Girisha KM - Search Results

1

Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.

Dupont MA, Humbert C, Huber C, Siour Q, Guerrera IC, Jung V, Christensen A, Pouliet A, Garfa-Traoré M, Nitschké P, Injeyan M, Millar K, Chitayat D, Shannon P, Girisha KM, Shukla A, Mechler C, Lorentzen E, Benmerah A, Cormier-Daire V, Jeanpierre C, Saunier S, Delous M. Dupont MA, et al. Among authors: girisha km. Hum Mol Genet. 2019 Aug 15;28(16):2720-2737. doi: 10.1093/hmg/ddz091. Hum Mol Genet. 2019. PMID: 31042281

2

Novel mutation and atlantoaxial dislocation in two siblings from India with Dyggve-Melchior-Clausen syndrome.

Girisha KM, Cormier-Daire V, Heuertz S, Phadke RV, Phadke SR. Girisha KM, et al. Eur J Med Genet. 2008 May-Jun;51(3):251-6. doi: 10.1016/j.ejmg.2007.12.004. Epub 2007 Dec 24. Eur J Med Genet. 2008. PMID: 18243083

3

Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type.

Girisha KM, Shrikiran A, Bidchol AM, Sakamoto O, Gopinath PM, Satyamoorthy K. Girisha KM, et al. Indian J Hum Genet. 2012 Sep;18(3):346-8. doi: 10.4103/0971-6866.108025. Indian J Hum Genet. 2012. PMID: 23716945 Free PMC article.

4

Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.

Stephen J, Shukla A, Dalal A, Girisha KM, Shah H, Gupta N, Kabra M, Dabadghao P, Hasegawa K, Tanaka H, Phadke SR. Stephen J, et al. Among authors: girisha km. Am J Med Genet A. 2014 Jun;164A(6):1482-9. doi: 10.1002/ajmg.a.36481. Epub 2014 Mar 25. Am J Med Genet A. 2014. PMID: 24668929

5

Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.

Stephen J, Girisha KM, Dalal A, Shukla A, Shah H, Srivastava P, Kornak U, Phadke SR. Stephen J, et al. Among authors: girisha km. Eur J Med Genet. 2015 Jan;58(1):21-7. doi: 10.1016/j.ejmg.2014.10.001. Epub 2014 Oct 24. Eur J Med Genet. 2015. PMID: 25450603

6

Anomalies associated with single umbilical artery at perinatal autopsy.

Nayak SS, Shukla A, Girisha KM. Nayak SS, et al. Among authors: girisha km. Indian Pediatr. 2015 Jan;52(1):73-4. doi: 10.1007/s13312-015-0574-5. Indian Pediatr. 2015. PMID: 25638195 Free article.

7

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: girisha km. Prenat Diagn. 2015 Jul;35(7):685-91. doi: 10.1002/pd.4592. Epub 2015 Apr 5. Prenat Diagn. 2015. PMID: 25763538

8

Co-occurrence of a de novo Williams and 22q11.2 microdeletion syndromes.

Shukla A, Mandal K, Patil SJ, Kishore Y, Phadke SR, Girisha KM. Shukla A, et al. Among authors: girisha km. Am J Med Genet A. 2015 Aug;167A(8):1927-31. doi: 10.1002/ajmg.a.37116. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25898978

9

What does fetal autopsy unmask in oligohydramnios?

Nayak SS, Shukla A, Kodandapani S, Adiga PK, Girisha KM. Nayak SS, et al. Among authors: girisha km. J Matern Fetal Neonatal Med. 2016;29(14):2347-51. doi: 10.3109/14767058.2015.1085021. Epub 2015 Sep 18. J Matern Fetal Neonatal Med. 2016. PMID: 26381033 Free article.

10

Spectrum of urorectal septum malformation sequence.

Shah K, Nayak SS, Shukla A, Girisha KM. Shah K, et al. Among authors: girisha km. Congenit Anom (Kyoto). 2016 May;56(3):119-26. doi: 10.1111/cga.12149. Congenit Anom (Kyoto). 2016. PMID: 26663027

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