchi Stephen
Volume: 5
Issue: 1
Year: 2010
Silver-Russell syndrome: genetic basis and molecular genetic testing

Author(s): Eggermann Thomas | Begemann Matthias | Binder Gerhard | Spengler Sabrina
Volume: 5
Issue: 1
Year: 2010
Hereditary renal adysplasia, pulmonary hypoplasia and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a case report

Author(s): Acién Pedro | Galán Francisco | Manchón Irene | Ruiz Eva | Acién Maribel | Alcaraz Luis
Volume: 5
Issue: 1
Year: 2010
Mucopolysaccharidosis VI

Author(s): Valayannopoulos Vassili | Nicely Helen | Harmatz Paul | Turbeville Sean
Volume: 5
Issue: 1
Year: 2010
A review of trisomy X (47,XXX)

Author(s): Tartaglia Nicole | Howell Susan | Sutherland Ashley | Wilson Rebecca | Wilson Lennie
Volume: 5
Issue: 1
Year: 2010
Aldosterone-producing adenoma and other surgically correctable forms of primary aldosteronism

Author(s): Amar Laurence | Plouin Pierre-François | Steichen Olivier
Volume: 5
Issue: 1
Year: 2010
Diagnosis and mortality in 47,XYY persons: a registry study

Author(s): Stochholm Kirstine | Juul Svend | Gravholt Claus
Volume: 5
Issue: 1
Year: 2010
Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review

Author(s): Pinto Louise | Vieira Taiane | Giugliani Roberto | Schwartz Ida
Volume: 5
Issue: 1
Year: 2010
Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report

Author(s): Mejia-Gaviria Natalia | Gil-Peña Helena | Coto Eliecer | Pérez-Menéndez Teresa | Santos Fernando
Volume: 5
Issue: 1
Year: 2010
Rothmund-Thomson syndrome

Author(s): Larizza Lidia | Roversi Gaia | Volpi Ludovica
Volume: 5
Issue: 1
Year: 2010
Retrospective French nationwide survey of childhood aggressive vascular anomalies of bone, 1988-2009

Author(s): Héritier Sébastien | Le Merrer Martine | Jaubert Francis | Bigorre Michèle | Gillibert-Yvert Marion | de Courtivron Benoit | Ziade Makram | Bertrand Yves | Carrie Christian | Chastagner Pascal | Bost-Bru Cécile | Léonard Jean-Claude | Ouache Marie | Boccon-Gibod Liliane | Mary Pierre | de Blic Jacques | Pin Isabelle | Wendling Daniel | Revillon Yann | Houdoin Véronique | Forin Véronique | Lepointe Hubert | Languepin Jane | Wagnon Jeanne | Epaud Ralph | Fauroux Brigitte | Donadieu Jean
Volume: 5
Issue: 1
Year: 2010
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report

Author(s): Cassiman David | Zeevaert Renate | Holme Elisabeth | Kvittingen Eli-Anne | Jaeken Jaak
Volume: 4
Issue: 1
Year: 2009
No difference in between-country variability in use of newly approved orphan and non- orphan medicinal products - a pilot study

Author(s): Stolk Pieter | Heemstra Harald | Leufkens Hubert | Bloechl-Daum Brigitte | Heerdink Eibert
Volume: 4
Issue: 1
Year: 2009
SP-D counteracts GM-CSF-mediated increase of granuloma formation by alveolar macrophages in lysinuric protein intolerance

Author(s): Douda David | Farmakovski Nicole | Dell Sharon | Grasemann Hartmut | Palaniyar Nades
Volume: 4
Issue: 1
Year: 2009
Incidence and classification of pediatric diffuse parenchymal lung diseases in Germany

Author(s): Griese Matthias | Haug Melanie | Brasch Frank | Freihorst Achim | Lohse Peter | von Kries Rüdiger | Zimmermann Theodor | Hartl Dominik
Volume: 4
Issue: 1
Year: 2009
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports

Author(s): Bernardini Laura | Gimelli Stefania | Gervasini Cristina | Carella Massimo | Baban Anwar | Frontino Giada | Barbano Giancarlo | Divizia Maria | Fedele Luigi | Novelli Antonio | Béna Frédérique | Lalatta Faustina | Miozzo Monica | Dallapiccola Bruno
Volume: 4
Issue: 1
Year: 2009
The Exstrophy-epispadias complex

