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Marc de Braekeleer

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Matthieu Talagas; Arnaud Uguen; Alain Volant; Laurent Doucet; Georges Fournier; Ronan Garlantezec; Eric Gobin; Pascale Marcorelles; Marc de Braekeleer
VEGFR1 and NRP1 Endothelial Expressions Predict Distant Relapse after Radical Prostatectomy in Clinically Localized Prostate Cancer.
Etienne De Braekeleer; Audrey Basinko; Christian Berthou; Clement Bovo; Nathalie Douet-Guilbert; Nadia Gueganic; Jean-Christophe Ianotto; Marie-Josee Le Bris; Frederic Morel; Marc de Braekeleer
Double Inv(3)(q21q26), a rare but recurrent chromosomal abnormality in myeloid hemopathies.
Etienne de Braekeleer; Régis Auffret; Nathalie Douet-Guilbert; Carlos Cordova Fletes; Juan Ramón González García; Frédéric Morel; Janet Margarita Soto Padilla; Marc de Braekeleer
Identification of NIPBL, a new ETV6 partner gene in t(5;12) (p13;p13)-associated acute megakaryoblastic leukemia.

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2013: Matthieu Talagas; Arnaud Uguen; Alain Volant; Laurent Doucet; Georges Fournier; Ronan Garlantezec; Eric Gobin; Pascale Marcorelles; Marc de Braekeleer
VEGFR1 and NRP1 Endothelial Expressions Predict Distant Relapse after Radical Prostatectomy in Clinically Localized Prostate Cancer.
Anticancer research 2013;33(5):2065-75.
2013: Etienne De Braekeleer; Audrey Basinko; Christian Berthou; Clement Bovo; Nathalie Douet-Guilbert; Nadia Gueganic; Jean-Christophe Ianotto; Marie-Josee Le Bris; Frederic Morel; Marc de Braekeleer
Double Inv(3)(q21q26), a rare but recurrent chromosomal abnormality in myeloid hemopathies.
Anticancer research 2013;33(2):639-42.
2013: Etienne de Braekeleer; Régis Auffret; Nathalie Douet-Guilbert; Carlos Cordova Fletes; Juan Ramón González García; Frédéric Morel; Janet Margarita Soto Padilla; Marc de Braekeleer
Identification of NIPBL, a new ETV6 partner gene in t(5;12) (p13;p13)-associated acute megakaryoblastic leukemia.
Leukemia & lymphoma 2013;54(2):423-4.
2013: A Perrin; M Talagas; Jean Amice; C Coat; Frédéric Morel; M H Nguyen; Marc de Braekeleer
Molecular cytogenetic and genetic aspects of globozoospermia: a review.
Andrologia 2013;45(1):1-9.
2012: Aurore Perrin; Ming Huong Nguyen; Audrey Basinko; Marc de Braekeleer; Bruno Delobel; Nathalie Douet-Guilbert; Nadia Guéganic; Marie-Josée Le Bris; Frédéric Morel
Characterization and meiotic segregation of a supernumerary marker chromosome in sperm of infertile males: case report and literature review.
European journal of medical genetics 2012;55(12):743-6.
2012: Etienne De Braekeleer; Nathalie Douet-Guilbert; Marie-Josee Le Bris; Frederic Morel; Audrey Basinko; Marc de Braekeleer
Gene expression profiling of adult t(4;11)(q21;q23)-associated acute lymphoblastic leukemia reveals a different signature from pediatric cases.
Anticancer research 2012;32(9):3893-9.
2012: Matthieu Talagas; Arnaud Uguen; Sebastian Costa; Claude Férec; Phong Dam Hieu; Pascale Marcorelles; Frédéric Morel; Isabelle Quintin-Roué; Sylvia Redon; Marc de Braekeleer
Identification of a novel population in high-grade oligodendroglial tumors not deleted on 1p/19q using array CGH.
Journal of neuro-oncology 2012;109(2):405-13.
2012: Arnaud Uguen; Isabelle Quintin-Roué; Matthieu Talagas; Claire Abasq; Françoise Charles-Pétillon; Charlotte Coat; Marc de Braekeleer; Pascale Marcorelles
[A silent-growing and fast-killing melanoma in a teenager].
Annales de pathologie 2012;32(4):254-8.
2012: Etienne De Braekeleer; Nathalie Douet-Guilbert; Marie-Josée Le Bris; Frédéric Morel; Audrey Basinko; Marc de Braekeleer
ETV6 fusion genes in hematological malignancies: a review.
Leukemia research 2012;36(8):945-61.
2012: L Homer; Véronique Kerlan; Marie Thérèse Le Martelot; Frédéric Morel; Véronique Amice; F Gallon; Marc de Braekeleer
Does 45,X/46,XX mosaicism with 6-28% of aneuploidy affect the outcomes of IVF or ICSI?
European journal of obstetrics, gynecology, and reproductive biology 2012;163(1):47-51.
2012: Nathalie Douet-Guilbert; Jean-Richard Eveillard; N Gueganic; Angèle Herry; Marie-Josée Le Bris; Frédéric Morel; K Trillet; A Basinko; Christian Berthou; C Bovo; E De Braekeleer; A Dos Santos; Marc de Braekeleer
Molecular characterization of deletions of the long arm of chromosome 5 (del(5q)) in 94 MDS/AML patients.
Leukemia 2012;26(7):1695-7.
2012: Etienne De Braekeleer; Nathalie Douet-Guilbert; Rolf Marschalek; Claus Meyer; Frédéric Morel; Marc de Braekeleer
MLL-ELL fusion gene in two infants with acute monoblastic leukemia and myeloid sarcoma.
Leukemia & lymphoma 2012;53(6):1222-4.
2012: Nathalie Douet-Guilbert; Marie-Josée Le Bris; Frédéric Morel; Audrey Basinko; Etienne De Braekeleer; Marc de Braekeleer
Distinct clonal deletions of the long arm of chromosome 5 in a patient with myelodysplastic syndrome.
Leukemia & lymphoma 2012;53(3):487-9.
2012: Audrey Basinko; Maria Luisa Giovannucci Uzielli; Manuela Priolo; Gloria Scarselli; Giuseppina Timpani; Marc de Braekeleer
Clinical and molecular cytogenetic studies in ring chromosome 5: report of a child with congenital abnormalities.
European journal of medical genetics 2012;55(2):112-6.
