Literature DB >> 6929510

Autosomal dominant aniridia: probable linkage to acid phosphatase-1 locus on chromosome 2.

R E Ferrell, A Chakravarti, H M Hittner, V M Riccardi.   

Abstract

Maximum likelihood analysis for linkage between autosomal dominant aniridia and 12 biochemical and serological markers in a single large family showed a probable linkage between autosomal dominant aniridia and the enzyme acid phosphatase-1. The presence of an autosomal dominant aniridia gene linked to acid phosphatase-1 on chromosome arm 2p and the existence of an aniridia syndrome resulting from deletion of band 13 of the short arm of chromosome 11 establishes a chromosome basis for genetic heterogeneity of aniridia phenotypes.

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Year:  1980        PMID: 6929510      PMCID: PMC348540          DOI: 10.1073/pnas.77.3.1580

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN: 0027-8424            Impact factor:   11.205


  21 in total

1.  A pedigree of aniridia with a discussion of germinal mosaicism in man.

Authors:  T E REED; H F FALLS
Journal:  Am J Hum Genet       Date:  1955-03       Impact factor: 11.025

2.  A family study of aniridia.

Authors:  J H GROVE; M W SHAW; G BOURQUE
Journal:  Arch Ophthalmol       Date:  1961-01

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Authors:  W M LEWALLEN
Journal:  AMA Arch Ophthalmol       Date:  1958-06

4.  Aniridia caused by a heritable chromosome 11 deletion.

Authors:  H M Hittner; V M Riccardi; U Francke
Journal:  Ophthalmology       Date:  1979-06       Impact factor: 12.079

5.  Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors:  J Ott
Journal:  Am J Hum Genet       Date:  1974-09       Impact factor: 11.025

6.  [The significance of atypical colobomata and defects of the iris for the diagnosis of the hereditary aniridia syndrome (author's transl)].

Authors:  J W Delleman; J E Winkelman
Journal:  Klin Monbl Augenheilkd       Date:  1973-11       Impact factor: 0.700

7.  [On the manifestation types of aniridia with reference to a family in Schleswig-Holstein].

Authors:  H Behnke; H J Thiel
Journal:  Klin Monbl Augenheilkd       Date:  1967       Impact factor: 0.700

8.  Analysis of crossingover in man.

Authors:  N E Morton
Journal:  Cytogenet Cell Genet       Date:  1978

9.  The Aymara of Western Bolivia. IV. Gene frequencies for eight blood groups and 19 protein and erythrocyte enzyme systems.

Authors:  R E Ferrell; T Bertin; R Young; S A Barton; F Murillo; W J Schull
Journal:  Am J Hum Genet       Date:  1978-09       Impact factor: 11.025

10.  Familial aniridia with preserved ocular function.

Authors:  F J Elsas; I H Maumenee; K R Kenyon; F Yoder
Journal:  Am J Ophthalmol       Date:  1977-05       Impact factor: 5.258

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  13 in total

1.  A genetic study of Hirschsprung disease.

Authors:  J A Badner; W K Sieber; K L Garver; A Chakravarti
Journal:  Am J Hum Genet       Date:  1990-03       Impact factor: 11.025

2.  Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)].

Authors:  J W Moore; S Hyman; S E Antonarakis; E H Mules; G H Thomas
Journal:  Hum Genet       Date:  1986-04       Impact factor: 4.132

Review 3.  Microcytogenetics 1984.

Authors:  J de Grouchy; C Turleau
Journal:  Experientia       Date:  1986-10-15

4.  Atypical vitelliform macular dystrophy in a 5-generation family.

Authors:  H M Hittner; R E Ferrell; R P Borda; J Justice
Journal:  Br J Ophthalmol       Date:  1984-03       Impact factor: 4.638

5.  Genetic mapping: chromosomes 2-5.

Authors:  B Keats
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

6.  Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13.

Authors:  Catherine Turleau; J de Grouchy; J L Dufier; Phuc Lè Hoang; P H Schmelck; R Rappaport; Claire Nihoul-Fékété; Nicole Diebold
Journal:  Hum Genet       Date:  1981-05       Impact factor: 4.132

7.  Wilms' tumor, malformative syndrome, mental retardation and de novo constitutional translocation, t(7;13)(q36;q13).

Authors:  J L Bernard; M A Baeteman; J F Mattei; C Raybaud; F Giraud
Journal:  Eur J Pediatr       Date:  1984-01       Impact factor: 3.183

Review 8.  Aniridia: recent achievements in paediatric practice.

Authors:  I Ivanov; A Shuper; M Shohat; M Snir; R Weitz
Journal:  Eur J Pediatr       Date:  1995-10       Impact factor: 3.183

9.  Detection of a cryptic paracentric inversion within band 11p13 in familial aniridia by fluorescence in situ hybridization.

Authors:  Y Fukushima; J Hoovers; M Mannens; K Wakui; H Ohashi; T Ohno; Y Ueoka; N Niikawa
Journal:  Hum Genet       Date:  1993-04       Impact factor: 4.132

Review 10.  The contribution of associated congenital anomalies in understanding Hirschsprung's disease.

Authors:  S W Moore
Journal:  Pediatr Surg Int       Date:  2006-03-04       Impact factor: 1.827

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