about
Leopard syndromeDiversity and functional consequences of germline and somatic PTPN11 mutations in human disease.The cardiofaciocutaneous syndromeNoonan syndromeConnecting teratogen-induced congenital heart defects to neural crest cells and their effect on cardiac functionThe neural crest in cardiac congenital anomaliesShp2 knockdown and Noonan/LEOPARD mutant Shp2-induced gastrulation defectsGermline KRAS mutations cause Noonan syndromeNoonan syndrome: clinical aspects and molecular pathogenesis.Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome.Small molecule inhibitors of SHP2 tyrosine phosphatase discovered by virtual screening.Clinical and Molecular Findings of Tunisian Patients with RASopathies.Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanismsSpontaneous dislocation of a crystalline lens to the anterior chamber with pupillary block glaucoma in Noonan Syndrome: a case reportThe natural history of Noonan syndrome: a long-term follow-up study.Noonan syndrome and clinically related disorders.Ectatic coronary arteries in Noonan syndromeSOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlationsNoonan syndrome and related disorders: alterations in growth and puberty.The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.New Genetic Insights into Congenital Heart Disease.Atrioventricular canal defect in patients with RASopathies.An unexpected new role of mutant Ras: perturbation of human embryonic developmentExpansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutationsNoonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation.Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.Deletion of SHP-2 in mesenchymal stem cells causes growth retardation, limb and chest deformity, and calvarial defects in mice.Bleeding disorders in Noonan syndrome.RASopathies: Clinical Diagnosis in the First Year of Life.Growth references for Japanese individuals with Noonan syndrome.The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I).Noonan syndrome: comparing mutation-positive with mutation-negative dutch patientsNRAS Mutations in Noonan Syndrome.An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencingCo-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.Clinical and molecular analysis of RASopathies in a group of Turkish patients.[Noonan syndrome: from phenotype to growth hormone therapy].A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders.
P2860
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P2860
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
Genotype-phenotype correlations in Noonan syndrome.
@en
type
label
Genotype-phenotype correlations in Noonan syndrome.
@en
prefLabel
Genotype-phenotype correlations in Noonan syndrome.
@en
P2093
P1476
Genotype-phenotype correlations in Noonan syndrome.
@en
P2093
Anita Rauch
Gernot Buheitel
Hans-Ulrich Tietze
Helmut Singer
Helmuth-Guenther Doerr
Kirstin Bosse
Michael Hofbeck
Rainer Koenig
Ralf Rauch
Wolfram Kress
P304
P356
10.1016/J.JPEDS.2003.11.032
P407
P577
2004-03-01T00:00:00Z