2011: Etienne De Braekeleer; Audrey Basinko; Christian Berthou; Nathalie Douet-Guilbert; Claude Férec; Marie-Josée Le Bris; Rolf Marschalek; Claus Meyer; Frédéric Morel; Marc de Braekeleer
Identification of MLL partner genes in 27 patients with acute leukemia from a single cytogenetic laboratory.
Molecular oncology 2011;5(6):555-63.
2011: Nathalie Douet-Guilbert; Jean-Richard Eveillard; Nadia Guéganic; Angèle Herry; Marie-Josée Le Bris; Frédéric Morel; Audrey Basinko; Christian Berthou; Clément Bovo; Etienne De Braekeleer; Marc de Braekeleer
Isolated 5p isochromosome in myelodysplastic syndrome: report of the first case.
Leukemia research 2011;35(11):e193-7.
2011: Etienne De Braekeleer; Audrey Basinko; Clément Bovo; Nathalie Douet-Guilbert; Nadia Guéganic; Marie-Josée Le Bris; Frédéric Morel; Marc de Braekeleer
Conventional cytogenetics and breakpoint distribution by fluorescent in situ hybridization in patients with malignant hemopathies associated with inv(3)(q21;q26) and t(3;3)(q21;q26).
Anticancer research 2011;31(10):3441-8.
2011: Audrey Basinko; Clément Bovo; Séverine Audebert-Bellanger; Nathalie Douet-Guilbert; Philippe La Selve; Marie-Josée Le Bris; Jérémie Le Franc; Frédéric Morel; Philippe Parent; Sylvia Quemener; Marc de Braekeleer
Subtelomeric monosomy 11q and trisomy 16q in siblings and an unrelated child: molecular characterization of two der(11)t(11;16).
American journal of medical genetics. Part A 2011;155A(9):2281-7.
2011: Etienne De Braekeleer; Nathalie Douet-Guilbert; David Rowe; Nick Bown; Frédéric Morel; Christian Berthou; Claude Férec; Marc de Braekeleer
ABL1 fusion genes in hematological malignancies: a review.
European journal of haematology 2011;86(5):361-71.
2011: Nathalie Douet-Guilbert; Angèle Herry; Marie-Josée Le Bris; Nadia Guéganic; Clément Bovo; Frédéric Morel; Marc de Braekeleer
Interphase FISH does not improve the detection of DEL(5q) and DEL(20q) in myelodysplastic syndromes.
Anticancer research 2011;31(3):1007-10.
2011: A Perrin; N Louanjli; Y Ziane; T Louanjli; C Le Roy; N Gueganic; Véronique Amice; Marc de Braekeleer; Frédéric Morel
Study of aneuploidy and DNA fragmentation in gametes of patients with severe teratozoospermia.
Reproductive biomedicine online 2011;22(2):148-54.
2011: A Perrin; A Basinko; Nathalie Douet-Guilbert; N Gueganic; Marie-Josée Le Bris; Véronique Amice; Marc de Braekeleer; Frédéric Morel
Aneuploidy and DNA fragmentation in sperm of carriers of a constitutional chromosomal abnormality.
Cytogenetic and genome research 2011;133(2-4):100-6.
2011: Etienne De Braekeleer; Nathalie Douet-Guilbert; Audrey Basinko; Frédéric Morel; Marie-Josée Le Bris; Claude Férec; Marc de Braekeleer
Using bacterial artificial chromosomes in leukemia research: the experience at the university cytogenetics laboratory in Brest, France.
Journal of biomedicine & biotechnology 2011;2011():329471.
2011: Etienne De Braekeleer; Nathalie Douet-Guilbert; Frédéric Morel; Marie-Josée Le Bris; Claude Férec; Marc de Braekeleer
RUNX1 translocations and fusion genes in malignant hemopathies.
Future oncology (London, England) 2011;7(1):77-91.
2010: Nathalie Douet-Guilbert; Audrey Basinko; Jean-Richard Eveillard; Frédéric Morel; Marie-Josée Le Bris; Nadia Guéganic; Clément Bovo; Angèle Herry; Christian Berthou; Marc de Braekeleer
Three rearrangements of chromosome 5 in a patient with myelodysplastic syndrome: an atypical deletion 5q, a complex intrachromosomal rearrangement of chromosome 5, and a paracentric inversion of chromosome 5.
Cancer genetics and cytogenetics 2010;203(2):303-8.
2010: Etienne De Braekeleer; Nathalie Douet-Guilbert; Audrey Basinko; Marie-Josée Le Bris; Frédéric Morel; Christian Berthou; Claude Férec; Marc de Braekeleer
Distinct clonal anomalies involving RUNX1 in acute myeloid leukemia at diagnosis and after bone marrow transplantation.
Annals of hematology 2010;89(12):1277-81.
2010: Audrey Basinko; Aurore Perrin; Huyen Anh Nguyen; Frédéric Morel; Marie-Josée Le Bris; Anne-Hélène Saliou; Michel Collet; Philippe Parent; Caroline Benech; Sylvia Quemener; Claude Ferec; Nathalie Douet-Guilbert; Marc de Braekeleer
Balanced transmission of a paternal complex chromosomal rearrangement involving chromosomes 2, 3, and 18.
American journal of medical genetics. Part A 2010;152A(10):2646-50.
2010: Etienne De Braekeleer; Claus Meyer; Marie-Josée Le Bris; Nathalie Douet-Guilbert; Audrey Basinko; Frédéric Morel; Christian Berthou; Rolf Marschalek; Claude Férec; Marc de Braekeleer
Identification of a MLL-MLLT4 fusion gene resulting from a t(6;11)(q27;q23) presenting as a del(11q) in a child with T-cell acute lymphoblastic leukemia.
Leukemia & lymphoma 2010;51(8):1570-3.
2010: Angèle Herry; Nathalie Douet-Guilbert; Frédéric Morel; Marie-Josée Le Bris; Nadia Guéganic; Christian Berthou; Marc de Braekeleer
Isochromosome 5p and related anomalies: a novel recurrent chromosome abnormality in myeloid disorders.
Cancer genetics and cytogenetics 2010;200(2):134-9.
2010: Etienne De Braekeleer; Audrey Basinko; Nathalie Douet-Guilbert; Frédéric Morel; Marie-Josée Le Bris; Christian Berthou; Patrick Morice; Claude Férec; Marc de Braekeleer
Cytogenetics in pre-B and B-cell acute lymphoblastic leukemia: a study of 208 patients diagnosed between 1981 and 2008.
