Results 241 to 250 of about 3,786,126 (364)

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison, Ruth Braden, David J. Amor, Angela T. Morgan   +3 more
wiley   +1 more source

Evidence of association between bipolar disorder and Citron on chromosome 12q24 [PDF]

, 2005
Ariel M. Lyons‐Warren, Jennifer Chang, Rishi Balkissoon, Atsushi Kamiya, M Garant, John I. Nürnberger, William A. Scheftner, Theodore Reich, Francis J. McMahon, John R. Kelsoe, Elliot S. Gershon, William Coryell, William Byerley, Wade H. Berrettini, J. Raymond DePaulo, Melvin G. McInnis, Akira Sawa   +16 more
openalex   +1 more source

CLCN4‐Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Speech and language difficulties are a core feature of the CLCN4‐related neurodevelopmental condition, but these have not been well described. Here we systematically phenotype speech and language in 13 participants (10 female, aged 1 year 10 months–41 years 10 months) with pathogenic CLCN4 variants (12 missense de novo, 1 premature stop codon ...
Alexandra Garrett, Vera M. Kalscheuer, Rebeca Ridings Figueroa, Elizabeth E. Palmer, Angela T. Morgan   +4 more
wiley   +1 more source

Klinefelter syndrome and ADHD: a short systematic review. [PDF]

Front Psychiatry
Zamboni L, Fusina F, Casari R, Lugoboni F, Zandonai T, Cappelletti S, Federico A.   +6 more
europepmc   +1 more source

Paternal uniparental isodisomy of the entire chromosome 3 revealed in a person with no apparent phenotypic disorders [PDF]

, 2006
Peng Xiao, Pengyuan Liu, James L. Weber, Christopher J. Papasian, Robert R. Recker, Hong‐Wen Deng   +5 more
openalex   +1 more source

Error-prone chromosome-mediated spindle assembly favors chromosome segregation defects in human oocytes

Science, 2015
Z. Holubcová, M. Blayney, K. Elder, M. Schuh   +3 more
semanticscholar   +1 more source

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard   +2 more
wiley   +1 more source

Identification of a novel microdeletion at 9q21.13 in a family with epilepsy, intellectual disability, and speech disorders and literature review. [PDF]

Front Genet
Jiang L, Li J, Han A, Hou F, Wei X, Tian Y.   +5 more
europepmc   +1 more source

Early onset bipolar disorder: possible linkage to chromosome 9q34 [PDF]

, 2006
Stephen V. Faraone, Jessica Lasky‐Su, Stephen J. Glatt, Paul Van Eerdewegh, Ming T. Tsuang   +4 more
openalex   +1 more source

Chromosome 8p as a potential hub for developmental neuropsychiatric disorders: implications for schizophrenia, autism and cancer

Molecular Psychiatry, 2009
R. Tabarés-Seisdedos, J. Rubenstein
semanticscholar   +1 more source