Literature DB >> 15342700

Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map.

G Van Buggenhout, C Melotte, B Dutta, G Froyen, P Van Hummelen, P Marynen, G Matthijs, T de Ravel, K Devriendt, J P Fryns, J R Vermeesch.   

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Year:  2004        PMID： 15342700      PMCID： PMC1735886          DOI： 10.1136/jmg.2003.016865

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


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  35 in total

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Review 2.  Chromosome analysis: what and when to request.

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3.  Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm.

Authors:  Danielle A Callaway; Ian M Campbell; Samantha R Stover; Andres Hernandez-Garcia; Shalini N Jhangiani; Jaya Punetha; Ingrid S Paine; Jennifer E Posey; Donna Muzny; Kevin P Lally; James R Lupski; Chad A Shaw; Caraciolo J Fernandes; Daryl A Scott
Journal:  J Pediatr Genet       Date:  2018-05-30

Review 4.  Application of array-based comparative genomic hybridization to clinical diagnostics.

Authors:  Bassem A Bejjani; Lisa G Shaffer
Journal:  J Mol Diagn       Date:  2006-11       Impact factor: 5.568

5.  Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm.

Authors:  Nelson LopezJimenez; Simon Gerber; Vlad Popovici; Sonia Mirza; Kirsten Copren; Linda Ta; Gary M Shaw; Beat Trueb; Anne M Slavotinek
Journal:  Hum Genet       Date:  2009-12-19       Impact factor: 4.132

6.  Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome.

Authors:  Peter Hammond; Femke Hannes; Michael Suttie; Koen Devriendt; Joris Robert Vermeesch; Francesca Faravelli; Francesca Forzano; Susan Parekh; Steve Williams; Dominic McMullan; Sarah T South; John C Carey; Oliver Quarrell
Journal:  Eur J Hum Genet       Date:  2011-07-27       Impact factor: 4.246

7.  Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome.

Authors:  Erica F Andersen; John C Carey; Dawn L Earl; Deyanira Corzo; Michael Suttie; Peter Hammond; Sarah T South
Journal:  Eur J Hum Genet       Date:  2013-08-21       Impact factor: 4.246

8.  Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome.

Authors:  Daniela Concolino; Elena Rossi; Pietro Strisciuglio; Maria Antonietta Iembo; Roberto Giorda; Roberto Ciccone; Romano Tenconi; Orsetta Zuffardi
Journal:  J Med Genet       Date:  2007-10       Impact factor: 6.318

9.  Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16.

Authors:  Irina Balikova; Kevin Martens; Cindy Melotte; Mustapha Amyere; Steven Van Vooren; Yves Moreau; David Vetrie; Heike Fiegler; Nigel P Carter; Thomas Liehr; Miikka Vikkula; Gert Matthijs; Jean-Pierre Fryns; Ingele Casteels; Koen Devriendt; Joris Robert Vermeesch
Journal:  Am J Hum Genet       Date:  2008-01       Impact factor: 11.025

10.  An experimental loop design for the detection of constitutional chromosomal aberrations by array CGH.

Authors:  Joke Allemeersch; Steven Van Vooren; Femke Hannes; Bart De Moor; Joris Robert Vermeesch; Yves Moreau
Journal:  BMC Bioinformatics       Date:  2009-11-19       Impact factor: 3.169
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