Literature DB >> 7173860

Population genetical aspects of primary congenital glaucoma. I. Incidence, prevalence, gene frequency, and age of onset.

A Gencik, A Gencikova, V Ferák.   

Abstract

This paper presents some characteristics of the population genetics of primary congenital glaucoma in Slovakia. The overall incidence in Slovakia is 1:10,500, while being 1:1,250 in the Gypsy subpopulation of Slovakia and 1:22,000 in the non-Gypsy population. For a special type of congenital primary glaucoma, transmitted by autosomal recessive inheritance in Gypsies the gene frequency may be estimated to reach 2.8%. Early onset of the disease enabling diagnosis soon after birth in 82% of patients may be considered another characteristic of this type of primary congenital glaucoma.

Entities:  

Mesh:

Year:  1982        PMID: 7173860     DOI: 10.1007/bf00296440

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  13 in total

1.  [Considerations on heredity of infantile glaucoma; concerning two new observations with affection of two successive generations].

Authors:  Y DELMARCELLE
Journal:  J Genet Hum       Date:  1957-05

2.  [The genetics of congenital glaucoma: a study of 231 cases].

Authors:  M L Briard; J Feingold; J Kaplan; C Bonaiti; J J Aron; M F Blanck; S Delthil; J Frezal
Journal:  J Genet Hum       Date:  1976-11

3.  [Clinical analysis of families with hydrophthalmia].

Authors:  A Gerinec; A Gencíková
Journal:  Cesk Oftalmol       Date:  1977-03

4.  [Some aspects of congenital glaucoma (author's transl)].

Authors:  S Lalive d'Epinay; C Remé
Journal:  Klin Monbl Augenheilkd       Date:  1977-02       Impact factor: 0.700

5.  [Genetic heterogenicity of hydrophthalmos].

Authors:  A Gencíková; A Gencík; A Gerinec
Journal:  Cesk Oftalmol       Date:  1977-01

6.  Genetic heterogeneity of congenital glaucoma.

Authors:  A Gencík; A Gencíková; A Gerinec
Journal:  Clin Genet       Date:  1980-04       Impact factor: 4.438

7.  Segregation analysis of congenital glaucoma: approach by two differential models.

Authors:  F Demenais; R C Elston; C Bonaiti; M L Briard; E B Kaplan; K K Namboodiri
Journal:  Am J Hum Genet       Date:  1981-03       Impact factor: 11.025

8.  [Congenital glaucoma. Clinical, therapeutic and histological aspects].

Authors:  S Lalive d'Epinay
Journal:  Adv Ophthalmol       Date:  1980

9.  Congenital, infantile, and juvenile glaucoma.

Authors:  M H Luntz
Journal:  Ophthalmology       Date:  1979-05       Impact factor: 12.079

10.  Congenital glaucoma: genetic models.

Authors:  F Demenais; C Bonaïti; M L Briard; J Feingold; J Frézal
Journal:  Hum Genet       Date:  1979-02-15       Impact factor: 4.132

View more
  37 in total

1.  Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma.

Authors:  M Plásilová; I Stoilov; M Sarfarazi; L Kádasi; E Feráková; V Ferák
Journal:  J Med Genet       Date:  1999-04       Impact factor: 6.318

2.  Prevalence of congenital anomaly syndromes in a Spanish gypsy population.

Authors:  M L Martínez-Frías; E Bermejo
Journal:  J Med Genet       Date:  1992-07       Impact factor: 6.318

3.  Carrier frequency of CYP1B1 mutations in the United States (an American Ophthalmological Society thesis).

Authors:  Janey L Wiggs; Anne M Langgurth; Keri F Allen
Journal:  Trans Am Ophthalmol Soc       Date:  2014-07

Review 4.  Surgical interventions for primary congenital glaucoma.

Authors:  Deepta Ghate; Xue Wang
Journal:  Cochrane Database Syst Rev       Date:  2015-01-30

5.  Population genetic aspects of primary congenital glaucoma. II. Fitness, parental consanguinity, founder effect.

Authors:  V Ferák; A Gencik; A Gencikova
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

6.  Disease-causing mutations in proteins: structural analysis of the CYP1B1 mutations causing primary congenital glaucoma in humans.

Authors:  Malkaram S Achary; Aramati B M Reddy; Subhabrata Chakrabarti; Shirly G Panicker; Anil K Mandal; Niyaz Ahmed; Dorairajan Balasubramanian; Seyed E Hasnain; Hampapathalu A Nagarajaram
Journal:  Biophys J       Date:  2006-09-08       Impact factor: 4.033

7.  Molecular characterisation of congenital glaucoma in a consanguineous Canadian community: a step towards preventing glaucoma related blindness.

Authors:  S N Martin; J Sutherland; A V Levin; R Klose; M Priston; E Héon
Journal:  J Med Genet       Date:  2000-06       Impact factor: 6.318

8.  LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.

Authors:  Dimitar N Azmanov; Stanislava Dimitrova; Laura Florez; Sylvia Cherninkova; Dragomir Draganov; Bharti Morar; Rosmawati Saat; Manel Juan; Juan I Arostegui; Sriparna Ganguly; Himla Soodyall; Subhabrata Chakrabarti; Harish Padh; Miguel A López-Nevot; Violeta Chernodrinska; Botio Anguelov; Partha Majumder; Lyudmila Angelova; Radka Kaneva; David A Mackey; Ivailo Tournev; Luba Kalaydjieva
Journal:  Eur J Hum Genet       Date:  2010-11-17       Impact factor: 4.246

9.  Genotype and phenotype correlations in congenital glaucoma.

Authors:  David A Hollander; Mansoor Sarfarazi; Ivaylo Stoilov; Irmgard S Wood; Douglas R Fredrick; Jorge A Alvarado
Journal:  Trans Am Ophthalmol Soc       Date:  2006

10.  Mitochondrial DNA analysis in primary congenital glaucoma.

Authors:  Mukesh Tanwar; Tanuj Dada; Ramanjit Sihota; Rima Dada
Journal:  Mol Vis       Date:  2010-03-24       Impact factor: 2.367

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.