Literature DB >> 6884370

The Noonan syndrome.

A Sanchez-Cascos.   

Abstract

Twenty-one patients with Noonan syndrome are presented. Telecanthus low-set ears, epicanthus and facial asymmetry were the commoner facial stigmata. Pterygium colli, pectus excavatum-carinatum and mild physical and mental retardation were also common features. Pulmonary stenosis and patent ductus arteriosus were the most frequent cardiac anomalies. Wide QRS, left axis deviation, giant Q waves and a negative pattern in V6 were useful electrocardiographic signs. We speculate that the Noonan syndrome could be considered as a branchial arch development syndrome.

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Year:  1983        PMID: 6884370     DOI: 10.1093/oxfordjournals.eurheartj.a061452

Source DB:  PubMed          Journal:  Eur Heart J        ISSN: 0195-668X            Impact factor:   29.983


  11 in total

1.  A clinical study of Noonan syndrome.

Authors:  M Sharland; M Burch; W M McKenna; M A Paton
Journal:  Arch Dis Child       Date:  1992-02       Impact factor: 3.791

Review 2.  Noonan syndrome.

Authors:  J E Allanson
Journal:  J Med Genet       Date:  1987-01       Impact factor: 6.318

3.  Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients.

Authors:  E A Croonen; W Nillesen; C Schrander; M Jongmans; H Scheffer; C Noordam; J M T Draaisma; I van der Burgt; H G Yntema
Journal:  Mol Syndromol       Date:  2013-05-08

4.  Noonan's and DiGeorge syndromes with monosomy 22q11.

Authors:  D I Wilson; S B Britton; C McKeown; D Kelly; I E Cross; S Strobel; P J Scambler
Journal:  Arch Dis Child       Date:  1993-02       Impact factor: 3.791

5.  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

6.  Noonan syndrome patient-specific induced cardiomyocyte model carrying SOS1 gene variant c.1654A>G.

Authors:  Narasimman Gurusamy; Sheeja Rajasingh; Vinoth Sigamani; Reshma Rajasingh; Dona Greta Isai; Andras Czirok; Douglas Bittel; Johnson Rajasingh
Journal:  Exp Cell Res       Date:  2021-02-04       Impact factor: 3.905

Review 7.  Noonan syndrome.

Authors:  Ineke van der Burgt
Journal:  Orphanet J Rare Dis       Date:  2007-01-14       Impact factor: 4.123

Review 8.  Hypertrophic Cardiomyopathy in Children: Pathophysiology, Diagnosis, and Treatment of Non-sarcomeric Causes.

Authors:  Emanuele Monda; Marta Rubino; Michele Lioncino; Francesco Di Fraia; Roberta Pacileo; Federica Verrillo; Annapaola Cirillo; Martina Caiazza; Adelaide Fusco; Augusto Esposito; Fabio Fimiani; Giuseppe Palmiero; Giuseppe Pacileo; Paolo Calabrò; Maria Giovanna Russo; Giuseppe Limongelli
Journal:  Front Pediatr       Date:  2021-02-25       Impact factor: 3.569

Review 9.  Noonan syndrome.

Authors:  Amy E Roberts; Judith E Allanson; Marco Tartaglia; Bruce D Gelb
Journal:  Lancet       Date:  2013-01-10       Impact factor: 79.321

10.  Fatal heart failure caused by severe pulmonary regurgitation, tricuspid regurgitation and late-onset mitral stenosis in an adult patient with Noonan syndrome: a case report.

Authors:  Yoshito Kadoya; Tsuneaki Kenzaka; Yohei Oda; Satoaki Matoba
Journal:  BMC Cardiovasc Disord       Date:  2018-07-16       Impact factor: 2.298

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