An interstitial duplication at 2q24.3 involving the SCN1A, SCN2A, SCN3A genes associated with infantile epilepsy

JOURNAL ARTICLE published April 2011 in American Journal of Medical Genetics Part A

Authors: Gerald Raymond | Elizabeth Wohler | Carolyn Dinsmore | Jeanne Cox | Michael Johnston | Denise Batista | Tao Wang

Severe lower limb defects in exstrophy of the cloaca

JOURNAL ARTICLE published 30 July 2004 in American Journal of Medical Genetics Part A

Authors: Mahim Jain | David D. Weaver

Feingold syndrome: Clinical review and genetic mapping

JOURNAL ARTICLE published November 2003 in American Journal of Medical Genetics Part A

Authors: Jacopo Celli | Hans van Bokhoven | Han G. Brunner

Intellectual disability, midface hypoplasia, facial hypotonia, and alport syndrome are associated with a deletion in Xq22.3

JOURNAL ARTICLE published March 2010 in American Journal of Medical Genetics Part A

Authors: Jayson D. Rodriguez | Shambhu S. Bhat | Ilaria Meloni | Sydney Ladd | Nancy D. Leslie | Emanuel O. Doyne | Alessandra Renieri | Barbara R. DuPont | Roger E. Stevenson | Charles E. Schwartz | Anand K. Srivastava

Medical care of adolescents and women with Rett syndrome: An Italian study

JOURNAL ARTICLE published January 2012 in American Journal of Medical Genetics Part A

Authors: Aglaia Vignoli | Francesca La Briola | Angela Peron | Katherine Turner | Miriam Savini | Francesca Cogliati | Silvia Russo | Maria Paola Canevini

Autosomal‐recessive syndrome with alopecia, hypogonadism, progressive extra‐pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1

JOURNAL ARTICLE published 15 January 2007 in American Journal of Medical Genetics Part A

Authors: Abdulaziz Al‐Semari | Saeed Bohlega

Dentin phosphoprotein compound mutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III

JOURNAL ARTICLE published 30 January 2005 in American Journal of Medical Genetics Part A

Research funded by National Institute of Dental and Craniofacial Research, National Institute of Health (DE09875)

Authors: Juan Dong | TingTing Gu | Leticia Jeffords | Mary MacDougall

Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis

JOURNAL ARTICLE published 15 March 2007 in American Journal of Medical Genetics Part A

Authors: Alexandre R. Vieira | Adriana Modesto | Raquel Meira | Anna Renata Schneider Barbosa | Andrew C. Lidral | Jeffrey C. Murray

The male phenotype in osteopathia striata congenita with cranial sclerosis

JOURNAL ARTICLE published October 2011 in American Journal of Medical Genetics Part A

Authors: Sarah K. Holman | Phil Daniel | Zandra A. Jenkins | Rachel L. Herron | Tim Morgan | Ravi Savarirayan | C.W. Chow | Axel Bohring | Annette Mosel | Didier Lacombe | Bernhard Steiner | Thomas Schmitt‐Mechelke | Barbara Schroter | Annick Raas‐Rothschild | Sixto Garcia Miñaur | Mary Porteous | Michael Parker | Oliver Quarrell | Dagmar Tapon | Valérie Cormier‐Daire | Sahar Mansour | Ruth Nash | Laurence A. Bindoff | Torunn Fiskerstrand | Stephen P. Robertson

Spondylo‐ocular syndrome: A new entity involving the eye and spine

JOURNAL ARTICLE published 15 March 2006 in American Journal of Medical Genetics Part A

Authors: Yasemin Alanay | Andrea Superti‐Furga | Fatih Karel | Ergül Tunçbilek

Immunohistochemical FMRP studies in a full mutated female fetus

JOURNAL ARTICLE published 15 January 2004 in American Journal of Medical Genetics Part A

Research funded by La Marató de (TV3 (98/0310),FIS 00/577)

Authors: M. Rifé | A. Nadal | M. Milà | R. Willemsen

Descriptive epidemiology of Cornelia de Lange syndrome in Europe

JOURNAL ARTICLE published January 2008 in American Journal of Medical Genetics Part A

