Results 251 to 260 of about 3,786,126 (364)

Identification of a Second‐Hit Brain Somatic DEPDC5 Variant Supports Causality of a DEPDC5 Germline Variant of Uncertain Significance. Time for a Classification Update?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline variants in DEPDC5 are a cause of familial focal epilepsy with variable foci. Affected individuals may have focal cortical dysplasia if a second brain somatic variant occurs. As access to brain tissue is limited, the second somatic hit in the brain is usually presumed if a clear pathogenic germline variant is present. Here, we present
Ala'a Alsayed, Zainab Hakim, Daria Merrikh, Maryam Khanbabaei, Navprabhjot Kaur, Walter Hader, Tyler Soule, Setareh Ashtiani, Grace Polanco‐Tovar, Morris Scantlebury, Hamed Rahi, Yang Cao, Jennifer A. Chan, Juan P. Appendino, Gerald Pfeffer, Ping Yee Billie Au, Karl Martin Klein   +16 more
wiley   +1 more source

Neurological Disease Syndrome Caused by a STAG1 Gene Variant: A Case Report and Literature Review. [PDF]

Int J Dev Neurosci
Zhang Q, Ren Y, Su S, Hu W, Zhang H, Zhang T.   +5 more
europepmc   +1 more source

Genome Scan for Loci Predisposing to Anxiety Disorders Using a Novel Multivariate Approach: Strong Evidence for a Chromosome 4 Risk Locus [PDF]

, 2006
Belhassen Kâabi, Joel Gelernter, Scott W. Woods, Andrew W. Goddard, Grier P. Page, Robert C. Elston   +5 more
openalex   +1 more source

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

Nature Genetics, 2007
C. Durand, C. Betancur, Tobias M. Boeckers, Juergen Bockmann, P. Chaste, F. Fauchereau, G. Nygren, M. Råstam, I. Gillberg, H. Anckarsäter, E. Sponheim, Hany Goubran‐Botros, R. Delorme, N. Chabane, M. Mouren-Siméoni, P. de Mas, E. Bieth, B. Rogé, D. Heron, L. Burglen, C. Gillberg, M. Leboyer, T. Bourgeron   +22 more
semanticscholar   +1 more source

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell, Ebuka Onyenobi, Joshua P. Lewis, Brady Gaynor, James A. Perry, Kristin Maloney, Jeffrey R. O'Connell, Jessica Tiner, Amber L. Beitelshees, Cristopher V. Van Hout, Patrick F. McArdle, Huichun Xu, Erik G. Puffenberger, Karlla W. Brigatti, Melanie Daue, Hilary B. Whitlatch, Anna Alkelai, Alejandro A. Schäffer, John Overton, Elizabeth A. Streeten, Toni I. Pollin, Alan R. Shuldiner   +21 more
wiley   +1 more source

18q Deletion (de Grouchy Syndrome) in Rural Romania: A Case Report and Healthcare System Challenges. [PDF]

Reports (MDPI)
Matei MI, Vlad RM.
europepmc   +1 more source

Cell-free fetal DNA: the new tool in fetal medicine. [PDF]

, 2014
Chitty, LS, Everett, TR
core   +1 more source

Assessing Pubertal Timing, Duration, and Related Characteristics in ASXL‐Related Disorders: A Cross‐Sectional Caregiver Survey Analysis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Limited studies have been conducted on pubertal development in populations with pre‐existing medical conditions. More than 20‐fold increased risk of early puberty has been reported in neurodevelopmental disorders; however, this is a heterogeneous group.
Amanda Piring, Rebecca Hicks, Julia Sloan, Estefania Ramires‐Sanchez, Bianca E. Russell   +4 more
wiley   +1 more source

Turner Syndrome Complicated by a <i>NONO</i> Gene Variant. [PDF]

JCEM Case Rep
Kanouse A, Salemi P.
europepmc   +1 more source

Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes, Sanjana Karamcheti, Álvaro Martín Rodriguez, Anna‐Kaisa Niemi, Lynne M. Bird   +4 more
wiley   +1 more source