Literature DB >> 6660244

Dominance and homozygosity in man.

R M Pauli.   

Abstract

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Year:  1983        PMID： 6660244     DOI： 10.1002/ajmg.1320160403

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


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  8 in total

1.  Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita.

Authors:  I D Young; N R Ruggins; J M Somers; J M Zuccollo; N Rutter
Journal:  J Med Genet       Date:  1992-11       Impact factor: 6.318

2.  Hypoplastic tibiae with postaxial polysyndactyly: a new dominant syndrome?

Authors:  S A Al-Awadi; K K Naguib; T I Farag; A S Teebi
Journal:  J Med Genet       Date:  1987-06       Impact factor: 6.318

3.  Homozygosity in piebald trait.

Authors:  M A Hultén; M M Honeyman; A J Mayne; M J Tarlow
Journal:  J Med Genet       Date:  1987-09       Impact factor: 6.318

Review 4.  The molecular basis of genetic dominance.

Authors:  A O Wilkie
Journal:  J Med Genet       Date:  1994-02       Impact factor: 6.318

5.  Limb-girdle type muscular dystrophy in a large family with distal myopathy: homozygous manifestation of a dominant gene?

Authors:  B Udd
Journal:  J Med Genet       Date:  1992-06       Impact factor: 6.318

Review 6.  Achondroplasia: a comprehensive clinical review.

Authors:  Richard M Pauli
Journal:  Orphanet J Rare Dis       Date:  2019-01-03       Impact factor: 4.123

7.  Early preclinical diagnosis of dominant pseudoxanthoma elasticum by specific ultrastructural changes of dermal elastic and collagen tissue in a family at risk.

Authors:  I Hausser; I Anton-Lamprecht
Journal:  Hum Genet       Date:  1991-10       Impact factor: 4.132

8.  A large Turkish kindred with syndactyly type II (synpolydactyly). 2. Homozygous phenotype?

Authors:  A N Akarsu; O Akhan; B S Sayli; U Sayli; G Baskaya; M Sarfarazi
Journal:  J Med Genet       Date:  1995-06       Impact factor: 6.318
  8 in total

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