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Molecular Cytogenetics

ISSN: 1755--8166
Publisher: BioMed Central


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A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1–q12.1 in a healthy man

Author(s): Rodríguez Laura | Liehr Tomas | Martínez-Fernández María | Lara Ana | Torres Antonio | Martínez-Frías María
Volume: 1
Issue: 1
Year: 2008
A new open access journal for a rapidly evolving biomedical field: introducing Molecular Cytogenetics

Author(s): Yurov Yuri B | Liehr Thomas | Shaffer Lisa G | Iourov Ivan Y | Vorsanova Svetlana G
Volume: 1
Issue: 1
Year: 2008
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies

Author(s): Iourov Ivan Y | Vorsanova Svetlana G | Kurinnaia Oxana S | Zelenova Maria A | Silvanovich Alexandra P | Yurov Yuri B
Volume: 5
Issue: 1
Year: 2012
Chromosome mapping of repetitive sequences in Anostomidae species: implications for genomic and sex chromosome evolution

Author(s): da Silva Edson Lourenço | de Borba Rafael Splendore | Parise-Maltempi Patrícia Pasquali
Volume: 5
Issue: 1
Year: 2012
Incidence and patterns of ALK FISH abnormalities seen in a large unselected series of lung carcinomas

Author(s): Dai Zunyan | Kelly JoAnn C | Meloni-Ehrig Aurelia | Slovak Marilyn L | Boles Debra | Christacos Nicole C | Bryke Christine R | Schonberg Steven A | Otani-Rosa Jennifer | Pan Qiulu | Ho Albert K | Sanders Heather R | Zhang Zhong J | Jones Dan | Mowrey Philip N
Volume: 5
Issue: 1
Year: 2012
Correction: The key role of repeated DNAs in sex chromosome evolution in two fish species with ZW sex chromosome system

Author(s): Cioffi Marcelo de Bello | Kejnovský Eduard | Marquioni Vinicius | Poltronieri Juliana | Molina Wagner F | Diniz Débora | Bertollo Luiz Antonio C
Volume: 5
Issue: 1
Year: 2012
Chromosomal Aberrations in ETV6/RUNX1-positive Childhood Acute Lymphoblastic Leukemia using 244K Oligonucleotide Array Comparative Genomic Hybridization

Author(s): Zakaria Zubaidah | Ahid Mohd Fadly Md | Ismail Azli | Keoh Ten Sew | Nor Nooraisyah Mohamad | Kamaluddin Nor Rizan | Esa Ezalia | Yuen Lam Kah | Rahman Eni Juraida Abdul | Osman Raudhawati
Volume: 5
Issue: 1
Year: 2012
Activation of the two microRNA clusters C19MC and miR-371-3 does not play prominent role in thyroid cancer

Author(s): Rippe Volkhard | Flor Inga | Debler Johannes | Drieschner Norbert | Rommel Birgit | Krause Daniel | Junker Klaus | Bullerdiek Jörn
Volume: 5
Issue: 1
Year: 2012
Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory

Author(s): Anguiano Arturo | Wang Boris T | Wang Shirong R | Boyar Fatih Z | Mahon Loretta W | El Naggar Mohamed M | Kohn Peter H | Haddadin Mary H | Sulcova Vladimira | Sbeiti Adam H | Ayad Mervat S | White Beverly J | Strom Charles M
Volume: 5
Issue: 1
Year: 2012
Chromosome anomalies in bone marrow as primary cause of aplastic or hypoplastic conditions and peripheral cytopenia: disorders due to secondary impairment of RUNX1 and MPL genes

Author(s): Marletta Cristina | Valli Roberto | Pressato Barbara | Mare Lydia | Montalbano Giuseppe | Menna Giuseppe | Loffredo Giuseppe | Bernardo Maria | Vinti Luciana | Ferrari Simona | Di Cesare-Merlone Alessandra | Zecca Marco | Lo Curto Francesco | Locatelli Franco | Pasquali Francesco | Maserati Emanuela
Volume: 5
Issue: 1
Year: 2012
Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomalies

Author(s): Filges Isabel | Kang Anjeung | Klug Vanessa | Wenzel Friedel | Heinimann Karl | Tercanli Sevgi | Miny Peter
Volume: 5
Issue: 1
Year: 2012
Characterization of telomeric repeats in metaphase chromosomes and interphase nuclei of Syrian Hamster Fibroblasts

Author(s): Solovjeva Liudmila V | Demin Sergey | Pleskach Nadezhda M | Kuznetsova Maria O | Svetlova Maria P
Volume: 5
Issue: 1
Year: 2012
A novel dic (17;18) (p13.1;q11.2) with loss of TP53 and BCR/ABL rearrangement in an Imatinib resistant chronic myeloid leukemia

Author(s): Al-achkar Walid | Wafa Abdulsamad | Moassass Faten | Othman Moneeb Abdullah
Volume: 5
Issue: 1
Year: 2012
Chromosome abnormalities in Indonesian patients with short stature

Author(s): Paramayuda Chrysantine | Kartapradja Hannie | Ambarwati Debby D | Anggaratri Helena W | Suciati Lita P | Marzuki Nanis S | Harahap Alida
Volume: 5
Issue: 1
Year: 2012
Cytomolecular characterization of de novo formed rye B chromosome variants

Author(s): Marques André | Klemme Sonja | Guerra Marcelo | Houben Andreas
Volume: 5
Issue: 1
Year: 2012
Array-based comparative genomic hybridization is more informative than conventional karyotyping and fluorescence in situ hybridization in the analysis of first-trimester spontaneous abortion

Author(s): Gao Jinsong | Liu Congcong | Yao Fengxia | Hao Na | Zhou Jing | Zhou Qian | Zhang Liang | Liu Xinyan | Bian Xuming | Liu Juntao
Volume: 5
Issue: 1
Year: 2012
Investigating the role of X chromosome breakpoints in premature ovarian failure

