Mapping a gene for Noonan syndrome to the long arm of chromosome 12
about
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotypeGrouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 geneHolt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene familyRefined genetic mapping of the darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region.The gene for cherubism maps to chromosome 4p16.The human ribosomal protein genes: sequencing and comparative analysis of 73 genesMouse homologue of the human SART3 gene encoding tumor-rejection antigenA new web-based data mining tool for the identification of candidate genes for human genetic disorders.Vaginal rhabdomyosarcoma in a patient with Noonan syndromePrenatal features of Noonan syndrome.Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome.Genetic heterogeneity in Noonan syndrome: evidence for an autosomal recessive form.A genome wide linkage scan for dizygotic twinning in 525 families of mothers of dizygotic twins.Spontaneous dislocation of a crystalline lens to the anterior chamber with pupillary block glaucoma in Noonan Syndrome: a case reportPTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneityPoor prenatal detection rate of cardiac anomalies in Noonan syndrome.The natural history of Noonan syndrome: a long-term follow-up study.Carney complex and lentiginosisAnesthetic considerations and difficult airway management in a case of Noonan syndrome.Clinical manifestations of Noonan syndrome.Noonan syndrome and related disorders: alterations in growth and puberty.A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene.An unexpected new role of mutant Ras: perturbation of human embryonic developmentSmall bowel bezoar in a patient with Noonan syndrome: report of a case.Restrictive and hypertrophic cardiomyopathies in Noonan syndrome: the overlap syndromesTop-down or bottom-up: Contrasting perspectives on psychiatric diagnosesGenetic counseling in the adult with congenital heart disease: what is the role?Ras/MAPK syndromes and childhood hemato-oncological diseases.What's in a face?Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q: identification of a candidate region for CFC syndrome.PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.The first Noonan syndrome gene: PTPN11, which encodes the protein tyrosine phosphatase SHP-2.PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome.PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.Genetics and variation in phenotype in Noonan syndrome.Noonan syndrome associated with systemic lupus erythematosus.[Noonan syndrome: from phenotype to growth hormone therapy].Epidural labour analgesia in a parturient with Noonan syndrome: a case report.Response to growth hormone treatment and final height in Noonan syndrome in a large cohort of patients in the KIGS database.
P2860
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P2860
Mapping a gene for Noonan syndrome to the long arm of chromosome 12
description
1994 nî lūn-bûn
@nan
1994 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Mapping a gene for Noonan syndrome to the long arm of chromosome 12
@ast
Mapping a gene for Noonan syndrome to the long arm of chromosome 12
@en
Mapping a gene for Noonan syndrome to the long arm of chromosome 12
@nl
type
label
Mapping a gene for Noonan syndrome to the long arm of chromosome 12
@ast
Mapping a gene for Noonan syndrome to the long arm of chromosome 12
@en
Mapping a gene for Noonan syndrome to the long arm of chromosome 12
@nl
prefLabel
Mapping a gene for Noonan syndrome to the long arm of chromosome 12
@ast
Mapping a gene for Noonan syndrome to the long arm of chromosome 12
@en
Mapping a gene for Noonan syndrome to the long arm of chromosome 12
@nl
P2093
P2860
P356
P1433
P1476
Mapping a gene for Noonan syndrome to the long arm of chromosome 12
@en
P2093
C R Jamieson
I van der Burgt
M A Patton
M M Elsawi
M van Reen
P2860
P2888
P304
P356
10.1038/NG1294-357
P407
P577
1994-12-01T00:00:00Z