Literature DB >> 8151650

Low segregation ratios in autosomal recessive disorders.

J C Oosterwijk.   

Abstract

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Year:  1994        PMID： 8151650      PMCID： PMC1049619          DOI： 10.1136/jmg.31.1.85-b

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


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  11 in total

1.  Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients.

Authors:  O Mäkitie
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

2.  DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA.

Authors:  V A MCKUSICK; R ELDRIDGE; J A HOSTETLER; U RUANGWIT; J A EGELAND
Journal:  Bull Johns Hopkins Hosp       Date:  1965-05

3.  Phenotypic heterogeneity and the single gene.

Authors:  G K Suthers; K E Davies
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

4.  Low segregation ratios in autosomal recessive disorders.

Authors:  S Bundey; I D Young
Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318

5.  Questions of expansion.

Authors:  J L Mandel
Journal:  Nat Genet       Date:  1993-05       Impact factor: 38.330

6.  Immunologic studies of cartilage-hair hypoplasia in the Amish.

Authors:  J E Trojak; S H Polmar; J A Winkelstein; S Hsu; C Francomano; G F Pierce; J J Scillian; A N Gale; V A McKusick
Journal:  Johns Hopkins Med J       Date:  1981-04

Review 7.  Cartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick: description of seven patients and review of the literature.

Authors:  I van der Burgt; A Haraldsson; J C Oosterwijk; A J van Essen; C Weemaes; B Hamel
Journal:  Am J Med Genet       Date:  1991-12-01

Review 8.  Cartilage hair hypoplasia: immunological aspects and their clinical implications.

Authors:  S H Polmar; G F Pierce
Journal:  Clin Immunol Immunopathol       Date:  1986-07

9.  Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients.

Authors:  O Mäkitie; I Kaitila
Journal:  Eur J Pediatr       Date:  1993-03       Impact factor: 3.183

10.  Consanguinity sans reproche.

Authors:  L P Ten Kate; H Scheffer; M C Cornel; J G van Lookeren Campagne
Journal:  Hum Genet       Date:  1991-01       Impact factor: 4.132
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