Author(s): Baronchelli Simona | Villa Nicoletta | Redaelli Serena | Lissoni Sara | Saccheri Fabiana | Panzeri Elena | Conconi Donatella | Bentivegna Angela | Crosti Francesca | Sala Elena | Bertola Francesca | Marozzi Anna | Pedicini Antonio | Ventruto Marialuisa | Police Maria | Dalprà Leda
Volume: 5
Issue: 1
Year: 2012
Characterization of a complex rearrangement involving duplication and deletion of 9p in an infant with craniofacial dysmorphism and cardiac anomalies

Author(s): Di Bartolo Daniel L | El Naggar Mohamed | Owen Renius | Sahoo Trilochan | Gilbert Fred | Pulijaal Venkat R | Mathew Susan
Volume: 5
Issue: 1
Year: 2012
Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report

Author(s): Mulatinho Milene | de Carvalho Serao Cassio | Scalco Fernanda | Hardekopf David | Pekova Sona | Mrasek Kristin | Liehr Thomas | Weise Anja | Rao Nagesh | Llerena Juan
Volume: 5
Issue: 1
Year: 2012
Isochromosome 13 in a patient with childhood-onset schizophrenia, ADHD, and motor tic disorder

Author(s): Graw Sharon L | Swisshelm Karen | Floyd Kirsten | Carstens Billie J | Wamboldt Marianne Z | Ross Randall G | Leonard Sherry
Volume: 5
Issue: 1
Year: 2012
Neocentric X-chromosome in a girl with Turner-like syndrome

Author(s): Hemmat Morteza | Wang Boris T | Warburton Peter E | Yang Xiaojing | Boyar Fatih Z | El Naggar Mohammed | Anguiano Arturo
Volume: 5
Issue: 1
Year: 2012
The key role of repeated DNAs in sex chromosome evolution in two fish species with ZW sex chromosome system

Author(s): de Bello Cioffi Marcelo | Kejnovský Eduard | Marquioni Vinicius | Poltronieri Juliana | Molina Wagner | Diniz Débora | Bertollo Luiz Antonio
Volume: 5
Issue: 1
Year: 2012
Molecular cytogenetic characterization of undifferentiated embryonal sarcoma of the liver: a case report and literature review

Author(s): Hu Xiaoxia | Chen Haiying | Jin Meishan | Wang Xianfu | Lee Jiyun | Xu Weihong | Zhang Rui | Li Shibo | Niu Junqi
Volume: 5
Issue: 1
Year: 2012
Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region

Author(s): Ferreira Susana | Matoso Eunice | Venâncio Margarida | Saraiva Jorge | Melo Joana B | Carreira Isabel
Volume: 5
Issue: 1
Year: 2012
Selection of single blastocysts for fresh transfer via standard morphology assessment alone and with array CGH for good prognosis IVF patients: results from a randomized pilot study

Author(s): Yang Zhihong | Liu Jiaen | Collins Gary S | Salem Shala A | Liu Xiaohong | Lyle Sarah S | Peck Alison C | Sills E | Salem Rifaat D
Volume: 5
Issue: 1
Year: 2012
BCR-JAK2 fusion as a result of a translocation (9;22)(p24;q11.2) in a patient with CML-like myeloproliferative disease

Author(s): Elnaggar Mohamed M | Agersborg Sally | Sahoo Trilochan | Girgin Ati | Ma Wanlong | Rakkhit Ronjay | Zorrilla Isabel | Leal Alexis
Volume: 5
Issue: 1
Year: 2012
Analysis of ZAP70 expression in adult acute lymphoblastic leukaemia by real time quantitative PCR

Author(s): Chakupurakal Geothy | Bell Andrew | Griffiths Mike | Wandroo Farooq | Moss Paul
Volume: 5
Issue: 1
Year: 2012
A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report

Author(s): Palumbo Orazio | Palumbo Pietro | Palladino Teresa | Stallone Raffaella | Zelante Leopoldo | Carella Massimo
Volume: 5
Issue: 1
Year: 2012
Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism

Author(s): Robberecht Caroline | Voet Thierry | Utine Gülen E | Schinzel Albert | de Leeuw Nicole | Fryns Jean-Pierre | Vermeesch Joris
Volume: 5
Issue: 1
Year: 2012
Co-existence of other copy number variations with 22q11.2 deletion or duplication: a modifier for variable phenotypes of the syndrome?

Author(s): Li Deling | Tekin Mustafa | Buch Maria | Fan Yao-Shan
Volume: 5
Issue: 1
Year: 2012
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

Author(s): Celestino-Soper Patrícia BS | Skinner Cindy | Schroer Richard | Eng Patricia | Shenai Jayant | Nowaczyk Malgorzata MJ | Terespolsky Deborah | Cushing Donna | Patel Gayle S | Immken LaDonna | Willis Alecia | Wiszniewska Joanna | Matalon Reuben | Rosenfeld Jill A | Stevenson Roger E | Kang Sung-Hae L | Cheung Sau | Beaudet Arthur L | Stankiewicz Pawel
Volume: 5
Issue: 1
Year: 2012
Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype

Author(s): Finelli Palma | Sirchia Silvia | Masciadri Maura | Crippa Milena | Recalcati Maria | Rusconi Daniela | Giardino Daniela | Monti Laura | Cogliati Francesca | Faravelli Francesca | Natacci Federica | Zoccante Leonardo | Bernardina Bernardo | Russo Silvia | Larizza Lidia
Volume: 5
Issue: 1
Year: 2012
Centromeric association of small supernumerary marker chromosomes with their sister-chromosomes detected by three dimensional molecular cytogenetics

Author(s): Klein Elisabeth | Manvelyan Marina | Simonyan Isabella | Hamid Ahmed B | Guilherme Roberta | Liehr Thomas | Karamysheva Tatyana
Volume: 5
Issue: 1
Year: 2012
Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities

Author(s): Srebniak Malgorzata I | Boter Marjan | Oudesluijs Gretel O | Cohen-Overbeek Titia | Govaerts Lutgarde CP | Diderich Karin EM | Oegema Renske | Knapen Maarten FCM | van de Laar Ingrid MBH | Joosten Marieke | Van Opstal Diane | Galjaard Robert-Jan H
Volume: 5
Issue: 1
Year: 2012
Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size

