Literature DB >> 3290491

The Coffin-Lowry syndrome.

I D Young1.   

Abstract

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Mesh：

Year:  1988        PMID： 3290491      PMCID： PMC1050463          DOI： 10.1136/jmg.25.5.344

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


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  15 in total

1.  The syndrome of Coffin, Siris and Wegienka: report of a case.

Authors:  P E Sylvester; A T Rundle; B W Richards
Journal:  J Ment Defic Res       Date:  1976-03

2.  The Coffin-Lowry syndrome: a facio digital mental retardation syndrome: a case report.

Authors:  R H Merchant
Journal:  Indian Pediatr       Date:  1976-03       Impact factor: 1.411

3.  The Coffin-Lowry syndrome: an inherited faciodigital mental retardation syndrome.

Authors:  S A Temtamy; J D Miller; I Hussels-Maumenee
Journal:  J Pediatr       Date:  1975-05       Impact factor: 4.406

4.  Coffin-Lowry syndrome and schizophrenia: a family report.

Authors:  R A Collacott; J S Warrington; I D Young
Journal:  J Ment Defic Res       Date:  1987-06

5.  Mental retardation, abnormal fingers, and skeletal anomalies: Coffin's syndrome.

Authors:  P G Procopis; B Turner
Journal:  Am J Dis Child       Date:  1972-08

6.  [The coffin, Siris, Wegienka syndrome].

Authors:  B Martinelli; E Campailla
Journal:  G Psichiatr Neuropatol       Date:  1969

7.  The Coffin syndrome.

Authors:  J P Fryns; L Vinken; H Van den Berghe
Journal:  Hum Genet       Date:  1977-05-10       Impact factor: 4.132

8.  Orodental findings and genetic disorders.

Authors:  C F Salinas
Journal:  Birth Defects Orig Artic Ser       Date:  1982

9.  Coffin-Lowry syndrome in an Afro-American family.

Authors:  B G Kousseff
Journal:  Am J Med Genet       Date:  1982-03

10.  Brief clinical report: early recognition of the Coffin-Lowry syndrome.

Authors:  W G Wilson; T E Kelly
Journal:  Am J Med Genet       Date:  1981
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  13 in total

1.  "Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome.

Authors:  Y J Crow; S M Zuberi; R McWilliam; J L Tolmie; A Hollman; K Pohl; J B Stephenson
Journal:  J Med Genet       Date:  1998-02       Impact factor: 6.318

2.  Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome.

Authors:  Maria Zeniou; Solange Pannetier; Jean-Pierre Fryns; André Hanauer
Journal:  Am J Hum Genet       Date:  2002-04-25       Impact factor: 11.025

3.  A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27.

Authors:  V Shashi; M N Berry; S Shoaf; J J Sciote; D Goldstein; T C Hart
Journal:  Am J Hum Genet       Date:  2000-02       Impact factor: 11.025

4.  Altered extracellular signal-regulated kinase signaling and glycogen metabolism in skeletal muscle from p90 ribosomal S6 kinase 2 knockout mice.

Authors:  S D Dufresne; C Bjørbaek; K El-Haschimi; Y Zhao; W G Aschenbach; D E Moller; L J Goodyear
Journal:  Mol Cell Biol       Date:  2001-01       Impact factor: 4.272

5.  RSK2 represses HSF1 activation during heat shock.

Authors:  X Wang; A Asea; Y Xie; E Kabingu; M A Stevenson; S K Calderwood
Journal:  Cell Stress Chaperones       Date:  2000-11       Impact factor: 3.667

6.  Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations.

Authors:  S Jacquot; K Merienne; D De Cesare; S Pannetier; J L Mandel; P Sassone-Corsi; A Hanauer
Journal:  Am J Hum Genet       Date:  1998-12       Impact factor: 11.025

7.  Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome.

Authors:  K Merienne; S Jacquot; E Trivier; S Pannetier; A Rossi; C Scott; A Schinzel; C Castellan; W Kress; A Hanauer
Journal:  J Med Genet       Date:  1998-11       Impact factor: 6.318

8.  Rsk-2 activity is necessary for epidermal growth factor-induced phosphorylation of CREB protein and transcription of c-fos gene.

Authors:  D De Cesare; S Jacquot; A Hanauer; P Sassone-Corsi
Journal:  Proc Natl Acad Sci U S A       Date:  1998-10-13       Impact factor: 11.205

9.  Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2.

Authors:  V Biancalana; M L Briard; A David; S Gilgenkrantz; J Kaplan; M Mathieu; C Piussan; J Poncin; A Schinzel; C Oudet
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

Review 10.  RSK in tumorigenesis: connections to steroid signaling.

Authors:  T S Karin Eisinger-Mathason; Josefa Andrade; Deborah A Lannigan
Journal:  Steroids       Date:  2010-01-04       Impact factor: 2.668
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