Cancer genetics and cytogenetics 2010;200(1):8-15.
2010: Etienne De Braekeleer; Claus Meyer; Nathalie Douet-Guilbert; Frédéric Morel; Marie-Josée Le Bris; Christian Berthou; Bertrand Arnaud; Rolf Marschalek; Claude Férec; Marc de Braekeleer
Complex and cryptic chromosomal rearrangements involving the MLL gene in acute leukemia: a study of 7 patients and review of the literature.
Blood cells, molecules & diseases 2010;44(4):268-74.
2010: Aurore Perrin; B Delobel; Joris Andrieux; Philippe Gosset; Nadia Gueganic; Florence Petit; Marc de Braekeleer; Frédéric Morel
Molecular cytogenetic analysis by genomic hybridization to determine the cause of recurrent miscarriage.
Fertility and sterility 2010;93(6):2075.e3-6.
2010: L Homer; Marie Thérèse Le Martelot; Frédéric Morel; Véronique Amice; Véronique Kerlan; Michel Collet; Marc de Braekeleer
45,X/46,XX mosaicism below 30% of aneuploidy: clinical implications in adult women from a reproductive medicine unit.
European journal of endocrinology / European Federation of Endocrine Societies 2010;162(3):617-23.
2010: Etienne De Braekeleer; Nathalie Douet-Guilbert; Frédéric Morel; Marie-Josée Le Bris; Audrey Basinko; Christian Berthou; Patrick Morice; Claude Férec; Marc de Braekeleer
Philadelphia chromosome-positive acute lymphoblastic leukemia: a cytogenetic study of 33 patients diagnosed between 1981 and 2008.
Anticancer research 2010;30(2):569-73.
2010: A Perrin; Frédéric Morel; Nathalie Douet-Guilbert; Marie-Josée Le Bris; Jean Amice; Véronique Amice; Marc de Braekeleer
A study of meiotic segregation of chromosomes in spermatozoa of translocation carriers using fluorescent in situ hybridisation.
Andrologia 2010;42(1):27-34.
2010: Etienne De Braekeleer; Nathalie Douet-Guilbert; Frédéric Morel; Marie-Josée Le Bris; Christian Berthou; Claude Férec; Marc de Braekeleer
RUNX1 amplification in B-cell acute lymphoblastic leukemia.
Leukemia & lymphoma 2010;51(2):329-32.
2010: Caroline Bohec; Nathalie Douet-Guilbert; Audrey Basinko; Marie-Josée Le Bris; Pascale Marcorelles; Marie-Pierre Audrézet; Rémi Tetefort; Karine Bages; Michel Collet; Frederic Morel; Marc de Braekeleer
Difficult diagnosis and management of an heterokaryotypic monochorionic twin pregnancy with discordant fetal sex and 45,X/47,XYY karyotypes.
Fetal and pediatric pathology 2010;29(6):424-30.
2010: Elise Chapiro; Nathalie Leporrier; Isabelle Radford-Weiss; Christian Bastard; Hossein Mossafa; Dominique Leroux; Isabelle Tigaud; Marc de Braekeleer; Christine Terré; Françoise Brizard; Evelyne Callet-Bauchu; Stéphanie Struski; Lauren Veronese; Sandra Fert-Ferrer; Sylvie Taviaux; claude lesty; Frédéric Davi; Hélène Merle-Béral; Olivier A Bernard; Laurent Sutton; Sophie D Raynaud; Florence Nguyen-Khac
Gain of the short arm of chromosome 2 (2p) is a frequent recurring chromosome aberration in untreated chronic lymphocytic leukemia (CLL) at advanced stages.
Leukemia research 2010;34(1):63-8.
2009: Etienne De Braekeleer; Nathalie Douet-Guilbert; Frédéric Morel; Marie-Josée Le Bris; Claus Meyer; Rolf Marschalek; Claude Férec; Marc de Braekeleer
FLNA, a new partner gene fused to MLL in a patient with acute myelomonoblastic leukaemia.
British journal of haematology 2009;146(6):693-5.
2009: Adrian Tempescul; Jean-Christophe Ianotto; Frederic Morel; Veronique Marion; Marc de Braekeleer; Christian Berthou
Lenalidomide, as a single agent, induces complete remission in a refractory mantle cell lymphoma.
Annals of hematology 2009;88(9):921-2.
2009: Etienne De Braekeleer; Claus Meyer; Nathalie Douet-Guilbert; Frédéric Morel; Marie-Josée Le Bris; Rolf Marschalek; Claude Férec; Marc de Braekeleer
A complex 1;19;11 translocation involving the MLL gene in a patient with congenital acute monoblastic leukemia identified by molecular and cytogenetic techniques.
Annals of hematology 2009;88(8):795-7.
2009: Aurore Perrin; Emilie Caer; Maria Oliver-Bonet; Joaquima Navarro; Jordi Benet; Véronique Amice; Marc de Braekeleer; Frédéric Morel
DNA fragmentation and meiotic segregation in sperm of carriers of a chromosomal structural abnormality.
Fertility and sterility 2009;92(2):583-9.
2009: Aurore Perrin; François Vialard; Nathalie Douet-Guilbert; Denise Molina Gomes; Bruno Guthauser; Marc de Braekeleer; Jacqueline Selva; Frédéric Morel
Meiotic segregation of X-autosome translocation in two carriers and implications for assisted reproduction.
Reproductive biomedicine online 2009;18(6):850-5.
2009: A Perrin; Nathalie Douet-Guilbert; Marie-Josée Le Bris; P May-Panloup; A Guichet; Véronique Amice; Jean Amice; Marc de Braekeleer; Frédéric Morel
Increased aneuploidy rates in spermatozoa of a male carrier of a trisomy 18 mosaicism.
International journal of andrology 2009;32(3):231-4.
2009: Etienne De Braekeleer; Jean-Christophe Ianotto; Nathalie Douet-Guilbert; Claus Meyer; Frédéric Morel; Marie-Josée Le Bris; Rolf Marschalek; Christian Berthou; Claude Férec; Marc de Braekeleer
A second case of secondary acute myeloblastic leukemia associated with the MLL-KIAA0284 fusion gene.
Blood cells, molecules & diseases 2009;42(3):292-3.