Author(s): Halder Ashutosh | Jain Manish | Chaudhary Isha | Varma Binuja
Volume: 5
Issue: 1
Year: 2012
Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature

Author(s): Sifakis Stavros | Manolakos Emmanouil | Vetro Annalisa | Kappou Dimitra | Peitsidis Panagiotis | Kontodiou Maria | Garas Antonios | Vrachnis Nikolaos | Konstandinidou Anastasia | Zuffardi Orsetta | Orru Sandro | Papoulidis Ioannis
Volume: 5
Issue: 1
Year: 2012
High rates of de novo 15q11q13 inversions in human spermatozoa

Author(s): Molina Òscar | Anton Ester | Vidal Francesca | Blanco Joan
Volume: 5
Issue: 1
Year: 2012
CGH and SNP array using DNA extracted from fixed cytogenetic preparations and long-term refrigerated bone marrow specimens

Author(s): MacKinnon Ruth N | Selan Carly | Zordan Adrian | Wall Meaghan | Nandurkar Harshal | Campbell Lynda J
Volume: 5
Issue: 1
Year: 2012
Isolated trisomy 7q21.2-31.31 resulting from a complex familial rearrangement involving chromosomes 7, 9 and 10

Author(s): Weimer Jörg | Heidemann Simone | von Kaisenberg Constantin S | Grote Werner | Arnold Norbert | Bens Susanne | Caliebe Almuth
Volume: 4
Issue: 1
Year: 2011
Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect

Author(s): Srebniak Malgorzata I | Boter Marjan | Verboven-Peerden Carla MA | Looye-Bruinsma Gerda AG | Oudesluijs Gretel | Galjaard Robert-Jan H | Van Opstal Diane
Volume: 4
Issue: 1
Year: 2011
Centrosomal and mitotic abnormalities in cell lines derived from papillary thyroid cancer harboring specific gene alterations

Author(s): Maric Irena | Viaggi Silvia | Caria Paola | Frau Daniela V | Degan Paolo | Vanni Roberta
Volume: 4
Issue: 1
Year: 2011
Evaluation of chronic lymphocytic leukemia by oligonucleotide-based microarray analysis uncovers novel aberrations not detected by FISH or cytogenetic analysis

Author(s): Kolquist Kathryn A | Schultz Roger A | Slovak Marilyn L | McDaniel Lisa D | Brown Theresa C | Tubbs Raymond R | Cook James R | Theil Karl S | Cawich Victoria | Valentin Caitlin | Minier Sara | Neill Nicholas J | Byerly Steve | Morton S | Sahoo Trilochan | Ballif Blake C | Shaffer Lisa G
Volume: 4
Issue: 1
Year: 2011
A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum

Author(s): Lall Meena | Thakur Seema | Puri Ratna | Verma Ishwar | Mukerji Mithali | Jha Pankaj
Volume: 4
Issue: 1
Year: 2011
Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular karyotyping: Case report

Author(s): Eckmann-Scholz Christel | Gesk Stefan | Nagel Inga | Haake Andrea | Bens Susanne | Heidemann Simone | Kautza Monika | Timke Christian | Siebert Reiner | Caliebe Almuth
Volume: 3
Issue: 1
Year: 2010
Generation of multicolor banding probes for chromosomes of different species

Author(s): Kosyakova Nadezda | Hamid Ahmed Basheer | Chaveerach Arunrat | Pinthong Krit | Siripiyasing Pornnarong | Supiwong Weerayuth | Romanenko Svetlana | Trifonov Vladimir | Fan Xiaobo
Volume: 6
Issue: 1
Year: 2013
6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies

Author(s): Di Benedetto Daniela | Di Vita Giuseppa | Romano Corrado | Giudice Mariangela Lo | Vitello Girolamo Aurelio | Zingale Marinella | Grillo Lucia | Castiglia Lucia | Musumeci Sebastiano Antonino | Fichera Marco
Volume: 6
Issue: 1
Year: 2013
Trisomy 8: a common finding in mouse embryonic stem (ES) cell lines

Author(s): Kim Young Mi | Lee Ji-Yun | Xia Lijun | Mulvihill John J | Li Shibo
Volume: 6
Issue: 1
Year: 2013
7q36 deletion and 9p22 duplication: effects of a double imbalance

Author(s): Pelegrino Karla de | Sugayama Sofia | Catelani Ana | Lezirovitz Karina | Kok Fernando | Chauffaille Maria de
Volume: 6
Issue: 1
Year: 2013
A specific family of interspersed repeats (SINEs) facilitates meiotic synapsis in mammals

Author(s): Johnson Matthew E | Rowsey Ross A | Shirley Sofia | VandeVoort Catherine | Bailey Jeffrey | Hassold Terry
Volume: 6
Issue: 1
Year: 2013
"Familial" versus "Sporadic" intellectual disability: contribution of common microdeletion and microduplication syndromes

Author(s): Rafati Maryam | Seyyedaboutorabi Elaheh | Ghadirzadeh Mohammad R | Heshmati Yaser | Adibi Homeira | Keihanidoust Zarrintaj | Eshraghian Mohammad R | Javadi Gholam | Dastan Jila | Mosavi-Jarrahi Alireza | Hoseini Azadeh | Purhoseini Marzieh | Ghaffari Saeed R
Volume: 5
Issue: 1
Year: 2012
Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism

Author(s): Huijsdens-van Amsterdam Karin | Barge-Schaapveld Daniela QCM | Mathijssen Inge B | Alders Mariëlle | Pajkrt Eva | Knegt Alida C
Volume: 5
Issue: 1
Year: 2012
Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?

