Zobrazeno 1 - 10
of 100
pro vyhledávání: '"A. H. Sabir"'
Publikováno v:
Case Reports in Genetics, Vol 2019 (2019)
We present two half siblings with significant short stature who proved a diagnostic challenge for several years. Radiological findings included subtle epiphyseal changes. The diagnosis was made through whole genome sequencing via the 100,000 genome p
Externí odkaz:
https://doaj.org/article/afb1b9cec3fc4287bd7a76dac19c0d94
Autor:
Ataf H. Sabir, Elizabeth Morley, Jameela Sheikh, Alistair D. Calder, Ana Beleza-Meireles, Moira S. Cheung, Alessandra Cocca, Mattias Jansson, Suzanne Lillis, Yogen Patel, Shu Yau, Christine M. Hall, Amaka C. Offiah, Melita Irving
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-14 (2021)
Abstract Background Skeletal dysplasia (SD) conditions are rare genetic diseases of the skeleton, encompassing a heterogeneous group of over 400 disorders, and represent approximately 5% of all congenital anomalies. Developments in genetic and treatm
Externí odkaz:
https://doaj.org/article/2ba7db3ffb1d4355907a9d8ece8ef189
Publikováno v:
Clinical Dysmorphology. 31:84-90
Autor:
Ataf H. Sabir, Melita Irving
Publikováno v:
British Medical Bulletin. 139:16-35
Background Genetic skeletal dysplasia conditions (GSDs) account for 5% of all birth defects. Until recently, targeted treatments were only available for select few conditions; 1 however, opportunities arising from developments in molecular diagnostic
Autor:
Bedia A. Barkoh, Sinchita Roy-Chowdhuri, Roland L. Bassett, Sharjeel H. Sabir, Rajyalakshmi Luthra, Erin Faber, John Stewart, Francis A. San Lucas, Horiana B. Grosu
Publikováno v:
Journal of Clinical Pathology. 75:612-619
AimsIn advanced-stage non-small-cell lung cancer (NSCLC), incomplete genotyping for guideline-recommended genomic biomarkers poses a significant challenge to making informed and timely clinical decisions. We report our institution’s experience in a
Autor:
Jordi Rodon, Abdulrazzak Zarifa, Phyu P. Aung, Funda Meric-Bernstam, Joud Hajjar, Sinchita Roy-Chowdhuri, Sharjeel H. Sabir, Brett W. Carter, Aung Naing, Siqing Fu, Milind Javle, Mingxuan Xu, Mohamed Abdelsalam, Jing Gong, Daniel D. Karp, Ignacio I. Wistuba, Rivka R. Colen, Bettzy Stephen, Eugene J. Koay, Hung Le, Denái R. Milton, Shubham Pant, Patrick Hwu, Priyadharsini Nagarajan, Vincent Yang, Anuja Jhingran, Coya Tapia, Ryan Sun, Yali Yang
Publikováno v:
J Immunother Precis Oncol
Introduction For maximum utility of molecular characterization by next-generation sequencing (NGS) and better understanding of tumor microenvironment with immune correlates analysis, biopsy specimens must yield adequate tumor tissue, and sequential b
Autor:
Jameela Sheikh, Ananya Singh, Moira Cheung, Ataf H. Sabir, Elizabeth Morley, Alessandra Cocca, Melita Irving
Publikováno v:
American Journal of Medical Genetics Part A. 185:73-82
Hypochondroplasia (HCH) is a rare autosomal dominant skeletal dysplasia condition caused by FGFR3 mutations leading to disproportionate short stature. Classically HCH presents in toddlers or school-age children, as limb-to-trunk disproportion and is
Publikováno v:
Clinical Dysmorphology. 29:177-181
Autor:
Safeen N. Arif, Hawar H. Sabir
Publikováno v:
Koya University Journal of Humanities and Social Sciences. 3:145-149
The problem that this paper deals with is that the unexplained or surprising endings in some of William Golding’s novels can affect the thematic structures of the novels concerned. Furthermore, they influence the nature of the messages desired to b
Autor:
Ahmed Elakkad, Steven Y. Huang, Sanjay Gupta, Bruno C. Odisio, Ashley Hill, Alda L. Tam, J. Kuban, Ethan Miller, Michael H. Kroll, Michael J. Overman, Armeen Mahvash, Sharjeel H. Sabir, Rahul A. Sheth
Publikováno v:
Abdominal Radiology. 45:2886-2894
Partial splenic artery embolization (PSAE) has shown promise in increasing platelet counts in cancer patients with hypersplenism-related thrombocytopenia. The purpose of this study was to identify response predictors and to longitudinally evaluate PS