Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Srirangan, Sampath"'
Autor:
Jennifer B. Phillips, Bernardo Blanco-Sanchez, Jennifer J. Lentz, Alexandra Tallafuss, Kornnika Khanobdee, Srirangan Sampath, Zachary G. Jacobs, Philip F. Han, Monalisa Mishra, Tom A. Titus, David S. Williams, Bronya J. Keats, Philip Washbourne, Monte Westerfield
Publikováno v:
Disease Models & Mechanisms, Vol 4, Iss 6, Pp 786-800 (2011)
SUMMARY Usher syndrome is the most prevalent cause of hereditary deaf-blindness, characterized by congenital sensorineural hearing impairment and progressive photoreceptor degeneration beginning in childhood or adolescence. Diagnosis and management o
Externí odkaz:
https://doaj.org/article/743dcfa0d3c64bbea9563aae0dc14417
Autor:
Srirangan Sampath, Shambu Bhat, Simone Gupta, Ashley O'Connor, Andrew B West, Dan E Arking, Aravinda Chakravarti
Publikováno v:
PLoS ONE, Vol 8, Iss 10, p e77906 (2013)
Multiple lines of genetic evidence suggest a role for CNTNAP2 in autism. To assess its population impact we studied 2148 common single nucleotide polymorphisms (SNPs) using transmission disequilibrium test (TDT) across the entire ~3.3 Mb CNTNAP2 locu
Externí odkaz:
https://doaj.org/article/c7e98b8660144448931c6dd69f8727b6
Autor:
Srirangan Sampath, Shambu Bhat, Simone Gupta, Ashley O’Connor, Andrew B. West, Dan E. Arking, Aravinda Chakravarti
Publikováno v:
PLoS ONE, Vol 8, Iss 12 (2013)
Externí odkaz:
https://doaj.org/article/186530e3e6f44fdbb6678c866b8fbdff
Autor:
James C. Hyland, Kirsten Wood, Bradley J. Cheek, Srirangan Sampath, Yves Lacassie, Marie Haymon, Regina M. Zambrano, Christopher Arcement, Jessica Steinkampf
Publikováno v:
Clinical Case Reports
Key Clinical Message We report on a newborn with IUGR, rhizomelic dwarfism, and suspected chondrodysplasia punctata. At birth, OI was suspected; however, a skeletal survey suggested ML II alpha/beta. Sequencing revealed compound heterozygosity for a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb9337ef9f89491806493741d091a8bb
https://doi.org/10.1002/ccr3.835
https://doi.org/10.1002/ccr3.835
Autor:
Korbinian M. Riedhammer, Ayman W. El-Hattab, Fowzan S. Alkuraya, Hessa S. Alsaif, Mirjana Gusic, Timothy Jicinsky, Maha Abdulrahim, Moeenaldeen Al-Sayed, Jehan Suleiman, Weimin Bi, Manal Nicolas-Jilwan, Nabil Moghrabi, Laurie Werner, Srirangan Sampath, Anna L. Burgemeister, Melinda Mundt
Publikováno v:
Hum. Mutat. 40, 1985-1992 (2019)
We report four unrelated children with homozygous loss-of-function variants in TASP1 and an overlapping phenotype comprising developmental delay with hypotonia and microcephaly, feeding difficulties with failure-to-thrive, recurrent respiratory infec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4d2079d27f4f4ebe27c3ad9c72182f9
https://pubmed.ncbi.nlm.nih.gov/31209944
https://pubmed.ncbi.nlm.nih.gov/31209944
Autor:
Margaret A. Chen, Richard J. Rodenburg, Curtis R. Coughlin, Roberto Colombo, Saskia B. Wortmann, George E. Tiller, Bruno Maranda, Leo A. J. Kluijtmans, James Pitt, Bader Alhaddad, Alessandro Pontoglio, Lorenzo D. Botto, Stephanie Grűnewald, Ron A. Wevers, Maria Descartes, Srirangan Sampath, Emil F. Pai, Tatiana Yuzyuk, Catherine Potente, Philippa B. Mills
Publikováno v:
J. Inherit. Metab. Dis. 40, 423-431 (2017)
Journal of Inherited Metabolic Disease, 40, 423-431
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 40, 3, pp. 423-431