Author(s): Kooper Angelique JA | Pieters Jacqueline JPM | Faas Brigitte HW | Hoefsloot Lies H | van der Burgt Ineke | Zondervan Hans A | Smits Arie PT
Volume: 5
Issue: 1
Year: 2012
A recurrent translocation is mediated by homologous recombination between HERV-H elements

Author(s): Hermetz Karen E | Surti Urvashi | Cody Jannine D | Rudd M Katharine
Volume: 5
Issue: 1
Year: 2012
Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene

Author(s): Colovati Mileny ES | da Silva Luciana RJ | Takeno Sylvia S | Mancini Tatiane I | N Dutra Ana R | Guilherme Roberta S | de Mello Cláudia B | Melaragno Maria I | A Perez Ana B
Volume: 5
Issue: 1
Year: 2012
"Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements

Author(s): Rafati Maryam | Ghadirzadeh Mohammad R | Heshmati Yaser | Adibi Homeira | Keihanidoust Zarrintaj | Eshraghian Mohammad R | Dastan Jila | Hoseini Azadeh | Purhoseini Marzieh | Ghaffari Saeed R
Volume: 5
Issue: 1
Year: 2012
Assessment of ERBB2 and EGFR gene amplification and protein expression in gastric carcinoma by immunohistochemistry and fluorescence in situ hybridization

Author(s): YK Wang | CF Gao | T Yun | Z Chen | XW Zhang | XX Lv | NL Meng | WZ Zhao
Volume: 4
Issue: 1
Year: 2011
Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases

Author(s): Park Sang-Jin | Jung Eun | Ryu Ran-Suk | Kang Hyun | Ko Jung-Min | Kim Hyon | Cheon Chong | Hwang Sang-Hyun | Kang Ho-Young
Volume: 4
Issue: 1
Year: 2011
Comparative genomic hybridization on microarray (a-CGH) in constitutional and acquired mosaicism may detect as low as 8% abnormal cells

Author(s): Valli Roberto | Marletta Cristina | Pressato Barbara | Montalbano Giuseppe | Lo Curto Francesco | Pasquali Francesco | Maserati Emanuela
Volume: 4
Issue: 1
Year: 2011
Diversity of sex chromosome abnormalities in a cohort of 95 Indonesian patients with monosomy X

Author(s): Marzuki Nanis | Anggaratri Helena | Suciati Lita | Ambarwati Debby | Paramayuda Chrysantine | Kartapradja Hannie | Pulungan Aman | Harahap Alida
Volume: 4
Issue: 1
Year: 2011
The genome diversity and karyotype evolution of mammals

Author(s): Graphodatsky Alexander | Trifonov Vladimir | Stanyon Roscoe
Volume: 4
Issue: 1
Year: 2011
An unusual T-cell childhood acute lymphoblastic leukemia harboring a yet unreported near-tetraploid karyotype

Author(s): Garcia Daniela | Bhatt Samarth | Manvelyan Marina | de Souza Mariana | Binato Renata | Aguiar Thais | Abdelhay Eliana | Silva Maria Luiza
Volume: 4
Issue: 1
Year: 2011
DNA secondary structure is influenced by genetic variation and alters susceptibility to de novo translocation

Author(s): Kato Takema | Inagaki Hidehito | Tong Maoqing | Kogo Hiroshi | Ohye Tamae | Yamada Kouji | Tsutsumi Makiko | Emanuel Beverly | Kurahashi Hiroki
Volume: 4
Issue: 1
Year: 2011
De novo 7p partial trisomy characterized by subtelomeric FISH and whole-genome array in a girl with mental retardation

Author(s): S Aswini | Padmalatha Venkata | G Saranya | T Durgadatta | T Raseswari | Kulashekaran Kanakavalli | J Meena | N Chandra | S Lalji | Kandukuri Lakshmi
Volume: 4
Issue: 1
Year: 2011
Submicroscopic interstitial deletion of chromosome 11q22.3 in a girl with mild mental retardation and facial dysmorphism: Case report

Author(s): Krgovic Danijela | Marcun Varda Natasa | Zagorac Andreja | Kokalj-Vokac Nadja
Volume: 4
Issue: 1
Year: 2011
Biclonal myelodysplastic syndrome involving six chromosomes and monoallelic loss of RB1 - A rare case

Author(s): Al-Achkar Walid | Wafa Abdulsamad | Klein Elisabeth | Aljapawe Abdulmunim
Volume: 4
Issue: 1
Year: 2011
Context-based FISH localization of genomic rearrangements within chromosome 15q11.2q13 duplicons

Author(s): Khan Wahab | Knoll Joan | Rogan Peter
Volume: 4
Issue: 1
Year: 2011
Further delineation of complex chromosomal rearrangements in fertile male using multicolor banding

Author(s): Karadeniz Nilüfer | Mrasek Kristin | Weise Anja
Volume: 1
Issue: 1
Year: 2008
Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement

Author(s): Shchelochkov Oleg | Cooper M Lance | Ou Zhishuo | Peacock Sandra | Yatsenko Svetlana | Brown Chester | Fang Ping | Stankiewicz Pawel | Cheung Sau
Volume: 1
Issue: 1
Year: 2008
FISH mapping of Philadelphia negative BCR/ABL1 positive CML

Author(s): Virgili Anna | Brazma Diana | Reid Alistair | Howard-Reeves Julie | Valgañón Mikel | Chanalaris Anastasios | De Melo Valeria | Marin David | Apperley Jane | Grace Colin | Nacheva Ellie
Volume: 1
Issue: 1
Year: 2008
Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype

Author(s): Sismani Carolina | Kitsiou-Tzeli Sofia | Ioannides Marios | Christodoulou Christodoulos | Anastasiadou Violetta | Stylianidou Goula | Papadopoulou Eleftheria | Kanavakis Emanuel | Kosmaidou-Aravidou Zoe | Patsalis Philippos
Volume: 1
Issue: 1
Year: 2008
Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature

Author(s): Vorsanova Svetlana | Iourov Ivan | Voinova-Ulas Victoria | Weise Anja | Monakhov Victor | Kolotii Alexei | Soloviev Ilia | Novikov Petr | Yurov Yuri | Liehr Thomas
Volume: 1
Issue: 1
Year: 2008
Chromosomal assignment of canine THADA gene to CFA 10q25

