Literature DB >> 21677402

Novel missense mutation (L1917P) involving sac-domain of NSD1 gene in a patient with Sotos syndrome.

Francesco Nicita1, Luigi Tarani, Alberto Spalice, Marina Grasso, Laura Papetti, Massimiliano Cecconi, Claudio Di Biasi, Fabiana Ursitti, Paola Iannetti.   

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Year:  2011        PMID： 21677402     DOI： 10.1007/s12041-011-0032-7

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


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  19 in total

1.  Neuroimaging and echocardiographic findings in Sotos syndrome.

Authors:  D Gusmão Melo; J M Pina-Neto; A X Acosta; J Daniel; V de Castro; A C Santos
Journal:  Am J Med Genet       Date:  2000-02-28

2.  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

3.  Neuroradiologic findings in Sotos syndrome.

Authors:  Hiroko Horikoshi; Zenichiro Kato; Mitsuo Masuno; Takahiko Asano; Tomoko Nagase; Yuka Yamagishi; Ryo Kozawa; Takahiro Arai; Minako Aoki; Takahide Teramoto; Kentaro Omoya; Naomichi Matsumoto; Naohiro Kurotaki; Osamu Shimokawa; Kenji Kurosawa; Naomi Kondo
Journal:  J Child Neurol       Date:  2006-07       Impact factor: 1.987

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

Review 5.  Virchow-Robin spaces on magnetic resonance images: normative data, their dilatation, and a review of the literature.

Authors:  Samuel Groeschel; Wui Khean Chong; Robert Surtees; Folker Hanefeld
Journal:  Neuroradiology       Date:  2006-08-05       Impact factor: 2.804

6.  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

7.  Sotos syndrome (cerebral gigantism): analysis of 8 cases.

Authors:  Débora Gusmão Melo; Angelina Xavier Acosta; Maria Aparecida de Almeida Salles; João Monteiro de Pina-Neto; José Daniel Vieira de Castro; Antonio Carlos Santos
Journal:  Arq Neuropsiquiatr       Date:  2002-06       Impact factor: 1.420

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.  Sotos syndrome.

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

Review 10.  Sotos syndrome.

Authors:  Geneviève Baujat; Valérie Cormier-Daire
Journal:  Orphanet J Rare Dis       Date:  2007-09-07       Impact factor: 4.123
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  1 in total

1.  Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort.

Authors:  Kyungsoo Ha; Priya Anand; Jennifer A Lee; Julie R Jones; Chong Ae Kim; Debora Romeo Bertola; Jonathan D J Labonne; Lawrence C Layman; Wolfgang Wenzel; Hyung-Goo Kim
Journal:  Genes (Basel)       Date:  2016-11-09       Impact factor: 4.096
  1 in total

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