Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Gordon C Gowans"'
Autor:
Ariel M Pani, Holly H Hobart, Colleen A Morris, Carolyn B Mervis, Patricia Bray-Ward, Kendra W Kimberley, Cecilia M Rios, Robin C Clark, Maricela D Gulbronson, Gordon C Gowans, Ronald G Gregg
Publikováno v:
PLoS ONE, Vol 5, Iss 8, p e12349 (2010)
Intellectual disability (ID) affects 2-3% of the population and may occur with or without multiple congenital anomalies (MCA) or other medical conditions. Established genetic syndromes and visible chromosome abnormalities account for a substantial pe
Externí odkaz:
https://doaj.org/article/3ca61bbe14914e18b2633f5b2005b84b
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females
Autor:
Vidya Krishnamurthy, Orly Elpeleg, Kristin G. Monaghan, Aida Telegrafi, Marcia C. Willing, Yufeng Shen, Tomi L. Toler, Kyle Retterer, Wendy K. Chung, Jennifer M. Bain, Susan Sklower Brooks, Ashley Wilson, Gordon C. Gowans, Bruria Ben-Zev, Leigh Anne Autullo, Christina Botti, Megan T. Cho
Publikováno v:
The American Journal of Human Genetics. 99:728-734
Via whole-exome sequencing, we identified six females from independent families with a common neurodevelopmental phenotype including developmental delay, intellectual disability, autism, hypotonia, and seizures, all with de novo predicted deleterious
Autor:
Sarah H. Elsea, Gordon C. Gowans, Stephen R. Williams, Vazken M. Der Kaloustian, R. Ellen Magenis, Sara Zondag, Helga V. Toriello, Micheala A. Aldred, D. Ross McLeod, Fahed Halal
Publikováno v:
The American Journal of Human Genetics. 87:219-228
Brachydactyly mental retardation syndrome (BDMR) is associated with a deletion involving chromosome 2q37. BDMR presents with a range of features, including intellectual disabilities, developmental delays, behavioral abnormalities, sleep disturbance,
Autor:
Aaron Theisen, Dennis Bartholomew, Kim L. McBride, Wendy E. Smith, Jean P. Pfotenhauer, Caroline Astbury, Pawel Stankiewicz, Lisa G. Shaffer, Julia A. Keene, William Gallentine, John A. Phillips, Blake C. Ballif, M. Katharine Rudd, Kate P. Shane, Pamela L. Brock, Bassem A. Bejjani, Robert E. Pyatt, Ryan N. Traylor, Valerie Banks, Jill A. Rosenfeld, Margaret P Adam, Julie M. Gastier-Foster, Devon Lamb Thrush, Gordon C. Gowans
Publikováno v:
The American Journal of Human Genetics. 86:454-461
Segmental duplications, which comprise approximately 5%-10% of the human genome, are known to mediate medically relevant deletions, duplications, and inversions through nonallelic homologous recombination (NAHR) and have been suggested to be hot spot
Autor:
Beatrice N. French, Blake C. Ballif, Jill A. Rosenfeld, Santhosh Girirajan, Eric Haan, Jennifer Kussmann, Shane McCarthy, Valerie Banks, Darren Farber, Carl Baker, John B. Moeschler, Alisha Biser, Kathryn Platky, Bhuwan P. Garg, Jonathan Sebat, Rosemarie Smith, Donna M. McDonald-McGinn, Brian L. Browning, Joe J. Hoo, Jennifer Dickerson, Jillian R Ozmore, Yves Lacassie, Urvashi Surti, Luis F. Escobar, Dima El-Khechen, Andy Itsara, Marie T. McDonald, Corrado Romano, Gregory M. Cooper, David D. Weaver, Bonnie A. Salbert, Wendy E. Smith, Tamim H. Shaikh, Lisa G. Shaffer, Paul R. Mark, Sara Ellingwood, Francesca Antonacci, Jeffrey M. Kidd, Alexander Asamoah, Evan E. Eichler, Cindy Hudson, Marco Fichera, Lynn E. DeLisi, Gordon C. Gowans, Jessica J. Wetherbee, Jozef Gecz, Mary Claire King, Elaine H. Zackai, Jerome L. Gorski, Priscillia Siswara, John P. Johnson, Kathryn Friend, Matthew A. Deardorff, Laura Vives, Deborah L. Levy, Sharon R. Browning, Diane E. Dickel, Heather C Mefford, Tom Walsh