Author(s): Soller Jan | Beuing Claudia | Escobar Hugo | Winkler Susanne | Reimann-Berg Nicola | Drieschner Norbert | Dolf Gaudenz | Schelling Claude | Nolte Ingo | Bullerdiek Jörn
Volume: 1
Issue: 1
Year: 2008
Genome profiling of ovarian adenocarcinomas using pangenomic BACs microarray comparative genomic hybridization

Author(s): Caserta Donatella | Benkhalifa Moncef | Baldi Marina | Fiorentino Francesco | Qumsiyeh Mazin | Moscarini Massimo
Volume: 1
Issue: 1
Year: 2008
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

Author(s): Ballif Blake | Theisen Aaron | Coppinger Justine | Gowans Gordon | Hersh Joseph | Madan-Khetarpal Suneeta | Schmidt Karen | Tervo Raymond | Escobar Luis | Friedrich Christopher | McDonald Marie | Campbell Lindsey | Ming Jeffrey | Zackai Elaine | Bejjani Bassem | Shaffer Lisa
Volume: 1
Issue: 1
Year: 2008
Small supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among them

Author(s): Liehr Thomas | Mrasek Kristin | Kosyakova Nadezda | Ogilvie Caroline | Vermeesch Joris | Trifonov Vladimir | Rubtsov Nikolai
Volume: 1
Issue: 1
Year: 2008
Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization

Author(s): Tsuchiya Karen | Opheim Kent | Hannibal Mark | Hing Anne | Glass Ian | Raff Michael | Norwood Thomas | Torchia Beth
Volume: 1
Issue: 1
Year: 2008
An improved Diagnostic PCR Assay for identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1)

Author(s): Khaniani Mahmoud | Kalitsis Paul | Burgess Trent | Slater Howard
Volume: 1
Issue: 1
Year: 2008
Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis

Author(s): Ahn Joo Wook | Mann Kathy | Docherty Zoe | Mackie Ogilvie Caroline
Volume: 1
Issue: 1
Year: 2008
Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?

Author(s): Trifonov Vladimir | Fluri Simon | Binkert Franz | Nandini Adayapalam | Anderson Jasen | Rodriguez Laura | Gross Madeleine | Kosyakova Nadezda | Mkrtchyan Hasmik | Ewers Elisabeth | Reich Daniela | Weise Anja | Liehr Thomas
Volume: 1
Issue: 1
Year: 2008
Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy

Author(s): Manolakos Emmanouil | Sarri Catherine | Vetro Annalisa | Kefalas Konstantinos | Leze Eleni | Sofocleus Christalena | Kitsos George | Merou Konstantina | Kokotas Haris | Papadopoulou Anna | Attilakos Achilleas | Petersen Michael | Kitsiou-Tzeli Sofia
Volume: 4
Issue: 1
Year: 2011
A rare case of t(11;22) in a mantle cell lymphoma like B-cell neoplasia resulting in a fusion of IGL and CCND1: case report

Author(s): Rocha Cristiano | Praulich Inka | Gehrke Iris | Hallek Michael | Kreuzer Karl-Anton
Volume: 4
Issue: 1
Year: 2011
Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects

Author(s): Al-Zahrani Jawaher | Al-Dosari Naji | AbuDheim Nada | Alshidi Tarfa | Colak Dilek | Al-Habit Ola | Al-Odaib Ali | Sakati Nadia | Meyer Brian | Ozand Pinar | Kaya Namik
Volume: 4
Issue: 1
Year: 2011
No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population control

Author(s): Frohnauer Judith | Caliebe Almuth | Gesk Stefan | Partsch Carl-Joachim | Siebert Reiner | Pankau Rainer | Jenderny Jutta
Volume: 3
Issue: 1
Year: 2010
Assessing karyotype precision by microarray-based comparative genomic hybridization in the myelodysplastic/myeloproliferative syndromes

Author(s): Slovak Marilyn | Smith David | Bedell Victoria | Hsu Ya-Hsuan | O'Donnell Margaret | Forman Stephen | Gaal Karl | McDaniel Lisa | Schultz Roger | Ballif Blake | Shaffer Lisa
Volume: 3
Issue: 1
Year: 2010
Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations

Author(s): Evangelidou Paola | Sismani Carolina | Ioannides Marios | Christodoulou Christodoulos | Koumbaris George | Kallikas Ioannis | Georgiou Ioannis | Velissariou Voula | Patsalis Philippos
Volume: 3
Issue: 1
Year: 2010
Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis

Author(s): Van Opstal Diane | Boter Marjan | Noomen Petra | Srebniak Malgorzata | Hamers Guus | Galjaard Robert-Jan
Volume: 4
Issue: 1
Year: 2011
Evaluation of chronic lymphocytic leukemia by BAC-based microarray analysis

Author(s): Schultz Roger | Delioukina Maria | Gaal Karl | Bedell Victoria | Smith David | Forman Stephen | McDaniel Lisa | Ballif Blake | Shaffer Lisa | Slovak Marilyn
Volume: 4
Issue: 1
Year: 2011
The use of array-CGH in a cohort of Greek children with developmental delay

Author(s): Manolakos Emmanouil | Vetro Annalisa | Kefalas Konstantinos | Rapti Stamatia-Maria | Louizou Eirini | Garas Antonios | Kitsos George | Vasileiadis Lefteris | Tsoplou Panagiota | Eleftheriades Makarios | Peitsidis Panagiotis | Orru Sandro | Liehr Thomas | Petersen Michael | Thomaidis Loretta
Volume: 3
Issue: 1
Year: 2010
Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH

Author(s): Neill Nicholas | Torchia Beth | Bejjani Bassem | Shaffer Lisa | Ballif Blake
Volume: 3
Issue: 1
Year: 2010
Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies

Author(s): van der Veken Lars | Dieleman Marianne | Douben Hannie | van de Brug Judith | van de Graaf Raoul | Hoogeboom A Jeannette | Poddighe Pino | de Klein Annelies
Volume: 3
Issue: 1
Year: 2010
Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair

Author(s): Aktas Dilek | Utine Eda | Mrasek Kristin | Weise Anja | von Eggeling Ferdinand | Yalaz Kalbiye | Posorski Nicole | Akarsu Nurten | Alikasifoglu Mehmet | Liehr Thomas | Tuncbilek Ergul
Volume: 3
Issue: 1
Year: 2010
Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance

Author(s): Ahn Joo Wook | Mann Kathy | Walsh Sally | Shehab Marwa | Hoang Sarah | Docherty Zoe | Mohammed Shehla | Mackie Ogilvie Caroline
Volume: 3
Issue: 1
Year: 2010
Two siblings with immunodeficiency, facial abnormalities and chromosomal instability without mutation in DNMT3B gene but liability towards malignancy; a new chromatin disorder delineation?

