46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism
- Author
- STOPPA-VAUCHER, S1 2 ; AYABE, T3 ; PAQUETTE, J1 ; PATEY, N4 ; FRANCOEUR, D5 ; VUISSOZ, J.-M6 ; DELADOËY, J1 ; SAMUELS, M. E7 ; OGATA, T3 ; DEAL, C. L1
[1] Endocrinology Service, Department of Pediatrics, CHU Sainte-Justine Research Center and Université de Montreal, Montreal H3T 1C5, Canada
[2] Pediatric Endocrinology and Diabetes Unit, HEL-CHUV, University of Lausanne, Lausanne, Switzerland
[3] Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan
[4] Department of Pathology, CHU Sainte-Justine Research Center and Universite de Montreal, Montreal H3T 1C5, Canada
[5] Department of Obstetrics and Gynecology, CHU Sainte-Justine Research Center and Universite de Montreal, Montreal H3T 1C5, Canada
[6] Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland
[7] Department of Medicine, CHU Sainte-Justine Research Center and Universite de Montreal, Montreal H3T 1 C5, Canada - Source
Clinical genetics. 2012, Vol 82, Num 6, pp 505-513, 9 p ; ref : 35 ref
- Publisher
- Wiley-Blackwell, Oxford
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Author keyword
- 46, XY DSD 46, XY complete gonadal dysgenesis SRY point mutation dysgerminoma genetic counseling germ line mosaicism gonadoblastoma
- Keyword (fr)
- Conseil génétique Dysgerminome Dysgénésie gonade Etude familiale Fratrie Gonadoblastome Génétique Lignée germinale Mosaïcisme Mutation ponctuelle Origine paternelle Père Anomalie de la différenciation sexuelle Cancer Malformation Pathologie de l'appareil génital femelle Pathologie de l'appareil génital Pathologie des ovaires Tumeur maligne
- Keyword (en)
- Genetic counseling Dysgerminoma Dysgenesia gonad Family study Sibling Gonadoblastoma Genetics Germ line Mosaicism Point mutation Paternal origin Father Sexual differentiation disorder Cancer Malformation Female genital diseases Genital diseases Ovarian diseases Malignant tumor
- Keyword (es)
- Consejo genético Disgerminoma Disgenesia gónada Estudio familiar Hermandad Gonadoblastoma Genética Línea germinal Mosaicismo Mutación puntual Origen paterno Padre Anomalía diferenciación sexual Cáncer Malformación Aparato genital hembra patología Aparato genital patología Ovario patología Tumor maligno
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B20 Gynecology. Andrology. Obstetrics / 002B20C Female genital diseases / 002B20C02 Tumors
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Gynecology. Andrology. Obstetrics Medical genetics Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 26585192
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1111/j.1399-0004.2011.01832.x 
https://dx.doi.org/10.1111/j.1399-0004.2011.01832.x
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