Literature DB >> 5581017

A new dominant gene mental retardation syndrome. Association with small stature, tapering fingers, characteristic facies, and possible hydrocephalus.

B Lowry, J R Miller, F C Fraser.   

Abstract

Entities:  

Mesh：

Year:  1971        PMID： 5581017

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN： 0002-922X


× No keyword cloud information.
  26 in total

1.  Coffin-Lowry syndrome.

Authors:  Sanjeev R Ahuja; Shubhangi Upadhye; Hemant V Kulkarni; Madhuri V Kulkarni
Journal:  Indian J Pediatr       Date:  2003-12       Impact factor: 1.967

Review 2.  Ras and Rap signaling in synaptic plasticity and mental disorders.

Authors:  Ruth L Stornetta; J Julius Zhu
Journal:  Neuroscientist       Date:  2010-04-29       Impact factor: 7.519

3.  Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome.

Authors:  Markus Gschwind; Giovanni Foletti; Alessandra Baumer; Armand Bottani; Jan Novy
Journal:  Mol Syndromol       Date:  2015-05-19

Review 4.  Insights into the regulation of 5-HT2A serotonin receptors by scaffolding proteins and kinases.

Authors:  John A Allen; Prem N Yadav; Bryan L Roth
Journal:  Neuropharmacology       Date:  2008-07-02       Impact factor: 5.250

5.  "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

6.  A rational approach to the child with mental retardation for the paediatrician.

Authors:  Jean-François Lemay; Anthony R Herbert; Deborah M Dewey; A Micheil Innes
Journal:  Paediatr Child Health       Date:  2003-07       Impact factor: 2.253

7.  Delineation of the mechanisms of aberrant splicing caused by two unusual intronic mutations in the RSK2 gene involved in Coffin-Lowry syndrome.

Authors:  Maria Zeniou; Renata Gattoni; André Hanauer; James Stévenin
Journal:  Nucleic Acids Res       Date:  2004-02-18       Impact factor: 16.971

Review 8.  Coffin-Lowry syndrome.

Authors:  Patricia Marques Pereira; Anne Schneider; Solange Pannetier; Delphine Heron; André Hanauer
Journal:  Eur J Hum Genet       Date:  2009-11-04       Impact factor: 4.246

9.  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

10.  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
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.