Author(s): Ebert Anne-Karoline | Reutter Heiko | Ludwig Michael | Rösch Wolfgang
Volume: 4
Issue: 1
Year: 2009
Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring

Author(s): Hoffmann Björn
Volume: 4
Issue: 1
Year: 2009
Familial adenomatous polyposis

Author(s): Half Elizabeth | Bercovich Dani | Rozen Paul
Volume: 4
Issue: 1
Year: 2009
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients

Author(s): Drera Bruno | Ritelli Marco | Zoppi Nicoletta | Wischmeijer Anita | Gnoli Maria | Fattori Rossella | Calzavara-Pinton Pier | Barlati Sergio | Colombi Marina
Volume: 4
Issue: 1
Year: 2009
Erythropoietic protoporphyria

Author(s): Lecha Mario | Puy Hervé | Deybach Jean-Charles
Volume: 4
Issue: 1
Year: 2009
Arterial tortuosity syndrome in two Italian paediatric patients

Author(s): Ritelli Marco | Drera Bruno | Vicchio Mariano | Puppini Giovanni | Biban Paolo | Pilati Mara | Prioli Maria | Barlati Sergio | Colombi Marina
Volume: 4
Issue: 1
Year: 2009
Pulmonary involvement in Kaposi sarcoma: correlation between imaging and pathology

Author(s): Gasparetto Taisa | Marchiori Edson | Lourenço Sílvia | Zanetti Gláucia | Vianna Alberto | Santos Alair | Nobre Luiz
Volume: 4
Issue: 1
Year: 2009
Patent arterial duct

Author(s): Forsey Jonathan | Elmasry Ola | Martin Robin
Volume: 4
Issue: 1
Year: 2009
Cardiac magnetic resonance imaging in Alström syndrome

Author(s): Loudon Margaret | Bellenger Nicholas | Carey Catherine | Paisey Richard
Volume: 4
Issue: 1
Year: 2009
Neurofibromatosis type 2 (NF2): A clinical and molecular review

Author(s): Evans D Gareth
Volume: 4
Issue: 1
Year: 2009
Jacobsen syndrome

Author(s): Mattina Teresa | Perrotta Concetta | Grossfeld Paul
Volume: 4
Issue: 1
Year: 2009
Corneal dystrophies

Author(s): Klintworth Gordon
Volume: 4
Issue: 1
Year: 2009
Amyotrophic lateral sclerosis

Author(s): Wijesekera Lokesh | Leigh P Nigel
Volume: 4
Issue: 1
Year: 2009
Early treatment with noninvasive positive pressure ventilation prolongs survival in Amyotrophic Lateral Sclerosis patients with nocturnal respiratory insufficiency

Author(s): Carratù Pierluigi | Spicuzza Lucia | Cassano Anna | Maniscalco Mauro | Gadaleta Felice | Lacedonia Donato | Scoditti Cristina | Boniello Ester | Di Maria Giuseppe | Resta Onofrio
Volume: 4
Issue: 1
Year: 2009
Distal Xq duplication and functional Xq disomy

Author(s): Sanlaville Damien | Schluth-Bolard Caroline | Turleau Catherine
Volume: 4
Issue: 1
Year: 2009
Tetralogy of Fallot

Author(s): Bailliard Frederique | Anderson Robert
Volume: 4
Issue: 1
Year: 2009
Malignant mesothelioma

Author(s): Moore Alastair | Parker Robert | Wiggins John
Volume: 3
Issue: 1
Year: 2008
Orodental phenotype and genotype findings in all subtypes of hypophosphatasia

Author(s): Reibel Amélie | Manière Marie-Cécile | Clauss François | Droz Dominique | Alembik Yves | Mornet Etienne | Bloch-Zupan Agnès
Volume: 4
Issue: 1
Year: 2009
Osteopetrosis

Author(s): Stark Zornitza | Savarirayan Ravi
Volume: 4
Issue: 1
Year: 2009
Incentives for orphan drug research and development in the United States