2009: Etienne De Braekeleer; Claude Férec; Marc de Braekeleer
RUNX1 translocations in malignant hemopathies.
Anticancer research 2009;29(4):1031-7.
2009: Adrian Tempescul; Johanna Feuerbach; Jean-Christophe Ianotto; Florence Dalbies; Veronique Marion; Marie-Josée Le Bris; Marc de Braekeleer; Christian Berthou
A combination therapy with fludarabine, mitoxantrone and rituximab induces complete immunophenotypical remission in B-cell prolymphocytic leukaemia.
Annals of hematology 2009;88(1):85-8.
2008: Nathalie Douet-Guilbert; J L Laï; A Basinko; N Gueganic; J Andrieux; B Pollet; I Plantier; C Delattre; O Crépin; S Corm; Marie-Josée Le Bris; Frédéric Morel; Marc de Braekeleer
Fluorescence in situ hybridization characterization of ider(20q) in myelodysplastic syndrome.
British journal of haematology 2008;143(5):716-20.
2008: Audrey Basinko; Nathalie Douet-Guilbert; Marie-Josée Le Bris; Philippe Parent; Hélène Ansquer; Frédéric Morel; Marc de Braekeleer
Molecular cytogenetic characterization of an 8p22-8p23.2 duplication derived from a maternal intrachromosomal insertion in a child with congenital heart malformation, delayed puberty, and learning disabilities.
American journal of medical genetics. Part A 2008;146A(22):2950-4.
2008: Aurore Perrin; Frédéric Morel; Ludovic Moy; Daniel Colleu; Véronique Amice; Marc de Braekeleer
Study of aneuploidy in large-headed, multiple-tailed spermatozoa: case report and review of the literature.
Fertility and sterility 2008;90(4):1201.e13-7.
2008: Etienne De Braekeleer; Nathalie Douet-Guilbert; Marie-Josée Le Bris; Frédéric Morel; Claude Férec; Marc de Braekeleer
RUNX1-MTG16 fusion gene in acute myeloblastic leukemia with t(16;21)(q24;q22): case report and review of the literature.
Cancer genetics and cytogenetics 2008;185(1):47-50.
2008: Nathalie Douet-Guilbert; Audrey Basinko; Frédéric Morel; Marie-Josée Le Bris; Valérie Ugo; Patrick Morice; Christian Berthou; Marc de Braekeleer
Chromosome 20 deletions in myelodysplastic syndromes and Philadelphia-chromosome-negative myeloproliferative disorders: characterization by molecular cytogenetics of commonly deleted and retained regions.
Annals of hematology 2008;87(7):537-44.
2008: Adrian Tempescul; Jean-Christophe Ianotto; Jean-Richard Eveillard; Gaëlle Guillerm; Christian Berthou; Veronique Marion; Marc de Braekeleer
High-dose melphalan followed by a second bone marrow transplantation in early relapse of acute myeloid leukemia after bone marrow transplantation in children.
Annals of hematology 2008;87(6):503-4.
2008: Emilie Caer; Aurore Perrin; Nathalie Douet-Guilbert; Véronique Amice; Marc de Braekeleer; Frédéric Morel
Differing mechanisms of meiotic segregation in spermatozoa from three carriers of a pericentric inversion of chromosome 8.
Fertility and sterility 2008;89(6):1637-40.
2008: Audrey Basinko; Nathalie Douet-Guilbert; Philippe Parent; Gilles Blondin; M Mingam; Françoise Monot; Frédéric Morel; Marie-Josée Le Bris; Marc de Braekeleer
Familial interstitial deletion of the short arm of chromosome 4 (p15.33-p16.3) characterized by molecular cytogenetic analysis.
American journal of medical genetics. Part A 2008;146(7):899-903.
2008: A Perrin; Nathalie Douet-Guilbert; Marie-Josée Le Bris; G Keromnes; M L Langlois; P Barrière; Jean Amice; Véronique Amice; Marc de Braekeleer; Frédéric Morel
Segregation of chromosomes in sperm of a t(X;18)(q11;p11.1) carrier inherited from his mother: case report.
Human reproduction (Oxford, England) 2008;23(1):227-30.
2007: Etienne De Braekeleer; Nathalie Douet-Guilbert; Marie-Josée Le Bris; Frédéric Morel; Marc de Braekeleer
Translocation 3;21, trisomy 8, and duplication of the Philadelphia chromosome: a rare but recurrent cytogenetic pathway in the blastic phase of chronic myeloid leukemia.
Cancer genetics and cytogenetics 2007;179(2):159-61.
2007: Hélène Marical; Marie-Josée Le Bris; Nathalie Douet-Guilbert; Philippe Parent; J P Descourt; Frédéric Morel; Marc de Braekeleer
18p trisomy: a case of direct 18p duplication characterized by molecular cytogenetic analysis.
American journal of medical genetics. Part A 2007;143A(18):2192-5.
2007: Angèle Herry; Nathalie Douet-Guilbert; Frédéric Morel; Marie-Josée Le Bris; Patrick Morice; Jean-François Abgrall; Christian Berthou; Marc de Braekeleer
Evaluation of chromosome 5 aberrations in complex karyotypes of patients with myeloid disorders reveals their contribution to dicentric and tricentric chromosomes, resulting in the loss of critical 5q regions.
Cancer genetics and cytogenetics 2007;175(2):125-31.
2007: Angèle Herry; Nathalie Douet-Guilbert; Frédéric Morel; Marie-Josée Le Bris; Marc de Braekeleer
Redefining monosomy 5 by molecular cytogenetics in 23 patients with MDS/AML.
European journal of haematology 2007;78(6):457-67.
2007: A Perrin; Nathalie Douet-Guilbert; B Laudier; M L Couet; F Guérif; D Royère; Marie-Josée Le Bris; Marc de Braekeleer; Frédéric Morel
Meiotic segregation in spermatozoa of a 45,XY,-14,der(18)t(14;18)(q11;p11.3) translocation carrier: a case report.
Human reproduction (Oxford, England) 2007;22(3):729-32.
2007: Izabel Bernicot; Nathalie Douet-Guilbert; Marie-Josée Le Bris; Angèle Herry; Frédéric Morel; Marc de Braekeleer
Molecular cytogenetics of IGH rearrangements in non-Hodgkin B-cell lymphoma.
Cytogenetic and genome research 2007;118(2-4):345-52.
