Shah H - Search Results

1

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

Klopocki E, Lohan S, Doelken SC, Stricker S, Ockeloen CW, Soares Thiele de Aguiar R, Lezirovitz K, Mingroni Netto RC, Jamsheer A, Shah H, Kurth I, Habenicht R, Warman M, Devriendt K, Kordass U, Hempel M, Rajab A, Mäkitie O, Naveed M, Radhakrishna U, Antonarakis SE, Horn D, Mundlos S. Klopocki E, et al. Among authors: shah h. J Med Genet. 2012 Feb;49(2):119-25. doi: 10.1136/jmedgenet-2011-100409. Epub 2011 Dec 6. J Med Genet. 2012. PMID: 22147889

2

Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly.

Klopocki E, Kähler C, Foulds N, Shah H, Joseph B, Vogel H, Lüttgen S, Bald R, Besoke R, Held K, Mundlos S, Kurth I. Klopocki E, et al. Among authors: shah h. Eur J Hum Genet. 2012 Jun;20(6):705-8. doi: 10.1038/ejhg.2011.264. Epub 2012 Jan 18. Eur J Hum Genet. 2012. PMID: 22258522 Free PMC article.

3

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. Among authors: shah h, shah kh. 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

4

Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.

Girisha KM, Bidchol AM, Graul-Neumann L, Gupta A, Hehr U, Lessel D, Nader S, Shah H, Wickert J, Kutsche K. Girisha KM, et al. Among authors: shah h. BMC Med Genet. 2016 Apr 6;17:27. doi: 10.1186/s12881-016-0290-6. BMC Med Genet. 2016. PMID: 27048506 Free PMC article.

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: shah h. 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

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: shah h. 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

7

Tibial hypoplasia with a bifid tibia: an unclassified tibial hemimelia.

Shah K, Shah H. Shah K, et al. Among authors: shah h. BMJ Case Rep. 2016 Aug 16;2016:bcr2016216622. doi: 10.1136/bcr-2016-216622. BMJ Case Rep. 2016. PMID: 27530878 Free PMC article.

8

Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1.

Kotabagi S, Shah H, Shukla A, Girisha KM. Kotabagi S, et al. Among authors: shah h. Clin Genet. 2017 Sep;92(3):323-326. doi: 10.1111/cge.13006. Epub 2017 Apr 19. Clin Genet. 2017. PMID: 28276056

9

Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency.

Verheyen S, Blatterer J, Speicher MR, Bhavani GS, Boons GJ, Ilse MB, Andrae D, Sproß J, Vaz FM, Kircher SG, Posch-Pertl L, Baumgartner D, Lübke T, Shah H, Al Kaissi A, Girisha KM, Plecko B. Verheyen S, et al. Among authors: shah h. J Med Genet. 2022 Oct;59(10):957-964. doi: 10.1136/jmedgenet-2021-108061. Epub 2021 Dec 16. J Med Genet. 2022. PMID: 34916232 Free PMC article.

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. Among authors: shah h. 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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