Author(s): Seoane-Vazquez Enrique | Rodriguez-Monguio Rosa | Szeinbach Sheryl | Visaria Jay
Volume: 3
Issue: 1
Year: 2008
Nevoid basal cell carcinoma syndrome (Gorlin syndrome)

Author(s): Lo Muzio Lorenzo
Volume: 3
Issue: 1
Year: 2008
The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)

Author(s): Battaglia Agatino
Volume: 3
Issue: 1
Year: 2008
Asbestos-related pleural and lung fibrosis in patients with retroperitoneal fibrosis

Author(s): Uibu Toomas | Järvenpää Ritva | Hakomäki Jari | Auvinen Anssi | Honkanen Eero | Metsärinne Kaj | Roto Pekka | Saha Heikki | Uitti Jukka | Oksa Panu
Volume: 3
Issue: 1
Year: 2008
Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia

Author(s): Barron Martin | McDonnell Sinead | MacKie Iain | Dixon Michael
Volume: 3
Issue: 1
Year: 2008
Centronuclear (myotubular) myopathy

Author(s): Jungbluth Heinz | Wallgren-Pettersson Carina | Laporte Jocelyn
Volume: 3
Issue: 1
Year: 2008
Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)

Author(s): Desir Julie | Abramowicz Marc
Volume: 3
Issue: 1
Year: 2008
Transposition of the great arteries

Author(s): Martins Paula | Castela Eduardo
Volume: 3
Issue: 1
Year: 2008
Mixed cryoglobulinemia

Author(s): Ferri Clodoveo
Volume: 3
Issue: 1
Year: 2008
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

Author(s): Sevin Caroline | Ferdinandusse Sacha | Waterham Hans | Wanders Ronald | Aubourg Patrick
Volume: 6
Issue: 1
Year: 2011
Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report

Author(s): De Somer Lien | Wouters Carine | Morren Marie-Anne | De Vos Rita | Van Den Oord Joost | Devriendt Koenraad | Meyts Isabelle
Volume: 5
Issue: 1
Year: 2010
Sensory and motor neuronopathy in a patient with the A382P TDP-43 mutation

Author(s): Camdessanché Jean-Philippe | Belzil Véronique | Jousserand Guillemette | Rouleau Guy | Créac'h Christelle | Convers Philippe | Antoine Jean-Christophe
Volume: 6
Issue: 1
Year: 2011
Acro-cardio-facial syndrome

Author(s): Digilio Maria | Dallapiccola Bruno
Volume: 5
Issue: 1
Year: 2010
Inherited epidermolysis bullosa

Author(s): Fine Jo-David
Volume: 5
Issue: 1
Year: 2010
A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report

Author(s): Al-Owain Mohammed | Mohamed Sarar | Kaya Namik | Zagal Ahmad | Matthijs Gert | Jaeken Jaak
Volume: 5
Issue: 1
Year: 2010
Multisegmental spondylitis due to Tropheryma whipplei: Case report

Author(s): Spoerl David | Bär Diego | Cooper Julian | Vogt Thomas | Tyndall Alan | Walker Ulrich
Volume: 4
Issue: 1
Year: 2009
Triptans and troponin: a case report

Author(s): Weder Claudia | Schneemann Markus
Volume: 4
Issue: 1
Year: 2009
Screening for Alpha 1 antitrypsin deficiency in Tunisian subjects with obstructive lung disease: a feasibility report

Author(s): Denden Sabri | Zorzetto Michele | Amri Fethi | Knani Jalel | Ottaviani Stefania | Scabini Roberta | Gorrini Marina | Ferrarotti Ilaria | Campo Ilaria | Chibani Jemni | Khelil Amel | Luisetti Maurizio
Volume: 4
Issue: 1
Year: 2009
Pulmonary hemorrhage syndrome associated with dengue fever, High-resolution computed tomography findings: a case report

Author(s): Marchiori Edson | Ferreira José | Bittencourt Carolina | Neto César | Zanetti Gláucia | Mano Cláudia | Santos Alair | Vianna Alberto
Volume: 4
Issue: 1
Year: 2009
Adaptive design methods in clinical trials – a review

Author(s): Chow Shein-Chung | Chang Mark
Volume: 3
Issue: 1
Year: 2008
Monitoring clinical quality in rare disease services – experience in England

Author(s): Kenny Thomas | Jessop Edmund | Gutteridge William
Volume: 3
Issue: 1
Year: 2008
Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?