Author(s): Polityko Anna | Khurs Olga | Rumyantseva Natalia | Naumchik Irina | Kosyakova Nadezda | Tönnies Holger | Sperling Karl | Neitzel Heidemarie | Weise Anja | Liehr Thomas
Volume: 3
Issue: 1
Year: 2010
On the paternal origin of trisomy 21 Down syndrome

Author(s): Hultén Maj | Patel Suketu | Westgren Magnus | Papadogiannakis Nikos | Jonsson Anna | Jonasson Jon | Iwarsson Erik
Volume: 3
Issue: 1
Year: 2010
8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families

Author(s): Barber John | Bunyan Dave | Curtis Merryl | Robinson Denise | Morlot Susanne | Dermitzel Anette | Liehr Thomas | Alves Claudia | Trindade Joana | Paramos Ana | Cooper Clare | Ocraft Kevin | Taylor Emma-Jane | Maloney Viv
Volume: 3
Issue: 1
Year: 2010
Male and female meiotic behaviour of an intrachromosomal insertion determined by preimplantation genetic diagnosis

Author(s): Xanthopoulou Leoni | Mantzouratou Anna | Mania Anastasia | Cawood Suzanne | Doshi Alpesh | Ranieri Domenico | Delhanty Joy
Volume: 3
Issue: 1
Year: 2010
Human interphase chromosomes: a review of available molecular cytogenetic technologies

Author(s): Vorsanova Svetlana | Yurov Yuri | Iourov Ivan
Volume: 3
Issue: 1
Year: 2010
A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report

Author(s): Sheth Frenny | Ewers Elisabeth | Kosyakova Nadezda | Weise Anja | Sheth Jayesh | Desai Manisha | Andrieux Joris | Vermeesch Joris | Hamid Ahmed | Ziegler Monika | Liehr Thomas
Volume: 2
Issue: 1
Year: 2009
Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy

Author(s): Moraes Lucia | Cardoso Leila | Moura Vera | Moreira Miguel | Menezes Albert | Llerena Juan | Seuánez Héctor
Volume: 2
Issue: 1
Year: 2009
Chromosome territories, X;Y translocation and Premature Ovarian Failure: is there a relationship?

Author(s): Lissoni Sara | Baronchelli Simona | Villa Nicoletta | Lucchini Valeria | Betri Enrico | Cavalli Pietro | Dalprà Leda
Volume: 2
Issue: 1
Year: 2009
Application of molecular cytogenetic techniques to clarify apparently balanced complex chromosomal rearrangements in two patients with an abnormal phenotype: case report

Author(s): de Vree Paula | Simon Marleen | van Dooren Marieke | Stoevelaar Gerda | Hilkmann José | Rongen Michel | Huijbregts Gido | Verkerk Annemieke | Poddighe Pino
Volume: 2
Issue: 1
Year: 2009
Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 → qter) detected in an autistic boy

Author(s): Carreira Isabel | Melo Joana | Rodrigues Carlos | Backx Liesbeth | Vermeesch Joris | Weise Anja | Kosyakova Nadezda | Oliveira Guiomar | Matoso Eunice
Volume: 2
Issue: 1
Year: 2009
A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report

Author(s): Ogilvie Caroline | Ahn Joo | Mann Kathy | Roberts Roland | Flinter Frances
Volume: 2
Issue: 1
Year: 2009
De novo complex intra chromosomal rearrangement after ICSI: characterisation by BACs micro array-CGH

Author(s): Kasakyan Serdar | Lohmann Laurence | Aboura Azeddine | Quimsiyeh Mazin | Menezo Yves | Tachdjian Gerard | Benkhalifa Moncef
Volume: 1
Issue: 1
Year: 2008
Microdeletion syndromes disclose replication timing alterations of genes unrelated to the missing DNA

Author(s): Yeshaya Josepha | Amir Itay | Rimon Ayelet | Freedman Jane | Shohat Mordechai | Avivi Lydia
Volume: 2
Issue: 1
Year: 2009
Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation

Author(s): Auber Bernd | Bruemmer Verena | Zoll Barbara | Burfeind Peter | Boehm Detlef | Liehr Thomas | Brockmann Knut | Wilichowski Ekkehard | Argyriou Loukas | Bartels Iris
Volume: 2
Issue: 1
Year: 2009
MODY-like diabetes associated with an apparently balanced translocation: possible involvement of MPP7 gene and cell polarity in the pathogenesis of diabetes

Author(s): Bhoj Elizabeth | Romeo Stefano | Baroni Marco | Bartov Guy | Schultz Roger | Zinn Andrew
Volume: 2
Issue: 1
Year: 2009
Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH

Author(s): Tyson Christine | Qiao Ying | Harvard Chansonette | Liu Xudong | Bernier Francois | McGillivray Barbara | Farrell Sandra | Arbour Laura | Chudley Albert | Clarke Lorne | Gibson William | Dyack Sarah | McLeod Ross | Costa Teresa | VanAllen Margot | Yong Siu-li | Graham Gail | MacLeod Patrick | Patel Millan | Hurlburt Jane | Holden Jeanette | Lewis Suzanne | Rajcan-Separovic Evica
Volume: 1
Issue: 1
Year: 2008
Validation of DNA probes for molecular cytogenetics by mapping onto immobilized circular DNA

