Literature DB >> 11183188

Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS).

D Wieczorek, M Krause, F Majewski, B Albrecht, P Meinecke, O Riess, G Gillessen-Kaesbach.   

Abstract

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Year:  2000        PMID： 11183188      PMCID： PMC1757157          DOI： 10.1136/jmg.37.10.798

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


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  11 in total

1.  Clinical utility gene card for: Wolf-Hirschhorn (4p-) syndrome.

Authors:  Agatino Battaglia; Sarah South; John C Carey
Journal:  Eur J Hum Genet       Date:  2010-12-08       Impact factor: 4.246

2.  Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man.

Authors:  N Simon Thomas; Miranda Durkie; Berendine Van Zyl; Richard Sanford; Gemma Potts; Sheila Youings; Nicholas Dennis; Patricia Jacobs
Journal:  Hum Genet       Date:  2006-02-22       Impact factor: 4.132

3.  Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements.

Authors:  S Giglio; K W Broman; N Matsumoto; V Calvari; G Gimelli; T Neumann; H Ohashi; L Voullaire; D Larizza; R Giorda; J L Weber; D H Ledbetter; O Zuffardi
Journal:  Am J Hum Genet       Date:  2001-02-26       Impact factor: 11.025

4.  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

5.  Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing.

Authors:  Clara Sm Tang; Xuehan Zhuang; Wai-Yee Lam; Elly Sau-Wai Ngan; Jacob Shujui Hsu; Y U Michelle; S O Man-Ting; Stacey S Cherny; Ngoc Diem Ngo; Pak C Sham; Paul Kh Tam; Maria-Mercè Garcia-Barcelo
Journal:  Eur J Hum Genet       Date:  2018-02-26       Impact factor: 4.246

6.  Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16.

Authors:  Marcella Zollino; Rosetta Lecce; Marina Murdolo; Daniela Orteschi; Giuseppe Marangi; Angelo Selicorni; Alina Midro; Giovanni Sorge; Giuseppe Zampino; Luigi Memo; Domenica Battaglia; Michael Petersen; Effie Pandelia; Yolanda Gyftodimou; Francesca Faravelli; Romano Tenconi; Livia Garavelli; Laura Mazzanti; Rita Fischetto; Pietro Cavalli; Salvatore Savasta; Laura Rodriguez; Giovanni Neri
Journal:  Hum Genet       Date:  2007-08-04       Impact factor: 4.132

7.  Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature.

Authors:  Stavros Sifakis; Emmanouil Manolakos; Annalisa Vetro; Dimitra Kappou; Panagiotis Peitsidis; Maria Kontodiou; Antonios Garas; Nikolaos Vrachnis; Anastasia Konstandinidou; Orsetta Zuffardi; Sandro Orru; Ioannis Papoulidis
Journal:  Mol Cytogenet       Date:  2012-02-28       Impact factor: 2.009

8.  Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation.

Authors:  Sabrina Giglio; Vladimiro Calvari; Giuliana Gregato; Giorgio Gimelli; Silvia Camanini; Roberto Giorda; Angela Ragusa; Silvana Guerneri; Angelo Selicorni; Marcus Stumm; Holger Tonnies; Mario Ventura; Marcella Zollino; Giovanni Neri; John Barber; Dagmar Wieczorek; Mariano Rocchi; Orsetta Zuffardi
Journal:  Am J Hum Genet       Date:  2002-06-10       Impact factor: 11.025

9.  Diagnosis of familial Wolf-Hirschhorn syndrome due to a paternal cryptic chromosomal rearrangement by conventional and molecular cytogenetic techniques.

Authors:  Carlos A Venegas-Vega; Fernando Fernández-Ramírez; Luis M Zepeda; Karem Nieto-Martínez; Laura Gómez-Laguna; Luz M Garduño-Zarazúa; Jaime Berumen; Susana Kofman; Alicia Cervantes
Journal:  Biomed Res Int       Date:  2013-02-03       Impact factor: 3.411

10.  Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports.

Authors:  F Sheth; O R Akinde; C Datar; O V Adeteye; J Sheth
Journal:  Case Rep Genet       Date:  2012-11-22
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