Literature DB >> 15121782

Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia.

I Wieland, P Muschke, S Jakubiczka, M Volleth, B Freigang, P F Wieacker.   

Abstract

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Year:  2004        PMID： 15121782      PMCID： PMC1735762          DOI： 10.1136/jmg.2003.010587

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


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  18 in total

1.  A Novel Heterozygous Intragenic Sequence Variant in DLX6 Probably Underlies First Case of Autosomal Dominant Split-Hand/Foot Malformation Type 1.

Authors:  Asmat Ullah; Anam Hammid; Muhammad Umair; Wasim Ahmad
Journal:  Mol Syndromol       Date:  2016-12-20

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.  Gestational vitamin A deficiency: a novel cause of sensorineural hearing loss in the developing world?

Authors:  Susan D Emmett; Keith P West
Journal:  Med Hypotheses       Date:  2013-09-25       Impact factor: 1.538

4.  Identification of direct downstream targets of Dlx5 during early inner ear development.

Authors:  Samin A Sajan; John L R Rubenstein; Mark E Warchol; Michael Lovett
Journal:  Hum Mol Genet       Date:  2011-01-12       Impact factor: 6.150

Review 5.  Retinoid signaling in inner ear development: A "Goldilocks" phenomenon.

Authors:  Dorothy A Frenz; Wei Liu; Ales Cvekl; Qing Xie; Lesley Wassef; Loredana Quadro; Karen Niederreither; Mark Maconochie; Alan Shanske
Journal:  Am J Med Genet A       Date:  2010-12       Impact factor: 2.802

6.  Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies?

Authors:  P Fontana; D Melis; A D'Amico; G Cappuccio; G Auletta; P Vassallo; R Genesio; L Nitsch; W Buffolano
Journal:  J Pediatr Genet       Date:  2017-03-07

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.  Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35).

Authors:  Kerry K Brown; Jacob A Reiss; Kate Crow; Heather L Ferguson; Chantal Kelly; Bernd Fritzsch; Cynthia C Morton
Journal:  Hum Genet       Date:  2010-01       Impact factor: 4.132

9.  Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.

Authors:  Anneke T van Silfhout; Peter C van den Akker; Trijnie Dijkhuizen; Joke B G M Verheij; Maran J W Olderode-Berends; Klaas Kok; Birgit Sikkema-Raddatz; Conny M A van Ravenswaaij-Arts
Journal:  Eur J Hum Genet       Date:  2009-04-29       Impact factor: 4.246

10.  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
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