Author(s): Greulich-Bode Karin | Wang Mei | Rhein Andreas | Weier Jingly | Weier Heinz-Ulli
Volume: 1
Issue: 1
Year: 2008
Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male

Author(s): Kitsiou-Tzeli Sofia | Manolakos Emmanouil | Lagou Magdalini | Kontodiou Maria | Kosyakova Nadezda | Ewers Elisabeth | Weise Anja | Garas Antonios | Orru Sandro | Liehr Thomas | Metaxotou Aikaterini
Volume: 2
Issue: 1
Year: 2009
Meiotic and mitotic behaviour of a ring/deleted chromosome 22 in human embryos determined by preimplantation genetic diagnosis for a maternal carrier

Author(s): Mantzouratou Anna | Mania Anastasia | Apergi Marianna | Laver Sarah | Serhal Paul | Delhanty JDA
Volume: 2
Issue: 1
Year: 2009
Chromosomal mosaicism goes global

Author(s): Iourov Ivan | Vorsanova Svetlana | Yurov Yuri
Volume: 1
Issue: 1
Year: 2008
Rapid and reliable diagnosis of murine myeloid leukemia (ML) by FISH of peripheral blood smear using probe of PU. 1, a candidate ML tumor suppressor

Author(s): Kanda Reiko | Tsuji Satsuki | Ohmachi Yasushi | Ishida Yuka | Ban Nobuhiko | Shimada Yoshiya
Volume: 1
Issue: 1
Year: 2008
On the origin of trisomy 21 Down syndrome

Author(s): Hultén Maj | Patel Suketu | Tankimanova Maira | Westgren Magnus | Papadogiannakis Nikos | Jonsson Anna | Iwarsson Erik
Volume: 1
Issue: 1
Year: 2008
Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report

Author(s): Murthy Sabita | Malhotra Ashok | Jacob Preenu | Naveed Sehba | Al-Rowaished Eman | Mani Sara | Padariyakam Shabeer | Pramathan R | Nath Ravi | Al-Ali Mahmoud | Al-Gazali Lihadh
Volume: 1
Issue: 1
Year: 2008
New cytogenetically visible copy number variant in region 8q21.2

Author(s): Manvelyan Marina | Cremer Friedrich | Lancé Jeannette | Kläs Rüdiger | Kelbova Christina | Ramel Christian | Reichenbach Herbert | Schmidt Catharina | Ewers Elisabeth | Kreskowski Katharina | Ziegler Monika | Kosyakova Nadezda | Liehr Thomas
Volume: 4
Issue: 1
Year: 2011
Evidence-based genomic diagnosis characterized chromosomal and cryptic imbalances in 30 elderly patients with myelodysplastic syndrome and acute myeloid leukemia

Author(s): Bajaj Renu | Xu Fang | Xiang Bixia | Wilcox Katherine | DiAdamo Autumn | Kumar Rachana | Pietraszkiewicz Alexandra | Halene Stephanie | Li Peining
Volume: 4
Issue: 1
Year: 2011
Molecular cytogenetic analysis and clinical manifestations of a case with de novo mosaic ring chromosome 7

Author(s): Tsai Li-Ping | Lee Kuei-Fang | Fang Jye-Siung | Liu Ingrid
Volume: 4
Issue: 1
Year: 2011
Comparison of mitotic cell death by chromosome fragmentation to premature chromosome condensation

Author(s): Stevens Joshua | Abdallah Batoul | Regan Sarah | Liu Guo | Bremer Steven | Ye Christine | Heng Henry
Volume: 3
Issue: 1
Year: 2010
Partial trisomy 9p22 to 9p24.2 in combination with partial monosomy 9pter in a Syrian girl

Author(s): Al Achkar Walid | Wafa Abdulsamad | Moassass Faten | Liehr Thomas
Volume: 3
Issue: 1
Year: 2010
MLPA for confirmation of array CGH results and determination of inheritance

Author(s): Hills Alison | Ahn Joo | Donaghue Celia | Thomas Helen | Mann Kathy | Ogilvie Caroline
Volume: 3
Issue: 1
Year: 2010
Small blue round cell tumor of the interosseous membrane bearing a t(2;22)(q34;q12)/EWS-CREB1 translocation: a case report

Author(s): Pacheco Marina | Horsman Douglas | Hayes Malcolm | Clarkson Paul | Huwait Hassan | Nielsen Torsten
Volume: 3
Issue: 1
Year: 2010
A rare case of chronic myeloid leukemia with secondary chromosomal changes including partial trisomy 17q21 to 17qter and partial monosomy of 16p13.3

Author(s): Al Achkar Walid | Wafa Abdulsamad | Mkrtchyan Hasmik | Moassass Faten | Liehr Thomas
Volume: 3
Issue: 1
Year: 2010
Cytogenetic contribution to uniparental disomy (UPD)

Author(s): Liehr Thomas
Volume: 3
Issue: 1
Year: 2010
Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report

Author(s): Wu David | Wang Nicholas | Driscoll Jennette | Dorrani Naghmeh | Liu Dahai | Sigman Marian | Schanen N Carolyn
Volume: 2
Issue: 1
Year: 2009
Chromosome r(10)(p15.3q26.12) in a newborn child: case report

Author(s): Gunnarsson Cecilia | Graffmann Barbara | Jonasson Jon
Volume: 2
Issue: 1
Year: 2009
Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome)

Author(s): Manolakos Emmanouil | Orru Sandro | Neroutsou Rosita | Kefalas Konstantinos | Louizou Eirini | Papoulidis Ioannis | Thomaidis Loretta | Peitsidis Panagiotis | Sotiriou Sotirios | Kitsos George | Tsoplou Panagiota | Petersen Michael | Metaxotou Aikaterini
Volume: 2
Issue: 1
Year: 2009
Candidate metastasis suppressor genes uncovered by array comparative genomic hybridization in a mouse allograft model of prostate cancer

Author(s): Yi Yajun | Nandana Srinivas | Case Thomas | Nelson Colleen | Radmilovic Tatjana | Matusik Robert | Tsuchiya Karen
Volume: 2
Issue: 1
Year: 2009
Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

