Literature DB >> 8317487

Molecular heterogeneity: a clinical dilemma. Clinical heterogeneity: a molecular dilemma.

M Godfrey.   

Abstract

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Year:  1993        PMID： 8317487      PMCID： PMC1682237     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  24 in total

1.  Procollagen II gene mutation in Stickler syndrome.

Authors:  D M Brown; B E Nichols; T A Weingeist; V C Sheffield; A E Kimura; E M Stone
Journal:  Arch Ophthalmol       Date:  1992-11

2.  Degeneratio hyaloideo-retinalis herditaria.

Authors:  L M JANSEN
Journal:  Ophthalmologica       Date:  1962       Impact factor: 3.250

3.  A linkage map of 10 loci flanking the Marfan syndrome locus on 15q: results of an International Consortium study.

Authors:  M Sarfarazi; P Tsipouras; R Del Mastro; M Kilpatrick; P Farndon; M Boxer; A Bridges; C Boileau; C Junien; C Hayward
Journal:  J Med Genet       Date:  1992-02       Impact factor: 6.318

4.  Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the gene.

Authors:  K Kainulainen; B Steinmann; F Collins; H C Dietz; C A Francomano; A Child; M W Kilpatrick; D J Brock; M Keston; R E Pyeritz
Journal:  Am J Hum Genet       Date:  1991-09       Impact factor: 11.025

5.  Congenital contractural arachnodactyly. A heritable disorder of connective tissue.

Authors:  R K Beals; F Hecht
Journal:  J Bone Joint Surg Am       Date:  1971-07       Impact factor: 5.284

6.  Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes.

Authors:  C Boileau; G Jondeau; M C Babron; M Coulon; J A Alexandre; L Sakai; J Melki; G Delorme; O Dubourg; C Bonaïti-Pellié
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

7.  The Stickler syndrome.

Authors:  J M Opitz; T France; J Herrmann; J W Spranger
Journal:  N Engl J Med       Date:  1972-03-09       Impact factor: 91.245

8.  Vitreoretinal degeneration as a sign of generalized connective tissue diseases.

Authors:  I H Maumenee
Journal:  Am J Ophthalmol       Date:  1979-09       Impact factor: 5.258

Review 9.  A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.

Authors:  N N Ahmad; D M McDonald-McGinn; E H Zackai; R G Knowlton; D LaRossa; J DiMascio; D J Prockop
Journal:  Am J Hum Genet       Date:  1993-01       Impact factor: 11.025

10.  Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy)

Authors:  J Körkkö; P Ritvaniemi; L Haataja; H Kääriäinen; K I Kivirikko; D J Prockop; L Ala-Kokko
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025
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  3 in total

1.  A new class of colorectal cancer gene.

Authors:  L Cawkwell; P Quirke
Journal:  Gut       Date:  1995-05       Impact factor: 23.059

2.  Transition from squamous cell carcinoma to adenocarcinoma in adenosquamous carcinoma of the lung.

Authors:  H Kanazawa; M Ebina; N Ino-Oka; M Shimizukawa; T Takahashi; S Fujimura; T Imai; T Nukiwa
Journal:  Am J Pathol       Date:  2000-04       Impact factor: 4.307

3.  Abnormal fibrillin assembly by dermal fibroblasts from two patients with Marfan syndrome.

Authors:  C M Kielty; C A Shuttleworth
Journal:  J Cell Biol       Date:  1994-03       Impact factor: 10.539
  3 in total

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