Literature DB >> 3572998

Linkage studies in a pedigree with Van der Woude syndrome.

T F Wienker, G Hudek, S Bissbort, A Mayerová, G Mauff, K Bender.   

Abstract

A kindred segregating for Van der Woude syndrome (VWS) through five generations is described. Biochemical and serological phenotypes at 36 polymorphic marker loci have been determined, of which 27 were informative for linkage analysis to the VWS gene (LIPED 3 computer programme). Lod scores are reported and show exclusion of close linkage for most of the marker loci. Only VWS:Duffy (Fy) resulted in uniformly positive lod scores (theta = 0.0, z(theta) = 1.31).

Entities:  

Mesh：

Year:  1987        PMID： 3572998      PMCID： PMC1049949          DOI： 10.1136/jmg.24.3.160

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


  6 in total

1.  Fistula labii inferioris congenita and its association with cleft lip and palate.

Authors:  A VAN DER WOUDE
Journal:  Am J Hum Genet       Date:  1954-06       Impact factor: 11.025

2.  Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors:  J Ott
Journal:  Am J Hum Genet       Date:  1974-09       Impact factor: 11.025

3.  Linkage studies in Van der Woude syndrome.

Authors:  J R Eastman; D Bixler; V Escobar
Journal:  J Med Genet       Date:  1978-06       Impact factor: 6.318

4.  The syndrome of pits of the lower lip and cleft lip and/or palate. Genetic considerations.

Authors:  J Cervenka; R J Gorlin; V E Anderson
Journal:  Am J Hum Genet       Date:  1967-05       Impact factor: 11.025

5.  Lip pits and congenital absence of second premolars: varied expression of the Lip Pits syndrome.

Authors:  E L Schneider
Journal:  J Med Genet       Date:  1973-12       Impact factor: 6.318

6.  The van der Woude syndrome in a large kindred: variability, penetrance, genetic risks.

Authors:  P Janku; M Robinow; T Kelly; R Bralley; A Baynes; M T Edgerton
Journal:  Am J Med Genet       Date:  1980
  6 in total
  5 in total

1.  A preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41.

Authors:  B C Schutte; B C Bjork; K B Coppage; M I Malik; S G Gregory; D J Scott; L M Brentzell; Y Watanabe; M J Dixon; J C Murray
Journal:  Genome Res       Date:  2000-01       Impact factor: 9.043

2.  The human QARS locus: assignment of the human gene for glutaminyl-tRNA synthetase to chromosome 1q32-42.

Authors:  N Kunze; E Bittler; R Fett; B Schray; H Hameister; K H Wiedorn; R Knippers
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

3.  Linkage of Van der Woude syndrome (VWS) to REN and exclusion of the candidate gene TGFB2 from the disease locus in a large pedigree.

Authors:  A Sander; H Moser; S Liechti-Gallati; T Grimm; M Zingg; J Raveh
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

4.  Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome Iq.

Authors:  J C Murray; D Y Nishimura; K H Buetow; H H Ardinger; M A Spence; R S Sparkes; R E Falk; P M Falk; R J Gardner; E M Harkness
Journal:  Am J Hum Genet       Date:  1990-03       Impact factor: 11.025

Review 5.  Tooth agenesis and orofacial clefting: genetic brothers in arms?

Authors:  M Phan; F Conte; K D Khandelwal; C W Ockeloen; T Bartzela; T Kleefstra; H van Bokhoven; M Rubini; H Zhou; C E L Carels
Journal:  Hum Genet       Date:  2016-10-03       Impact factor: 4.132
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.