Zobrazeno 1 - 10
of 39
pro vyhledávání: '"William K. Seltzer"'
Autor:
William K. Seltzer, Diana W. Bianchi, Nicola Flowers, Meredith Halks-Miller, Mark D. Pertile, Catalin Barbacioru, Darcy Vavrek, Sarah L. Kinnings
Publikováno v:
Sci Transl Med
Whole-genome sequencing (WGS) of maternal plasma cell-free DNA (cfDNA) can potentially evaluate all 24 chromosomes to identify abnormalities of the placenta, fetus, or pregnant woman. Current bioinformatics algorithms typically only report on chromos
Autor:
Sat Dev Batish, Jeffrey G. Jones, Feng Qian, York Pei, Gregory G. Germino, Zheng Lan, William K. Seltzer, Xosé M. Lens, Erica Allen, Terry Watnick, Miguel A. Garcia-Gonzalez, Susan K. Allen, Christopher M. Palatucci
Publikováno v:
Molecular Genetics and Metabolism. 92:160-167
Autosomal dominant polycystic kidney disease (ADPKD) is estimated to affect 1/600-1/1000 individuals worldwide. The disease is characterized by age dependent renal cyst formation that results in kidney failure during adulthood. Although ultrasound im
Autor:
Maimoona A. Zariwala, Richard J. Wenstrup, Girish V. Putcha, Kasinathan Muralidharan, Ishrag Khababa, Soma Das, Bai-Lin Wu, Stacey Withrow, Nancy Carson, Fred Schaefer, Jessica K. Booker, Karen E. Weck, Rong Mao, Michelle A. Springer, Iris M. Otani, Melissa A Dempsey, Margaret A. Kenna, Marcy L. Hoffmann, John H. Greinwald, Bassem A. Bejjani, Linda Jo Bone Jeng, John C. Carey, Stacey L. Bleoo, Elaine B. Spector, Iris Schrijver, Margaret Lilley, Heidi L. Rehm, William K. Seltzer, Julie M. Gastier-Foster
Publikováno v:
Genetics in Medicine. 9:413-426
Purpose: The aim of the study was to determine the actual GJB2 and GJB6 mutation frequencies in North America after several years of generalized testing for autosomal recessive nonsyndromic sensorineural hearing loss to help guide diagnostic testing
Autor:
Gabriel A. Lazarin, Eric A. Evans, William K. Seltzer, A. Scott Patterson, Jessica L. Jacobson, Kevin Iori, John R. Marshall, Shivani Nazareth, Imran S. Haque, Pasquale Patrizio, Balaji Srinivasan
Publikováno v:
Genetics in Medicine
Purpose: Recent developments in genomics have led to expanded carrier screening panels capable of assessing hundreds of causal mutations for genetic disease. This new technology enables simultaneous measurement of carrier frequencies for many disease
Autor:
Melinda L. Moseley, William K. Seltzer, Joline C. Dalton, T. Ashizawa, Massimo Pandolfo, John W. Day, Nicholas T. Potter, Laura P.W. Ranum, John B. Vincent, Kathy Gardner, Aubrey Milunsky, Yoshio Ikeda, Mikio Shoji, Thomas D. Bird
Publikováno v:
The American Journal of Human Genetics. 75(1):3-16
We reported elsewhere that an untranslated CTG expansion causes the dominantly inherited neurodegenerative disorder spinocerebellar ataxia type 8 (SCA8). SCA8 shows a complex inheritance pattern with extremes of incomplete penetrance, in which often
Autor:
Stanley Fahn, Astrid Rasmussen, Juliette Harris, Adam Rosenblatt, Jayalakshmi S. Mysore, Thomas D. Bird, Takayoshi Shimohata, Shoji Tsuji, Yoshiki Adachi, Ruth H. Walker, E. Almqvist, Christopher A. Ross, Nicholas T. Potter, Amanda Krause, Penny Greenstein, Tetsuo Ashizawa, Kazuhiro Nakaso, William K. Seltzer, Michael R. Hayden, Marcy E. MacDonald, Lisa Gourley, Susan E. Holmes, Kenji Nakashima, Elizabeth O'Hearn, Russell L. Margolis
Publikováno v:
Annals of Neurology. 56:670-674
Huntington's Disease-like 2 (HDL2) is a progressive, autosomal dominant, neurodegenerative disorder with marked clinical and pathological similarities to Huntington's disease (HD). The causal mutation is a CTG/CAG expansion mutation on chromosome 16q
Publikováno v:
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 34:208-210
Objective:We report a multigenerational family with uncomplicated hereditary spastic paraplegia type 4 and apparent anticipation. Genetic analysis of the proband revealed a frame shift mutation (5 base pair deletion) in exon 9 of the SPG4 gene encodi
Publikováno v:
Neurology. 50:1501-1504
The genetic basis for myotonic dystrophy (DM) is a CTG trinucleotide repeat expansion. The number of CTG repeats commonly increases in affected individuals of successive generations, in association with anticipation. We identified a large DM family i
Autor:
David K. Shea, Martha Nance, Nathalie McIntosh, William K. Seltzer, Nicholas T. Potter, Richard H. Myers, Tetsuo Ashizawa, Robin L. Bennett
Publikováno v:
The American Journal of Human Genetics. 62:1243-1247
Martha A. Nance, Hennepin County Medical Center, Minneapolis (cochair); William Seltzer, Athena Diagnostics, Worcester, Massachusetts (cochair); Tetsuo Ashizawa, Baylor College of Medicine, Houston; Robin Bennett, University of Washington, Seattle; N
Publikováno v:
Surgical Neurology. 46:253-256
It has been hypothesized that either qualitative or quantitative abnormalities in type III collagen may be involved in the pathogenesis of cerebral aneurysms. The current study investigated allele frequencies for the type III collagen gene in patient