Search Results

Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1

Authors: Nyström, AM; Ekvall, S; Allanson, J; Edeby, C; Elinder, M; Holmström, G; Bondeson, ML; Annerén, G

Source: Clinical Genetics, Volume 76, Number 6, December 2009 , pp. 524-534(11)

Publisher: Blackwell Publishing

P18.12: Maternal mirror syndrome associated with fetal Noonan syndrome

Authors: Mulic-Lutvica, A.; Anereén, G.; Belachew, J.; Eurenius, K.

Source: Ultrasound in Obstetrics and Gynecology, Volume 34, Supplement 1, September 2009 , pp. 250-250(1)

Publisher: John Wiley & Sons, Ltd.

Protein tyrosine phosphatase SHP-2: A proto-oncogene product that promotes Ras activation

Authors: Matozaki, Takashi; Murata, Yoji; Saito, Yasuyuki; Okazawa, Hideki; Ohnishi, Hiroshi

Source: Cancer Science, Volume 100, Number 10, October 2009 , pp. 1786-1793(8)

Publisher: Blackwell Publishing

Perinatal outcome in fetuses with extremely large nuchal translucency measurement

Authors: SCOTT, Fergus; EVANS, Jackie; McLENNAN, Andrew

Source: Australian and New Zealand Journal of Obstetrics and Gynaecology, Volume 49, Number 3, June 2009 , pp. 254-257(4)

Publisher: Blackwell Publishing

SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome

Authors: Hanna; Parfait; Talaat; Vidaud; Elsedfy

Source: Clinical Genetics, Volume 75, Number 6, June 2009 , pp. 568-571(4)

Publisher: Blackwell Publishing

Genotype differences in cognitive functioning in Noonan syndrome

Authors: Pierpont; Mendelsohn; Roberts; Tworog-Dube; Seidenberg

Source: Genes, Brain & Behavior, Volume 8, Number 3, April 2009 , pp. 275-282(8)

Publisher: Blackwell Publishing

Noonan syndrome and related disorders: a matter of dysregulated ras signalling

Source: Acta Pædiatrica, Volume 98, Number 5, May 2009 , pp. 920-920(1)

Publisher: Blackwell Publishing

A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins

Authors: Nyström, Anna-Maja; Ekvall, Sara; Strömberg, Bo; Holmström, Gerd; Thuresson, Ann-Charlotte; Annerén, Göran; Bondeson, Marie-Louise

Source: Acta Pædiatrica, Volume 98, Number 4, April 2009 , pp. 693-698(6)

Publisher: Blackwell Publishing

Probable Noonan syndrome in a boy without PTPN11 mutation, manifesting unusual complications

Authors: Sumi, Muneichiro; Ohno, Yasuharu; Sasaki, Rie; Kondoh, Tatsuro; Tagawa, Masato; Masuzaki, Hideaki; Moriuchi, Hiroyuki

Source: Pediatrics International, Volume 51, Number 1, February 2009 , pp. 138-140(3)

Publisher: Blackwell Publishing

PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings

Authors: Lee; Williams; Roza; Ferguson; David; Eddleman; Stone; Edelmann; Richard; Gelb; Kornreich

Source: Clinical Genetics, Volume 75, Number 2, February 2009 , pp. 190-194(5)

Publisher: Blackwell Publishing

Coronary Artery Dilatation in LEOPARD Syndrome. A Child Case and Literature Review

Authors: Iwasaki, Yoko; Horigome, Hitoshi; Takahashi-Igari, Miho; Kato, Yoshiaki; Razzaque, M. Abdur; Matsuoka, Rumiko

Source: Congenital Heart Disease, Volume 4, Number 1, January/February 2009 , pp. 38-41(4)

Publisher: Blackwell Publishing

Coronary myocardial bridging in Noonan syndrome: definitive diagnosis with high-resolution CT

Authors: LEYE, M; CALCAGNI, G; BRUNELLE, F; BONNET, D; SIDI, D; OU, P

Source: British Journal of Radiology, Volume 82, Number 973, January 2009 , pp. e8-e10(1)

Publisher: British Institute of Radiology

Okamoto syndrome in a girl of Caucasian origin

Authors: Markouri, Margharita; Karpathios, Themistokles; Dinopoulos, Argirios; Attilakos, Achilleas; Fretzayas, Andrew; Bakoula, Chryssa; Kitsiou-Tzeli, Sophia

Source: Developmental Medicine & Child Neurology, Volume 50, Number 12, December 2008 , pp. 950-952(3)

Publisher: Blackwell Publishing

Growth hormone therapy in children and adolescents: pharmacokinetic/pharmacodynamic considerations and emerging indications

Author: Denson, Lee A

Source: Expert Opinion on Drug Metabolism and Toxicology, Volume 4, Number 12, December 2008 , pp. 1569-1580(12)

Publisher: Informa Healthcare

Percutaneous Transluminal Septal Myocardial Ablation in a Child with Hypertrophic Obstructive Cardiomyopathy and Noonan Syndrome

Authors: Singh, Harminder; Kalra, Ravi; Keshavamurthy, Ganapathi B.; Singh, Maninder; Singh, Charanjit

Source: Congenital Heart Disease, Volume 3, Number 5, September/October 2008 , pp. 347-351(5)

Publisher: Blackwell Publishing

Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients

Authors: Ferreira, Lize V.; Souza, Silvia C. A. L.; Montenegro, Luciana R.; Malaquias, Alexsandra C.; Arnhold, Ivo J. P.; Mendonca, Berenice B.; Jorge, Alexander A. L.

Source: Clinical Endocrinology, Volume 69, Number 3, September 2008 , pp. 426-431(6)

Publisher: Blackwell Publishing

Giant Cell Aortitis and Noonan Syndrome

Authors: Menon, Shaji; Pierpont, Mary E.; Driscoll, David

Source: Congenital Heart Disease, Volume 3, Number 4, July/August 2008 , pp. 291-294(4)

Publisher: Blackwell Publishing

Granular Cell Tumor of the Scrotum in a Child with Noonan Syndrome

Authors: Sidwell, Rachel U.; Rouse, Pauk; Owen, Rob A.; Green, James S. A.

Source: Pediatric Dermatology, Volume 25, Number 3, May/June 2008 , pp. 341-343(3)

Publisher: Blackwell Publishing

Costello syndrome: clinical diagnosis in the first year of life

Authors: Digilio, M.; Sarkozy, Anna; Capolino, Rossella; Chiarini Testa, M.; Esposito, Giorgia; de Zorzi, Andrea; Cutrera, Renato; Marino, Bruno; Dallapiccola, Bruno

Source: European Journal of Pediatrics, Volume 167, Number 6, June 2008 , pp. 621-628(8)

Publisher: Springer

Orofacial Aspects in Noonan Syndrome: 2 Case Report

Authors: de Oliveira Lira Ortega, Adriana; de Oliveira Guaré, Renata; Kawaji, Nilce Samecima; Ciamponi, Ana Lídia

Source: Journal of Dentistry for Children, Volume 75, Number 1, January-April 2008 , pp. 85-90(6)

Publisher: American Academy of Pediatric Dentistry