Zobrazeno 1 - 10
of 39
pro vyhledávání: '"James Tepperberg"'
Autor:
Stuart Schwartz, Alexandra Arreola, Inder Gadi, Gloria Haskell, Patrick Lennon, Andrea Penton, Karen Phillips, Venkateswara Potluri, James Tepperberg
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100462- (2023)
Externí odkaz:
https://doaj.org/article/f1cac8c52efa44258fd9c409d2a7662b
Autor:
Kimberly M. Barr, Jeanne Meck, Yassmine Akkari, Sarah T. South, Nancy C. Rose, James Tepperberg, Athena M. Cherry, Hutton M. Kearney
Publikováno v:
Genetics in Medicine. 19:845-850
Disclaimer: ACMG Clinical Laboratory Practice Resources are developed primarily as an educational tool for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these practice resources is vol
Publikováno v:
Cancer Genetics. :S17
Autor:
James Tepperberg, Alexandra Arreola, Stuart Schwartz, Inder K. Gadi, Peter Papenhausen, Kenneth Heym
Publikováno v:
Cancer Genetics. :S2
Publikováno v:
American Journal of Medical Genetics Part A. 173:515-518
We describe a 5-day-old male with minor facial anomalies, a congenital laryngeal web, severe laryngomalacia, and prominent fixed flexion of the proximal interphalangeal joints of digits 2 through 5 bilaterally. A whole genome SNP microarray analysis
Autor:
Peter Papenhausen, Inder K. Gadi, Mary K. Rudd, Karen Phillips, Stuart Schwartz, Justin Schleede, James Tepperberg, Romela Pasion, Rachel D. Burnside, Huong Cabral
Publikováno v:
American Journal of Obstetrics and Gynecology. 218:S58-S59
Autor:
Arthur S. Aylsworth, Christie M. Turcott, James Tepperberg, Marie T. McDonald, Nathan D. Montgomery
Publikováno v:
American Journal of Medical Genetics Part A. 161:198-202
Potocki–Shaffer syndrome (PSS) is a rare disorder caused by haploinsufficiency of genes located on the proximal short arm of chromosome 11 (11p11.2p12). Classic features include biparietal foramina, multiple exostoses, profound hypotonia, dysmorphi
Autor:
Tammy Tsuchida, Beth A. Pletcher, Brynn Levy, James Tepperberg, David Tegay, Peter Papenhausen, Kurt Hirschhorn, Peter E. Warburton, Leena Ala-Kokko, Stuart Baker, Barbara Frederick, Alan L. Shanske, Odelia Nahum
Publikováno v:
Genetics in Medicine. 14:811-818
The aim of this study was to characterize the clinical phenotype of patients with tetrasomy of the distal 15q chromosome in the form of a neocentric marker chromosome and to evaluate whether the phenotype represents a new clinical syndrome or is a ph
Autor:
Peter E. Warburton, Dan Hasson, James Tepperberg, Fanny Cheung, John J.M. Engelen, Alicia Alonso, Peter Papenhausen
Publikováno v:
Chromosoma, 120(6), 621-632. Springer
Endogenous human centromeres form on megabase-sized arrays of tandemly repeated alpha satellite DNA. Human neocentromeres form epigenetically at ectopic sites devoid of alpha satellite DNA and permit analysis of centromeric DNA and chromatin organiza
Autor:
Diane L. Persons, Karl S. Theil, Daniel L. Van Dyke, Barbara K. Goodman, Debra Saxe, Jonathan P. Park, James Tepperberg, Michelle M Dolan, Kathleen S. Wilson, Karen D. Tsuchiya, Arthur R. Brothman, Daynna J. Wolff
Publikováno v:
Genetics in Medicine. 13:765-769
To evaluate the feasibility of administering a newly established proficiency test offered through the College of American Pathologists and the American College of Medical Genetics for genomic copy number assessment by microarray analysis, and to dete