Literature DB >> 27365829

Sotos syndrome.

R G Holla1, A N Prasad2.   

Abstract

Entities:  

Year:  2011        PMID： 27365829      PMCID： PMC4920820          DOI： 10.1016/S0377-1237(11)60067-1

Source DB:  PubMed          Journal:  Med J Armed Forces India        ISSN： 0377-1237


× No keyword cloud information.
  10 in total

1.  CEREBRAL GIGANTISM IN CHILDHOOD. A SYNDROME OF EXCESSIVELY RAPID GROWTH AND ACROMEGALIC FEATURES AND A NONPROGRESSIVE NEUROLOGIC DISORDER.

Authors:  J F SOTOS; P R DODGE; D MUIRHEAD; J D CRAWFORD; N B TALBOT
Journal:  N Engl J Med       Date:  1964-07-16       Impact factor: 91.245

2.  Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene.

Authors:  V Malan; M C De Blois; M Prieur; M C Perrier-Waill; C Huguet-Nedjar; L Gegas; C Turleau; M Vekemans; A Munnich; S P Romana
Journal:  Clin Genet       Date:  2007-11-27       Impact factor: 4.438

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

4.  Sotos syndrome: a study of the diagnostic criteria and natural history.

Authors:  T R Cole; H E Hughes
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

5.  Psychosocial, cognitive, and motor functioning in patients with suspected Sotos syndrome: a comparison between patients with and without NSD1 gene alterations.

Authors:  L de Boer; I Röder; J M Wit
Journal:  Dev Med Child Neurol       Date:  2006-07       Impact factor: 5.449

Review 6.  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

7.  Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.

Authors:  Geneviève Baujat; Marlène Rio; Sylvie Rossignol; Damien Sanlaville; Stanislas Lyonnet; Martine Le Merrer; Arnold Munnich; Christine Gicquel; Valérie Cormier-Daire; Laurence Colleaux
Journal:  Am J Hum Genet       Date:  2004-03-01       Impact factor: 11.025

8.  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

9.  Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

Authors:  M Cecconi; F Forzano; D Milani; S Cavani; C Baldo; A Selicorni; C Pantaleoni; M Silengo; G B Ferrero; G Scarano; M Della Monica; R Fischetto; P Grammatico; S Majore; G Zampino; L Memo; E Lucci Cordisco; G Neri; M Pierluigi; F Dagna Bricarelli; M Grasso; Francesca Faravelli
Journal:  Am J Med Genet A       Date:  2005-04-30       Impact factor: 2.802

10.  NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.

Authors:  Darrel J Waggoner; Gordana Raca; Katherine Welch; Melissa Dempsey; Ethan Anderes; Irina Ostrovnaya; Asem Alkhateeb; Junichi Kamimura; Naomichi Matsumoto; G Bradley Schaeffer; Christa Lese Martin; Soma Das
Journal:  Genet Med       Date:  2005-10       Impact factor: 8.822
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.