Literature DB >> 20112233

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

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

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Year:  2010        PMID： 20112233     DOI： 10.1002/pd.2458

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


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  6 in total

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

Authors:  Ellen A Croonen; Willy M Nillesen; Kyra E Stuurman; Gretel Oudesluijs; Ingrid M B M van de Laar; Liesbeth Martens; Charlotte Ockeloen; Inge B Mathijssen; Marga Schepens; Martina Ruiterkamp-Versteeg; Hans Scheffer; Brigitte H W Faas; Ineke van der Burgt; Helger G Yntema
Journal:  Eur J Hum Genet       Date:  2013-01-16       Impact factor: 4.246

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

Authors:  Heather Mason-Suares; Diana Toledo; Jean Gekas; Katherine A Lafferty; Naomi Meeks; M Cristina Pacheco; David Sharpe; Thomas E Mullen; Matthew S Lebo
Journal:  Eur J Hum Genet       Date:  2017-01-18       Impact factor: 4.246

Review 3.  Lymphatic Abnormalities in Noonan Syndrome Spectrum Disorders: A Systematic Review.

Authors:  Julia Sleutjes; Lotte Kleimeier; Erika Leenders; Willemijn Klein; Jos Draaisma
Journal:  Mol Syndromol       Date:  2021-09-10

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

Authors:  Isabel Filges; Anjeung Kang; Vanessa Klug; Friedel Wenzel; Karl Heinimann; Sevgi Tercanli; Peter Miny
Journal:  Mol Cytogenet       Date:  2012-09-17       Impact factor: 2.009

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

Authors:  Mafalda Mucciolo; Claudio Dello Russo; Laura D'Emidio; Alvaro Mesoraca; Claudio Giorlandino
Journal:  Int J Mol Sci       Date:  2016-06-16       Impact factor: 5.923

Review 6.  Noonan syndrome.

Authors:  Amy E Roberts; Judith E Allanson; Marco Tartaglia; Bruce D Gelb
Journal:  Lancet       Date:  2013-01-10       Impact factor: 79.321
  6 in total

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