Author(s): Traylor Ryan | Fan Zheng | Hudson Beth | Rosenfeld Jill | Shaffer Lisa | Torchia Beth | Ballif Blake
Volume: 2
Issue: 1
Year: 2009
Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report

Author(s): Aktas Dilek | Weise Anja | Utine Eda | Alehan Dursun | Mrasek Kristin | von Eggeling Ferdinand | Thieme Heike | Tuncbilek Ergul | Liehr Thomas
Volume: 2
Issue: 1
Year: 2009
Automated detection of residual cells after sex-mismatched stem-cell transplantation – evidence for presence of disease-marker negative residual cells

Author(s): Erlecke Jörn | Hartmann Isabell | Hoffmann Martin | Kroll Torsten | Starke Heike | Heller Anita | Gloria Alexander | Sayer Herbert | Johannes Tilman | Claussen Uwe | Liehr Thomas | Loncarevic Ivan
Volume: 2
Issue: 1
Year: 2009
11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report

Author(s): Almind Gitte | Brøndum-Nielsen Karen | Bangsgaard Regitze | Baekgaard Peter | Grønskov Karen
Volume: 2
Issue: 1
Year: 2009
Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report

Author(s): Haj Roland | Jackson Kelly | Torchia Beth | Shaffer Lisa | Bejjani Bassem | Gowans Gordon | Ruff Michael
Volume: 2
Issue: 1
Year: 2009
The hierarchically organized splitting of chromosomal bands for all human chromosomes

Author(s): Kosyakova Nadezda | Weise Anja | Mrasek Kristin | Claussen Uwe | Liehr Thomas | Nelle Heike
Volume: 2
Issue: 1
Year: 2009
Unusually stable abnormal karyotype in a highly aggressive melanoma negative for telomerase activity

Author(s): Gagos Sarantis | Papaioannou George | Chiourea Maria | Merk-Loretti Sophie | Jefford Charles-Edward | Mikou Panagiota | Irminger-Finger Irmgard | Liossi Anna | Blouin Jean-Louis | Dahoun Sophie
Volume: 1
Issue: 1
Year: 2008
Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases

Author(s): Halder Ashutosh | Jain Manish | Kabra Madhulika | Gupta Neerja
Volume: 1
Issue: 1
Year: 2008
Chromosome distribution in human sperm – a 3D multicolor banding-study

Author(s): Manvelyan Marina | Hunstig Friederike | Bhatt Samarth | Mrasek Kristin | Pellestor Franck | Weise Anja | Simonyan Isabella | Aroutiounian Rouben | Liehr Thomas
Volume: 1
Issue: 1
Year: 2008
Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report

Author(s): Manolakos Emmanouil | Kosyakova Nadezda | Thomaidis Loreta | Neroutsou Rozita | Weise Anja | Mihalatos Markos | Orru Sandro | Kokotas Haris | Kitsos George | Liehr Thomas | Petersen Michael
Volume: 1
Issue: 1
Year: 2008
Position of chromosomes 18, 19, 21 and 22 in 3D-preserved interphase nuclei of human and gorilla and white hand gibbon

Author(s): Manvelyan Marina | Hunstig Friederike | Mrasek Kristin | Bhatt Samarth | Pellestor Franck | Weise Anja | Liehr Thomas
Volume: 1
Issue: 1
Year: 2008
Direct fluorescent labelling of clones by DOP PCR

Author(s): Backx Liesbeth | Thoelen Reinhilde | Van Esch Hilde | Vermeesch Joris
Volume: 1
Issue: 1
Year: 2008
X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanation

Author(s): Ferreira Susana | Matoso Eunice | Pinto Marta | Almeida Joana | Liehr Thomas | Melo Joana | Carreira Isabel
Volume: 3
Issue: 1
Year: 2010
Meiotic segregation and interchromosomal effect in the sperm of a double translocation carrier: a case report

Author(s): Juchniuk de Vozzi Maria | Santos Silvio | Pereira Ciro | Cuzzi Juliana | Laureano Lucimar | Franco Jr José | Martelli Lucia
Volume: 2
Issue: 1
Year: 2009
Novel complex translocation involving 5 different chromosomes in a chronic myeloid leukemia with Philadelphia chromosome: a case report

Author(s): Al Achkar Walid | Wafa Abdulsamad | Mkrtchyan Hasmik | Moassass Faten | Liehr Thomas
Volume: 2
Issue: 1
Year: 2009
GIN'n'CIN hypothesis of brain aging: deciphering the role of somatic genetic instabilities and neural aneuploidy during ontogeny

Author(s): Yurov Yuri | Vorsanova Svetlana | Iourov Ivan
Volume: 2
Issue: 1
Year: 2009
Unbalanced chromosome 1 abnormalities leading to partial trisomy 1q in four infants with Down syndrome and acute megakaryocytic leukemia

Author(s): Silva Maria | do Socorro Pombo-de-Oliveira Maria | Raimondi Susana | Mkrtchyan Hasmik | Abdelhay Eliana | de Figueiredo Amanda | de Souza Mariana | Garcia Daniela | de Ventura Eliane | de Sousa Adriana | Liehr Thomas
Volume: 2
Issue: 1
Year: 2009
Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy

Author(s): Manolakos Emmanouil | Sarri Catherine | Vetro Annalisa | Kefalas Konstantinos | Leze Eleni | Sofocleus Christalena | Kitsos George | Merou Konstantina | Kokotas Haris | Papadopoulou Anna | Attilakos Achilleas | Petersen Michael | Kitsiou-Tzeli Sofia
Volume: 4
Issue: 1
Year: 2011
Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male

Author(s): Kitsiou-Tzeli Sofia | Manolakos Emmanouil | Lagou Magdalini | Anagnostopoulou Katerina | Kontodiou Maria | Kosyakova Nadezda | Ewers Elisabeth | Weise Anja | Garas Antonios | Orru Sandro | Liehr Thomas | Metaxotou Aikaterini
Volume: 2
Issue: 1
Year: 2009
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