Girisha KM - Search Results

1

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: girisha km. 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

2

Massive cranial osteolysis, skin changes, growth retardation and developmental delay: Gorham syndrome with systemic manifestations?

Girisha KM, Ganesh HK, Rao L, Srilatha PS. Girisha KM, et al. Am J Med Genet A. 2010 Mar;152A(3):759-63. doi: 10.1002/ajmg.a.33309. Am J Med Genet A. 2010. PMID: 20186788

3

Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation.

Girisha KM, Lewis LE, Phadke SR, Kutsche K. Girisha KM, et al. Am J Med Genet A. 2010 Nov;152A(11):2861-4. doi: 10.1002/ajmg.a.33687. Am J Med Genet A. 2010. PMID: 20979192

4

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.

5

Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia.

Dalal A, Bhavani G SL, Togarrati PP, Bierhals T, Nandineni MR, Danda S, Danda D, Shah H, Vijayan S, Gowrishankar K, Phadke SR, Bidchol AM, Rao AP, Nampoothiri S, Kutsche K, Girisha KM. Dalal A, et al. Among authors: girisha km. Am J Med Genet A. 2012 Nov;158A(11):2820-8. doi: 10.1002/ajmg.a.35620. Epub 2012 Sep 17. Am J Med Genet A. 2012. PMID: 22987568

6

Expanding the phenotype associated with 17q12 duplication: case report and review of the literature.

Bierhals T, Maddukuri SB, Kutsche K, Girisha KM. Bierhals T, et al. Among authors: girisha km. Am J Med Genet A. 2013 Feb;161A(2):352-9. doi: 10.1002/ajmg.a.35730. Epub 2013 Jan 10. Am J Med Genet A. 2013. PMID: 23307502 Review.

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

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: girisha km. 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

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