Literature DB >> 3812594

Lip pits and deletion 1q32----41.

M Bocian, A P Walker.   

Abstract

A patient with an interstitial deletion of chromosome 1q[del(1q32----41)] was found to have, among other anomalies, congenital lower-lip pits. Lip pits are rare and are found mainly in association with the van der Woude syndrome and the popliteal pterygium syndrome; we cannot find a report of their association with a chromosome anomaly. To our knowledge, interstitial deletion of the segment 1q32----41 has not been reported. This observation raises the possibility that the van der Woude syndrome may be due to a submicroscopic deletion of chromosome 1q.

Entities:  

Mesh:

Year:  1987        PMID: 3812594     DOI: 10.1002/ajmg.1320260223

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  17 in total

1.  Popliteal pterygium syndrome.

Authors:  U G Froster-Iskenius
Journal:  J Med Genet       Date:  1990-05       Impact factor: 6.318

2.  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

3.  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

4.  Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11: exclusion of the locus from these candidate regions.

Authors:  M J Dixon; E Haan; E Baker; D David; N McKenzie; R Williamson; J Mulley; M Farrall; D Callen
Journal:  Am J Hum Genet       Date:  1991-02       Impact factor: 11.025

Review 5.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

Review 6.  Toward an orofacial gene regulatory network.

Authors:  Youssef A Kousa; Brian C Schutte
Journal:  Dev Dyn       Date:  2015-09-17       Impact factor: 3.780

7.  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

8.  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

9.  Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion.

Authors:  Shuji Kayano; Shigeo Kure; Yoichi Suzuki; Kiyoshi Kanno; Yoko Aoki; Shinji Kondo; Brian C Schutte; Jeffrey C Murray; Atsushi Yamada; Yoichi Matsubara
Journal:  J Hum Genet       Date:  2003-11-15       Impact factor: 3.172

10.  Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.

Authors:  Shinji Kondo; Brian C Schutte; Rebecca J Richardson; Bryan C Bjork; Alexandra S Knight; Yoriko Watanabe; Emma Howard; Renata L L Ferreira de Lima; Sandra Daack-Hirsch; Achim Sander; Donna M McDonald-McGinn; Elaine H Zackai; Edward J Lammer; Arthur S Aylsworth; Holly H Ardinger; Andrew C Lidral; Barbara R Pober; Lina Moreno; Mauricio Arcos-Burgos; Consuelo Valencia; Claude Houdayer; Michel Bahuau; Danilo Moretti-Ferreira; Antonio Richieri-Costa; Michael J Dixon; Jeffrey C Murray
Journal:  Nat Genet       Date:  2002-09-03       Impact factor: 38.330

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.