Results 251 to 260 of about 3,861,183 (367)

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

Cancer: From a Genetic Disorder to a Systemic Disease

Advanced Science, EarlyView.
Ada Hang‐Heng Wong, Yuming Hu
wiley   +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

A family case of a rare Xq28 duplication. [PDF]

Vavilovskii Zhurnal Genet Selektsii
Kopytova AE, Tolmacheva EN, Emelina DA, Glotov OS, Miroshnikova VV, Usenko TS, Vasilyeva OY, Makarov IV, Lobanov AD, Mazo GE, Pchelina SN, Lebedev IN.   +11 more
europepmc   +1 more source

Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome.

American Journal of Psychiatry, 2014
Maude Schneider, M. Debbané, A. Bassett, E. Chow, W. Fung, M. V. D. van den Bree, M. Owen, K. Murphy, Maria Niarchou, W. Kates, K. Antshel, W. Fremont, D. McDonald-McGinn, R. Gur, E. Zackai, J. Vorstman, Sasja N. Duijff, P. Klaassen, A. Swillen, D. Gothelf, T. Green, Abraham Weizman, Thérèse van Amelsvoort, L. Evers, E. Boot, V. Shashi, S. Hooper, C. Bearden, M. Jalbrzikowski, M. Armando, S. Vicari, D. Murphy, O. Ousley, L. Campbell, T. Simon, S. Eliez   +35 more
semanticscholar   +1 more source

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

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

Exploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification. [PDF]

Genet Sel Evol
Jacinto J, Letko A, Gentile A, Otter A, Floyd T, Collins R, Richey M, Carty H, Scholes S, Jones A, Fuller H, Häfliger IM, Strugnell B, Studer E, Benazzi C, Bolcato M, Starič J, Diana A, Weber J, Freick M, Lühken G, Tammen I, Kraft DCE, Lindgren CM, Sickinger M, Soto S, O'Rourke BA, Agerholm JS, Drögemüller C.   +28 more
europepmc   +1 more source

Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17.

Proceedings of the National Academy of Sciences of the United States of America, 1998
L. Clark, P. Poorkaj, Z. Wszolek, D. Geschwind, Z. Nasreddine, B. Miller, Diane Li, H. Payami, Fre Awert, K. Markopoulou, A. Andreadis, I. D’Souza, V. Lee, L. Reed, J. Trojanowski, V. Zhukareva, T. Bird, G. Schellenberg, K. Wilhelmsen   +18 more
semanticscholar   +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