Results 131 to 140 of about 125,953 (296)

Neurodevelopment Genes Encoding Olduvai Domains Link Myalgic Encephalomyelitis to Neuropsychiatric Disorders

Diagnostics
Background/Objectives: The aetiology of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS), a chronic and severe debilitating disease with a complex phenotype, remains elusive.
Mauricio Arcos-Burgos, Mauricio Arcos-Holzinger, Claudio Mastronardi, Mario A. Isaza-Ruget, Jorge I. Vélez, Donald P. Lewis, Hardip Patel, Brett A. Lidbury   +7 more
doaj   +1 more source

Frequent somatic mutations in MAP3K5 and MAP3K9 in metastatic melanoma identified by exome sequencing [PDF]

, 2011
Mitchell Stark, Susan L. Woods, Michael G. Gartside, Vanessa Bonazzi, Ken Dutton‐Regester, Lauren G. Aoude, Donald Chow, Chris Sereduk, Natalie M. Niemi, Nanyun Tang, Jonathan J. Ellis, Jeffrey G. Reid, Victoria Zismann, Sonika Tyagi, Donna M. Muzny, Irene Newsham, Yuanqing Wu, Jane M. Palmer, Thomas Pollak, David Youngkin, Bradford Brooks, Catherine Lanagan, Christopher Schmidt, Boštjan Kobe, Jeffrey P. MacKeigan, Hongwei Yin, Kevin M. Brown, Richard A. Gibbs, Jeffrey M. Trent, Nicholas K. Hayward   +29 more
openalex   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Bioinformatics pipeline for exome sequencing of complex diseases: variant discovery in 400 exomes

, 2014
Targeted exome sequencing by massively parallel sequencing is a powerful and affordable way to survey small to large portions of the genome for genetic variation. This strategy is an effective tool for analyze the genetic basis of diseases and traits that cannot be assessed with conventional gene-discovery strategies.
Sanchis-Juan Alba, Martínez-Barquero Vanesa, Javier Chaves Felipe, Marin-Garcia Pablo, Galán-Chilet Inmaculada, Perez-Gil Daniel, DeMarco-Solar Griselda, Bárbara García-García Ana, Pérez-Soriano Cristina   +8 more
openaire   +2 more sources

Genetic Analysis Workshop 17 mini-exome simulation [PDF]

, 2011
Laura Almasy, Thomas D. Dyer, Juan M. Peralta, Jack W. Kent, Jac Charlesworth, Joanne E. Curran, John Blangero   +6 more
openalex   +1 more source

Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some vascular anomalies, such as hamartomas associated with PTEN hamartoma tumor syndrome (PHTS) and fibroadipose vascular anomaly (FAVA, often due to PI3KCA variants), share similar clinical, radiological, and histopathological presentations that challenge clinicians to provide an accurate diagnosis.
Luciana Daniela Garlisi Torales, Kristina Woodis, Allison Britt, Lea F. Surrey, Abhay Srinivasan, Arupa Ganguly, Maria Limmina, Dong Li, Suzanne P. MacFarland, Denise M. Adams, Sarah E. Sheppard   +10 more
wiley   +1 more source

RET Germline Mutations Identified by Exome Sequencing in a Chinese Multiple Endocrine Neoplasia Type 2A/Familial Medullary Thyroid Carcinoma Family

, 2011
Xiao-Ping Qi, Juming Ma, Zhenfang Du, Rongbiao Ying, Jun Fei, Hang-Yang Jin, Jianshan Han, Jinquan Wang, Xiaoling Chen, Chun-Yue Chen, Wenting Liu, Jiajun Lu, Jianguo Zhang, Xianning Zhang   +13 more
openalex   +2 more sources

Exome sequencing allows for rapid gene identification in a Charcot‐Marie‐Tooth family [PDF]

, 2011
Gladys Montenegro, Eric Powell, Jiaqiang Huang, Fiorella Speziani, Yvonne J. K. Edwards, Gary W. Beecham, William Hulme, Carly E. Siskind, Jeffery M. Vance, Michael E. Shy, Stephan Züchner   +10 more
openalex   +1 more source

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single‐Center Experience

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan, Andrew M. George, Evan R. Hathaway, Carlyn Glatts, Jennifer M. Kalish   +4 more
wiley   +1 more source

Whole-exome sequencing of human pancreatic cancers and characterization of genomic instability caused by MLH1 haploinsufficiency and complete deficiency [PDF]

, 2011
Linghua Wang, Shuichi Tsutsumi, Tokuichi Kawaguchi, Koichi Nagasaki, Kenji Tatsuno, Shogo Yamamoto, Fei Sang, Kohtaro Sonoda, Minoru Sugawara, Akio Saiura, Seiko Hirono, Hiroki Yamaue, Yoshio Miki, Minoru Isomura, Yasushi Totoki, Genta Nagae, Takayuki Isagawa, Hiroki Ueda, Satsuki Murayama-Hosokawa, Tatsuhiro Shibata, Hiromi Sakamoto, Yae Kanai, Atsushi Kaneda, Tetsuo Noda, Hiroyuki Aburatani   +24 more
openalex   +1 more source