Kadavigere R - Search Results

1

Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.

Kaur P, do Rosario MC, Hebbar M, Sharma S, Kausthubham N, Nair K, A S, Bhat Y R, Lewis LES, Nampoothiri S, Patil SJ, Suresh N, Bijarnia Mahay S, Dua Puri R, Pai S, Kaur A, Kc R, Kamath N, Bajaj S, Kumble A, Shetty R, Shenoy R, Kamate M, Shah H, Muranjan MN, Bl Y, Avabratha KS, Subramaniam G, Kadavigere R, Bielas S, Girisha KM, Shukla A. Kaur P, et al. Among authors: kadavigere r. Clin Genet. 2021 Nov;100(5):542-550. doi: 10.1111/cge.14037. Epub 2021 Jul 30. Clin Genet. 2021. PMID: 34302356 Free PMC article.

2

Fetal akinesia deformation sequence: expanding the phenotypic spectrum.

Nayak SS, Kadavigere R, Mathew M, Kumar P, Hall JG, Girisha KM. Nayak SS, et al. Among authors: kadavigere r. Am J Med Genet A. 2014 Oct;164A(10):2643-8. doi: 10.1002/ajmg.a.36673. Epub 2014 Jul 8. Am J Med Genet A. 2014. PMID: 25045026

3

Clinical utility of fetal autopsy and its impact on genetic counseling.

Nayak SS, Shukla A, Lewis L, Kadavigere R, Mathew M, Adiga PK, Vasudeva A, Kumar P, Shetty J, Shah H, Girisha KM. Nayak SS, et al. Among authors: kadavigere r. Prenat Diagn. 2015 Jul;35(7):685-91. doi: 10.1002/pd.4592. Epub 2015 Apr 5. Prenat Diagn. 2015. PMID: 25763538

4

Middle Interhemispheric Variant of Holoprosencephaly - Presenting as Non-Visualized Cavum Septum Pellucidum and An Interhemispheric Cyst in A 19-Weeks Fetus.

Vasudeva A, Nayak SS, Kadavigere R, Girisha KM, Shetty J. Vasudeva A, et al. Among authors: kadavigere r. J Clin Diagn Res. 2015 Sep;9(9):QD11-3. doi: 10.7860/JCDR/2015/14076.6525. Epub 2015 Sep 1. J Clin Diagn Res. 2015. PMID: 26500966 Free PMC article.

5

A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.

Girisha KM, Shukla A, Trujillano D, Bhavani GS, Hebbar M, Kadavigere R, Rolfs A. Girisha KM, et al. Among authors: kadavigere r. Clin Genet. 2016 Dec;90(6):536-539. doi: 10.1111/cge.12762. Epub 2016 Mar 15. Clin Genet. 2016. PMID: 26880018

6

Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome.

Shukla A, Hebbar M, Harms FL, Kadavigere R, Girisha KM, Kutsche K. Shukla A, et al. Among authors: kadavigere r. Am J Med Genet A. 2016 Nov;170(11):2998-3003. doi: 10.1002/ajmg.a.37759. Epub 2016 May 18. Am J Med Genet A. 2016. PMID: 27191798

7

Complexities in Genotype-Phenotype Correlation and Genetic Counseling in Collagen VI - Related Myopathy.

Hebbar M, Chandra T, Shukla A, Kadavigere R, Girisha KM. Hebbar M, et al. Among authors: kadavigere r. Indian J Pediatr. 2017 Apr;84(4):330-331. doi: 10.1007/s12098-016-2279-8. Epub 2016 Dec 21. Indian J Pediatr. 2017. PMID: 28000110 No abstract available.

8

Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

Shukla A, Hebbar M, Srivastava A, Kadavigere R, Upadhyai P, Kanthi A, Brandau O, Bielas S, Girisha KM. Shukla A, et al. Among authors: kadavigere r. J Hum Genet. 2017 Jul;62(7):723-727. doi: 10.1038/jhg.2017.35. Epub 2017 Mar 30. J Hum Genet. 2017. PMID: 28356563 Free PMC article.

9

Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature.

Galada C, Hebbar M, Lewis L, Soans S, Kadavigere R, Srivastava A, Bielas S, Girisha KM, Shukla A. Galada C, et al. Among authors: kadavigere r. Congenit Anom (Kyoto). 2018 Sep;58(5):181-182. doi: 10.1111/cga.12275. Epub 2018 Feb 20. Congenit Anom (Kyoto). 2018. PMID: 29405484 Free PMC article. Review. No abstract available.

10

Novel variant p.(Ala102Thr) in SDHB causes mitochondrial complex II deficiency: Case report and review of the literature.

Kaur P, Sharma S, Kadavigere R, Girisha KM, Shukla A. Kaur P, et al. Among authors: kadavigere r. Ann Hum Genet. 2020 Jul;84(4):345-351. doi: 10.1111/ahg.12377. Epub 2020 Mar 2. Ann Hum Genet. 2020. PMID: 32124427 Review.

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