Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2
- Author
- TEGAY, D. H1 2 ; CHAN, K. K3 ; LEUNG, L3 ; WANG, C4 ; BURKETT, S5 ; STONE, G5 ; STANYON, R5 6 ; TORIELLO, H. V7 ; HATCHWELL, E8
[1] Department of Pediatrics, Stony Brook University Medical Center, Stony Brook, NY, United States
[2] Department of Medicine and Medical Genetics, New York College of Osteopathic Medicine, Old Westbury, NY, United States
[3] Department of Pediatrics, Kwong Wah Hospital, Hong-Kong
[4] Genome Research Center, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, United States
[5] Comparative Molecular Cytogenetics Core, National Cancer Institute, Frederick, MD, United States
[6] Department of Evolutionary Biology University of Florence, Florence, Italy
[7] Spectrum Health, Grand Rapids, MI, United States
[8] Department of Pathology, Stony Brook University Medical Center, Stony Brook, NY, United States - Source
Clinical genetics. 2009, Vol 75, Num 3, pp 259-264, 6 p ; ref : 18 ref
- Publisher
- Wiley-Blackwell, Oxford
- Publication country
- United Kingdom
- Document type
- Article
- Language
- French
- Author keyword
- SATB2 Toriello-Carey syndrome balanced translocation candidate gene chromosome 14q22 chromosome 2q33
- Keyword (fr)
- Carte génétique De novo Déterminisme génétique Génétique Homme Pathogénie Syndrome Translocation chromosomique Toriello Carey syndrome Aberration chromosomique Chromosome anormal
- Keyword (en)
- Genetic mapping De novo Genetic determinism Genetics Human Pathogenesis Syndrome Chromosome translocation Chromosomal aberration Abnormal chromosome
- Keyword (es)
- Mapa genético De novo Determinismo genético Genética Hombre Patogenia Síndrome Translocación cromosómica Aberración cromosómica Cromosoma anormal
- 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 / 002A07C Classical genetics, quantitative genetics, hybrids / 002A07C03 Human
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23B Chromosome aberrations
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 21140358
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.1399-0004.2008.01145.x 
https://dx.doi.org/10.1111/j.1399-0004.2008.01145.x
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