Literature DB >> 2213845

Dyggve-Melchior-Clausen syndrome.

P Beighton1.   

Abstract

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Year:  1990        PMID： 2213845      PMCID： PMC1017201          DOI： 10.1136/jmg.27.8.512

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  12 in total

1.  Osteochondrodystrophy (Morquio-Brailsford type); occurrence in three siblings.

Authors:  R SMITH; J J McCORT
Journal:  Calif Med       Date:  1958-01

2.  Heterogeneity of Dyggve-Melchior-Clausen dwarfism.

Authors:  J Spranger; B Bierbaum; J Herrmann
Journal:  Hum Genet       Date:  1976-08-30       Impact factor: 4.132

3.  The Dyggve-Melchior-Clausen syndrome.

Authors:  J Spranger; P Maroteaux; V M Der Kaloustian
Journal:  Radiology       Date:  1975-02       Impact factor: 11.105

4.  [Dyggve-Melchior-Clausen syndrome].

Authors:  F A Beemer; R C Hennekam
Journal:  Tijdschr Kindergeneeskd       Date:  1984-06

5.  [2 further cases of Dyggve-Melchior-Clausen syndrome with hypoplasia of the odontoid apophysis and spinal compression].

Authors:  J Naffah; N Taleb
Journal:  Arch Fr Pediatr       Date:  1974-12

6.  The Dyggve-Melchior-Clausen syndrome.

Authors:  J Naffah
Journal:  Am J Hum Genet       Date:  1976-11       Impact factor: 11.025

7.  Dyggve-Melchior-Clausen syndrome: genetic studies and report of affected sibs.

Authors:  S P Toledo; P H Saldanha; C Lamego; P A Mourão; C P Dietrich; E Mattar
Journal:  Am J Med Genet       Date:  1979

8.  Dyggve-Melchior-Clausen syndrome: normal degradation of proteodermatan sulfate, proteokeratan sulfate and heparan sulfate.

Authors:  M Beck; R Lücke; H Kresse
Journal:  Clin Chim Acta       Date:  1984-08-15       Impact factor: 3.786

9.  Abnormal serum alpha 2-macroglobulin in Dyggve-Melchior-Clausen syndrome.

Authors:  S C Rastogi; J Clausen; J C Melchior; H V Dyggve
Journal:  J Clin Chem Clin Biochem       Date:  1980-01

10.  Lysosomal (leucocyte) proteinase and sulfatase levels in Dyggve-Melchior-Clausen (DMC) syndrome.

Authors:  S C Rastogi; J Clausen; J C Melchior; H V Dyggve; G E Jensen
Journal:  Acta Neurol Scand       Date:  1977-11       Impact factor: 3.209
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  5 in total

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

Authors:  Nadia Ehtesham; Rita M Cantor; Lily M King; Kent Reinker; Berkley R Powell; Alan Shanske; Sheila Unger; David L Rimoin; Daniel H Cohn
Journal:  Am J Hum Genet       Date:  2002-08-02       Impact factor: 11.025

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

Authors:  C Thauvin-Robinet; V El Ghouzzi; W Chemaitilly; N Dagoneau; O Boute; G Viot; A Mégarbané; A Sefiani; A Munnich; M Le Merrer; V Cormier-Daire
Journal:  J Med Genet       Date:  2002-10       Impact factor: 6.318

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

Authors:  Mona S Aglan; Samia A Temtamy; Ekram Fateen; Adel M Ashour; Khamis Eldeeb; Gamal A Hosny
Journal:  J Child Orthop       Date:  2009-10-09       Impact factor: 1.548

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

Authors:  Siham Chafai Elalaoui; Tajir Mariam; Ratbi Ilham; Doubaj Yassamine; Sefiani Abdelaziz
Journal:  Indian J Hum Genet       Date:  2011-05

5.  Bilateral Severe Genu Varum in Dyggve-Melchior-Clausen Syndrome - A Case Report.

Authors:  Amit Kumar Yadav; Farokh Wadia; Sangeet Gawhale; Sameer Panchal; Pritam Talukder; Mitali Mokashi
Journal:  J Orthop Case Rep       Date:  2021-08
  5 in total

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