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Literature DB >> 2231650

Sotos syndrome.

T R Cole¹, H E Hughes.

Abstract

Entities: Disease

Mesh：

Year: 1990 PMID： 2231650 PMCID： PMC1017220 DOI： 10.1136/jmg.27.9.571

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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41 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. [Cerebral gigantism. Description of a case].

Authors: E Bonvini; G Valente
Journal: Minerva Pediatr Date: 1976-08-18 Impact factor: 1.312

3. Cerebral gigantism.

Authors: D N Ginter; C I Scott
Journal: Birth Defects Orig Artic Ser Date: 1975

4. Cerebral gigantism: concentrations of amino acids in plasma and muscle.

Authors: R L Bejar; G F Smith; S Park; W N Spellacy; S L Wolfson; W L Nyhan
Journal: J Pediatr Date: 1970-01 Impact factor: 4.406

5. Radiographic findings in hypothalamic acceleration of growth associated with cerebral atrophy and mental retardation (cerebral gigantism).

Authors: A K Poznanski; J M Stephenson
Journal: Radiology Date: 1967-03 Impact factor: 11.105

6. Evidence for autosomal recessive inheritance in cerebral gigantism.

Authors: S Nevo; M Zeltzer; A Benderly; J Levy
Journal: J Med Genet Date: 1974-06 Impact factor: 6.318

7. Cerebral gigantism in childhood. A report of two cases and a review of the literature.

Authors: A Milunsky; V A Cowie; E C Donoghue
Journal: Pediatrics Date: 1967-09 Impact factor: 7.124

8. Sotos' syndrome of cerebral gigantism.

Authors: J M Abraham; G J Snodgrass
Journal: Arch Dis Child Date: 1969-04 Impact factor: 3.791

9. Cerebral gigantism. Triad of findings helpful in diagnosis.

Authors: J W Mace; R W Gotlin
Journal: Clin Pediatr (Phila) Date: 1970-11 Impact factor: 1.168

10. Familial occurrence of cerebral gigantism, Sotos' syndrome.

Authors: F J Hansen; B Friis
Journal: Acta Paediatr Scand Date: 1976-05

15 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, failure to thrive and parotitis.

Authors: Megan R Thomas
Journal: BMJ Case Rep Date: 2011-03-01

3. Diagnosing Friedreich's ataxia.

Authors: N W Wood
Journal: Arch Dis Child Date: 1998-03 Impact factor: 3.791

4. Growing interest in overgrowth.

Authors: T Cole
Journal: Arch Dis Child Date: 1998-03 Impact factor: 3.791

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

Authors: Maria Piccione; Valeria Consiglio; Antonella Di Fiore; Marina Grasso; Massimiliano Cecconi; Lucia Perroni; Giovanni Corsello
Journal: J Genet Date: 2011-04 Impact factor: 1.166

6. 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

7. Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.

Authors: Katheryn Grand; Christina Gonzalez-Gandolfi; Amanda M Ackermann; Deema Aljeaid; Emma Bedoukian; Lynne M Bird; Diva D De Leon; Jullianne Diaz; Robert J Hopkin; Sejal P Kadakia; Beth Keena; Karen O Klein; Ian Krantz; Eyby Leon; Katherine Lord; Carey McDougall; Livija Medne; Cara M Skraban; Charles A Stanley; Jennifer Tarpinian; Elaine Zackai; Matthew A Deardorff; Jennifer M Kalish
Journal: Am J Med Genet A Date: 2019-02-04 Impact factor: 2.802