Literature DB >> 7606850

Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1.

J C Marinoni1, R E Stevenson, J P Evans, D Geshuri, M C Phelan, C E Schwartz.   

Abstract

A deletion of 7q21.2-q22.1 has been found in a patient with split foot and developmental retardation. Molecular analysis using polymerase chain reaction (PCR) showed deletion of three microsatellite markers, D7S527, D7S479 and D7S554, in the patient's paternal chromosome. These results pinpoint the critical region for an ectrodactyly locus (SHFD1) on chromosome 7.

Entities:  

Mesh：

Substances：

Year:  1995        PMID： 7606850     DOI： 10.1111/j.1399-0004.1995.tb03930.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  13 in total

1.  Duplication of 10q24 locus: broadening the clinical and radiological spectrum.

Authors:  Muriel Holder-Espinasse; Aleksander Jamsheer; Fabienne Escande; Joris Andrieux; Florence Petit; Anna Sowinska-Seidler; Magdalena Socha; Anna Jakubiuk-Tomaszuk; Marion Gerard; Michèle Mathieu-Dramard; Valérie Cormier-Daire; Alain Verloes; Annick Toutain; Ghislaine Plessis; Philippe Jonveaux; Clarisse Baumann; Albert David; Chantal Farra; Estelle Colin; Sébastien Jacquemont; Annick Rossi; Sahar Mansour; Neeti Ghali; Anne Moncla; Nayana Lahiri; Jane Hurst; Elena Pollina; Christine Patch; Joo Wook Ahn; Anne-Sylvie Valat; Aurélie Mezel; Philippe Bourgeot; David Zhang; Sylvie Manouvrier-Hanu
Journal:  Eur J Hum Genet       Date:  2019-01-08       Impact factor: 4.246

2.  Deletion of a Long-Range Dlx5 Enhancer Disrupts Inner Ear Development in Mice.

Authors:  Kenneth R Johnson; Leona H Gagnon; Cong Tian; Chantal M Longo-Guess; Benjamin E Low; Michael V Wiles; Amy E Kiernan
Journal:  Genetics       Date:  2018-01-03       Impact factor: 4.562

3.  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

4.  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

5.  Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation.

Authors:  Hiroki Kano; Kenji Kurosawa; Emiko Horii; Shiro Ikegawa; Hideki Yoshikawa; Hiroki Kurahashi; Tatsushi Toda
Journal:  Hum Genet       Date:  2005-10-19       Impact factor: 4.132

6.  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

7.  Functional characterization of tissue-specific enhancers in the DLX5/6 locus.

Authors:  Ramon Y Birnbaum; David B Everman; Karl K Murphy; Fiorella Gurrieri; Charles E Schwartz; Nadav Ahituv
Journal:  Hum Mol Genet       Date:  2012-08-21       Impact factor: 6.150

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

9.  Genomic profiling of a human organotypic model of AEC syndrome reveals ZNF750 as an essential downstream target of mutant TP63.

Authors:  Brian J Zarnegar; Dan E Webster; Vanessa Lopez-Pajares; Brook Vander Stoep Hunt; Kun Qu; Karen J Yan; David R Berk; George L Sen; Paul A Khavari
Journal:  Am J Hum Genet       Date:  2012-08-23       Impact factor: 11.025

10.  Phenotypic subregions within the split-hand/foot malformation 1 locus.

Authors:  Malene B Rasmussen; Sven Kreiborg; Per Jensen; Mads Bak; Yuan Mang; Marianne Lodahl; Esben Budtz-Jørgensen; Niels Tommerup; Lisbeth Tranebjærg; Nanna D Rendtorff
Journal:  Hum Genet       Date:  2016-02-02       Impact factor: 4.132
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.