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Literature DB >> 1865473

Coffin-Siris syndrome.

P Levy¹, M Baraitser.

Abstract

Entities: Disease

Mesh：

Year: 1991 PMID： 1865473 PMCID： PMC1016855 DOI： 10.1136/jmg.28.5.338

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

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17 in total

1. [The Coffin-Siris syndrome. A new syndrome of mental retardation, hypo-aplasia of the nails and terminal phalanges of the 5th fingers and toes].

Authors: P Mastroiacovo; E Salvaggio; D Parenti
Journal: Minerva Pediatr Date: 1977-03-31 Impact factor: 1.312

2. The Coffin-Siris syndrome in two siblings.

Authors: P Franceschini; M Cirillo Silengo; R Bianco; M Biagioli; A Guala; G Lopez Bell
Journal: Pediatr Radiol Date: 1986

3. Coffin-Siris syndrome. Two new cases.

Authors: W H Weiswasser; B D Hall; G W Delavan; D W Smith
Journal: Am J Dis Child Date: 1973-06

4. Mental retardation with absent fifth fingernail and terminal phalanx.

Authors: G S Coffin; E Siris
Journal: Am J Dis Child Date: 1970-05

5. [Coffin-Siris syndrome. Critical study of the literature apropos of a case].

Authors: M F Foasso; M Hermier; B Descos; J P Collet; F Perron
Journal: Pediatrie Date: 1983-03

6. The Coffin-Siris syndrome: report of a family and further delineation.

Authors: M Haspeslagh; J P Fryns; H van den Berghe
Journal: Clin Genet Date: 1984-10 Impact factor: 4.438

7. [The Coffin-Siris syndrome. Case report].

Authors: M L Giovannucci Uzielli; S Seminara; P A Nicòtina; I Consumi; C La Cauza
Journal: Minerva Pediatr Date: 1980-02-28 Impact factor: 1.312

8. The Coffin-Siris syndrome.

Authors: Q H Qazi; L S Heckman; D Markouizos; R S Verma
Journal: J Med Genet Date: 1990-05 Impact factor: 6.318

9. Coffin-Siris syndrome. Neuropathologic findings.

Authors: W A DeBassio; T L Kemper; J E Knoefel
Journal: Arch Neurol Date: 1985-04

Review 10. The Coffin-Siris syndrome. A report of four cases and review of the literature.

Authors: J Lucaya; J A Garcia-Conesa; J M Bosch-Banyeras; G Pons-Peradejordi
Journal: Pediatr Radiol Date: 1981

8 in total

1. Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

Authors: Gijs W E Santen; Emmelien Aten; Yu Sun; Rowida Almomani; Christian Gilissen; Maartje Nielsen; Sarina G Kant; Irina N Snoeck; Els A J Peeters; Yvonne Hilhorst-Hofstee; Marja W Wessels; Nicolette S den Hollander; Claudia A L Ruivenkamp; Gert-Jan B van Ommen; Martijn H Breuning; Johan T den Dunnen; Arie van Haeringen; Marjolein Kriek
Journal: Nat Genet Date: 2012-03-18 Impact factor: 38.330

Review 2. Molecular signature of pancreatic adenocarcinoma: an insight from genotype to phenotype and challenges for targeted therapy.

Authors: Ibrahim H Sahin; Christine A Iacobuzio-Donahue; Eileen M O'Reilly
Journal: Expert Opin Ther Targets Date: 2015-10-06 Impact factor: 6.902

3. De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.

Authors: Yongguo Yu; RuEn Yao; Lili Wang; Yanjie Fan; Xiaodong Huang; Joel Hirschhorn; Andrew Dauber; Yiping Shen
Journal: BMC Genomics Date: 2015-09-16 Impact factor: 3.969

4. Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature.

Authors: Lalita Nemani; Ramachandra Barik; Amar Narayana Patnaik; Ramesh C Mishra; Amaresh M Rao; Pragati Kapur
Journal: Ann Pediatr Cardiol Date: 2014-09