Zobrazeno 1 - 10
of 36
pro vyhledávání: '"G. Shashidhar Pai"'
Autor:
Can Ficicioglu, Didem Demirbas, Britt Derks, G. Shashidhar Pai, David J. Timson, Maria Estela Rubio‐Gozalbo, Gerard T. Berry
Publikováno v:
JIMD Reports, Vol 59, Iss 1, Pp 104-109 (2021)
Abstract Galactokinase deficiency is an inborn error of carbohydrate metabolism due to a block in the formation of galactose‐1‐phosphate from galactose. Although the association of galactokinase deficiency with formation of cataracts is well esta
Externí odkaz:
https://doaj.org/article/b8646ce29b08414b95415f29487e97a8
Autor:
Britt Derks, Didem Demirbas, David J. Timson, M. E. Rubio-Gozalbo, Gerard T. Berry, Can Ficicioglu, G Shashidhar Pai
Publikováno v:
JIMD Reports, Vol 59, Iss 1, Pp 104-109 (2021)
JIMD reports, 59(1), 104-109. Springer
JIMD reports, 59(1), 104-109. Springer
Galactokinase deficiency is an inborn error of carbohydrate metabolism due to a block in the formation of galactose‐1‐phosphate from galactose. Although the association of galactokinase deficiency with formation of cataracts is well established,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e7ac9540d12485a58d97a7964b25e3e
https://doaj.org/article/b8646ce29b08414b95415f29487e97a8
https://doaj.org/article/b8646ce29b08414b95415f29487e97a8
Autor:
Amy Crunk, Delphine Héron, Gretchen Parsons, Caroline Nava, Paul R. Mark, Richard E. Person, John M. Graham, Hannah Warren, Parul Jayakar, Lise Larcher, Marwan Shinawi, Sandra Whalen, Audrey Putoux, Kathryn G. Miller, Jane Juusola, Boris Keren, Rebecca Willaert, Alexandra Afenjar, Isabelle Sabatier, Susan A. Berry, Benjamin Cogné, Susan M. Hiatt, Jackie Boyle, Natasha Shur, Erin Torti, Rachel Rabin, Gaetan Lesca, Thomas Courtin, Mathilde Nizon, Luis F. Escobar, G. Shashidhar Pai, Sabra Ledare Finley, Marisa V. Andrews, Margaret G. Au, Kevin M. Bowling, Zehua Zhu, Sara S. Cathey, Steven A. Skinner, Perrine Charles, Ganka Douglas, Kristin G. Monaghan, Ilse J. Anderson, Stéphanie Valence, Katelyn Payne, Kathleen A. Hibbs, John Pappas, Stacy Hewson, Benjamin D. Solomon, Celia Atkinson, Dorothy K. Grange, Elizabeth E. Palmer, Julien Buratti, Louisa Kalsner
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose: To define the clinical characteristics of patients with variants in TCF20, we describe 27 patients, 26 of whom were identified via exome sequencing. We compare detailed clinical data with 17 previously reported patients. Methods: Patients we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aecdcfa4f1d745f18ff01f210d330278
https://pubmed.ncbi.nlm.nih.gov/30739909
https://pubmed.ncbi.nlm.nih.gov/30739909
Autor:
Wafaa Eyaid, Greg Enns, Adria Bodell, G. Shashidhar Pai, Leela Job, William B. Dobyns, Christine K. Lee, Christopher A. Walsh, Bernard S. Chang, Lieven Lagae, Sophie Currier, Lihadh Al-Gazali
Publikováno v:
American Journal of Medical Genetics Part A. :53-57
Department of Human Genetics, Neurology and Pediatrics, University of Chicago, Chicago, IllinoisWalker–Warburg syndrome (WWS) is an autoso-mal recessive disorder of infancy characterizedby hydrocephalus, agyria, retinal dysplasia, con-genital muscu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c0bc63b060da969a8cf5b03a9f76c5b
https://doi.org/10.1002/ajmg.a.30487
https://doi.org/10.1002/ajmg.a.30487
Publikováno v:
Pediatric and Developmental Pathology. 8:115-123
Partial trisomy of 1q is rare. Only 32 cases of isolated partial trisomy 1q have been previously reported. From these cases, a characteristic phenotype is beginning to emerge. We present a case of mosaic duplication of 1q [46,XX,dup (1)(q11q44)/46,XX
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27dbe164f8a0c5edd3241a0ae88603a6
https://doi.org/10.1007/s10024-003-9098-4
https://doi.org/10.1007/s10024-003-9098-4
Publikováno v:
American Journal of Medical Genetics. 102:237-242
Ritscher-Schinzel syndrome, also known as the 3C syndrome, is a rare, autosomal recessive syndrome characterized by craniofacial, cerebellar, and cardiac anomalies. Cardiac manifestations include ventricular septal defect, atrial septal defect, tetra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5a1415a5e73977fd5a8a7ad1c561811e
https://doi.org/10.1002/ajmg.1449
https://doi.org/10.1002/ajmg.1449
Publikováno v:
The Indian Journal of Pediatrics. 67:907-913
Skeletal dysplasia are a relatively common and distinct group of genetic disorders. Even though abnormalities of bone growth are the major clinical manifestations, the pathological process may involve in any body system. Many of these disorders have
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58568d926109b2296371f680a3a26220
https://doi.org/10.1007/bf02723957
https://doi.org/10.1007/bf02723957
Autor:
G. Shashidhar Pai, Swati B. Gadewar
Publikováno v:
The Indian Journal of Pediatrics. 67:819-823
Clinical genetics deals with the diagnosis, manage ment and prevention of genetically determined disorders. Our current understanding of the role genes play in the pathogenesis of everything from fetal malformation to neurodegenerative and malignant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d53774fa8c07b3cb191e6bde4adf5488
https://doi.org/10.1007/bf02726226
https://doi.org/10.1007/bf02726226
Autor:
Renée Betros, Jeffery R. Craver, Joel K. Curé, Mushfiquddin Khan, G. Shashidhar Pai, Ernest Barbosa, L. Lyndon Key, Inderjit Singh
Publikováno v:
Molecular Genetics and Metabolism. 69:312-322
X-linked adrenoleukodystrophy (X-ALD) is a progressive demyelinating disorder whose neurological signs and symptoms can manifest in childhood as cerebral ALD or in adulthood in the form of a progressive myelopathy (AMN). The consistent metabolic abno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a7b4a2bf60fb55983dba39a9429e399
https://doi.org/10.1006/mgme.2000.2977
https://doi.org/10.1006/mgme.2000.2977
Publikováno v:
American Journal of Medical Genetics. 74:521-525
Williams syndrome is a genetic disorder linked to cognitive and behavioral patterns of varying consistency; this study was conducted to clarify further the strengths and weaknesses of children with Williams syndrome. Fifteen subjects with the charact
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0d73242248b3fad21315082bb3e71b8f
https://doi.org/10.1002/(sici)1096-8628(19970919)74:5<521::aid-ajmg13>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19970919)74:5<521::aid-ajmg13>3.0.co