Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Herjot Atwal"'
Publikováno v:
Case Reports in Genetics, Vol 2017 (2017)
Cardiotoxicity has been extensively reported in venlafaxine (VEN) overdoses. Asthenia is also among the common side effects described for this antidepressant. VEN is metabolized mainly by CYP2D6 and to a minor extent by CYP2C19 to the major active me
Externí odkaz:
https://doaj.org/article/ce52805f55c94187bee513d5624256d1
Autor:
Katta Lavanya, Karishma Mahtani, Jessica Abbott, Angita Jain, Pavalan Selvam, Herjot Atwal, Houssam Farres, Paldeep S. Atwal
Publikováno v:
American Journal of Medical Genetics Part A. 188:2192-2197
Autor:
Pavalan Selvam, Angita Jain, Jessica Abbott, Abhimanyu S. Ahuja, Anvir Cheema, Katelyn A. Bruno, Herjot Atwal, Irman Forghani, Thomas Caulfield, Paldeep S. Atwal
Publikováno v:
Molecular Syndromology. :1-8
In this report, we describe phenotypic features of a patient with mucopolysaccharidosis type IVA (Morquio syndrome) harboring a novel exon 1 deletion in GALNS with enzymatic confirmation consistent with Morquio syndrome. To our knowledge, this is the
Autor:
Peggy L. Determeyer, Paldeep S. Atwal, Bernard Esquivel, Jerome W. Crowder, Sara L Rogers, Herjot Atwal, Eimear O'Mahony
Publikováno v:
Pharmacogenomics. 22:693-701
Given the expansion of genetics in medicine, there is a growing need to develop approaches to engage patients in understanding how genetics affects their health. Various qualitative methods have been applied to gain a deeper understanding of patient
Autor:
Stephanie L. Hines, Houssam Farres, Pavalan Selvam, Paldeep S. Atwal, Thomas R. Caulfield, Herjot Atwal, John E. Richter
Publikováno v:
Cancer Genetics. :107-110
The titular member of the MAX network of proteins, MYC-associated factor X (MAX), serves an important regulatory function in transcription of E-box genes associated with cell proliferation, differentiation, and apoptosis. Wild type MAX dimerizes with
Publikováno v:
American Journal of Medical Genetics Part A. 185:539-543
Casein kinase 2-related disorders have been linked to pathogenic variants in CSNK2A1 and CSNK2B. CSNK2B-related disease is predominantly associated with neurodevelopmental abnormalities affecting cognition; however, the extent of the phenotype associ
Publikováno v:
J Pediatr Genet
Otospondylomegaepiphyseal dysplasia (OSMED) is an inherited autosomal dominant and recessive skeletal dysplasia caused by both heterozygous and homozygous pathogenic variants in COL11A2 encoding the α2(XI) collagen chains, a part of type XI collagen
Autor:
Pavalan, Selvam, Angita, Jain, Jessica, Abbott, Abhimanyu S, Ahuja, Anvir, Cheema, Katelyn A, Bruno, Herjot, Atwal, Irman, Forghani, Thomas, Caulfield, Paldeep S, Atwal
Publikováno v:
Mol Syndromol
In this report, we describe phenotypic features of a patient with mucopolysaccharidosis type IVA (Morquio syndrome) harboring a novel exon 1 deletion in GALNS with enzymatic confirmation consistent with Morquio syndrome. To our knowledge, this is the
Publikováno v:
J Pediatr Genet
Norrie disease is an X-linked genetic disorder caused by pathogenic mutations in the NDP. Here, we describe the clinical phenotype and genotype in a 19-week-old male infant with bilateral retinal detachment. Whole exome sequencing using available com
Publikováno v:
J Pediatr Genet
Buschke–Ollendorf Syndrome (BOS) is a benign autosomal dominant disorder caused by pathogenic mutations in LEMD3. Here, we describe a family diagnosed to have varied phenotypes associated with BOS. Single gene testing of LEMD3 detected a heterozygo