Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 163

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.

PMID:
12161821
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

PMID:
12491225
[PubMed - indexed for MEDLINE]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
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.

PMID:
16206059
[PubMed - indexed for MEDLINE]
Free Article
5.

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.

PMID:
16326827
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

[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
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

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.

PMID:
12632327
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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.

PMID:
12362026
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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
[PubMed - indexed for MEDLINE]
11.

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.

PMID:
9634515
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia.

Iughetti P, Alonso LG, Wilcox W, Alonso N, Passos-Bueno MR.

Am J Med Genet. 2000 Dec 18;95(5):482-91.

PMID:
11146471
[PubMed - indexed for MEDLINE]
13.

Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: evidence for an ancestral founder mutation and locus refinement.

Diaz GA, Gelb BD, Ali F, Sakati N, Sanjad S, Meyer BF, Kambouris M.

Am J Med Genet. 1999 Jul 2;85(1):48-52.

PMID:
10377012
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.

Localization of a novel locus for alopecia with mental retardation syndrome to chromosome 3q26.33-q27.3.

John P, Ali G, Chishti MS, Naqvi SM, Leal SM, Ahmad W.

Hum Genet. 2006 Jan;118(5):665-7. Epub 2005 Nov 5.

PMID:
16273389
[PubMed - indexed for MEDLINE]
16.

Diastrophic dysplasia gene maps to the distal long arm of chromosome 5.

Hästbacka J, Kaitila I, Sistonen P, de la Chapelle A.

Proc Natl Acad Sci U S A. 1990 Oct;87(20):8056-9.

PMID:
1978318
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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
[PubMed - indexed for MEDLINE]
18.

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
[PubMed - indexed for MEDLINE]
19.

Genetic linkage of progressive pseudorheumatoid dysplasia to a 3-cM interval of chromosome 6q22.

Fischer J, Urtizberea JA, Pavek S, Vandiedonck C, Bruls T, Saker S, Alkatip Y, Prud'homme JF, Weissenbach J.

Hum Genet. 1998 Jul;103(1):60-4.

PMID:
9737778
[PubMed - indexed for MEDLINE]
20.

Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.

Goobie S, Popovic M, Morrison J, Ellis L, Ginzberg H, Boocock GR, Ehtesham N, Bétard C, Brewer CG, Roslin NM, Hudson TJ, Morgan K, Fujiwara TM, Durie PR, Rommens JM.

Am J Hum Genet. 2001 Apr;68(4):1048-54. Epub 2001 Mar 15.

PMID:
11254457
[PubMed - indexed for MEDLINE]
Free PMC Article

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk