Noonan Syndrome and Related Disorders: A Review of Clinical Features and Mutations in Genes of the RAS/MAPK Pathway

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

2001 • 1,678 citations

Hyperactive Ras in developmental disorders and cancer

2007 • 1,549 citations

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia

2003 • 1,019 citations

Germline KRAS mutations cause Noonan syndrome

2006 • 729 citations

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

2007 • 664 citations

Germline gain-of-function mutations in SOS1 cause Noonan syndrome

2006 • 592 citations

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

2006 • 573 citations

Activating Mutations of the Noonan Syndrome-Associated SHP2/PTPN11 Gene in Human Solid Tumors and Adult Acute Myelogenous Leukemia

2004 • 489 citations

Germline gain-of-function mutations in RAF1 cause Noonan syndrome

2007 • 480 citations

Noonan syndrome: A review

1985 • 455 citations

Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene

2002 • 409 citations

Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease

2006 • 394 citations

NOONAN SYNDROME AND RELATED DISORDERS: Genetics and Pathogenesis

2005 • 346 citations

The Ullrich-Noonan Syndrome (Turner Phenotype)

1974 • 306 citations

Mapping a gene for Noonan syndrome to the long arm of chromosome 12

1994 • 285 citations

Diverse Biochemical Properties of Shp2 Mutants

2005 • 278 citations

Clinical and molecular studies in a large Dutch family with Noonan syndrome

1994 • 276 citations

PTPN11 mutations in LEOPARD syndrome

2002 • 271 citations

The natural history of Noonan syndrome: a long-term follow-up study

2006 • 268 citations

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype phenotype relationships and overlap with Costello syndrome

2007 • 251 citations

Genotype-phenotype correlations in Noonan syndrome

2004 • 245 citations

Stops along the RAS pathway in human genetic disease

2006 • 191 citations

Enhancing leptin response by preventing SH2-containing phosphatase 2 interaction with Ob receptor

1998 • 177 citations

PTPN11 Mutations Are Associated with Mild Growth Hormone Resistance in Individuals with Noonan Syndrome

2005 • 168 citations

Involvement of the Src Homology 2-containing Tyrosine Phosphatase SHP-2 in Growth Hormone Signaling

1998 • 163 citations

Functional analysis of leukemia-associated PTPN11 mutations in primary hematopoietic cells

2005 • 146 citations

Genetic analysis of protein tyrosine phosphatases

1998 • 145 citations

Mutation of the SHP-2 Binding Site in Growth Hormone (GH) Receptor Prolongs GH-Promoted Tyrosyl Phosphorylation of GH Receptor, JAK2, and STAT5B

2000 • 131 citations

Noonan Syndrome: Relationships between Genotype, Growth, and Growth Factors

2006 • 130 citations

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

2005 • 125 citations

Identification of Shp-2 as a Stat5A Phosphatase

2003 • 123 citations

Genotypic and phenotypic characterization of Noonan syndrome: New data and review of the literature

2005 • 122 citations

Deregulated Ras signaling in developmental disorders: new tricks for an old dog

2007 • 117 citations

Protein-Tyrosine Phosphatase, Nonreceptor Type 11 Mutation Analysis and Clinical Assessment in 45 Patients with Noonan Syndrome

2004 • 112 citations

A comprehensive scoring system for evaluating noonan syndrome

1981 • 103 citations

Regulation of Insulin-like Growth Factor I Receptor Dephosphorylation by SHPS-1 and the Tyrosine Phosphatase SHP-2

2002 • 98 citations

PTPN11 (Protein Tyrosine Phosphatase, Nonreceptor Type 11) Mutations and Response to Growth Hormone Therapy in Children with Noonan Syndrome

2005 • 91 citations

Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family

1998 • 78 citations

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

2008 • 75 citations

PTPN11 Gene Analysis in 74 Brazilian Patients with Noonan Syndrome or Noonan-like Phenotype

2006 • 55 citations

Genetic counselling in Noonan syndrome

1993 • 51 citations

Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation

2004 • 42 citations

Are Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities?

2001 • 40 citations

Abnormal Growth in Noonan Syndrome: Genetic and Endocrine Features and Optimal Treatment

2008 • 35 citations

PTPN11 mutations play a minor role in isolated congenital heart disease

2005 • 31 citations

Further delineation of the critical region for noonan syndrome on the long arm of chromosome 12.

1997 • 30 citations

Regulation of IRS-1/SHP2 Interaction and AKT Phosphorylation in Animal Models of Insulin Resistance

2002 • 27 citations

Mild variable Noonan syndrome in a family with a novel PTPN11 mutation

2006 • 19 citations

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

2008 • 11 citations

Variabilidade do fenótipo de pacientes com síndrome de Noonan com e sem mutações no gene PTPN11

2007 • 10 citations

Does the Rare A172G Mutation of PTPN11 Gene Convey a Mild Noonan Syndrome Phenotype?

2006 • 8 citations