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

European Journal of Human Genetics

Volumn 21, Issue 9, 2013, Pages 936-942

  Croonen, Ellen A ^a   Nillesen, Willy M ^a   Stuurman, Kyra E ^b   Oudesluijs, Gretel ^c   Van De Laar, Ingrid M B M ^c   Martens, Liesbeth ^a   Ockeloen, Charlotte ^a   Mathijssen, Inge B ^d   Schepens, Marga ^a   Ruiterkamp Versteeg, Martina ^a   Scheffer, Hans ^a   Faas, Brigitte H W ^a   Van Der Burgt, Ineke ^a   Yntema, Helger G ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

mutation analysis; Noonan syndrome; nuchal translucency; prenatal testing

Indexed keywords

DNA; K RAS PROTEIN; PROTEIN TYROSINE PHOSPHATASE SHP 2; RAF PROTEIN;

ARTICLE; ASCITES; COUNSELING; CYSTIC LYMPHANGIOMA; FETUS; FETUS HYDROPS; GENE MUTATION; HEART DISEASE; HUMAN; HYDRAMNIOS; HYDROTHORAX; KARYOTYPE; KIDNEY MALFORMATION; MAJOR CLINICAL STUDY; NOONAN SYNDROME; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ABORTION, EUGENIC; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; KARYOTYPE; MOLECULAR DIAGNOSTIC TECHNIQUES; NOONAN SYNDROME; NUCHAL TRANSLUCENCY MEASUREMENT; PREGNANCY; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RAF; RAS PROTEINS;

EID: 84882453922     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.285     Document Type: Article

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