Author(s): Levrat Virginie | Forest Isabelle | Fouilhoux Alain | Acquaviva Cécile | Vianey-Saban Christine | Guffon Nathalie
Volume: 3
Issue: 1
Year: 2008
Loss-of-function genetic diseases and the concept of pharmaceutical targets

Author(s): Ségalat Laurent
Volume: 2
Issue: 1
Year: 2007
Successful whole lung lavage in pulmonary alveolar proteinosis secondary to lysinuric protein intolerance: a case report

Author(s): Ceruti Michele | Rodi Giuseppe | Stella Giulia | Adami Andrea | Bolongaro Antonia | Baritussio Aldo | Pozzi Ernesto | Luisetti Maurizio
Volume: 2
Issue: 1
Year: 2007
Amelogenesis imperfecta

Author(s): Crawford Peter | Aldred Michael | Bloch-Zupan Agnes
Volume: 2
Issue: 1
Year: 2007
Osteosarcoma (Osteogenic sarcoma)

Author(s): Picci Piero
Volume: 2
Issue: 1
Year: 2007
Craniocervical junction malformation in a child with Oromandibular-limb hypogenesis-Möbius syndrome

Author(s): Kaissi Ali | Grill Franz | Safi Hatem | Ghachem Maher | Chehida Farid | Klaushofer Klaus
Volume: 2
Issue: 1
Year: 2007
Foetal and neonatal alloimmune thrombocytopaenia

Author(s): Kaplan Cecile
Volume: 1
Issue: 1
Year: 2006
Lowe syndrome

Author(s): Loi Mario
Volume: 1
Issue: 1
Year: 2006
Pfeiffer syndrome

Author(s): Vogels Annick | Fryns Jean-Pierre
Volume: 1
Issue: 1
Year: 2006
Monosomy 18p

Author(s): Turleau Catherine
Volume: 3
Issue: 1
Year: 2008
Idiopathic (primary) achalasia

Author(s): Farrokhi Farnoosh | Vaezi Michael
Volume: 2
Issue: 1
Year: 2007
Anorectal malformations

Author(s): Levitt Marc | Peña Alberto
Volume: 2
Issue: 1
Year: 2007
Intestinal epithelial dysplasia (tufting enteropathy)

Author(s): Goulet Olivier | Salomon Julie | Ruemmele Frank | de Serres Natacha | Brousse Nicole
Volume: 2
Issue: 1
Year: 2007
Central core disease

Author(s): Jungbluth Heinz
Volume: 2
Issue: 1
Year: 2007
Intrahepatic cholestasis of pregnancy

Author(s): Pusl Thomas | Beuers Ulrich
Volume: 2
Issue: 1
Year: 2007
Craniopharyngioma

Author(s): Garnett Matthew | Puget Stéphanie | Grill Jacques | Sainte-Rose Christian
Volume: 2
Issue: 1
Year: 2007
Pyoderma gangrenosum – a review

Author(s): Wollina Uwe
Volume: 2
Issue: 1
Year: 2007
Coronary arterial fistulas

Author(s): Qureshi Shakeel
Volume: 1
Issue: 1
Year: 2006
Primary sclerosing cholangitis

Author(s): Worthington Joy | Chapman Roger
Volume: 1
Issue: 1
Year: 2006
Brugada syndrome

Author(s): Napolitano Carlo | Priori Silvia
Volume: 1
Issue: 1
Year: 2006
Ollier disease

Author(s): Silve Caroline | Jüppner Harald
Volume: 1
Issue: 1
Year: 2006
Nasopharyngeal carcinoma

Author(s): Brennan Bernadette
Volume: 1
Issue: 1
Year: 2006
Congenital contractural arachnodactyly (Beals syndrome)

Author(s): Tunçbilek Ergül | Alanay Yasemin
Volume: 1
Issue: 1
Year: 2006
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus)

Author(s): Van Buggenhout Griet | Fryns Jean-Pierre
Volume: 1
Issue: 1
Year: 2006
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