Martine Doco Fenzy

Summary

Country: France

Publications

  1. doi request reprint Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardation
    Martine Doco-Fenzy
    Service de Genetique, IFR53, UFR de Medecine, CHRU de Reims, France
    Eur J Med Genet 51:598-607. 2008
  2. doi request reprint The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients
    Martine Doco-Fenzy
    Service de Genetique, Hopital Maison Blanche, CHRU, UFR de Medecine, Reims, France
    Am J Med Genet A 146:917-24. 2008
  3. doi request reprint Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia
    Anouck 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
  4. ncbi request reprint Pure direct duplication (12)(q24.1-->q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies
    Martine Doco-Fenzy
    Service de Genetique, CHU Reims, UFR de médecine REIMS, IFR53, Reims, France
    Am J Med Genet A 140:212-21. 2006
  5. ncbi request reprint Cytogenetic characterization of chromosomal rearrangement in a human vinblastine-resistant CEM cell line: use of comparative genomic hybridization and fluorescence in situ hybridization
    Stephanie 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
  6. doi request reprint Collapsing glomerulopathy in Galloway-Mowat syndrome: a case report and review of the literature
    Herve Sartelet
    Pol Bouin Laboratory, University of Reims, CHU Reims, Reims, France
    Pathol Res Pract 204:401-6. 2008
  7. ncbi request reprint Cytogenetic evolution of human ovarian cell lines associated with chemoresistance and loss of tumorigenicity
    Stephanie 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
  8. ncbi request reprint Subtelomeric imbalances in phenotypically normal individuals
    Irina Balikova
    Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
    Hum Mutat 28:958-67. 2007
  9. ncbi request reprint Compilation of published comparative genomic hybridization studies
    Stephanie Struski
    Laboratoire d Hematologie, Hôpital Robert Debré CHU Reims, Reims, France
    Cancer Genet Cytogenet 135:63-90. 2002

Collaborators

  • Joris Andrieux
  • Alain Verloes
  • Dominique Bonneau
  • JAMES LUPSKI
  • Bjorn Menten
  • Joris Robert Vermeesch
  • Martine Doco-Fenzy
  • Stephanie Struski
  • Anouck Schneider
  • Dominique Gaillard
  • Michel Goossens
  • Pascale Cornillet-LeFebvre
  • Emilie Landais
  • Herve Sartelet
  • Nathalie Collot
  • Irina Balikova
  • Juliette Albuisson
  • Nadine Gruson
  • Gerard Potron
  • Linda Masson
  • Evelyne Ulrich
  • Nicole Michel
  • Eric Bieth
  • Luc Laurier Oligny
  • Laure Helene Noel
  • Jean Pierre Melin
  • Philippe Birembaut
  • Rabih Klink
  • Pascal Sabouraud
  • Jean Marie Cuisset
  • Veronique Sulmont
  • Jessica Thevenard
  • Jacques Motte
  • Jean Claude Monboisse
  • Brigitte Delemer
  • Corinne Magdelaine
  • Muriel Holder-Espinasse
  • Agnes Guichet
  • Bernard Roussel
  • Christine Pietrement
  • Anne Durlach
  • Dominique Ploton
  • Florence Dastot-Le-Moal
  • Odile Goze-Martineau
  • Marie Claire Vincent
  • Brigitte Benzacken
  • Bérengère de Martinville
  • Maroun Khoury
  • Sylvie Manouvrier-Hanu
  • Mohamed Belouadah
  • Francis Lefebvre
  • Louis Vallee
  • Laurence Taine
  • Feng Zhang
  • Cedric Le Caignec
  • Koen Devriendt
  • Geert Mortier
  • Janneke van den Ende
  • Marjan de Rademaeker
  • Jean Pierre Fryns
  • Thomy de Ravel
  • Frank Kooy
  • Bernard Thienpont
  • Frank Speleman
  • Montse Urbina
  • Sylvie Bock
  • Florence Dastot-Le Moal
  • Nathalie Bednarek
  • Pierre Mauran
  • Azarnouche Ardalan
  • Jean Marie Lebrun
  • Francis Levy
  • Michael Koehler
  • Ilse Chudoba
  • Jean Benard
  • Jean Dufer

Detail Information

Publications9

  1. doi request reprint Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardation
    Martine 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...
  2. doi request reprint The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients
    Martine 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...
  3. doi request reprint Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia
    Anouck 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...
  4. ncbi request reprint Pure direct duplication (12)(q24.1-->q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies
    Martine 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...
  5. ncbi request reprint Cytogenetic characterization of chromosomal rearrangement in a human vinblastine-resistant CEM cell line: use of comparative genomic hybridization and fluorescence in situ hybridization
    Stephanie 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...
  6. doi request reprint Collapsing glomerulopathy in Galloway-Mowat syndrome: a case report and review of the literature
    Herve 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...
  7. ncbi request reprint Cytogenetic evolution of human ovarian cell lines associated with chemoresistance and loss of tumorigenicity
    Stephanie 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))...
  8. ncbi request reprint Subtelomeric imbalances in phenotypically normal individuals
    Irina Balikova
    Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
    Hum Mutat 28:958-67. 2007
    ....
  9. ncbi request reprint Compilation of published comparative genomic hybridization studies
    Stephanie 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...