2007: Nathalie Douet-Guilbert; Hélène Marical; L Pinson; Angèle Herry; Marie-Josée Le Bris; Frédéric Morel; Marc de Braekeleer
Characterisation of supernumerary chromosomal markers: a study of 13 cases.
Cytogenetic and genome research 2007;116(1-2):18-23.
2007: Adrian Tempescul; Gaëlle Guillerm; Nathalie Douet-Guilbert; Frédéric Morel; Marie-Josée Le Bris; Marc de Braekeleer
Translocation (10;17)(p15;q21) is a recurrent anomaly in acute myeloblastic leukemia.
Cancer genetics and cytogenetics 2007;172(1):74-6.
2007: Frédéric Morel; B Laudier; F Guérif; M L Couet; D Royère; C Roux; Jean Luc Bresson; Véronique Amice; Marc de Braekeleer; Nathalie Douet-Guilbert
Meiotic segregation analysis in spermatozoa of pericentric inversion carriers using fluorescence in-situ hybridization.
Human reproduction (Oxford, England) 2007;22(1):136-41.
2006: Ingrid Duguépéroux; Dominique Hubert; Stéphane Dominique; Gil Bellis; Marc de Braekeleer; Isabelle Durieu
Paternity in men with cystic fibrosis: a retrospective survey in France.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2006;5(4):215-21.
2006: Nathalie Douet-Guilbert; Frédéric Morel; Sylvia Quemener; Aurélie Maguer; Marie-Josée Le Bris; Patrick Morice; Christian Berthou; Marc de Braekeleer
Deletion size characterization of der(9) deletions in Philadelphia-positive chronic myeloid leukemia.
Cancer genetics and cytogenetics 2006;170(2):89-92.
2006: Izabel Bernicot; Frédéric Morel; Marie-Josée Le Bris; Jean-Pierre Bail; Nathalie Douet-Guilbert; Marc de Braekeleer
Rearrangement of the RHOH gene in a case of splenic lymphoma with villous lymphocytes.
Cancer genetics and cytogenetics 2006;170(1):78-9.
2006: Déborah Jamet; Serge Pissard; Marie-Thérèse Blouch; Christian Berthou; Marc de Braekeleer; Jean-François Abgrall
Beta-thalassemia in the indigenous population of Brittany: identification of three rare mutations.
Haematologica 2006;91(10):1418-9.
2006: Hélène Marical; Nathalie Douet-Guilbert; Karine Bages; Michel Collet; Marie-Josée Le Bris; Frédéric Morel; Marc de Braekeleer
Second-trimester prenatal screening for trisomy 21 using biochemical markers: a 7-year experience in one cytogenetic laboratory.
Prenatal diagnosis 2006;26(4):308-12.
2006: Angèle Herry; Nathalie Douet-Guilbert; Nadia Guéganic; Frédéric Morel; Marie-Josée Le Bris; Christian Berthou; Marc de Braekeleer
Del(5q) and MLL amplification in homogeneously staining region in acute myeloblastic leukemia: a recurrent cytogenetic association.
Annals of hematology 2006;85(4):244-9.
2006: Youna Marzin; Déborah Jamet; Nathalie Douet-Guilbert; Frédéric Morel; Marie-Josée Le Bris; Patrick Morice; Jean-François Abgrall; Christian Berthou; Marc de Braekeleer
Chromosome 1 abnormalities in multiple myeloma.
Anticancer research 2006;26(2A):953-9.
2006: Marie-Josée Le Bris; Hélène Le Guern; C Plouhinec; Marie-Pierre Audrezet; Philippe Parent; Jean-Jacques Chabaud; Frédéric Morel; Marc de Braekeleer; Nathalie Douet-Guilbert
Prenatal diagnosis of a mosaic 45,X/46,X,r(X)46,XX with a small ring of the X chromosome.
Genetic counseling (Geneva, Switzerland) 2006;17(4):429-34.
2005: Nathalie Douet-Guilbert; Frédéric Morel; Marie-Josée Le Bris; Marc de Braekeleer
Identification of a complex (11;17;15) translocation in acute promyelocytic leukemia.
Cancer genetics and cytogenetics 2005;163(1):93-4.
2005: L Pinson; A Perrin; C Plouzennec; Philippe Parent; C Metz; Michel Collet; Marie-Josée Le Bris; Nathalie Douet-Guilbert; Frédéric Morel; Marc de Braekeleer
Detection of an unexpected subtelomeric 15q26.2 --> qter deletion in a little girl: clinical and cytogenetic studies.
American journal of medical genetics. Part A 2005;138A(2):160-5.
2005: Déborah Jamet; Youna Marzin; Nathalie Douet-Guilbert; Frédéric Morel; Marie-Josée Le Bris; Angèle Herry; Said Banzakour; Pascal Bourquard; Patrick Morice; Jean-François Abgrall; Christian Berthou; Marc de Braekeleer
Jumping translocations in multiple myeloma.
Cancer genetics and cytogenetics 2005;161(2):159-63.
2005: Bertrand Arnaud; Nathalie Douet-Guilbert; Frédéric Morel; Marie-Josée Le Bris; Angèle Herry; Said Banzakour; Pascal Bourquard; Patrick Morice; Geneviève Le Calvez; Véronique Marion; Jean-François Abgrall; Christian Berthou; Marc de Braekeleer
Screening by fluorescence in situ hybridization for MLL status at diagnosis in 239 unselected patients with acute myeloblastic leukemia.
Cancer genetics and cytogenetics 2005;161(2):110-5.
2005: Izabel Bernicot; Nathalie Douet-Guilbert; Marie-Josée Le Bris; Patrick Morice; Jean-François Abgrall; Christian Berthou; Frédéric Morel; Marc de Braekeleer
Characterization of IGH rearrangements in non-Hodgkin's B-cell lymphomas by fluorescence in situ hybridization.
Anticancer research 2005;25(5):3179-82.
2005: Marc de Braekeleer; Frédéric Morel; Marie-Josée Le Bris; Angèle Herry; Nathalie Douet-Guilbert
The MLL gene and translocations involving chromosomal band 11q23 in acute leukemia.
Anticancer research 2005;25(3B):1931-44.
2005: Jérôme Clain; Jacqueline Lehmann-Che; Ingrid Duguépéroux; Nicole Arous; Emmanuelle Girodon; Marie Legendre; Michel Goossens; Aleksander Edelman; Marc de Braekeleer; Jacques Teulon; Pascale Fanen
Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype.
