Literature DB >> 6507476

"Unstable premutation" in achondroplasia: penetrance vs phenotrance.

J M Opitz.   

Abstract

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Year:  1984        PMID: 6507476     DOI: 10.1002/ajmg.1320190207

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


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  7 in total

1.  Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy.

Authors:  T Grimm; B Müller; C R Müller; M Janka
Journal:  J Med Genet       Date:  1990-11       Impact factor: 6.318

2.  Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome.

Authors:  B Arveiler; G de Saint-Basile; A Fischer; C Griscelli; J L Mandel
Journal:  Am J Hum Genet       Date:  1990-05       Impact factor: 11.025

Review 3.  Review and hypotheses: somatic mosaicism: observations related to clinical genetics.

Authors:  J G Hall
Journal:  Am J Hum Genet       Date:  1988-10       Impact factor: 11.025

4.  Allelic instability in mitosis: a unified model for dominant disorders.

Authors:  C J Zheng; B Byers; S H Moolgavkar
Journal:  Proc Natl Acad Sci U S A       Date:  1993-11-01       Impact factor: 11.205

5.  Achondroplasia in sibs of normal parents.

Authors:  N Philip; M Auger; J F Mattei; F Giraud
Journal:  J Med Genet       Date:  1988-12       Impact factor: 6.318

6.  De novo achondroplasia causing four consecutive unsuccessful pregnancies: a case report.

Authors:  Anthony Osita Igwegbe; George Uchenna Eleje; Ikechukwu Francis Ugwueke
Journal:  J Med Case Rep       Date:  2012-08-30

7.  Nonrandom association of a type II procollagen genotype with achondroplasia.

Authors:  C E Eng; R M Pauli; C M Strom
Journal:  Proc Natl Acad Sci U S A       Date:  1985-08       Impact factor: 11.205

  7 in total

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