Literature DB >> 10205282

Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism.

A Kara-Mostefa, O Raoul, S Lyonnet, J Amiel, A Munnich, M Vekemans, S Magnier, B Ossareh, J P Bonnefont.   

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Year:  1999        PMID： 10205282      PMCID： PMC1377887          DOI： 10.1086/302362

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  10 in total

1.  A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

Authors:  L R Osborne; M Li; B Pober; D Chitayat; J Bodurtha; A Mandel; T Costa; T Grebe; S Cox; L C Tsui; S W Scherer
Journal:  Nat Genet       Date:  2001-11       Impact factor: 38.330

2.  Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion.

Authors:  Ivon Cuscó; Roser Corominas; Mònica Bayés; Raquel Flores; Núria Rivera-Brugués; Victoria Campuzano; Luis A Pérez-Jurado
Journal:  Genome Res       Date:  2008-02-21       Impact factor: 9.043

3.  Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children.

Authors:  Stephen W Scherer; Karen W Gripp; Jaume Lucena; Linda Nicholson; Jean-Paul Bonnefont; Luis A Pérez-Jurado; Lucy R Osborne
Journal:  Hum Genet       Date:  2005-06-03       Impact factor: 4.132

4.  Mutational mechanisms of Williams-Beuren syndrome deletions.

Authors:  Mònica Bayés; Luis F Magano; Núria Rivera; Raquel Flores; Luis A Pérez Jurado
Journal:  Am J Hum Genet       Date:  2003-06-09       Impact factor: 11.025

5.  Three Offspring with Cri-du-Chat Syndrome from Phenotypically Normal Parents.

Authors:  Dilek U Alkaya; Birsen Karaman; Beyhan Tüysüz
Journal:  Mol Syndromol       Date:  2020-04-02

6.  Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies.

Authors:  Thierry Brue; Marie-Hélène Quentien; Konstantin Khetchoumian; Marco Bensa; José-Mario Capo-Chichi; Brigitte Delemer; Aurelio Balsalobre; Christina Nassif; Dimitris T Papadimitriou; Anne Pagnier; Caroline Hasselmann; Lysanne Patry; Jeremy Schwartzentruber; Pierre-François Souchon; Shinobu Takayasu; Alain Enjalbert; Guy Van Vliet; Jacek Majewski; Jacques Drouin; Mark E Samuels
Journal:  BMC Med Genet       Date:  2014-12-19       Impact factor: 2.103

7.  Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers.

Authors:  Laia Vergés; Oscar Molina; Esther Geán; Francesca Vidal; Joan Blanco
Journal:  Mol Cytogenet       Date:  2014-11-25       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.  Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia.

Authors:  John A Crolla; Veronica van Heyningen
Journal:  Am J Hum Genet       Date:  2002-10-17       Impact factor: 11.025

Review 10.  Williams syndrome.

Authors:  Beth A Kozel; Boaz Barak; Chong Ae Kim; Carolyn B Mervis; Lucy R Osborne; Melanie Porter; Barbara R Pober
Journal:  Nat Rev Dis Primers       Date:  2021-06-17       Impact factor: 65.038
  10 in total

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