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Orphanet Journal of Rare Diseases

ISSN: 1750--1172
Publisher: BioMed Central


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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
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
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
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
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
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
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
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
"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
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
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
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
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
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
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
Correction: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 | Sertedaki Amalia | Kakourou Talia | Elsayed Solaf | Prati Daniele | Colli Agostino | Mela Donatella | Colombo Roberto | Tavian Daniela
Volume: 6
Issue: 1
Year: 2011
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
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
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
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
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
Hughes-Stovin Syndrome

Author(s): Khalid Umair | Saleem Taimur
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
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
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
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome

Author(s): Mégarbané Hala | Mégarbané André
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
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
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
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
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
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
Machado-Joseph Disease: from first descriptions to new perspectives

Author(s): Bettencourt Conceição | Lima Manuela
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
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
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
Pricing and reimbursement of orphan drugs: the need for more transparency

Author(s): Simoens Steven
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
Atypical hemolytic uremic syndrome

Author(s): Loirat Chantal | Frémeaux-Bacchi Véronique
Volume: 6
Issue: 1
Year: 2011
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
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
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
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
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
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
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
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
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
Congenitally corrected transposition

Author(s): Wallis Gonzalo | Debich-Spicer Diane | Anderson Robert
Volume: 6
Issue: 1
Year: 2011
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