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Items: 1 to 20 of 103

1.

Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12.

Ehtesham N, Cantor RM, King LM, Reinker K, Powell BR, Shanske A, Unger S, Rimoin DL, Cohn DH.

Am J Hum Genet. 2002 Oct;71(4):947-51. Epub 2002 Aug 2.

2.

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.

Am J Hum Genet. 2003 Feb;72(2):419-28. Epub 2002 Dec 16.

3.

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.

Am J Med Genet A. 2006 Mar 1;140(5):421-6.

PMID:
16470731
4.

Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia).

Bayrak IK, Nural MS, Diren HB.

Diagn Interv Radiol. 2005 Sep;11(3):163-5.

5.

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.

Am J Med Genet A. 2005 Sep 15;138(1):75-8. No abstract available.

PMID:
16097008
6.

Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder.

Kinning E, Tufarelli C, Winship WS, Aldred MA, Trembath RC.

J Med Genet. 2005 Dec;42(12):e70.

7.

[Dyggve-Melchior-Clausen syndrome: presentation of a case with a mutation of possible Spanish origin].

Martínez-Frías ML, Cormier-Daire V, Cohn DH, Mendioroz J, Bermejo E, Mansilla E.

Med Clin (Barc). 2007 Feb 3;128(4):137-40. Review. Spanish.

PMID:
17288936
8.

Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1.

Thauvin-Robinet C, El Ghouzzi V, Chemaitilly W, Dagoneau N, Boute O, Viot G, Mégarbané A, Sefiani A, Munnich A, Le Merrer M, Cormier-Daire V.

J Med Genet. 2002 Oct;39(10):714-7.

9.

Dyggve-Melchior-Clausen syndrome: report of seven patients with the Smith-McCort variant and review of the literature.

Burns C, Powell BR, Hsia YE, Reinker K.

J Pediatr Orthop. 2003 Jan-Feb;23(1):88-93. Review.

PMID:
12499951
10.

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.

Am J Med Genet A. 2017 Mar;173(3):588-595. doi: 10.1002/ajmg.a.38064. Epub 2017 Jan 27.

PMID:
28127940
11.

Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation.

Khalifa O, Imtiaz F, Al-Sakati N, Al-Manea K, Verloes A, Al-Owain M.

Eur J Pediatr. 2011 Jan;170(1):121-6. doi: 10.1007/s00431-010-1298-0. Epub 2010 Sep 24.

PMID:
20865280
12.

A novel RAB33B mutation in Smith-McCort dysplasia.

Dupuis N, Lebon S, Kumar M, Drunat S, Graul-Neumann LM, Gressens P, El Ghouzzi V.

Hum Mutat. 2013 Feb;34(2):283-6. doi: 10.1002/humu.22235. Epub 2012 Nov 8.

PMID:
23042644
13.

Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia): morphological findings in the growth plate of the iliac crest.

Nakamura K, Kurokawa T, Nagano A, Nakamura S, Taniguchi K, Hamazaki M.

Am J Med Genet. 1997 Oct 3;72(1):11-7.

PMID:
9295067
14.

Dyggve-Melchior-Clausen syndrome: clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families.

Aglan MS, Temtamy SA, Fateen E, Ashour AM, Eldeeb K, Hosny GA.

J Child Orthop. 2009 Dec;3(6):451-8. doi: 10.1007/s11832-009-0211-8. Epub 2009 Oct 9.

15.

A recurrent mutation in Moroccan patients with Dyggve-Melchior-Clausen syndrome: Report of a new case and review.

Elalaoui SC, Mariam T, Ilham R, Yassamine D, Abdelaziz S.

Indian J Hum Genet. 2011 May;17(2):97-9. doi: 10.4103/0971-6866.86197.

16.

An extremely rare association of dyggve-melchior-clausen syndrome with mania: coincidence or comorbidity.

Kar SK, Bansal S, Kumar D.

Indian J Psychol Med. 2015 Apr-Jun;37(2):226-9. doi: 10.4103/0253-7176.155644.

17.

A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve-Melchior-Clausen syndrome.

Seven M, Koparir E, Gezdirici A, Aydin H, Skladny H, Fenercioğlu E, Güven G, Karataş ÖF, Koparir A, Özen M, Ulucan H.

Clin Dysmorphol. 2014 Jan;23(1):1-7. doi: 10.1097/MCD.0000000000000020.

PMID:
24300288
18.

Acromesomelic dysplasia Maroteaux type maps to human chromosome 9.

Kant SG, Polinkovsky A, Mundlos S, Zabel B, Thomeer RT, Zonderland HM, Shih L, van Haeringen A, Warman ML.

Am J Hum Genet. 1998 Jul;63(1):155-62.

19.

Recent advances in Dyggve-Melchior-Clausen syndrome.

Paupe V, Gilbert T, Le Merrer M, Munnich A, Cormier-Daire V, El Ghouzzi V.

Mol Genet Metab. 2004 Sep-Oct;83(1-2):51-9. Review.

PMID:
15464420
20.

Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.

Hellemans J, Coucke PJ, Giedion A, De Paepe A, Kramer P, Beemer F, Mortier GR.

Am J Hum Genet. 2003 Apr;72(4):1040-6. Epub 2003 Mar 11.

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