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36 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. Weaver syndrome.

Authors: T R Cole; N R Dennis; H E Hughes
Journal: J Med Genet Date: 1992-05 Impact factor: 6.318

3. 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

4. Autosomal dominant inheritance of Weaver syndrome.

Authors: A Fryer; C Smith; L Rosenbloom; T Cole
Journal: J Med Genet Date: 1997-05 Impact factor: 6.318

Review 5. Genetic syndromes caused by mutations in epigenetic genes.

Authors: María Berdasco; Manel Esteller
Journal: Hum Genet Date: 2013-01-31 Impact factor: 4.132

6. Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome.

Authors: Steven Klein; Hane Lee; Shahnaz Ghahremani; Pamela Kempert; Mariam Ischander; Michael A Teitell; Stanley F Nelson; Julian A Martinez-Agosto
Journal: J Med Genet Date: 2014-03-27 Impact factor: 6.318

A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly.

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.

2. Weaver syndrome.

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

4. Autosomal dominant inheritance of Weaver syndrome.

Review 5. Genetic syndromes caused by mutations in epigenetic genes.

6. Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome.

7. Congenital craniofacial dysostosis and cutis gyratum: the Beare-Stevenson syndrome.

Review 8. Genetic considerations in the prenatal diagnosis of overgrowth syndromes.

9. The syndromes of Marshall and Weaver.

10. The Weaver syndrome in a girl.