Literature DB >> 6680429

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

G Del Porto, E D'Alessandro, C De Matteis, M L Lo Re, M Ivaldi, C Di Fusco.   

Abstract

Mesh：

Year:  1983        PMID： 6680429

Source DB:  PubMed          Journal:  Pathologica        ISSN： 0031-2983


× No keyword cloud information.
  10 in total

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

Authors:  S H Roberts; H E Hughes; S J Davies; A L Meredith
Journal:  J Med Genet       Date:  1991-07       Impact factor: 6.318

2.  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

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

Review 4.  Cleft hand/foot: clinical and developmental aspects.

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

5.  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

6.  The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3.

Authors:  A Slavotinek; E Maher; P Gregory; P Rowlandson; S M Huson
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318

7.  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

8.  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 9.  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

Review 10.  A symphony of regulations centered on p63 to control development of ectoderm-derived structures.

Authors:  Luisa Guerrini; Antonio Costanzo; Giorgio R Merlo
Journal:  J Biomed Biotechnol       Date:  2011-05-22
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.