Human mutation 2005;25(4):360-71.
2005: Ingrid Duguépéroux; Marc de Braekeleer
The CFTR 3849+10kbC->T and 2789+5G->A alleles are associated with a mild CF phenotype.
The European respiratory journal 2005;25(3):468-73.
2005: Nathalie Douet-Guilbert; Bertrand Arnaud; Frédéric Morel; Marie-Josée Le Bris; Marc de Braekeleer
Cryptic 5' MLL gene insertion in an X-chromosome in acute myeloblastic leukemia.
Cancer genetics and cytogenetics 2005;157(2):178-80.
2005: Nathalie Douet-Guilbert; Frédéric Morel; Marie-Josée Le Bris; Angèle Herry; Patrick Morice; Pascal Bourquard; Said Banzakour; Geneviève Le Calvez; Véronique Marion; Christian Berthou; Marc de Braekeleer
Rearrangement of the MLL gene in acute myeloblastic leukemia: report of two rare translocations.
Cancer genetics and cytogenetics 2005;157(2):169-74.
2005: Pascale Marcorelles; Marie-Pierre Audrezet; Marie-Josée Le Bris; Yves Laurent; Jean-Jacques Chabaud; Claude Ferec; Marc de Braekeleer; Michel Collet; Nicole Lagarde
Diagnosis and outcome of complete hydatidiform mole coexisting with a live twin fetus.
European journal of obstetrics, gynecology, and reproductive biology 2005;118(1):21-7.
2005: Nathalie Douet-Guilbert; Frédéric Morel; Marie-Josée Le Bris; Bruno Sassolas; Jean-Dominique Giroux; Marc de Braekeleer
Rearrangement of MLL in a patient with congenital acute monoblastic leukemia and granulocytic sarcoma associated with a t(1;11)(p36;q23) translocation.
Leukemia & lymphoma 2005;46(1):143-6.
2004: Ingrid Duguépéroux; Marc de Braekeleer
Genotype-phenotype relationship for five CFTR mutations frequently identified in western France.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2004;3(4):259-63.
2004: Frédéric Morel; Nathalie Douet-Guilbert; A Moerman; B Duban; C Marchetti; B Delobel; Marie-Josée Le Bris; Véronique Amice; Marc de Braekeleer
Chromosome aneuploidy in the spermatozoa of two men with globozoospermia.
Molecular human reproduction 2004;10(11):835-8.
2004: Frédéric Morel; Nathalie Douet-Guilbert; Marie-Josée Le Bris; Angèle Herry; C Marchetti; V Lefebvre; B Delobel; Véronique Amice; Jean Amice; Marc de Braekeleer
Lack of intraindividual variation of unbalanced spermatozoa frequencies from a 46,XY,t(9;22)(q21;q11.2) carrier: case report.
Human reproduction (Oxford, England) 2004;19(10):2227-30.
2004: Ingrid Duguépéroux; Gil Bellis; Jean-François Lesure; Michel Renouil; Hugues Flodrops; Marc de Braekeleer
Cystic fibrosis at the Reunion Island (France): spectrum of mutations and genotype-phenotype for the Y122X mutation.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2004;3(3):185-8.
2004: Frédéric Morel; Nathalie Douet-Guilbert; Marie-Josée Le Bris; Angèle Herry; Véronique Amice; Jean Amice; Marc de Braekeleer
Meiotic segregation of translocations during male gametogenesis.
International journal of andrology 2004;27(4):200-12.
2004: Bertrand Arnaud; Frédéric Morel; Nathalie Douet-Guilbert; Marie-Josée Le Bris; Marc de Braekeleer
X chromosome insertion in the MLL gene in a case of childhood acute myeloblastic leukemia.
Cancer genetics and cytogenetics 2004;152(2):149-52.
2004: Nathalie Douet-Guilbert; Frédéric Morel; Tiffen Le Charpentier; Marie-Josée Le Bris; Angèle Herry; Patrick Morice; Pascal Bourquard; Jean-François Abgrall; Christian Berthou; Marc de Braekeleer
Interphase FISH for follow-up of Philadelphia chromosome-positive chronic myeloid leukemia treatment.
Anticancer research 2004;24(4):2535-9.
2004: Angèle Herry; Frédéric Morel; Marie-Josée Le Bris; V Bellec; H Lallaoui; Philippe Parent; Marc de Braekeleer
Molecular cytogenetic characterization of two small chromosome 8 derived supernumerary mosaic markers.
American journal of medical genetics. Part A 2004;128A(1):33-8.
2004: Frédéric Morel; Nathalie Douet-Guilbert; Marie-Josée Le Bris; Véronique Amice; Marie Thérèse Le Martelot; S Roche; A Valéri; V Derrien; Jean Amice; Marc de Braekeleer
Chromosomal abnormalities in couples undergoing intracytoplasmic sperm injection. A study of 370 couples and review of the literature.
International journal of andrology 2004;27(3):178-82.
2004: Frédéric Morel; Nathalie Douet-Guilbert; Christophe Roux; Christophe Tripogney; Marie-Josée Le Bris; Marc de Braekeleer; Jean Luc Bresson
Meiotic segregation of a t(7;8)(q11.21;cen) translocation in two carrier brothers.
Fertility and sterility 2004;81(3):682-5.
2004: Nathalie Douet-Guilbert; Frédéric Morel; Marie-Josée Le Bris; Angèle Herry; Geneviève Le Calvez; Véronique Marion; Jean-François Abgrall; Christian Berthou; Marc de Braekeleer
Cytogenetic studies in T-cell acute lymphoblastic leukemia (1981-2002).
Leukemia & lymphoma 2004;45(2):287-90.
2004: Marc de Braekeleer; Gilles Rault; Gil Bellis
Reproductive attitudes of couples having a child with cystic fibrosis in Brittany (France).
Journal of human genetics 2004;49(6):285-9.
2003: Frédéric Morel; Angèle Herry; Marie-Josée Le Bris; P Morice; P Bouquard; Jean-François Abgrall; Christian Berthou; Marc de Braekeleer
Contribution of fluorescence in situ hybridization analyses to the characterization of masked and complex Philadelphia chromosome translocations in chronic myelocytic leukemia.
Cancer genetics and cytogenetics 2003;147(2):115-20.
