Martine Doco Fenzy
- Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardationMartine Doco-Fenzy
Service de Genetique, IFR53, UFR de Medecine, CHRU de Reims, France
Eur J Med Genet 51:598-607. 2008..The relation between the phenotype and the deletion of both COL4A4 and COL4A3 genes, located in 2q36.3 loci, as well as the disruption of TRIP12 were discussed...
- The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patientsMartine Doco-Fenzy
Service de Genetique, Hopital Maison Blanche, CHRU, UFR de Medecine, Reims, France
Am J Med Genet A 146:917-24. 2008..The patients' other clinical features are compared with previously published cases...
- Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasiaAnouck Schneider
Service de Genetique, UFR de Medecine, Reims CHU, Hopital Maison Blanche, 45 rue Cognacq Jay, Reims, France
Eur J Hum Genet 16:680-7. 2008..67+/-0.10 Mb, respectively. The paternal origin of the deleted chromosome 14 was established by genotyping of microsatellites for patient 1 and the phenotype of terminal del(14)(q32) was compared to maternal uniparental disomy 14...
- Pure direct duplication (12)(q24.1-->q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomaliesMartine Doco-Fenzy
Service de Genetique, CHU Reims, UFR de médecine REIMS, IFR53, Reims, France
Am J Med Genet A 140:212-21. 2006..Comparison with these reported 12q trisomies suggests the duplication dup(12)(q24.1-->q24.2) is associated with a recognizable phenotype consisting of characteristic facial dysmorphism, growth retardation, and cardiac malformation...
- Cytogenetic characterization of chromosomal rearrangement in a human vinblastine-resistant CEM cell line: use of comparative genomic hybridization and fluorescence in situ hybridizationStephanie Struski
Laboratory of Hematology, Robert Debré Hospital and Medical Faculty UPRES EA 20 70 IFR 53 Biomolecules, 51092, Reims Cedex, France
Cancer Genet Cytogenet 132:51-4. 2002..This region contained the MDR1 gene locus and probably neighboring genes, such as SRI or MDR3/ABCB4. According to previous reports, this chromosomal rearrangement occurred during drug selection and attested a resistance acquisition...
- Collapsing glomerulopathy in Galloway-Mowat syndrome: a case report and review of the literatureHerve Sartelet
Pol Bouin Laboratory, University of Reims, CHU Reims, Reims, France
Pathol Res Pract 204:401-6. 2008..The majority of the glomeruli were sclerotic. We report the first case of GMS associated with a collapsing glomerulopathy...
- Cytogenetic evolution of human ovarian cell lines associated with chemoresistance and loss of tumorigenicityStephanie Struski
Laboratory of Hematology, Robert Debré Hospital and Medical Faculty UPRES EA 20 70 IFR 53 Biomolecules, 51100 Reims, France
Anal Cell Pathol 25:115-22. 2003..These chromosomal imbalances could reflected the acquisition of the chemoresistance (der(8)) or the loss of tumorigenicity properties (del(11p))...
- Subtelomeric imbalances in phenotypically normal individualsIrina Balikova
Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
Hum Mutat 28:958-67. 2007....
- Compilation of published comparative genomic hybridization studiesStephanie Struski
Laboratoire d Hematologie, Hôpital Robert Debré CHU Reims, Reims, France
Cancer Genet Cytogenet 135:63-90. 2002..When CGH data from different studies are combined, a pattern of nonrandom genetic aberrations appears. As expected, some of these gains and losses are common to different types of pathologies, while others are more tumor-specific...