Search Results - "Datar C"

Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports.

Authors: Shethq, F. Akinde, O. R. Datar, C. et al.

Source: Case Reports in Genetics. 2012, p1-5. 5p.

Organic Acidemias in India: Clinical and Molecular Spectrum.

Authors: Bijarnia-Mahay S Gupta D Puri RD et al.

Source: Indian journal of pediatrics [Indian J Pediatr] 2026 Jul 10. Date of Electronic Publication: 2026 Jul 10.

Publication Type: Journal Article

Journal Info: Publisher: Dr. K. C. Chaudhuri Foundation, co-published by Springer India Country of Publication: India NLM ID: 0417442 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 0973-7693 (Electronic) Linking ISSN: 00195456 NLM ISO Abbreviation: Indian J Pediatr Subsets: MEDLINE

Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.

Authors: Sheth J Dhondekar T Ajagekar M et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Sep 02; Vol. 20 (1), pp. 471. Date of Electronic Publication: 2025 Sep 02.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.

Authors: Sheth J Nair A Bhavsar R et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2026 Jan 27; Vol. 21 (1), pp. 65. Date of Electronic Publication: 2026 Jan 27.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.

Authors: Sheth J Nair A Sheth F et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Aug 13; Vol. 19 (1), pp. 295. Date of Electronic Publication: 2024 Aug 13.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.

Authors: Sheth J Nair A Bhavsar R et al.

Source: JIMD reports [JIMD Rep] 2024 Jan 02; Vol. 65 (2), pp. 85-101. Date of Electronic Publication: 2024 Jan 02 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE

Antenatal diagnosis and early postnatal management of a neonate with type 1 familial glucocorticoid deficiency.

Authors: Chougula PV Deshpande S Datar C et al.

Source: BMJ case reports [BMJ Case Rep] 2025 Feb 24; Vol. 18 (2). Date of Electronic Publication: 2025 Feb 24.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-790X (Electronic) Linking ISSN: 1757790X NLM ISO Abbreviation: BMJ Case Rep Subsets: MEDLINE

Familial glucocorticoid deficiency: genetic insights and treatment strategies in resource-limited settings.

Authors: Tresa A Jahagirdar R Deshpande R et al.

Source: BMJ case reports [BMJ Case Rep] 2025 Feb 16; Vol. 18 (2). Date of Electronic Publication: 2025 Feb 16.

Publication Type: Journal Article

Journal Info: Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-790X (Electronic) Linking ISSN: 1757790X NLM ISO Abbreviation: BMJ Case Rep Subsets: MEDLINE

Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review.

Authors: Sheth J Shah S Datar C et al.

Source: BMC pediatrics [BMC Pediatr] 2023 Mar 24; Vol. 23 (1), pp. 133. Date of Electronic Publication: 2023 Mar 24.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431 (Electronic) Linking ISSN: 14712431 NLM ISO Abbreviation: BMC Pediatr Subsets: MEDLINE

First reported cases with Xia-Gibbs syndrome from India harboring novel variants in AHDC1.

Authors: Danda S Datar C Kher A et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Aug; Vol. 188 (8), pp. 2501-2504. Date of Electronic Publication: 2022 May 21.

Publication Type: Case Reports; Research Support, Non-U.S. Gov't; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.

Authors: Deshpande D Gupta SK Sarma AS et al.

Source: Human mutation [Hum Mutat] 2021 Oct; Vol. 42 (10), pp. 1336-1350. Date of Electronic Publication: 2021 Aug 03.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.

Authors: Sheth J Bhavsar R Mistri M et al.

Source: BMC medical genetics [BMC Med Genet] 2019 Feb 14; Vol. 20 (1), pp. 31. Date of Electronic Publication: 2019 Feb 14.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

Authors: Depienne C Nava C Keren B et al.

Corporate Authors: Depienne C Nava C Keren B et al.

Source: Human genetics [Hum Genet] 2017 Apr; Vol. 136 (4), pp. 463-479. Date of Electronic Publication: 2017 Mar 10.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.

Authors: Sheth J Datar C Mistri M et al.

Source: BMC pediatrics [BMC Pediatr] 2016 Jul 11; Vol. 16, pp. 88. Date of Electronic Publication: 2016 Jul 11.

Publication Type: Case Reports; Journal Article; Review; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431 (Electronic) Linking ISSN: 14712431 NLM ISO Abbreviation: BMC Pediatr Subsets: MEDLINE

Lysosomal Storage Disorders in Indian Children with Neuroregression Attending a Genetic Center.

Authors: Sheth J Mistri M Bhavsar R et al.

Source: Indian pediatrics [Indian Pediatr] 2015 Dec; Vol. 52 (12), pp. 1029-33.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Indian Pediatrics Country of Publication: India NLM ID: 2985062R Publication Model: Print Cited Medium: Internet ISSN: 0974-7559 (Electronic) Linking ISSN: 00196061 NLM ISO Abbreviation: Indian Pediatr Subsets: MEDLINE

Focal congenital hyperinsulinism resulting from biallelic loss of function of KCNJ11 gene.

Authors: Garegrat R Patnaik S Suryawanshi P et al.

Source: BMJ case reports [BMJ Case Rep] 2021 Mar 24; Vol. 14 (3). Date of Electronic Publication: 2021 Mar 24.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-790X (Electronic) Linking ISSN: 1757790X NLM ISO Abbreviation: BMJ Case Rep Subsets: MEDLINE

Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.

Authors: Pasumarthi D Gupta N Sheth J et al.

Source: Journal of human genetics [J Hum Genet] 2020 Nov; Vol. 65 (11), pp. 971-984. Date of Electronic Publication: 2020 Jul 10.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE

First reported case of Charcot Marie Tooth disease type 4C in a child from India with SH3TC2 mutation but absent spinal deformities.

Authors: Kalane UD Datar C Mahadevan A

Source: Neurology India [Neurol India] 2015 May-Jun; Vol. 63 (3), pp. 395-8.

Publication Type: Journal Article

Journal Info: Publisher: Medknow Publications Country of Publication: India NLM ID: 0042005 Publication Model: Print Cited Medium: Print ISSN: 0028-3886 (Print) Linking ISSN: 00283886 NLM ISO Abbreviation: Neurol India Subsets: MEDLINE; PubMed not MEDLINE

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.

Authors: Boonsawat P Joset P Steindl K et al.

Corporate Authors: Boonsawat P Joset P Steindl K et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Sep; Vol. 21 (9), pp. 2043-2058. Date of Electronic Publication: 2019 Mar 07.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy.

Authors: Narayanan DL Matta D Gupta N et al.

Source: Journal of human genetics [J Hum Genet] 2019 Apr; Vol. 64 (4), pp. 323-331. Date of Electronic Publication: 2019 Jan 23.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE