Genotype-phenotype correlations in Noonan syndrome

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

2001 • 1,678 citations

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

2003 • 1,019 citations

PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity

2002 • 765 citations

Denaturing high-performance liquid chromatography: A review

2001 • 717 citations

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

2002 • 409 citations

Noonan syndrome.

1987 • 304 citations

Shp-2 Tyrosine Phosphatase: Signaling One Cell or Many

1999 • 291 citations

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

1994 • 285 citations

PTPN11 mutations in LEOPARD syndrome

2002 • 271 citations

Noonan syndrome: The changing phenotype

1985 • 244 citations

Cardiologic abnormalities in Noonan syndrome: Phenotypic diagnosis and echocardiographic assessment of 118 patients

1993 • 195 citations

Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

2003 • 158 citations

Longitudinale Körperentwicklung gesunder Kinder von 0 bis 18 Jahren

1992 • 153 citations

PTPN11(Protein-Tyrosine Phosphatase, Nonreceptor-Type 11) Mutations in Seven Japanese Patients with Noonan Syndrome

2002 • 112 citations

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

2002 • 87 citations

Genetic heterogeneity in Noonan syndrome: Evidence for an autosomal recessive form

2000 • 80 citations

Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome

2002 • 53 citations

Genetic counselling in Noonan syndrome

1993 • 51 citations

Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio–facio–cutaneous and Costello syndromes

2003 • 45 citations

PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome

2003 • 40 citations

PTPN11 (Protein-Tyrosine Phosphatase, Nonreceptor-Type 11) Mutations in Seven Japanese Patients with Noonan Syndrome

2002 • 30 citations

GENETIC-COUNSELING IN NOONAN SYNDROME

1991 • 9 citations