Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains

Neuronal morphology in MeCP2 mouse models is intrinsically variable and depends on age, cell type, and Mecp2 mutation

(2013) I-Ting J. Wang et al.   NEUROBIOLOGY OF DISEASE

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery

(2012) Herbert A. Lubs et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rab GTPase localization and Rab cascades in Golgi transport

(2012) Suzanne R. Pfeffer   BIOCHEMICAL SOCIETY TRANSACTIONS

Sporadic male patients with intellectual disability: Contribution of X-chromosome copy number variants

(2012) M. Isrie et al.   European Journal of Medical Genetics

An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity

(2012) Kyoko Takano et al.   HUMAN MOLECULAR GENETICS

Loss of BRCC3 Deubiquitinating Enzyme Leads to Abnormal Angiogenesis and Is Associated with Syndromic Moyamoya

(2011) Snaigune Miskinyte et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions

(2011) A. W. El-Hattab et al.   JOURNAL OF MEDICAL GENETICS

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

(2010) Maila Giannandrea et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetics of Early Onset Cognitive Impairment

(2010) Hans Hilger Ropers   Annual Review of Genomics and Human Genetics

Neuronal loss in Pelizaeus–Merzbacher disease differs in various mutations of the proteolipid protein 1

(2009) Anders A. F. Sima et al.   ACTA NEUROPATHOLOGICA

Dosage-Dependent Severity of the Phenotype in Patients with Mental Retardation Due to a Recurrent Copy-Number Gain at Xq28 Mediated by an Unusual Recombination

(2009) Joke Vandewalle et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

(2008) Guy Froyen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair

(2008) M. Bauters et al.   GENOME RESEARCH