Deletions in Xq28 in Two Boys with Myotubular Myopathy and Abnormal Genital Development Define a New Contiguous Gene Syndrome in a 430 kb Region

By Hu Ling-Jia   Laporte Jocelyn   Kress Wolfram   Kioschis Petra   Siebenhaar Renate   Poustka Annemarie   Fardeau Michel   Metzenberg Aida   Janssen Emiel A.   Thomas Nick   Mandel Jean Louis   Dahl Niklas  

Human Molecular Genetics, Vol. 5, Iss. 1, 1996-01 ,pp. : 139-143

Oxford University Press

Access to resources Recommend Favorite

Intellectual disability and epilepsy due to the K/L‐mediated Xq28 duplication: Further evidence of a distinct, dosage‐dependent phenotype

By  

American Journal Of Medical Genetics Part A, Vol. 176, Iss. 3, 2018-03 ,pp. : 551-559

John Wiley & Sons Inc

Access to resources Recommend Favorite

Duplication of a Gene-Rich Cluster between 16p11.1 and Xq28: A Novel Pericentromeric-Directed Mechanism for Paralogous Genome Evolution

By Eichler Evan E.   Lu Fei   Shen Ying   Antonacci Rachele   Jurecic Vesna   Doggett Norman A.   Moyzis Robert K.   Baldini Antonio   Gibbs Richard A.   Nelson David L.  

Human Molecular Genetics, Vol. 5, Iss. 7, 1996-01 ,pp. : 899-912

Oxford University Press

Access to resources Recommend Favorite

Long-Range Sequence Analysis in Xq28: Thirteen Known and Six Candidate Genes in 219.4 kb of High GC DNA Between the RCP/GCP and G6PD Loci

By Chen Ellson Y.  

Human Molecular Genetics, Vol. 5, Iss. 5, 1996-01 ,pp. : 659-668

Oxford University Press

Access to resources Recommend Favorite

Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28

By Gigarel Nadine   Frydman Nelly   Burlet Philippe   Kerbrat Violaine   Steffann Julie   Frydman René   Munnich Arnold   Ray Pierre  

Human Genetics, Vol. 114, Iss. 3, 2004-02 ,pp. : 298-305

Springer Publishing Company

Access to resources Recommend Favorite