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Déficiences mentales et anomalies de structure du génome (DMASG)
Physiopathologie et mécanismes moléculaires des anomalies chromosomiques humaines
Génétique et physiopathologie des déficiences mentales autosomiques:
microdélétions subtélomériques - duplicons - cartographie moléculaire des anomalies chromosomiques - corrélations génotype-phénotype
Les publications associées au thème :
BOURDON V, PHILIPPE C, BIENVENU T, KOENIG B, TARDIEU M, CHELLY J, JONVEAUX P. Evidence of somatic mosaicism for a MECP2 muatation in females with Rett syndrome : diagnostic implications. J Med Genet, 2001, 38, 867-870
BOURDON V, PHILIPPE C, LABRUNE O, AMSALLEM D, ARNOULD C, JONVEAUX P. A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients. Hum Genet. 2001 108 : 43-50
MARTEL-PETIT V, PETIT C, MARCHAND M, FLEURENTIN A, FONTAINE B, MITON A, LEMARIE P, PHILIPPE C, JONVEAUX P.Use of the Kleihauer test to detect fetal erythroblasts in the maternal circulation. Prenat Diagn. 2001, 21:106-111.
PETIT C, MARTEL-PETIT V, FLEURENTIN A, MONNIER-BARBARINO P, JONVEAUX P,GERARD H.Use of PRINS for preconception screening of polar bodies for common aneuploidies. Prenat Diagn. 2000, 20:1067-1070
ARNOULD C, PHILIPPE C, BOURDON V, GREGOIRE MJ, BERGER R, JONVEAUX P The signal transducer and activator of transcription STAT5b gene is a new partner of retinoic acid receptor alpha in acute promyelocytic-like leukaemia. Hum Mol Genet 1999 8 :1741-1749
DOLFUS H, JOANNY-LINNOIS O, DOCO-FENZY M, VEYRE L, JOANNY-FLINNOIS L, KHOURY M, JONVEAUX P, ABITBOL M, DUFIER JL. Gillespie syndrome with a t(X;11)(p22.32;12) de novo translocation. Am J Ophtalmology, 1998, 125, 397-399
LOHMANN L, CHELLOUG N, ROSALES B, GUERIN C, LYONNET S, JONVEAUX P, SIMON-BOUY B. Dicentric marker derived from a chromosome 22 associated with mild clinical signs : a case report. Prenatal Diag. 2000, 20 : 156-158
SLOAN-BENA F, PHILIPPE C, LEHEUP B,WUILQUE F, LEVY ER, CHERY M, JONVEAUX P, MONACO AP. Characterization of an inverted X-chromosome (p11.2q21.3) associated with mental retardation using FISH. J Med Genet, 1998, 35, 146-150
JONVEAUX P, LECONIAT M, DERRE J, FLEXOR MA, DANIEL MT, BERGER R. Chromosome microdissection in leukemic patients : a powerful tool for complex chromosomal rearrangements analysis.Gene Chromosome Cancer,1996, 15, 26-33
SAL C, ARRIGO G, TORRI G, MARTINAZZI F, RIVA P, LARIZZA L, PHILIPPE C, JONVEAUX P, SLOAN F, LABELLA T, TONIOLO D. Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15 Mb YAC contig spanning Xq21. Genomics, 1997, 1, 123-131
BOURDON V, PHILIPPE C, GRANDEMENGE A, REICHWALD K, JONVEAUX P. Deletion screening by fluorescence in situ hybridization in Rett syndrome patients. Ann Genet, 2001, 44, 191-194
Physiopathologie et mécanismes moléculaires des anomalies chromosomiques humaines
Génétique et physiopathologie des déficiences mentales autosomiques:
microdélétions subtélomériques - duplicons - cartographie moléculaire des anomalies chromosomiques - corrélations génotype-phénotype
Les publications associées au thème :
BOURDON V, PHILIPPE C, BIENVENU T, KOENIG B, TARDIEU M, CHELLY J, JONVEAUX P. Evidence of somatic mosaicism for a MECP2 muatation in females with Rett syndrome : diagnostic implications. J Med Genet, 2001, 38, 867-870
BOURDON V, PHILIPPE C, LABRUNE O, AMSALLEM D, ARNOULD C, JONVEAUX P. A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients. Hum Genet. 2001 108 : 43-50
MARTEL-PETIT V, PETIT C, MARCHAND M, FLEURENTIN A, FONTAINE B, MITON A, LEMARIE P, PHILIPPE C, JONVEAUX P.Use of the Kleihauer test to detect fetal erythroblasts in the maternal circulation. Prenat Diagn. 2001, 21:106-111.
PETIT C, MARTEL-PETIT V, FLEURENTIN A, MONNIER-BARBARINO P, JONVEAUX P,GERARD H.Use of PRINS for preconception screening of polar bodies for common aneuploidies. Prenat Diagn. 2000, 20:1067-1070
ARNOULD C, PHILIPPE C, BOURDON V, GREGOIRE MJ, BERGER R, JONVEAUX P The signal transducer and activator of transcription STAT5b gene is a new partner of retinoic acid receptor alpha in acute promyelocytic-like leukaemia. Hum Mol Genet 1999 8 :1741-1749
DOLFUS H, JOANNY-LINNOIS O, DOCO-FENZY M, VEYRE L, JOANNY-FLINNOIS L, KHOURY M, JONVEAUX P, ABITBOL M, DUFIER JL. Gillespie syndrome with a t(X;11)(p22.32;12) de novo translocation. Am J Ophtalmology, 1998, 125, 397-399
LOHMANN L, CHELLOUG N, ROSALES B, GUERIN C, LYONNET S, JONVEAUX P, SIMON-BOUY B. Dicentric marker derived from a chromosome 22 associated with mild clinical signs : a case report. Prenatal Diag. 2000, 20 : 156-158
SLOAN-BENA F, PHILIPPE C, LEHEUP B,WUILQUE F, LEVY ER, CHERY M, JONVEAUX P, MONACO AP. Characterization of an inverted X-chromosome (p11.2q21.3) associated with mental retardation using FISH. J Med Genet, 1998, 35, 146-150
JONVEAUX P, LECONIAT M, DERRE J, FLEXOR MA, DANIEL MT, BERGER R. Chromosome microdissection in leukemic patients : a powerful tool for complex chromosomal rearrangements analysis.Gene Chromosome Cancer,1996, 15, 26-33
SAL C, ARRIGO G, TORRI G, MARTINAZZI F, RIVA P, LARIZZA L, PHILIPPE C, JONVEAUX P, SLOAN F, LABELLA T, TONIOLO D. Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15 Mb YAC contig spanning Xq21. Genomics, 1997, 1, 123-131
BOURDON V, PHILIPPE C, GRANDEMENGE A, REICHWALD K, JONVEAUX P. Deletion screening by fluorescence in situ hybridization in Rett syndrome patients. Ann Genet, 2001, 44, 191-194
