Literature DB >> 21677396

Deletion of NSD1 exon 14 in Sotos syndrome: first description.

Maria Piccione1, Valeria Consiglio, Antonella Di Fiore, Marina Grasso, Massimiliano Cecconi, Lucia Perroni, Giovanni Corsello.   

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Year:  2011        PMID： 21677396     DOI： 10.1007/s12041-011-0017-6

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  17 in total

1.  NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.

Authors:  Jenny Douglas; Sandra Hanks; I Karen Temple; Sally Davies; Alexandra Murray; Meena Upadhyaya; Susan Tomkins; Helen E Hughes; Trevor R P Cole; Nazneen Rahman
Journal:  Am J Hum Genet       Date:  2002-12-02       Impact factor: 11.025

2.  Sotos syndrome.

Authors:  T R Cole; H E Hughes
Journal:  J Med Genet       Date:  1990-09       Impact factor: 6.318

3.  Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.

Authors:  Pascale Saugier-Veber; Céline Bonnet; Alexandra Afenjar; Valérie Drouin-Garraud; Christine Coubes; Séverine Fehrenbach; Muriel Holder-Espinasse; Joëlle Roume; Valérie Malan; Marie-France Portnoi; Nicolas Jeanne; Clarisse Baumann; Delphine Héron; Albert David; Marion Gérard; Dominique Bonneau; Didier Lacombe; Valérie Cormier-Daire; Thierry Billette de Villemeur; Thierry Frébourg; Lydie Bürglen
Journal:  Hum Mutat       Date:  2007-11       Impact factor: 4.878

Review 4.  NSD1 mutations in Sotos syndrome.

Authors:  Francesca Faravelli
Journal:  Am J Med Genet C Semin Med Genet       Date:  2005-08-15       Impact factor: 3.908

5.  Haploinsufficiency of NSD1 causes Sotos syndrome.

Authors:  Naohiro Kurotaki; Kiyoshi Imaizumi; Naoki Harada; Mitsuo Masuno; Tatsuro Kondoh; Toshiro Nagai; Hirofumi Ohashi; Kenji Naritomi; Masato Tsukahara; Yoshio Makita; Tateo Sugimoto; Tohru Sonoda; Tomoko Hasegawa; Yasuaki Chinen; Hiro-aki Tomita Ha; Akira Kinoshita; Tsuyoshi Mizuguchi; Koh-ichiro Yoshiura Ki; Tohru Ohta; Tatsuya Kishino; Yoshimitsu Fukushima; Norio Niikawa; Naomichi Matsumoto
Journal:  Nat Genet       Date:  2002-03-18       Impact factor: 38.330

6.  MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported.

Authors:  Claudia Fagali; Fernando Kok; Pablo Nicola; Chong Kim; Débora Bertola; Lílian Albano; Célia P Koiffmann
Journal:  Eur J Med Genet       Date:  2009-07-09       Impact factor: 2.708

Review 7.  A clinical study of Sotos syndrome patients with review of the literature.

Authors:  George Leventopoulos; Sophia Kitsiou-Tzeli; Konstantinos Kritikos; Stavroula Psoni; Ariadni Mavrou; Emmanuel Kanavakis; Helen Fryssira
Journal:  Pediatr Neurol       Date:  2009-05       Impact factor: 3.372

8.  NSD1 is essential for early post-implantation development and has a catalytically active SET domain.

Authors:  Geetha Vani Rayasam; Olivia Wendling; Pierre-Olivier Angrand; Manuel Mark; Karen Niederreither; Luyan Song; Thierry Lerouge; Gordon L Hager; Pierre Chambon; Régine Losson
Journal:  EMBO J       Date:  2003-06-16       Impact factor: 11.598

9.  Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.

Authors:  Katrina Tatton-Brown; Jenny Douglas; Kim Coleman; Genevieve Baujat; Trevor R P Cole; Soma Das; Denise Horn; Helen E Hughes; I Karen Temple; Francesca Faravelli; Darrel Waggoner; Seval Turkmen; Valerie Cormier-Daire; Alexandre Irrthum; Nazneen Rahman
Journal:  Am J Hum Genet       Date:  2005-06-07       Impact factor: 11.025

10.  Sotos syndrome.

Authors:  Katrina Tatton-Brown; Nazneen Rahman
Journal:  Eur J Hum Genet       Date:  2006-09-13       Impact factor: 4.246
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  1 in total

1.  Clinical and molecular heterogeneity in brazilian patients with sotos syndrome.

Authors:  Gustavo H Vieira; Melissa M Cook; Renata L Ferreira De Lima; Carlos E Frigério Domingues; Daniel R de Carvalho; Isaias Soares de Paiva; Danilo Moretti-Ferreira; Anand K Srivastava
Journal:  Mol Syndromol       Date:  2015-01-21
  1 in total

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