Girisha KM - Search Results

1

Multi-gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias.

Kakar N, Rehman FU, Kaur R, Bhavani GS, Goyal M, Shah H, Kaur K, Sodhi KS, Kubisch C, Borck G, Panigrahi I, Girisha KM, Kornak U, Spielmann M. Kakar N, et al. Among authors: girisha km. Clin Genet. 2024 Jul;106(1):47-55. doi: 10.1111/cge.14509. Epub 2024 Feb 20. Clin Genet. 2024. PMID: 38378010

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

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

7

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.

8

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.

Dimopoulou A, Fischer B, Gardeitchik T, Schröter P, Kayserili H, Schlack C, Li Y, Brum JM, Barisic I, Castori M, Spaich C, Fletcher E, Mahayri Z, Bhat M, Girisha KM, Lachlan K, Johnson D, Phadke S, Gupta N, Simandlova M, Kabra M, David A, Nijtmans L, Chitayat D, Tuysuz B, Brancati F, Mundlos S, Van Maldergem L, Morava E, Wollnik B, Kornak U. Dimopoulou A, et al. Among authors: girisha km. Mol Genet Metab. 2013 Nov;110(3):352-61. doi: 10.1016/j.ymgme.2013.08.009. Epub 2013 Aug 24. Mol Genet Metab. 2013. PMID: 24035636

9

Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.

Lohan S, Spielmann M, Doelken SC, Flöttmann R, Muhammad F, Baig SM, Wajid M, Hülsemann W, Habenicht R, Kjaer KW, Patil SJ, Girisha KM, Abarca-Barriga HH, Mundlos S, Klopocki E. Lohan S, et al. Among authors: girisha km. Clin Genet. 2014 Oct;86(4):318-25. doi: 10.1111/cge.12352. Epub 2014 Feb 17. Clin Genet. 2014. PMID: 24456159

10

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

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