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Literature DB >> 17948455

Congenital Aniridia.

M W Shaw, H F Falls, J V Neel.

Abstract

Entities: Disease

Year: 1960 PMID： 17948455 PMCID： PMC1932171

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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5 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. Huntington's chorea in Michigan. 2. Selection and mutation.

Authors: T E REED; J V NEEL
Journal: Am J Hum Genet Date: 1959-06 Impact factor: 11.025

3. Essential atrophy of the iris: a histopathologic study.

Authors: P HEATH
Journal: Trans Am Ophthalmol Soc Date: 1953

4. Parental age and mutation.

Authors: L S PENROSE
Journal: Lancet Date: 1955-08-13 Impact factor: 79.321

5. A CONSIDERATION OF ANIRIDIA, WITH A PEDIGREE.

Authors: P H Beattie
Journal: Br J Ophthalmol Date: 1947-11 Impact factor: 4.638

5 in total

39 in total

1. Incidence and Prevalence in Human Genetics.

Authors: N C Myrianthopoulos
Journal: Am J Hum Genet Date: 1961-06 Impact factor: 11.025

2. Problem of sex ratio in cases of type I syndactyly.

Authors: C M Woolf; D L Cone
Journal: J Med Genet Date: 1977-04 Impact factor: 6.318

3. Genetics of spherocytosis.

Authors: N E MORTON; A A MACKINNEY; N KOSOWER; R F SCHILLING; M P GRAY
Journal: Am J Hum Genet Date: 1962-06 Impact factor: 11.025

4. Somatic cell hybrid and long-range physical mapping of 11p13 microdissected genomic clones.

Authors: L M Davis; G Senger; H J Lüdecke; U Claussen; B Horsthemke; S S Zhang; B Metzroth; K Hohenfellner; B Zabel; T B Shows
Journal: Proc Natl Acad Sci U S A Date: 1990-09 Impact factor: 11.205

5. Meiotic drive at the myotonic dystrophy and the cone-rod dystrophy loci on chromosome 19q13.3.

Authors: C F Inglehearn; C Y Gregory
Journal: Am J Hum Genet Date: 1997-06 Impact factor: 11.025

6. The Cone Photoreceptor Mosaic in Aniridia: Within-Family Phenotype-Genotype Discordance.

Authors: Hilde R Pedersen; Maureen Neitz; Stuart J Gilson; Erlend C S Landsend; Øygunn Aas Utheim; Tor Paaske Utheim; Rigmor C Baraas
Journal: Ophthalmol Retina Date: 2019-02-05

7. Implication of non-coding PAX6 mutations in aniridia.

Authors: Julie Plaisancié; M Tarilonte; P Ramos; C Jeanton-Scaramouche; V Gaston; H Dollfus; D Aguilera; J Kaplan; L Fares-Taie; F Blanco-Kelly; C Villaverde; C Francannet; A Goldenberg; I Arroyo; J M Rozet; C Ayuso; N Chassaing; P Calvas; M Corton
Journal: Hum Genet Date: 2018-10-05 Impact factor: 4.132