Literature DB >> 1895319

Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3.

S H Roberts1, H E Hughes, S J Davies, A L Meredith.   

Abstract

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Mesh：

Year:  1991        PMID： 1895319      PMCID： PMC1016960          DOI： 10.1136/jmg.28.7.479

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


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  3 in total

1.  Ectro-amelia syndrome associated with an interstitial deletion of 7q.

Authors:  M A Morey; R R Higgins
Journal:  Am J Med Genet       Date:  1990-01

2.  Interstitial long-arm deletion of chromosome 7 and ectrodactyly.

Authors:  E H Tajara; M Varella-Garcia; A C Gusson
Journal:  Am J Med Genet       Date:  1989-02

3.  [Interstitial deletion of the long arm of chromosome 7 and its clinical correlations].

Authors:  G Del Porto; E D'Alessandro; C De Matteis; M L Lo Re; M Ivaldi; C Di Fusco
Journal:  Pathologica       Date:  1983
  3 in total
  15 in total

1.  Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype.

Authors:  V S Vervoort; D Viljoen; R Smart; G Suthers; B R DuPont; A Abbott; C E Schwartz
Journal:  J Med Genet       Date:  2002-12       Impact factor: 6.318

2.  Split Hand/Foot Malformation Associated with 7q21.3 Microdeletion: A Case Report.

Authors:  Aswini Sivasankaran; Ambika Srikanth; Pooja S Kulshreshtha; Deenadayalu Anuradha; Jayarama S Kadandale; Chandra R Samuel
Journal:  Mol Syndromol       Date:  2016-02-03

3.  Bilateral split hand/foot malformation and inv(7)(p22q21.3).

Authors:  J M Cobben; J B Verheij; W H Eisma; P H Robinson; R P Zwierstra; B Leegte; S Castedo
Journal:  J Med Genet       Date:  1995-05       Impact factor: 6.318

4.  Mapping of the gene for X-chromosomal split-hand/split-foot anomaly to Xq26-q26.1.

Authors:  M Faiyaz ul Haque; S Uhlhaas; M Knapp; H Schüler; W Friedl; M Ahmad; P Propping
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

5.  Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes.

Authors:  D Lacombe; F Serville; D Marchand; J Battin
Journal:  J Med Genet       Date:  1993-08       Impact factor: 6.318

Review 6.  Cleft hand/foot: clinical and developmental aspects.

Authors:  P W Buss
Journal:  J Med Genet       Date:  1994-09       Impact factor: 6.318

7.  Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation.

Authors:  S E Palmer; S W Scherer; M Kukolich; E M Wijsman; L C Tsui; K Stephens; J P Evans
Journal:  Am J Hum Genet       Date:  1994-07       Impact factor: 11.025

8.  Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.

Authors:  Evelyn N Kouwenhoven; Simon J van Heeringen; Juan J Tena; Martin Oti; Bas E Dutilh; M Eva Alonso; Elisa de la Calle-Mustienes; Leonie Smeenk; Tuula Rinne; Lilian Parsaulian; Emine Bolat; Rasa Jurgelenaite; Martijn A Huynen; Alexander Hoischen; Joris A Veltman; Han G Brunner; Tony Roscioli; Emily Oates; Meredith Wilson; Miguel Manzanares; José Luis Gómez-Skarmeta; Hendrik G Stunnenberg; Marion Lohrum; Hans van Bokhoven; Huiqing Zhou
Journal:  PLoS Genet       Date:  2010-08-19       Impact factor: 5.917

9.  Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3.

Authors:  J Ignatius; S Knuutila; S W Scherer; B Trask; J Kere
Journal:  J Med Genet       Date:  1996-06       Impact factor: 6.318

Review 10.  Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1.

Authors:  S W Scherer; P Poorkaj; T Allen; J Kim; D Geshuri; M Nunes; S Soder; K Stephens; R A Pagon; M A Patton
Journal:  Am J Hum Genet       Date:  1994-07       Impact factor: 11.025
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