Literature DB >> 9326342

Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25.

D B Gould, A J Mears, W G Pearce, M A Walter.   

Abstract

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Year:  1997        PMID: 9326342      PMCID: PMC1715932     

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


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  13 in total

1.  The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type.

Authors:  N E MORTON
Journal:  Am J Hum Genet       Date:  1956-06       Impact factor: 11.025

2.  A second locus for Rieger syndrome maps to chromosome 13q14.

Authors:  J C Phillips; E A del Bono; J L Haines; A M Pralea; J S Cohen; L J Greff; J L Wiggs
Journal:  Am J Hum Genet       Date:  1996-09       Impact factor: 11.025

3.  Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25.

Authors:  A J Mears; F Mirzayans; D B Gould; W G Pearce; M A Walter
Journal:  Am J Hum Genet       Date:  1996-12       Impact factor: 11.025

4.  Axenfeld-Rieger syndrome: a theory of mechanism and distinctions from the iridocorneal endothelial syndrome.

Authors:  M B Shields
Journal:  Trans Am Ophthalmol Soc       Date:  1983

5.  Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4.

Authors:  J C Murray; S R Bennett; A E Kwitek; K W Small; A Schinzel; W L Alward; J L Weber; G I Bell; K H Buetow
Journal:  Nat Genet       Date:  1992-09       Impact factor: 38.330

6.  Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25).

Authors:  E Héon; B P Sheth; J W Kalenak; S L Sunden; L M Streb; C M Taylor; W L Alward; V C Sheffield; E M Stone
Journal:  Hum Mol Genet       Date:  1995-08       Impact factor: 6.150

7.  Aniridia, congenital glaucoma, and hydrocephalus in a male infant with ring chromosome 6.

Authors:  H Levin; R Ritch; R Barathur; M W Dunn; C Teekhasaenee; S Margolis
Journal:  Am J Med Genet       Date:  1986-10

8.  Autosomal dominant iridogoniodysgenesis: genetic features.

Authors:  W G Pearce; H T Wyatt; T A Boyd; R S Ombres; A B Salter
Journal:  Can J Ophthalmol       Date:  1983-02       Impact factor: 1.882

9.  Genetic heterogeneity in Rieger eye malformation.

Authors:  E Legius; C E de Die-Smulders; F Verbraak; H Habex; R Decorte; P Marynen; J P Fryns; J J Cassiman
Journal:  J Med Genet       Date:  1994-04       Impact factor: 6.318

10.  The human PAX6 gene is mutated in two patients with aniridia.

Authors:  T Jordan; I Hanson; D Zaletayev; S Hodgson; J Prosser; A Seawright; N Hastie; V van Heyningen
Journal:  Nat Genet       Date:  1992-08       Impact factor: 38.330

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  12 in total

1.  Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.

Authors:  A J Mears; T Jordan; F Mirzayans; S Dubois; T Kume; M Parlee; R Ritch; B Koop; W L Kuo; C Collins; J Marshall; D B Gould; W Pearce; P Carlsson; S Enerbäck; J Morissette; S Bhattacharya; B Hogan; V Raymond; M A Walter
Journal:  Am J Hum Genet       Date:  1998-11       Impact factor: 11.025

Review 2.  Common and rare genetic risk factors for glaucoma.

Authors:  Ryan Wang; Janey L Wiggs
Journal:  Cold Spring Harb Perspect Med       Date:  2014-09-18       Impact factor: 6.915

3.  FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.

Authors:  Kimberly A Aldinger; Ordan J Lehmann; Louanne Hudgins; Victor V Chizhikov; Alexander G Bassuk; Lesley C Ades; Ian D Krantz; William B Dobyns; Kathleen J Millen
Journal:  Nat Genet       Date:  2009-08-09       Impact factor: 38.330

4.  A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye.

Authors:  D Y Nishimura; C C Searby; W L Alward; D Walton; J E Craig; D A Mackey; K Kawase; A B Kanis; S R Patil; E M Stone; V C Sheffield
Journal:  Am J Hum Genet       Date:  2001-01-18       Impact factor: 11.025

Review 5.  Distal 6p deletion syndrome: a report of a case with anterior chamber eye anomaly and review of published reports.

Authors:  C J Law; A M Fisher; I K Temple
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

6.  Disruption of FOXF2 as a Likely Cause of Absent Uvula in an Egyptian Family.

Authors:  R Seselgyte; D Bryant; C Demetriou; M Ishida; E Peskett; N Moreno; D Morrogh; D Sell; M Lees; M Farrall; G E Moore; B Sommerlad; E Pauws; P Stanier
Journal:  J Dent Res       Date:  2019-03-27       Impact factor: 6.116

7.  Update on congenital glaucoma.

Authors:  Anil K Mandal; Debasis Chakrabarti
Journal:  Indian J Ophthalmol       Date:  2011-01       Impact factor: 1.848

8.  Novel c.300_301delinsT mutation in PITX2 in a Korean family with Axenfeld-Rieger syndrome.

Authors:  Jae Won Yun; Hyun-Kyung Cho; Soo-Young Oh; Chang-Seok Ki; Changwon Kee
Journal:  Ann Lab Med       Date:  2013-08-08       Impact factor: 3.464

9.  Correlation of FOXC1 protein with clinicopathological features in serous ovarian tumors.

Authors:  Lu-Ying Wang; Lan-Shuang Li; Zhu Yang
Journal:  Oncol Lett       Date:  2015-12-03       Impact factor: 2.967

Review 10.  Ocular genetics in the genomics age.

Authors:  Michael A Walter; Tayebeh Rezaie; Robert B Hufnagel; Gavin Arno
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-09-08       Impact factor: 3.359

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