2003: Nathalie Douet-Guilbert; Frédéric Morel; Marie-Josée Le Bris; Angèle Herry; Geneviève Le Calvez; Véronique Marion; Christian Berthou; Marc de Braekeleer
t(4;11)(q21;p15), including one complex translocation t(1;4;11)(p32;q21;p15), in adult T-cell acute lymphoblastic leukemia.
Leukemia research 2003;27(10):965-7.
2003: Frédéric Morel; Chandran Ka; Marie-Josée Le Bris; Angèle Herry; Patrick Morice; Pascal Bourquard; Jean-François Abgrall; Christian Berthou; Marc de Braekeleer
Deletion of the 5'ABL region in Philadelphia chromosome positive chronic myeloid leukemia: frequency, origin and prognosis.
Leukemia & lymphoma 2003;44(8):1333-8.
2003: Sylvain R Rivard; Carmela Lanzara; Doria Grimard; Massimo Carella; Hervey Simard; Romina Ficarella; Raynald Simard; Adamo Pio D'Adamo; Claude Férec; Clara Camaschella; GIANNI MURA; Antonella Roetto; Marc de Braekeleer; Lucien Bechner; Paolo Gasparini
Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population.
European journal of human genetics : EJHG 2003;11(8):585-9.
2003: Frédéric Morel; Marie-Josée Le Bris; Nathalie Douet-Guilbert; Jérôme Duchemin; Angèle Herry; Geneviève Le Calvez; Véronique Marion; Christian Berthou; Marc de Braekeleer
Insertion of chromosome 11 in chromosome 4 resulting in a 5'MLL-3'AF4 fusion gene in a case of adult acute lymphoblastic leukemia.
Cancer genetics and cytogenetics 2003;145(1):74-7.
2003: Virginie Scotet; Marie-Pierre Audrézet; Michel Roussey; Gilles Rault; Martine Blayau; Marc de Braekeleer; Claude Férec
Impact of public health strategies on the birth prevalence of cystic fibrosis in Brittany, France.
Human genetics 2003;113(3):280-5.
2003: Nathalie Douet-Guilbert; Frédéric Morel; Marie-Josée Le Bris; Angèle Herry; Geneviève Le Calvez; Véronique Marion; Jean-François Abgrall; Christian Berthou; Marc de Braekeleer
A fluorescence in situ hybridization study of TEL-AML1 fusion gene in B-cell acute lymphoblastic leukemia (1984-2001).
Cancer genetics and cytogenetics 2003;144(2):143-7.
2003: Sylvain R Rivard; Carmela Lanzara; Doria Grimard; Massimo Carella; Hervey Simard; Romina Ficarella; Raynald Simard; Adamo Pio D'Adamo; Marc de Braekeleer; Paolo Gasparini
Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family.
Haematologica 2003;88(7):824-6.
2003: Virginie Scotet; David Barton; James B G Watson; Marie-Pierre Audrézet; Trudi McDevitt; Shirley McQuaid; Cathy Shortt; Marc de Braekeleer; Claude Férec; Cédric Le Maréchal
Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland.
Human mutation 2003;22(1):105.
2003: Marie-Josée Le Bris; Pascale Marcorelles; Marie-Pierre Audrézet; Philippe Parent; Patrick Heren; Hélène Le Guern; Angèle Herry; Frédéric Morel; Michel Collet; Claude Férec; Marc de Braekeleer
Prenatal diagnosis of mosaic tetrasomy 8p.
American journal of medical genetics. Part A 2003;120A(1):44-8.
2003: Frédéric Morel; Izabel Bernicot; Angèle Herry; Marie-Josée Le Bris; Véronique Amice; Marc de Braekeleer
An increased incidence of autosomal aneuploidies in spermatozoa from a patient with Klinefelter's syndrome.
Fertility and sterility 2003;79 Suppl 3():1644-6.
2003: D Siret; G Bretaudeau; Bernard Branger; Alain Dabadie; M Dagorne; Véronique David; Marc de Braekeleer; Valérie Moisan-Petit; G Picherot; Gilles Rault; Véronique Storni; Michel Roussey
Comparing the clinical evolution of cystic fibrosis screened neonatally to that of cystic fibrosis diagnosed from clinical symptoms: a 10-year retrospective study in a French region (Brittany).
Pediatric pulmonology 2003;35(5):342-9.
2003: Nathalie Douet-Guilbert; Frédéric Morel; Marie-Josée Le Bris; Angèle Herry; Geneviève Le Calvez; Véronique Marion; Christian Berthou; Marc de Braekeleer
Translocation (12;21) followed by insertion of chromosome 3 material in the derivative chromosome 12 in a case of childhood acute lymphoblastic leukemia.
Cancer genetics and cytogenetics 2003;142(2):120-3.
2003: Frédéric Morel; Marie-Josée Le Bris; Angèle Herry; Patrick Morice; Marc de Braekeleer
Trisomy 15 as the sole abnormality in myelodysplastic syndromes: case report and review of the literature.
Leukemia & lymphoma 2003;44(3):549-51.
2003: Frédéric Morel; C Ka; Marie-Josée Le Bris; Angèle Herry; Patrick Morice; Pascal Bourquard; Jean-François Abgrall; Christian Berthou; Marc de Braekeleer
Deletion of the 5' abl region in Philadelphia chromosome-positive chronic myeloid leukemia.
Leukemia 2003;17(2):473-4.
2002: Frédéric Morel; Angèle Herry; Marie-Josée Le Bris; Geneviève Le Calvez; Véronique Marion; Christian Berthou; Marc de Braekeleer
Isolated granulocytic sarcoma followed by acute myelogenous leukemia type FAB-M2 associated with inversion 16 and trisomies 9 and 22.
Leukemia 2002;16(12):2458-9.
2002: Frédéric Morel; F Gallon; Véronique Amice; Marie-Josée Le Bris; Marie Thérèse Le Martelot; S Roche; A Valéri; V Derrien; Angèle Herry; Jean Amice; Marc de Braekeleer
Sex chromosome mosaicism in couples undergoing intracytoplasmic sperm injection.
Human reproduction (Oxford, England) 2002;17(10):2552-5.
2002: Virginie Scotet; Dominique Gillet; Ingrid Duguépéroux; Marie-Pierre Audrézet; Gil Bellis; Bénédicte Garnier; Michel Roussey; Gilles Rault; Philippe Parent; Marc de Braekeleer; Claude Férec
Spatial and temporal distribution of cystic fibrosis and of its mutations in Brittany, France: a retrospective study from 1960.
