Literature DB >> 1388934

Rieger syndrome and interstitial 4q26 deletion.

J P Fryns1, H Van Den Berghe.   

Abstract

Entities:  

Mesh：

Year:  1992        PMID： 1388934

Source DB:  PubMed          Journal:  Genet Couns        ISSN： 1015-8146


× No keyword cloud information.
  7 in total

Review 1.  Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.

Authors:  Zeynep Tümer; Daniella Bach-Holm
Journal:  Eur J Hum Genet       Date:  2009-06-10       Impact factor: 4.246

2.  Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25-->q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation.

Authors:  A Schinzel; L Brecevic; F Dutly; A Baumer; F Binkert; R H Largo
Journal:  J Med Genet       Date:  1997-12       Impact factor: 6.318

3.  Closing in on the Rieger syndrome gene on 4q25: mapping translocation breakpoints within a 50-kb region.

Authors:  N A Datson; E Semina; A A van Staalduinen; H G Dauwerse; E J Meershoek; J J Heus; R R Frants; J T den Dunnen; J C Murray; G J van Ommen
Journal:  Am J Hum Genet       Date:  1996-12       Impact factor: 11.025

4.  Rieger syndrome locus: a new reciprocal translocation t(4;12)(q25;q15) and a deletion del(4)(q25q27) both break between markers D4S2945 and D4S193.

Authors:  R H Flomen; P A Gorman; R Vatcheva; J Groet; I Barisić; I Ligutić; D Sheer; D Nizetić
Journal:  J Med Genet       Date:  1997-03       Impact factor: 6.318

5.  A new case of an interstitial deletion (4)(q25q27) characterised by molecular cytogenetic techniques and review of the literature.

Authors:  Sandra Anna Becker; Susanne Popp; Klaus Rager; Anna Jauch
Journal:  Eur J Pediatr       Date:  2003-02-19       Impact factor: 3.183

6.  Renal Dysplasia and Progressive Renal Failure in a Newborn with Interstitial Chromosome 4 Deletion 4q25-28.3: A New Phenotype?

Authors:  Cláudia Teles-Silva; Francisca Martins; Sandra Costa; Paulo Soares; Gustavo Rocha; Filipa Flor-de-Lima; Helena Pinto; Carla Ramalho; Renata Oliveira; Otília Brandão; Hercília Guimarães
Journal:  J Pediatr Genet       Date:  2020-01-22

Review 7.  Chromosome abnormalities and the genetics of congenital corneal opacification.

Authors:  A Mataftsi; L Islam; D Kelberman; J C Sowden; K K Nischal
Journal:  Mol Vis       Date:  2011-06-17       Impact factor: 2.367
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.