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Literature DB >> 8751862

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

J C Phillips¹, E A del Bono, J L Haines, A M Pralea, J S Cohen, L J Greff, J L Wiggs.

Abstract

Rieger syndrome is a genetically and phenotypically heterogeneous disorder typically characterized by malformations of the eyes, teeth, and umbilicus. The syndrome is inherited as an autosomal dominant trait and exhibits significant variable expressivity. One locus associated with this disorder has been mapped to 4q25. Using a large four-generation pedigree, we have identified a second locus for Rieger syndrome located on chromosome 13q14.

Entities: Disease Gene

Mesh：

Year: 1996 PMID： 8751862 PMCID： PMC1914897

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

26 in total

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Journal: Nature Date: 1996-03-14 Impact factor: 49.962

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Journal: Proc Natl Acad Sci U S A Date: 1993-05-01 Impact factor: 11.205

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Journal: Nat Genet Date: 1993-11 Impact factor: 38.330

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Authors: J L Wiggs; J L Haines; C Paglinauan; A Fine; C Sporn; D Lou
Journal: Genomics Date: 1994-05-15 Impact factor: 5.736

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

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Journal: Hum Mol Genet Date: 1995-08 Impact factor: 6.150

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10. Differential expression of multiple fork head related genes during gastrulation and axial pattern formation in the mouse embryo.

Authors: H Sasaki; B L Hogan
Journal: Development Date: 1993-05 Impact factor: 6.868

37 in total

Review 1. Current gene discovery strategies for ocular conditions.

Authors: Priya Duggal; Grace Ibay; Alison P Klein
Journal: Invest Ophthalmol Vis Sci Date: 2011-09-29 Impact factor: 4.799

2. Clinical utility gene card for: Axenfeld-Rieger syndrome.

Authors: Nicole Weisschuh; Elfride De Baere; Bernd Wissinger; Zeynep Tümer
Journal: Eur J Hum Genet Date: 2010-10-13 Impact factor: 4.246

3. Periostin regulates collagen fibrillogenesis and the biomechanical properties of connective tissues.

Authors: Russell A Norris; Brook Damon; Vladimir Mironov; Vladimir Kasyanov; Anand Ramamurthi; Ricardo Moreno-Rodriguez; Thomas Trusk; Jay D Potts; Richard L Goodwin; Jeff Davis; Stanley Hoffman; Xuejun Wen; Yukiko Sugi; Christine B Kern; Corey H Mjaatvedt; Debi K Turner; Toru Oka; Simon J Conway; Jeffery D Molkentin; Gabor Forgacs; Roger R Markwald
Journal: J Cell Biochem Date: 2007-06-01 Impact factor: 4.429

Review 4. 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

5. 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

6. Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25.

Authors: D B Gould; A J Mears; W G Pearce; M A Walter
Journal: Am J Hum Genet Date: 1997-09 Impact factor: 11.025

7. Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly.

Authors: T Jordan; N Ebenezer; R Manners; J McGill; S Bhattacharya
Journal: Am J Hum Genet Date: 1997-10 Impact factor: 11.025