Literature DB >> 11424924

Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3.

E Haberlandt, J Löffler, A Hirst-Stadlmann, B Stöckl, W Judmaier, H Fischer, P Heinz-Erian, T Müller, G Utermann, R J Smith, A R Janecke.   

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Year:  2001        PMID： 11424924      PMCID： PMC1734906          DOI： 10.1136/jmg.38.6.405

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


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  13 in total

1.  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

2.  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 3.  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

4.  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

5.  Role of p63 and the Notch pathway in cochlea development and sensorineural deafness.

Authors:  Alessandro Terrinoni; Valeria Serra; Ernesto Bruno; Andreas Strasser; Elizabeth Valente; Elsa R Flores; Hans van Bokhoven; Xin Lu; Richard A Knight; Gerry Melino
Journal:  Proc Natl Acad Sci U S A       Date:  2013-04-15       Impact factor: 11.205

Review 6.  A symphony of inner ear developmental control genes.

Authors:  Sumantra Chatterjee; Petra Kraus; Thomas Lufkin
Journal:  BMC Genet       Date:  2010-07-16       Impact factor: 2.797

7.  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

8.  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

9.  Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene.

Authors:  C Bonnet; M-J Grégoire; M Vibert; E Raffo; B Leheup; P Jonveaux
Journal:  J Hum Genet       Date:  2008-07-24       Impact factor: 3.172

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
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