Ranganath P - Search Results

1

Short stature and dysmorphic features in Asian Indian siblings with DAAM2-associated steroid-resistant nephrotic syndrome: Expansion of the phenotypic spectrum or a blended phenotype?

Pragna Lakshmi T, Saini N, Shah MA, Gowrishankar S, Dalal A, Ranganath P. Pragna Lakshmi T, et al. Among authors: ranganath p. Clin Genet. 2024 Oct;106(4):494-499. doi: 10.1111/cge.14565. Epub 2024 Jun 11. Clin Genet. 2024. PMID: 38860410

2

Congenital metacarpal pseudoarthrosis, cleft palate, short stature, advanced bone age, and genu valgum: a new syndrome or a variant of Devriendt syndrome?

Ranganath P, Dalal AB. Ranganath P, et al. Clin Dysmorphol. 2013 Apr;22(2):73-75. doi: 10.1097/MCD.0b013e32835f9aa2. Clin Dysmorphol. 2013. PMID: 23448907 No abstract available.

3

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

Narayanan DL, Matta D, Gupta N, Kabra M, Ranganath P, Aggarwal S, Phadke SR, Datar C, Gowrishankar K, Kamate M, Jain JMN, Dalal A. Narayanan DL, et al. Among authors: ranganath p. J Hum Genet. 2019 Apr;64(4):323-331. doi: 10.1038/s10038-019-0560-1. Epub 2019 Jan 23. J Hum Genet. 2019. PMID: 30674982

4

Phenotypic and genotypic spectrum of CTSK variants in a cohort of twenty-five Indian patients with pycnodysostosis.

Sait H, Srivastava P, Gupta N, Kabra M, Kapoor S, Ranganath P, Rungsung I, Mandal K, Saxena D, Dalal A, Roy A, Pabbati J, Phadke SR. Sait H, et al. Among authors: ranganath p. Eur J Med Genet. 2021 Jul;64(7):104235. doi: 10.1016/j.ejmg.2021.104235. Epub 2021 May 1. Eur J Med Genet. 2021. PMID: 33945887

5

Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II.

Agrawal N, Verma G, Saxena D, Kabra M, Gupta N, Mandal K, Moirangthem A, Sheth J, Puri RD, Bijarnia-Mahay S, Kapoor S, Danda S, H SV, Datar CA, Ranganath P, Shukla A, Dalal A, Srivastava P, Devi RR, Phadke SR. Agrawal N, et al. Among authors: ranganath p. Eur J Med Genet. 2022 Mar;65(3):104447. doi: 10.1016/j.ejmg.2022.104447. Epub 2022 Feb 8. Eur J Med Genet. 2022. PMID: 35144014

6

A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4.

Ranganath P, Perala S, Nair L, Pamu PK, Shankar A, Murugan S, Dalal A. Ranganath P, et al. Eur J Hum Genet. 2020 May;28(5):669-673. doi: 10.1038/s41431-020-0572-5. Epub 2020 Jan 21. Eur J Hum Genet. 2020. PMID: 31965066 Free PMC article.

7

Novel mutations in PRG4 gene in two Indian families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.

Nandagopalan RS, Phadke SR, Dalal AB, Ranganath P. Nandagopalan RS, et al. Among authors: ranganath p. Indian J Med Res. 2014 Aug;140(2):221-6. Indian J Med Res. 2014. PMID: 25297354 Free PMC article.

8

Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.

Ranganath P, Matta D, Bhavani GS, Wangnekar S, Jain JM, Verma IC, Kabra M, Puri RD, Danda S, Gupta N, Girisha KM, Sankar VH, Patil SJ, Ramadevi AR, Bhat M, Gowrishankar K, Mandal K, Aggarwal S, Tamhankar PM, Tilak P, Phadke SR, Dalal A. Ranganath P, et al. Am J Med Genet A. 2016 Oct;170(10):2719-30. doi: 10.1002/ajmg.a.37817. Epub 2016 Jun 24. Am J Med Genet A. 2016. PMID: 27338287

9

Variable Expressivity and Response to Bisphosphonate Therapy in a Family with Osteoporosis Pseudoglioma Syndrome.

Tallapaka KB, Ranganath P, Dalal A. Tallapaka KB, et al. Among authors: ranganath p. Indian Pediatr. 2017 Aug 15;54(8):681-683. doi: 10.1007/s13312-017-1134-y. Indian Pediatr. 2017. PMID: 28891484 Free article.

10

Mosaic paternal uniparental isodisomy of 15q11-q13 region causing Angelman phenotype.

Narayanan DL, Ranganath P, Balakrishnan S, Dalal A. Narayanan DL, et al. Among authors: ranganath p. Clin Dysmorphol. 2019 Oct;28(4):202-204. doi: 10.1097/MCD.0000000000000284. Clin Dysmorphol. 2019. PMID: 31274574 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

93 results

Search Page

Filters