Literature DB >> 21150881

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

Agatino Battaglia1, Sarah South, John C Carey.   

Abstract

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Year:  2010        PMID： 21150881      PMCID： PMC3060313          DOI： 10.1038/ejhg.2010.186

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  17 in total

1.  Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion.

Authors:  D Wieczorek; M Krause; F Majewski; B Albrecht; D Horn; O Riess; G Gillessen-Kaesbach
Journal:  Eur J Hum Genet       Date:  2000-07       Impact factor: 4.246

2.  Wolf-Hirschhorn syndrome (WHS): a history in pictures.

Authors:  A Battaglia; J C Carey; D H Viskochil; P Cederholm; J M Opitz
Journal:  Clin Dysmorphol       Date:  2000-01       Impact factor: 0.816

3.  A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region.

Authors:  T J Wright; D O Ricke; K Denison; S Abmayr; P D Cotter; K Hirschhorn; M Keinänen; D McDonald-McGinn; M Somer; N Spinner; T Yang-Feng; E Zackai; M R Altherr
Journal:  Hum Mol Genet       Date:  1997-02       Impact factor: 6.150

Review 4.  Wolf-Hirschhorn (4p-) syndrome.

Authors:  A Battaglia; J C Carey; T J Wright
Journal:  Adv Pediatr       Date:  2001

5.  Natural history of Wolf-Hirschhorn syndrome: experience with 15 cases.

Authors:  A Battaglia; J C Carey; P Cederholm; D H Viskochil; A R Brothman; C Galasso
Journal:  Pediatrics       Date:  1999-04       Impact factor: 7.124

Review 6.  Seizure and EEG patterns in Wolf-Hirschhorn (4p-) syndrome.

Authors:  Agatino Battaglia; John C Carey
Journal:  Brain Dev       Date:  2005-04-22       Impact factor: 1.961

7.  Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.

Authors:  Marcella Zollino; Rosetta Lecce; Rita Fischetto; Marina Murdolo; Francesca Faravelli; Angelo Selicorni; Cinzia Buttè; Luigi Memo; Giuseppe Capovilla; Giovanni Neri
Journal:  Am J Hum Genet       Date:  2003-01-30       Impact factor: 11.025

8.  Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: implications for critical region designation.

Authors:  Sarah T South; Steven B Bleyl; John C Carey
Journal:  Am J Med Genet A       Date:  2007-09-15       Impact factor: 2.802

9.  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

10.  A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome.

Authors:  Marcella Zollino; Rosetta Lecce; Angelo Selicorni; Marina Murdolo; Irene Mancuso; Giuseppe Marangi; Giuseppe Zampino; Livia Garavelli; Alessandra Ferrarini; Mariano Rocchi; John M Opitz; Giovanni Neri
Journal:  Eur J Hum Genet       Date:  2004-10       Impact factor: 4.246
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  1 in total

1.  Wolf-Hirschhorn Syndrome Candidate 1 Is Necessary for Correct Hematopoietic and B Cell Development.

Authors:  Elena Campos-Sanchez; Nerea Deleyto-Seldas; Veronica Dominguez; Enrique Carrillo-de-Santa-Pau; Kiyoe Ura; Pedro P Rocha; JungHyun Kim; Arafat Aljoufi; Anna Esteve-Codina; Marc Dabad; Marta Gut; Holger Heyn; Yasufumi Kaneda; Keisuke Nimura; Jane A Skok; Maria Luisa Martinez-Frias; Cesar Cobaleda
Journal:  Cell Rep       Date:  2017-05-23       Impact factor: 9.423
  1 in total

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