Girisha KM - Search Results

1

Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis.

Daly SB, Shah H, O'Sullivan J, Anderson B, Bhaskar S, Williams S, Al-Sheqaih N, Mueed Bidchol A, Banka S, Newman WG, Girisha KM. Daly SB, et al. Among authors: girisha km. Mol Syndromol. 2014 Aug;5(5):218-28. doi: 10.1159/000365057. Epub 2014 Jul 8. Mol Syndromol. 2014. PMID: 25337069 Free PMC article.

2

Second report of slipped capital femoral epiphysis in Rubinstein-Taybi syndrome.

Shah H, Singh G, Vijayan S, Girisha KM. Shah H, et al. Among authors: girisha km. Clin Dysmorphol. 2011 Jan;20(1):55-57. doi: 10.1097/MCD.0b013e32833f000b. Clin Dysmorphol. 2011. PMID: 20808218 No abstract available.

3

Hypoplasia/aplasia of pelvis, femora, fibulae, ulna, digits and nails: Fuhrmann syndrome without WNT7A mutations.

Girisha KM, Vasudevan TG, Saadi AV, Shah H, Gopinath PM, Satyamoorthy K. Girisha KM, et al. Clin Dysmorphol. 2011 Oct;20(4):205-209. doi: 10.1097/MCD.0b013e328348d956. Clin Dysmorphol. 2011. PMID: 21716096 No abstract available.

4

Further characterization of acro-renal-uterine-mandibular syndrome: report of a case and review of earlier reports.

Girisha KM, Pratap D, Shah HH. Girisha KM, et al. Clin Dysmorphol. 2012 Apr;21(2):83-86. doi: 10.1097/MCD.0b013e328350ae74. Clin Dysmorphol. 2012. PMID: 22391619 Review. No abstract available.

5

Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: a novel phenotype.

Shah H, Bens S, Caliebe A, Graham JM Jr, Girisha KM. Shah H, et al. Among authors: girisha km. Am J Med Genet A. 2012 Nov;158A(11):2941-5. doi: 10.1002/ajmg.a.35618. Epub 2012 Sep 17. Am J Med Genet A. 2012. PMID: 22987502 Free PMC article.

6

Loss of a condyle of the femur or tibia following septic arthritis in infancy: problems of management and testing of a hypothesis of pathogenesis.

Tercier S, Siddesh ND, Shah H, Girisha KM, Joseph B. Tercier S, et al. Among authors: girisha km. J Child Orthop. 2012 Aug;6(4):319-25. doi: 10.1007/s11832-012-0408-0. Epub 2012 Jul 19. J Child Orthop. 2012. PMID: 23904899 Free PMC article.

7

A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis.

Girisha KM, Abdollahpour H, Shah H, Bhavani GS, Graham JM Jr, Boggula VR, Phadke SR, Kutsche K. Girisha KM, et al. Am J Med Genet A. 2014 Apr;164A(4):1035-40. doi: 10.1002/ajmg.a.36381. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24458843

8

A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia.

Girisha KM, Bidchol AM, Kamath PS, Shah KH, Mortier GR, Mundlos S, Shah H. Girisha KM, et al. Am J Med Genet A. 2014 Apr;164A(4):898-906. doi: 10.1002/ajmg.a.36367. Epub 2014 Jan 29. Am J Med Genet A. 2014. PMID: 24478176

9

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

10

GALNS mutations in Indian patients with mucopolysaccharidosis IVA.

Bidchol AM, Dalal A, Shah H, S S, Nampoothiri S, Kabra M, Gupta N, Danda S, Gowrishankar K, Phadke SR, Kapoor S, Kamate M, Verma IC, Puri RD, Sankar VH, Devi AR, Patil SJ, Ranganath P, Jain SJ, Agarwal M, Singh A, Mishra P, Tamhankar PM, Gopinath PM, Nagarajaram HA, Satyamoorthy K, Girisha KM. Bidchol AM, et al. Among authors: girisha km. Am J Med Genet A. 2014 Nov;164A(11):2793-801. doi: 10.1002/ajmg.a.36735. Epub 2014 Sep 22. Am J Med Genet A. 2014. PMID: 25252036

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