Authors: Ingeborg Barisic | Visnja Tokic | Maria Loane | Fabrizio Bianchi | Eliza Calzolari | Ester Garne | Diana Wellesley | Helen Dolk | EUROCAT Working Group

A susceptibility locus on 1p32–1p34 for congenital macrostomia in a Chinese family and identification of a novel PTCH2 mutation

JOURNAL ARTICLE published March 2009 in American Journal of Medical Genetics Part A

Authors: Zhipeng Fan | Juan Du | Huimin Liu | Honglai Zhang | Andrzej A Dlugosz | Cun‐Yu Wang | Ming Fan | Yan Shen | Songlin Wang

Syndrome of congenital cataracts, sensorineural deafness, Down syndrome‐like facial appearance, short stature, and mental retardation: Two additional cases

JOURNAL ARTICLE published November 2007 in American Journal of Medical Genetics Part A

Authors: Kim Keppler‐Noreuil | Judy Welch | Katherine Baker‐Lange

Late‐onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance

JOURNAL ARTICLE published 15 October 2007 in American Journal of Medical Genetics Part A

Authors: Anne Chun‐Hui Tsai | Chantal F. Morel | Gunter Scharer | Michael Yang | Jordan P. Lerner‐Ellis | David S. Rosenblatt | Janet A. Thomas

Relationship between dysmorphic features and general cognitive function in children with fetal alcohol spectrum disorders

JOURNAL ARTICLE published 15 December 2007 in American Journal of Medical Genetics Part A

Authors: Nina Ervalahti | Marit Korkman | Åse Fagerlund | Ilona Autti‐Rämö | Leena Loimu | H. Eugene Hoyme

Application of whole‐exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability

JOURNAL ARTICLE published January 2017 in American Journal of Medical Genetics Part A

Research funded by French Ministry of Health (A00103-42)

Authors: Alexandra Gauthier‐Vasserot | Christel Thauvin‐Robinet | Ange‐Line Bruel | Yannis Duffourd | Judith St‐Onge | Thibaud Jouan | Jean‐Baptiste Rivière | Delphine Heron | Jean Donadieu | Christine Bellanné‐Chantelot | Claire Briandet | Frédéric Huet | Paul Kuentz | Daphné Lehalle | Laurence Duplomb‐Jego | Elodie Gautier | Isabelle Maystadt | Lucile Pinson | Daniel Amram | Salima El Chehadeh | Judith Melki | Sophia Julia | Laurence Faivre | Julien Thevenon

Fetal alcohol spectrum disorders in Finland: Clinical delineation of 77 older children and adolescents

JOURNAL ARTICLE published 15 January 2006 in American Journal of Medical Genetics Part A

Authors: Ilona Autti‐Rämö | Åse Fagerlund | Nina Ervalahti | Leena Loimu | Marit Korkman | H. Eugene Hoyme

A homozygous missense variant in the PLCB4 gene causes severe phenotype of auriculocondylar syndrome type 2

JOURNAL ARTICLE published November 2023 in American Journal of Medical Genetics Part A

Authors: Khawla El Fizazi | Abdelhamid Bouramtane | Meriame Abbassi | Yasser Ali El Asri | Omar Askander | Mustapha El Fahime | Karim Ouldim | Mohammed Ridal | Laila Bouguenouch

Self‐improving dystrophic epidermolysis bullosa: First report of clinical, molecular, and genetic characterization of five patients from Southeast Asia

JOURNAL ARTICLE published February 2021 in American Journal of Medical Genetics Part A

Research funded by National Medical Research Council (NMRC/CG/006/2013,NMRC/CG/M003/2017) | Science and Engineering Research Council (A*STAR‐BMRC‐EDB IAF‐PP (H17/01/a0/004),A*STAR‐BMRC‐EDB IAF‐SPF (SPF2013/004),A*STAR‐BMRC‐EDB IAF‐SPF GODAFIT (SFP2012/005))

Authors: Priya Bishnoi | Yi Zhen Ng | Heming Wei | Ene‐Choo Tan | Declan P. Lunny | X. F. Colin C. Wong | Leong Kin Fon | Srie Prihianti Gondokaryono | Inne Arline Diana | John E. A. Common | Mark J. A. Koh | E. Birgitte Lane