Literature DB >> 8001324

Noonan syndrome. An update and review for the primary pediatrician.

J A Noonan1.   

Abstract

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Year:  1994        PMID： 8001324     DOI： 10.1177/000992289403300907

Source DB:  PubMed          Journal:  Clin Pediatr (Phila)        ISSN： 0009-9228            Impact factor:   1.168


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  39 in total

1.  Chromosomal localization, genomic characterization, and mapping to the Noonan syndrome critical region of the human Deltex (DTX1) gene.

Authors:  L Lee; J Dowhanick-Morrissette; A Katz; L Jukofsky; I D Krantz
Journal:  Hum Genet       Date:  2000-12       Impact factor: 4.132

2.  Noonan syndrome: clinical aspects and molecular pathogenesis.

Authors:  M Tartaglia; G Zampino; B D Gelb
Journal:  Mol Syndromol       Date:  2010-01-15

Review 3.  Molecular and cellular mechanisms of learning disabilities: a focus on NF1.

Authors:  C Shilyansky; Y S Lee; A J Silva
Journal:  Annu Rev Neurosci       Date:  2010       Impact factor: 12.449

4.  SHP-2 acts via ROCK to regulate the cardiac actin cytoskeleton.

Authors:  Yvette Langdon; Panna Tandon; Erika Paden; Jennifer Duddy; Joan M Taylor; Frank L Conlon
Journal:  Development       Date:  2012-01-25       Impact factor: 6.868

5.  Neurons or glia? Can SHP2 know it all?

Authors:  Volkan Coskun; Jing Zhao; Yi E Sun
Journal:  Sci STKE       Date:  2007-10-30

6.  SHP-2 tyrosine phosphatase in human diseases.

Authors:  Hong Zheng; Shawn Alter; Cheng-Kui Qu
Journal:  Int J Clin Exp Med       Date:  2009-01-30

7.  PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.

Authors:  Jung Min Ko; Jae-Min Kim; Gu-Hwan Kim; Han-Wook Yoo
Journal:  J Hum Genet       Date:  2008-11-20       Impact factor: 3.172

8.  Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.

Authors:  Ellen A Croonen; Willy M Nillesen; Kyra E Stuurman; Gretel Oudesluijs; Ingrid M B M van de Laar; Liesbeth Martens; Charlotte Ockeloen; Inge B Mathijssen; Marga Schepens; Martina Ruiterkamp-Versteeg; Hans Scheffer; Brigitte H W Faas; Ineke van der Burgt; Helger G Yntema
Journal:  Eur J Hum Genet       Date:  2013-01-16       Impact factor: 4.246

9.  An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.

Authors:  Hung-Chun Yu; Elizabeth A Geiger; Livija Medne; Elaine H Zackai; Tamim H Shaikh
Journal:  Am J Med Genet A       Date:  2014-01-23       Impact factor: 2.802

10.  Are ECG abnormalities in Noonan syndrome characteristic for the syndrome?

Authors:  R Raaijmakers; C Noordam; J A Noonan; E A Croonen; C J A M van der Burgt; J M T Draaisma
Journal:  Eur J Pediatr       Date:  2008-02-13       Impact factor: 3.183
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