RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects

Journal of Medical Genetics

Volumn 48, Issue 7, 2011, Pages 497-504

  Jeanpierre, Cécile ^a,b   Macé, Guillaume ^a,b   Parisot, Mélanie ^a,b   Morinière, Vincent ^a   Pawtowsky, Audrey ^a   Benabou, Marion ^a,b   Martinovic, Jelena ^a   Amiel, Jeanne ^a,b   Attié Bitach, Tania ^a,b   Delezoide, Anne Lise ^b,c   Loget, Philippe ^d   Blanchet, Patricia ^e   Gaillard, Dominique ^f   Gonzales, Marie ^g,h   Carpentier, Wassila ^h,i   Nitschke, Patrick ^b   Tores, Frédéric ^b   Heidet, Laurence ^a   Antignac, Corinne ^a,b   Salomon, Rémi ^a,b  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c HÔPITAL ROBERT DEBRÉ   (France)

^d PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

^e HÔPITAL ARNAUD DE VILLENEUVE   (France)

^f REIMS UNIVERSITY HOSPITAL   (France)

^g ARMAND TROUSSEAU HOSPITAL   (France)

^h SORBONNE UNIVERSITÉ   (France)

ⁱ PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GLIAL CELL LINE DERIVED NEUROTROPHIC FACTOR; PROTEIN RET;

ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; DYSPLASIA; FETUS; GENE FREQUENCY; GENETIC CODE; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRON; KIDNEY AGENESIS; KIDNEY DEVELOPMENT; KIDNEY DISEASE; MAJOR CLINICAL STUDY; MULTICYSTIC DYSPLASTIC KIDNEY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; VALIDATION PROCESS;

ALLELES; CONGENITAL ABNORMALITIES; DNA COPY NUMBER VARIATIONS; FETUS; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; HUMANS; KIDNEY; KIDNEY DISEASES; MUTATION; OPEN READING FRAMES; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTO-ONCOGENE PROTEINS C-RET; SIGNAL TRANSDUCTION;

EID: 79960326685     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.088526     Document Type: Article

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