Journal of Inherited Metabolic Disease, 40, 423-431
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 40, 3, pp. 423-431
Contains fulltext : 174066.pdf (Publisher’s version ) (Open Access) BACKGROUND: Elevated urinary excretion of orotic acid is associated with treatable disorders of the urea cycle and pyrimidine metabolism. Establishing the correct and timely diagno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6198d5b2a8c2e44342d9f23860584eca
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=50555
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=50555
Autor:
Erin K. Roney, Sau Wai Cheung, Carlos A. Bacino, Ankita Patel, Srirangan Sampath, Justin Pham, James R. Lupski, Weimin Bi, Tomasz Gambin, Patricia Hixson, Seema R. Lalani, Amber Pursley, Pawel Stankiewicz, Chad A. Shaw, Sung-Hae L. Kang
Publikováno v:
European Journal of Human Genetics
Somatic chromosomal mosaicism arising from post-zygotic errors is known to cause several well-defined genetic syndromes as well as contribute to phenotypic variation in diseases. However, somatic mosaicism is often under-diagnosed due to challenges i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60960dc60b4815184cf9e2f4f418f758
http://europepmc.org/articles/PMC4350600
http://europepmc.org/articles/PMC4350600
Autor:
William J. Craigen, Ankita Patel, Sherry S. Vinson, M. Williams, Sau Wai Cheung, Sung Hae L. Kang, Patricia I. Bader, James R. Lupski, Przemyslaw Szafranski, John A. Phillips, Vickie L. Hannig, Avinash V. Dharmadhikari, John W. Belmont, Srirangan Sampath, Richard E. Person, Tyler Reimschisel, Siddharth K. Prakash, Pawel Stankiewicz, Weimin Bi, Angus A. Wilfong
Publikováno v:
Human Molecular Genetics. 21:3345-3355
We have identified a rare small (∼450 kb unique sequence) recurrent deletion in a previously linked attention-deficit hyperactivity disorder (ADHD) locus at 2q21.1 in five unrelated families with developmental delay (DD)/intellectual disability (ID
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::078b95e0bfc02d4932a75ba9ae518a43
https://doi.org/10.1093/hmg/dds166
https://doi.org/10.1093/hmg/dds166
Autor:
Philip Washbourne, Philip F. Han, Srirangan Sampath, Alexandra Tallafuss, Zachary G. Jacobs, Bernardo Blanco-Sánchez, Kornnika Khanobdee, Monte Westerfield, Monalisa Mishra, Jennifer B. Phillips, David S. Williams, Jennifer J Lentz, Bronya J.B. Keats, Tom A. Titus
Publikováno v:
Disease Models & Mechanisms, Vol 4, Iss 6, Pp 786-800 (2011)
Disease Models & Mechanisms
Disease Models & Mechanisms
SUMMARY Usher syndrome is the most prevalent cause of hereditary deaf-blindness, characterized by congenital sensorineural hearing impairment and progressive photoreceptor degeneration beginning in childhood or adolescence. Diagnosis and management o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbc281dcd83ff918277e9152a53a32c1
https://doi.org/10.1242/dmm.006429
https://doi.org/10.1242/dmm.006429
Publikováno v:
European journal of medical genetics. 57(10)
We report an African-American family that was identified after the proposita was referred for diagnostic evaluation at 4½ months with a history of Hirschsprung and dysmorphic features typical of Waardenburg syndrome (WS). Family evaluation revealed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71fb8713490c7efe81e6a2ccd839fecb
https://pubmed.ncbi.nlm.nih.gov/25118007
https://pubmed.ncbi.nlm.nih.gov/25118007