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Literature DB >> 12739139

Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report.

Tatsuro Kondoh¹, Eiich Ishii², Yoko Aoki³, Takashi Shimizu⁴, Masafumi Zaitsu², Yoichi Matsubara³, Hiroyuki Moriuchi⁴.

Abstract

Entities: Chemical Disease Gene Mutation

Mesh：

Substances：

Year: 2003 PMID： 12739139 DOI： 10.1007/s00431-003-1227-6

Source DB: PubMed Journal: Eur J Pediatr ISSN： 0340-6199 Impact factor: 3.183

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6 in total

1. A case of Noonan's syndrome with possible associated neuroblastoma.

Authors: R Ijiri; Y Tanaka; K Keisuke; M Masuno; K Imaizumi
Journal: Pediatr Radiol Date: 2000-06

Review 2. Transient abnormal myelopoiesis in Noonan syndrome.

Authors: Ferraris Silvio; Lanza Carlo; Barisone Elena; Bertorello Nicoletta; Farinasso Daniela; Miniero Roberto
Journal: J Pediatr Hematol Oncol Date: 2002-12 Impact factor: 1.289

3. Genetic evidence that Shp-2 tyrosine phosphatase is a signal enhancer of the epidermal growth factor receptor in mammals.

Authors: C K Qu; W M Yu; B Azzarelli; G S Feng
Journal: Proc Natl Acad Sci U S A Date: 1999-07-20 Impact factor: 11.205

4. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

Authors: M Tartaglia; E L Mehler; R Goldberg; G Zampino; H G Brunner; H Kremer; I van der Burgt; A H Crosby; A Ion; S Jeffery; K Kalidas; M A Patton; R S Kucherlapati; B D Gelb
Journal: Nat Genet Date: 2001-12 Impact factor: 38.330

5. PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.

Authors: M Maheshwari; J Belmont; S Fernbach; T Ho; L Molinari; I Yakub; F Yu; A Combes; J Towbin; W J Craigen; R Gibbs
Journal: Hum Mutat Date: 2002-10 Impact factor: 4.878

6. Insulin-like growth factor-II as a paracrine growth factor in human neuroblastoma cells.

Authors: P S Leventhal; A E Randolph; T E Vesbit; A Schenone; A Windebank; E L Feldman
Journal: Exp Cell Res Date: 1995-11 Impact factor: 3.905

6 in total

1. Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.

Authors: Tetsuya Niihori; Yoko Aoki; Hirofumi Ohashi; Kenji Kurosawa; Tatsuro Kondoh; Satoshi Ishikiriyama; Hiroshi Kawame; Hotaka Kamasaki; Tsutomu Yamanaka; Fumio Takada; Kimio Nishio; Masahiro Sakurai; Hiroshi Tamai; Tatsuro Nagashima; Yoichi Suzuki; Shigeo Kure; Kunihiro Fujii; Masue Imaizumi; Yoichi Matsubara
Journal: J Hum Genet Date: 2005-04-15 Impact factor: 3.172

2. Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

Authors: Marco Tartaglia; Simone Martinelli; Lorenzo Stella; Gianfranco Bocchinfuso; Elisabetta Flex; Viviana Cordeddu; Giuseppe Zampino; Ineke van der Burgt; Antonio Palleschi; Tamara C Petrucci; Mariella Sorcini; Claudia Schoch; Robin Foa; Peter D Emanuel; Bruce D Gelb
Journal: Am J Hum Genet Date: 2005-12-07 Impact factor: 11.025

3. Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

Authors: Marjolijn C J Jongmans; Ineke van der Burgt; Peter M Hoogerbrugge; Kees Noordam; Helger G Yntema; Willy M Nillesen; Roland P Kuiper; Marjolijn J L Ligtenberg; Ad Geurts van Kessel; J Han J M van Krieken; Lambertus A L M Kiemeney; Nicoline Hoogerbrugge
Journal: Eur J Hum Genet Date: 2011-03-16 Impact factor: 4.246