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Ishwar C. Verma
Researcher at All India Institute of Medical Sciences
Publications - 194
Citations - 2411
Ishwar C. Verma is an academic researcher from All India Institute of Medical Sciences. The author has contributed to research in topics: Population & Prenatal diagnosis. The author has an hindex of 23, co-authored 189 publications receiving 1987 citations. Previous affiliations of Ishwar C. Verma include Jawaharlal Institute of Postgraduate Medical Education and Research.
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SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family.
Hiroto Fujigasaki,Ishwar C. Verma,Agnès Camuzat,Russell L. Margolis,Cecilia Zander,Anne-Sophie Lebre,Laure Jamot,Renu Saxena,Ish Anand,Susan E. Holmes,Christopher A. Ross,Alexandra Durr,Alexis Brice +12 more
TL;DR: The association of the PPP2R2B CAG repeat expansion with disease in this new family provides additional evidence that the mutation is causative.
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Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.
Naoaki Shibata,Yuki Hasegawa,Kenji Yamada,Hironori Kobayashi,Jamiyan Purevsuren,Yanling Yang,Vu Chi Dung,Nguyen Ngoc Khanh,Nguyen Ngoc Khanh,Ishwar C. Verma,Sunita Bijarnia-Mahay,Dong Hwan Lee,Dau-Ming Niu,Georg F. Hoffmann,Yosuke Shigematsu,Toshiyuki Fukao,Seiji Fukuda,Takeshi Taketani,Seiji Yamaguchi +18 more
TL;DR: The incidence rates of inborn metabolic diseases vary by country, and the disease spectra of IMDs detected via selective screening differ from those detected via ENBS.
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A MULTI-CENTER STUDY IN ORDER TO FURTHER DEFINE THE MOLECULAR BASIS OF β-THALASSEMIA IN THAILAND, PAKISTAN, SRI LANKA, MAURITIUS, SYRIA, AND INDIA, AND TO DEVELOP A SIMPLE MOLECULAR DIAGNOSTIC STRATEGY BY AMPLIFICATION REFRACTORY MUTATION SYSTEM-POLYMERASE CHAIN REACTION
John M. Old,Shaheen N. Khan,Ishwar C. Verma,Suthat Fucharoen,Marina Kleanthous,Panos Ioannou,Navaratnam Kotea,Chris Fisher,Sheikh Riazuddin,Renu Saxena,Pranee Winichagoon,Kyriacos Kyriacou,Faizeh Al-Quobaili,Baldip Khan +13 more
TL;DR: The spectrum of the β-thalassemia mutations of Thailand, Pakistan, India, Sri Lanka, Mauritius and Syria has been further characterized by a multi-center study of 1,235 transfusion-dependent patients, and the mutations discovered used to assess the fidelity of a simple diagnostic strategy.
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Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice
Lara De Tomasi,Lara De Tomasi,Lara De Tomasi,Pierre David,Camille Humbert,Camille Humbert,Flora Silbermann,Flora Silbermann,Christelle Arrondel,Christelle Arrondel,Frédéric Tores,Stéphane Fouquet,Audrey Desgrange,Audrey Desgrange,Olivier Niel,Christine Bole-Feysot,Patrick Nitschke,Joelle Roume,Marie-Pierre Cordier,Christine Pietrement,Bertrand Isidor,Philippe Khau Van Kien,Marie Gonzales,Marie-Hélène Saint-Frison,Jelena Martinovic,Robert Novo,Juliette Piard,Christelle Cabrol,Ishwar C. Verma,Ratna Dua Puri,Hubert Journel,Jacqueline Aziza,Laurent Gavard,Marie-Hélène Said-Menthon,Laurence Heidet,Sophie Saunier,Sophie Saunier,Cécile Jeanpierre,Cécile Jeanpierre +38 more
TL;DR: W Whole-exome or targeted exome sequencing of 183 unrelated familial and/or severe CAKUT-affected case subjects led to the identification of 16 heterozygous variants in GREB1L (growth regulation by estrogen in breast cancer 1-like), a gene reported as a target of retinoic acid signaling, which demonstrates that Greb1l plays a major role in early metanephros and genital development in mice and humans.