Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

2,159 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
An Indian child with Coats plus syndrome due to mutations in STN1.
Passi GR, Shamim U, Rathore S, Joshi A, Mathur A, Parveen S, Sharma P, Crow YJ, Faruq M. Passi GR, et al. Among authors: mathur a. Am J Med Genet A. 2020 Sep;182(9):2139-2144. doi: 10.1002/ajmg.a.61737. Epub 2020 Jul 6. Am J Med Genet A. 2020. PMID: 32627942
Next Generation Sequencing and Cytogenetic Based Evaluation of Indian Pierre Robin Sequence Families Reveals CNV Regions of Modest Effect and a Novel LOXL3 Mutation.
Sood A, Shamim U, Kharbanda OP, Kabra M, Gupta N, Mathur A, Joshi A, Parveen S, Zahra S, Sharma P, Seth M, Khan A, Faruq M, Mishra D. Sood A, et al. Among authors: mathur a. Cleft Palate Craniofac J. 2022 Nov;59(11):1329-1339. doi: 10.1177/10556656211052781. Epub 2021 Nov 17. Cleft Palate Craniofac J. 2022. PMID: 34787502
Genetics of Ataxias in Indian Population: A Collative Insight from a Common Genetic Screening Tool.
Sharma P, Sonakar AK, Tyagi N, Suroliya V, Kumar M, Kutum R, Asokchandran V, Ambawat S, Shamim U, Anand A, Ahmad I, Shakya S, Uppili B, Mathur A, Parveen S, Jain S, Singh J, Seth M, Zahra S, Joshi A, Goel D, Sahni S, Kamai A, Wadhwa S, Murali A, Saifi S, Chowdhury D, Pandey S, Anand KS, Narasimhan RL, Laskar S, Kushwaha S, Kumar M, Shaji CV, Srivastava MVP, Srivastava AK, Faruq M; GOMED‐Ataxia study group. Sharma P, et al. Among authors: mathur a. Adv Genet (Hoboken). 2022 Mar 10;3(2):2100078. doi: 10.1002/ggn2.202100078. eCollection 2022 Jun. Adv Genet (Hoboken). 2022. PMID: 36618024 Free PMC article.
Genomic analysis of patients in a South Indian Community with autosomal dominant cortical tremor, myoclonus and epilepsy suggests a founder repeat expansion mutation in the SAMD12 gene.
Mahadevan R, Bhoyar RC, Viswanathan N, Rajagopal RE, Essaki B, Suroliya V, Chelladurai R, Sankaralingam S, Shanmugam G, Vayanakkan S, Shamim U, Mathur A, Jain A, Imran M, Faruq M, Scaria V, Sivasubbu S, Kalyanaraman S. Mahadevan R, et al. Among authors: mathur a. Brain Commun. 2020 Dec 19;3(1):fcaa214. doi: 10.1093/braincomms/fcaa214. eCollection 2021. Brain Commun. 2020. PMID: 33501421 Free PMC article.
C9orf72 hexanucleotide repeat expansion in Indian patients with ALS: a common founder and its geographical predilection.
Shamim U, Ambawat S, Singh J, Thomas A, Pradeep-Chandra-Reddy C, Suroliya V, Uppilli B, Parveen S, Sharma P, Chanchal S, Nashi S, Preethish-Kumar V, Vengalil S, Polavarapu K, Keerthipriya M, Mahajan NP, Reddy N, Thomas PT, Sadasivan A, Warrier M, Seth M, Zahra S, Mathur A, Vibha D, Srivastava AK, Nalini A, Faruq M. Shamim U, et al. Among authors: mathur a. Neurobiol Aging. 2020 Apr;88:156.e1-156.e9. doi: 10.1016/j.neurobiolaging.2019.12.024. Epub 2020 Jan 3. Neurobiol Aging. 2020. PMID: 32035847
A founder mutation MLC1 c.736delA associated with megalencephalic leukoencephalopathy with subcortical cysts-1 in north Indian kindred.
Vellarikkal SK, Jayarajan R, Verma A, Ravi R, Senthilvel V, Kumar A, Saini L, Gulati S, Lal M, Mathur A, Chhetri MK, Faruq M, Scaria V, Sivasubbu S. Vellarikkal SK, et al. Among authors: mathur a. Clin Genet. 2018 Aug;94(2):271-273. doi: 10.1111/cge.13251. Epub 2018 Apr 18. Clin Genet. 2018. PMID: 29667716 No abstract available.
2,159 results