Publikováno v:
Nature genetics, vol 42, iss 3
Girirajan, S; Rosenfeld, JA; Cooper, GM; Antonacci, F; Siswara, P; Itsara, A; et al.(2010). A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nature Genetics, 42(3), 203-209. doi: 10.1038/ng.534. Lawrence Berkeley National Laboratory: Retrieved from: http://www.escholarship.org/uc/item/89w1x55x
Nature genetics
Girirajan, S; Rosenfeld, JA; Cooper, GM; Antonacci, F; Siswara, P; Itsara, A; et al.(2010). A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nature Genetics, 42(3), 203-209. doi: 10.1038/ng.534. Lawrence Berkeley National Laboratory: Retrieved from: http://www.escholarship.org/uc/item/89w1x55x
Nature genetics
We report the identification of a recurrent, 520-kb 16p12.1 microdeletion associated with childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases compared with 2 of 8,540 controls (P = 0.0009, OR = 7.2) and replicated in a
Publikováno v:
American Journal of Medical Genetics. :376-380
Partial duplication of chromosome 3q is a well-described condition of multiple congenital anomalies and developmental delay that resembles the Brachmann-de Lange syndrome. Similarly, an emerging phenotype of a distal 5q deletion syndrome has recently
Publikováno v:
American Journal of Medical Genetics. 111:307-312
We report on monozygotic (MZ) twins with a de novo chromosome abnormality consisting of a partial duplication of chromosome 4 (q25-qter) and deletion of chromosome 1p36. These infants had dysmorphic facial features and other clinical manifestations s
Publikováno v:
American Journal of Medical Genetics. 110:320-323
We report on two patients with an unusual combination of multiple congenital anomalies including holoprosencephaly, encephalocele, and additional defects commonly observed in the VACTERL and schisis “associations.” One of the infants had a chromo
Autor:
Maria Orera, María Ángeles Mori, Elena Vallespín, Chad R. Haldeman-Englert, Alberto Fernández-Jaén, Xia Li, Alberto Plaja, Lani Devaney, María Palomares-Bralo, Alicia Delicado, Rubén Martín-Arenas, Salmo Raskin, Stephanie E. Vallee, Esther Corbacho-Fernández, Rocío Mena, Miguel Del Campo, Jay W. Ellison, Holly Dubbs, Jill A. Rosenfeld, Fernando Santos-Simarro, Sixto García-Miñaur, Sulagna C. Saitta, Lluís Armengol, M. Carmen Crespo, Carlos A. Venegas-Vega, Inmaculada Rueda-Arenas, Jair Tenorio, Victoria E. Fernandez-Montano, Fernando Fernández-Ramírez, Karen W. Gripp, Blanca Marín Fernández, María Luisa de Torres, Pablo Lapunzina, Gordon C. Gowans, Elizabeth Denenberg, Julián Nevado, M Carmen Sanchez-Hombre, Mary Beth Dinulos, Duban B Bénédicte
Publikováno v:
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Array comparative genomic hybridization (aCGH) is a powerful genetic tool that has enabled the identification of novel imbalances in individuals with intellectual disability (ID), autistic disorders and congenital malformations. Here we report a 'gen
Autor:
Alexander Asamoah, Kathryn C. Platky, Gordon C. Gowans, Cecilia Rajakaruna, J Margaret, Patricia Mouchrani, Monika Thapa, Joseph H. Hersh
Publikováno v:
American journal of medical genetics. Part A. (4)
Pure/direct duplications on the long arm of chromosome 4 represent an infrequent chromosomal finding. Description of clinical findings in 30 patients has resulted in defining the 4q-associated phenotype. However, such duplications have not been molec