Literature DB >> 7077624

Marshall/Stickler syndrome.

M Baraitser.   

Abstract

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Mesh：

Year:  1982        PMID： 7077624      PMCID： PMC1048845          DOI： 10.1136/jmg.19.2.139

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


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  6 in total

1.  Letter: Marshall syndrome: eulogy or resurrection?

Authors:  H Zellweger
Journal:  J Pediatr       Date:  1975-05       Impact factor: 4.406

2.  HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY.

Authors:  G B STICKLER; P G BELAU; F J FARRELL; J D JONES; D G PUGH; A G STEINBERG; L E WARD
Journal:  Mayo Clin Proc       Date:  1965-06       Impact factor: 7.616

3.  Generalized osseous abnormalities in the Marshall syndrome.

Authors:  J J O'Donnell; S Sirkin; B D Hall
Journal:  Birth Defects Orig Artic Ser       Date:  1976

4.  Letter: The demise of the Marshall syndrome.

Authors:  M M Cohen
Journal:  J Pediatr       Date:  1974-12       Impact factor: 4.406

5.  The Marshall syndrome: report of a new family.

Authors:  H Zellweger; J K Smith; P Grützner
Journal:  J Pediatr       Date:  1974-06       Impact factor: 4.406

6.  Abnormal facies, myopia, and short stature.

Authors:  C G Keith; R H Dobbs; D G Shaw; K Cottrall
Journal:  Arch Dis Child       Date:  1972-10       Impact factor: 3.791
  6 in total
  8 in total

1.  The genetics of deafness.

Authors:  W Reardon; M Pembrey
Journal:  Arch Dis Child       Date:  1990-11       Impact factor: 3.791

2.  Stickler's syndrome.

Authors:  I K Temple
Journal:  J Med Genet       Date:  1989-02       Impact factor: 6.318

3.  The Marshall and Stickler syndromes: objective rejection of lumping.

Authors:  S Aymé; M Preus
Journal:  J Med Genet       Date:  1984-02       Impact factor: 6.318

4.  Epiphyseal dysplasia of the femoral head, mild vertebral abnormality, myopia, and sensorineural deafness: report of a pedigree with autosomal dominant inheritance.

Authors:  K D MacDermot; S C Roth; C Hall; R M Winter
Journal:  J Med Genet       Date:  1987-10       Impact factor: 6.318

5.  Significant ophthalmoarthropathy associated with ectodermal dysplasia in a child with Marshall-Stickler overlap: a case report.

Authors:  Ali Al Kaissi; Rudolf Ganger; Klaus Klaushofer; Franz Grill
Journal:  Cases J       Date:  2008-10-24

Review 6.  A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature.

Authors:  Yousuke Higuchi; Kosei Hasegawa; Miho Yamashita; Hiroyuki Tanaka; Hirokazu Tsukahara
Journal:  J Med Case Rep       Date:  2017-08-26

7.  A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia.

Authors:  Sophia B Hufnagel; K Nicole Weaver; Robert B Hufnagel; Patricia I Bader; Elizabeth K Schorry; Robert J Hopkin
Journal:  Am J Med Genet A       Date:  2014-08-04       Impact factor: 2.578

8.  Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall-Stickler syndrome spectrum.

Authors:  Long Guo; Nursel H Elcioglu; Zheng Wang; Yasemin K Demirkol; Pinar Isguven; Naomichi Matsumoto; Gen Nishimura; Noriko Miyake; Shiro Ikegawa
Journal:  Hum Genome Var       Date:  2017-10-05
  8 in total

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