Similar articles for PMID: 16470731

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1

Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia.

Neumann LM, El Ghouzzi V, Paupe V, Weber HP, Fastnacht E, Leenen A, Lyding S, Klusmann A, Mayatepek E, Pelz J, Cormier-Daire V. Neumann LM, et al. Am J Med Genet A. 2006 Mar 1;140(5):421-6. doi: 10.1002/ajmg.a.31090. Am J Med Genet A. 2006. PMID: 16470731

2

Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.

Salian S, Cho TJ, Phadke SR, Gowrishankar K, Bhavani GS, Shukla A, Jagadeesh S, Kim OH, Nishimura G, Girisha KM. Salian S, et al. Am J Med Genet A. 2017 Mar;173(3):588-595. doi: 10.1002/ajmg.a.38064. Epub 2017 Jan 27. Am J Med Genet A. 2017. PMID: 28127940 Review.

3

A novel RAB33B mutation in Smith-McCort dysplasia.

Dupuis N, Lebon S, Kumar M, Drunat S, Graul-Neumann LM, Gressens P, El Ghouzzi V. Dupuis N, et al. Hum Mutat. 2013 Feb;34(2):283-6. doi: 10.1002/humu.22235. Epub 2012 Nov 8. Hum Mutat. 2013. PMID: 23042644 Free article.

4

Recent advances in Dyggve-Melchior-Clausen syndrome.

Paupe V, Gilbert T, Le Merrer M, Munnich A, Cormier-Daire V, El Ghouzzi V. Paupe V, et al. Mol Genet Metab. 2004 Sep-Oct;83(1-2):51-9. doi: 10.1016/j.ymgme.2004.08.012. Mol Genet Metab. 2004. PMID: 15464420 Review.

5

Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.

Cohn DH, Ehtesham N, Krakow D, Unger S, Shanske A, Reinker K, Powell BR, Rimoin DL. Cohn DH, et al. Am J Hum Genet. 2003 Feb;72(2):419-28. doi: 10.1086/346176. Epub 2002 Dec 16. Am J Hum Genet. 2003. PMID: 12491225 Free PMC article.

6

A Novel Homozygous Nonsense Variant in the DYM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family.

Bakar A, Shams S, Bibi N, Ullah A, Ahmad W, Jelani M, Muthaffar OY, Abdulkareem AA, Abujamel TS, Haque A, Naseer MI, Khan B. Bakar A, et al. Genes (Basel). 2023 Feb 17;14(2):510. doi: 10.3390/genes14020510. Genes (Basel). 2023. PMID: 36833437 Free PMC article.

7

Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India.

Varshney K, Narayanachar SG, Girisha KM, Bhavani GS, Narayanan D, Phadke S, Nampoothiri S, Udupi GA, Raghupathy P, Nair M, Geetha TS, Bhat M. Varshney K, et al. J Med Genet. 2023 Feb;60(2):204-211. doi: 10.1136/jmedgenet-2021-108098. Epub 2022 Apr 27. J Med Genet. 2023. PMID: 35477554

8

A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients.

Gaboon NEA, Parveen A, Ahmad KA, Shuaib T, Al-Aama JY, Abdelwehab L, Arif A, Wasif N. Gaboon NEA, et al. Front Pediatr. 2020 Jul 16;8:383. doi: 10.3389/fped.2020.00383. eCollection 2020. Front Pediatr. 2020. PMID: 32766185 Free PMC article.

9

A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features.

Abdullah, Shah PW, Nawaz S, Hussain S, Ullah A, Basit S, Ahmad W. Abdullah, et al. Mol Biol Rep. 2020 Sep;47(9):7083-7088. doi: 10.1007/s11033-020-05774-z. Epub 2020 Sep 4. Mol Biol Rep. 2020. PMID: 32886330

10

Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain.

Pogue R, Ehtesham N, Repetto GM, Carrero-Valenzuela R, de Casella CB, de Pons SP, Martínez-Frías ML, Heuertz S, Cormier-Daire V, Cohn DH. Pogue R, et al. Am J Med Genet A. 2005 Sep 15;138(1):75-8. doi: 10.1002/ajmg.a.30912. Am J Med Genet A. 2005. PMID: 16097008 No abstract available.

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