Literature DB >> 8071964

Genetic heterogeneity in Rieger eye malformation.

E Legius1, C E de Die-Smulders, F Verbraak, H Habex, R Decorte, P Marynen, J P Fryns, J J Cassiman.   

Abstract

A three generation family with Rieger eye malformation sequence is described. No other abnormalities were present apart from the eye malformation. Linkage to EGF and D4S193 localised in 4q25 was excluded and this indicates that Rieger eye malformation is genetically different from typical Rieger syndrome with teeth and umbilical anomalies.

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Mesh：

Year:  1994        PMID： 8071964      PMCID： PMC1049812          DOI： 10.1136/jmg.31.4.340

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  10 in total

1.  Genetic and physical maps of human chromosome 4 based on dinucleotide repeats.

Authors:  K A Mills; K H Buetow; Y Xu; J L Weber; M R Altherr; J J Wasmuth; J C Murray
Journal:  Genomics       Date:  1992-10       Impact factor: 5.736

2.  Strategies for characterizing highly polymorphic markers in human gene mapping.

Authors:  J Ott
Journal:  Am J Hum Genet       Date:  1992-08       Impact factor: 11.025

3.  The Rieger syndrome.

Authors:  R J Jorgenson; L S Levin; H E Cross; F Yoder; T E Kelly
Journal:  Am J Med Genet       Date:  1978

4.  Incorrect specification of marker allele frequencies: effects on linkage analysis.

Authors:  N B Freimer; L A Sandkuijl; S M Blower
Journal:  Am J Hum Genet       Date:  1993-06       Impact factor: 11.025

5.  A case of partial monosomy 21q22.2 associated with Rieger's syndrome.

Authors:  F Nielsen; L Trånebjaerg
Journal:  J Med Genet       Date:  1984-06       Impact factor: 6.318

6.  Interstitial deletion 4q and Rieger syndrome.

Authors:  I Ligutić; L Brecević; I Petković; T Kalogjera; Z Rajić
Journal:  Clin Genet       Date:  1981-11       Impact factor: 4.438

7.  Pericentric inversion and partial monosomy 4q associated with congenital anomalies.

Authors:  F Serville; A Broustet
Journal:  Hum Genet       Date:  1977-11-10       Impact factor: 4.132

8.  Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Am J Hum Genet       Date:  1985-05       Impact factor: 11.025

9.  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

10.  The Rieger syndrome and a chromosome 13 deletion.

Authors:  R A Stathacopoulos; J B Bateman; R S Sparkes; R S Hepler
Journal:  J Pediatr Ophthalmol Strabismus       Date:  1987 Jul-Aug       Impact factor: 1.402
  10 in total
  6 in total

1.  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

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.  Mapping of a congenital microcoria locus to 13q31-q32.

Authors:  C Rouillac; O Roche; D Marchant; L Bachner; A Kobetz; P J Toulemont; C Orssaud; M Urvoy; S Odent; B Le Marec; M Abitbol; J L Dufier
Journal:  Am J Hum Genet       Date:  1998-05       Impact factor: 11.025

4.  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

5.  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

6.  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
  6 in total

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