Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes.

作者信息

Houweling A C, de Mooij Y M, van der Burgt I, Yntema H G, Lachmeijer A M A, Go A T J I

出版信息

Prenat Diagn. 2010 Mar;30(3):284-6. doi: 10.1002/pd.2458.

DOI:10.1002/pd.2458

PMID:20112233

Abstract

摘要

相似文献

[1]

Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes.

Prenat Diagn. 2010-3

[2]

PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes.

Genet Test Mol Biomarkers. 2010-6

[3]

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.

Eur J Hum Genet. 2013-1-16

[4]

The Fetal Phenotype of Noonan Syndrome Caused by Severe, Cancer-Related PTPN11 Variants.

Am J Case Rep. 2020-7-31

[5]

PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.

J Hum Genet. 2008

[6]

Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.

Hum Genet. 2015-12-29

[7]

Noonan syndrome: prenatal diagnosis in a woman carrying a PTPN11 gene mutation.

J Matern Fetal Neonatal Med. 2010-7

[8]

Expanding the genetic spectrum of Noonan syndrome.

Horm Res. 2007

[9]

Bilateral giant coronary aneurysms in a 40-year-old male with Noonan syndrome caused by a KRAS germline mutation.

Int J Cardiol. 2014-5-15

[10]

How necessary is to analyze PTPN11 gene in fetuses with first trimester cystic hygroma and normal karyotype?

J Matern Fetal Neonatal Med. 2017-4

引用本文的文献

[1]

Prenatal Sonographic Features of Noonan Syndrome: Case Series and Literature Review.

J Clin Med. 2024-9-26

[2]

Prenatal Diagnosis of Euploid Increased Nuchal Translucency on Fetal Ultrasound (II): RASopathy Disorders - Prenatal Ultrasound Findings and Genotype-phenotype Correlations.

J Med Ultrasound. 2022-11-9

[3]

Lymphatic Abnormalities in Noonan Syndrome Spectrum Disorders: A Systematic Review.

Mol Syndromol. 2022-2

[4]

Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome.

Eur J Hum Genet. 2017-4

[5]

Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome.

Int J Mol Sci. 2016-6-16

[6]

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.

Eur J Hum Genet. 2013-1-16

[7]

Noonan syndrome.

Lancet. 2013-1-10

[8]

Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomalies.

Mol Cytogenet. 2012-9-17

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

新学期，新优惠

Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes.

作者信息

出版信息

相似文献

引用本文的文献

文献AI研究员

用中文搜PubMed

推荐工具

Suppr 超能文献

相似文献

引用本文的文献