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

Growth at Adolescence

1978 • 3,839 citations

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

2001 • 1,678 citations

Crystal Structure of the Tyrosine Phosphatase SHP-2

1998 • 940 citations

Denaturing high-performance liquid chromatography: A review

2001 • 717 citations

Hypertelorism With Turner Phenotype

1968 • 533 citations

Noonan syndrome: A review

1985 • 455 citations

Mice mutant for Egfr and Shp2 have defective cardiac semilunar valvulogenesis

2000 • 293 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

A widely expressed human protein-tyrosine phosphatase containing src homology 2 domains.

1993 • 219 citations

Diagnostic Testing for Rett Syndrome by DHPLC and Direct Sequencing Analysis of the MECP2 Gene: Identification of Several Novel Mutations and Polymorphisms

2000 • 166 citations

Lymphedema in Noonan syndrome: Clues to pathogenesis and prenatal diagnosis and review of the literature

1987 • 134 citations

Longitudinal Standards for Height and Height Velocity for Japanese Children from Birth to Maturity

1992 • 116 citations

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

2000 • 80 citations

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

1998 • 78 citations

Characterization of the aryl hydrocarbon receptor repressor gene and association of its Pro185Ala polymorphism with micropenis

2002 • 49 citations

Skeletal and Sexual Maturation in Japanese Children

1993 • 49 citations

Deletion of the proximal long arm of chromosome 3 in an infant with features of Turner syndrome.

1985 • 34 citations

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

1997 • 30 citations

Protein-tyrosine phosphatase SH-PTP2 (PTPN11) is localized to 12q24.1?24.3

1995 • 30 citations

Micropenis and the AR Gene: Mutation and CAG Repeat-Length Analysis

2001 • 26 citations

Cloning, Expression and Mutational Analysis of SH-PTP2, Human Protein-Tyrosine Phosphatase

1993 • 24 citations

Abnormal phenotype in a child with the same balanced translocation (5;7)(p15;q22) as his father

1981 • 15 citations

Chromosome 13 long arm interstitial deletion associated with features of Noonan phenotype.

1987 • 12 citations

A syndrome of mental retardation, short stature, craniofacial anomalies with palpebral ptosis and pulmonary stenosis in three siblings with normal parents. An example of autosomal recessive inheritance of the Noonan phenotype?

1992 • 8 citations

Duplication (11)(q13.3→q14.2) in a patient with Noonan syndrome

1994 • 2 citations