Literature DB >> 8882404

Costello syndrome: update on the original cases and commentary.

J M Costello.   

Abstract

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Year:  1996        PMID： 8882404     DOI： 10.1002/ajmg.1320620203

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  13 in total

1.  Costello syndrome: Clinical phenotype, genotype, and management guidelines.

Authors:  Karen W Gripp; Lindsey A Morse; Marni Axelrad; Kathryn C Chatfield; Aaron Chidekel; William Dobyns; Daniel Doyle; Bronwyn Kerr; Angela E Lin; David D Schwartz; Barbara J Sibbles; Dawn Siegel; Suma P Shankar; David A Stevenson; Mihir M Thacker; K Nicole Weaver; Sue M White; Katherine A Rauen
Journal:  Am J Med Genet A       Date:  2019-06-20       Impact factor: 2.802

2.  C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome.

Authors:  Michael Klüppel; Payman Samavarchi-Tehrani; Kela Liu; Jeffrey L Wrana; Aleksander Hinek
Journal:  Eur J Hum Genet       Date:  2012-02-08       Impact factor: 4.246

3.  Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.

Authors:  Angela E Lin; Barbara O'Brien; Laurie A Demmer; Kristina K Almeda; Cynthia L Blanco; Patrick F Glasow; Charles I Berul; Robert Hamilton; A Micheil Innes; Julie L Lauzon; Katia Sol-Church; Karen W Gripp
Journal:  Prenat Diagn       Date:  2009-07       Impact factor: 3.050

4.  Costello syndrome: two cases with embryonal rhabdomyosarcoma.

Authors:  B Kerr; O B Eden; R Dandamudi; N Shannon; O Quarrell; A Emmerson; E Ladusans; M Gerrard; D Donnai
Journal:  J Med Genet       Date:  1998-12       Impact factor: 6.318

Review 5.  Costello syndrome.

Authors:  N Philip; S Sigaudy
Journal:  J Med Genet       Date:  1998-03       Impact factor: 6.318

6.  De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features.

Authors:  Oddmund Søvik; Suzanne Schubbert; Gunnar Houge; Solrun J Steine; Gunnar Norgård; Bernt Engelsen; Pål R Njølstad; Kevin Shannon; Anders Molven
Journal:  BMJ Case Rep       Date:  2009-01-23

7.  Syndrome in question. Costello syndrome.

Authors:  Isy Lima Peixoto; Ana Maria Carreno; Vania Mesquita Gadelha Prazeres; Caroline Albuquerque Rodrigues Chirano; Gabriel Maroja Ihara; Patricia Bandeira de Melo Akel
Journal:  An Bras Dermatol       Date:  2014 Nov-Dec       Impact factor: 1.896

8.  Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein.

Authors:  A Hinek; A C Smith; E M Cutiongco; J W Callahan; K W Gripp; R Weksberg
Journal:  Am J Hum Genet       Date:  2000-03       Impact factor: 11.025

9.  Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene.

Authors:  Débora Romeo Bertola; Alexandre Costa Pereira; Amanda Salem Brasil; Lilian Maria José Albano; Chong Ae Kim; José Eduardo Krieger
Journal:  J Hum Genet       Date:  2007-04-28       Impact factor: 3.172

10.  De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features.

Authors:  Oddmund Søvik; Suzanne Schubbert; Gunnar Houge; Solrun J Steine; Gunnar Norgård; Bernt Engelsen; Pål R Njølstad; Kevin Shannon; Anders Molven
Journal:  J Med Genet       Date:  2007-07       Impact factor: 6.318
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