Literature DB >> 572429

A presumptive new variant of Norrie's disease.

C A Moreira-Filho, I Neustein.   

Abstract

The present report describes a Brazilian Negro sibship with six males affected by a presumptive new variant of Norrie's disease, an X-linked congenital oculo-acoustical-cerebral degeneration. In addition to the typical stigmata of the disease, all the patients were microcephalic and two of them had cryptorchidism. Possible non-genetic aetiology was investigated with negative results. Xg blood group studies were informative and the lod scores are given, together with those for two previously reported families with Norrie's disease.

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Year:  1979        PMID： 572429      PMCID： PMC1012736          DOI： 10.1136/jmg.16.2.125

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


  7 in total

1.  NORRIE'S DISEASE AND THE XG BLOOD GROUP SYSTEM: LINKAGE DATA.

Authors:  M WARBURG; M HAUGE; R SANGER
Journal:  Acta Genet Stat Med       Date:  1965

2.  Sequential tests for the detection of linkage.

Authors:  N E MORTON
Journal:  Am J Hum Genet       Date:  1955-09       Impact factor: 11.025

3.  Genetic linkage studies in a Negro kindred with Norrie's disease.

Authors:  W E Nance; S Hara; A Hansen; J Elliott; M Lewis; B Chown
Journal:  Am J Hum Genet       Date:  1969-09       Impact factor: 11.025

4.  Head circumference from birth to eighteen years. Practical composite international and interracial graphs.

Authors:  G Nellhaus
Journal:  Pediatrics       Date:  1968-01       Impact factor: 7.124

5.  Distribution and heredity of erythrocyte G6PD activity and electrophoretic variants among different racial groups at São Paulo, Brazil.

Authors:  P H Saldanha; F G Nóbrega; J C Maia
Journal:  J Med Genet       Date:  1969-03       Impact factor: 6.318

6.  Norrie's disease.

Authors:  M Warburg
Journal:  Birth Defects Orig Artic Ser       Date:  1971-03

7.  Norrie's disease--differential diagnosis and treatment.

Authors:  M Warburg
Journal:  Acta Ophthalmol (Copenh)       Date:  1975-03
  7 in total
  6 in total

1.  Linkage analysis of Norrie disease with X-chromosomal ornithine aminotransferase.

Authors:  J B Bateman
Journal:  Trans Am Ophthalmol Soc       Date:  1992

2.  Norrie's disease: a prospective study of development.

Authors:  H M Goodyear; P M Sonksen; H McConachie
Journal:  Arch Dis Child       Date:  1989-11       Impact factor: 3.791

3.  Norrie disease resulting from a gene deletion: clinical features and DNA studies.

Authors:  D Donnai; R C Mountford; A P Read
Journal:  J Med Genet       Date:  1988-02       Impact factor: 6.318

4.  Norrie disease gene is distinct from the monoamine oxidase genes.

Authors:  K B Sims; L Ozelius; T Corey; W B Rinehart; R Liberfarb; J Haines; W J Chen; R Norio; E Sankila; A de la Chapelle
Journal:  Am J Hum Genet       Date:  1989-09       Impact factor: 11.025

5.  Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome.

Authors:  L M Bleeker-Wagemakers; U Friedrich; A Gal; T F Wienker; M Warburg; H H Ropers
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

6.  Identification of a variant in NDP associated with X-linked retinal dysplasia in the English cocker spaniel dog.

Authors:  Hannah Joyce; Louise M Burmeister; Hattie Wright; Lorraine Fleming; James A C Oliver; Cathryn Mellersh
Journal:  PLoS One       Date:  2021-05-04       Impact factor: 3.752
  6 in total

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