Human genetics 2002;111(3):247-54.
2002: Frédéric Morel; Ingrid Duguépéroux; K McElreavey; M-J Le Bris; Angèle Herry; Philippe Parent; Marie Thérèse Le Martelot; M Fellous; Marc de Braekeleer
Transmission of an unbalanced (Y;1) translocation in Brittany, France.
Journal of medical genetics 2002;39(9):e52.
2002: Dominique Gillet; Marc de Braekeleer; Gil Bellis; Isabelle Durieu
Cystic fibrosis and pregnancy. Report from French data (1980-1999).
BJOG : an international journal of obstetrics and gynaecology 2002;109(8):912-8.
2002: Ingrid Duguépéroux; Gil Bellis; Claude Férec; Dominique Gillet; Virginie Scotet; Marc de Braekeleer
Relationship between genotype and phenotype for the CFTR gene W846X mutation.
Journal of medical genetics 2002;39(6):E32.
2002: Virginie Scotet; Marc de Braekeleer; Marie-Pierre Audrézet; Isabelle Quéré; B Mercier; Ingrid Duguépéroux; J Andrieux; Martine Blayau; Claude Férec
Prenatal detection of cystic fibrosis by ultrasonography: a retrospective study of more than 346 000 pregnancies.
Journal of medical genetics 2002;39(6):443-8.
2001: Virginie Scotet; Marie-Pierre Audrézet; Marc de Braekeleer; Claude Férec
[Neonatal screening for cystic fibrosis].
Pathologie-biologie 2001;49(10):785-8.
2001: Virginie Scotet; Marc de Braekeleer; Marie-Pierre Audrézet; L Lodé; C Verlingue; Isabelle Quéré; B Mercier; Ingrid Duguépéroux; JP Codet; M P Moineau; Philippe Parent; Claude Férec
Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis.
Clinical genetics 2001;59(1):42-7.
2000: Stéphane Bezieau; G Picherot; A David; Marc de Braekeleer; C Ferec; Jean-Paul Moisan; André Chaventré
Microsatellite haplotypes associations with 5 CFTR mutations in "Grande Brière", an isolate located in southern Brittany.
Collegium antropologicum 2000;24(2):281-6.
2000: Virginie Scotet; Marc de Braekeleer; Michel Roussey; Gilles Rault; Philippe Parent; M Dagorne; Hubert Journel; A Lemoigne; JP Codet; M Catheline; Véronique David; André Chaventré; Ingrid Duguépéroux; C Verlingue; Isabelle Quéré; B Mercier; Marie-Pierre Audrézet; Claude Férec
Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis.
Lancet 2000;356(9232):789-94.
2000: Gérald Le Gac; GIANNI MURA; Odile Raguenes; Anne-Yvonne Mercier; Marc de Braekeleer; Claude Férec
Nramp2 analysis in hemochromatosis probands.
Blood cells, molecules & diseases 2000;26(4):312-9.
2000: Marc de Braekeleer; Gil Bellis; Gilles Rault; C Allard; M Milot; F Simard
Reproductive attitudes of couples having a child with cystic fibrosis in Saguenay-Lac-Saint-Jean (Quebec, Canada).
Annales de génétique 2000;43(2):93-7.
2000: Gil Bellis; André Chaventré; P Kouamé; F Roux; Maryse Gaimard; I Dilumbu; A Assouan; Marc de Braekeleer
[Assessment of risk factors in the case of endemic goiter in Ivory Coast].
Revue d'épidémiologie et de santé publique 2000;48(2):212-3.
2000: Sylvain R Rivard; GIANNI MURA; Hervey Simard; Raynald Simard; Doria Grimard; Gérald Le Gac; Odile Raguenes; Claude Férec; Marc de Braekeleer
Mutation analysis in the HFE gene in patients with hereditary haemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, Canada).
British journal of haematology 2000;108(4):854-8.
2000: Sylvain R Rivard; C Allard; JP Leblanc; M Milot; G Aubin; F Simard; Claude Férec; Marc de Braekeleer
Correlation between mutations and age in cystic fibrosis in a French Canadian population.
Journal of medical genetics 2000;37(3):225-7.
2000: Sylvain R Rivard; GIANNI MURA; Hervey Simard; Raynald Simard; Doria Grimard; Gérald Le Gac; Odile Raguenes; Claude Férec; Marc de Braekeleer
Clinical and molecular aspects of juvenile hemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, canada).
Blood cells, molecules & diseases 2000;26(1):10-4.
1998: Marc de Braekeleer; G Mayer; André Chaventré
Genetic factors in iodine deficiency disorders: a general review.
Collegium antropologicum 1998;22(1):9-15.
1998: Marc de Braekeleer; C Allard; JP Leblanc; F Simard; G Aubin
Phenotypic variability in five cystic fibrosis patients compound heterozygous for the Y1092X mutation.
Human heredity 1998;48(3):158-62.
1998: Marc de Braekeleer; C Allard; JP Leblanc; G Aubin; F Simard
Is meconium ileus genetically determined or associated with a more severe evolution of cystic fibrosis?
Journal of medical genetics 1998;35(3):262-3.
1998: Marc de Braekeleer; C Allard; JP Leblanc; G Aubin; F Simard
Correlation of sweat chloride concentration with genotypes in cystic fibrosis patients in Saguenay Lac-Saint-Jean, Quebec, Canada.
Clinical biochemistry 1998;31(1):33-6.
1998: Marc de Braekeleer; C Mari; C Verlingue; C Allard; JP Leblanc; F Simard; G Aubin; Claude Férec
Complete identification of cystic fibrosis transmembrane conductance regulator mutations in the CF population of Saguenay Lac-Saint-Jean (Quebec, Canada).
Clinical genetics 1998;53(1):44-6.
1997: J Mathieu; P Allard; G Gobeil; M Girard; Marc de Braekeleer; Paul Bégin
Anesthetic and surgical complications in 219 cases of myotonic dystrophy.
Neurology 1997;49(6):1646-50.
1997: Marc de Braekeleer; C Allard; JP Leblanc; F Simard; G Aubin
Genotype-phenotype correlation in cystic fibrosis patients compound heterozygous for the A455E mutation.
Human genetics 1997;101(2):208-11.
1997: Marc de Braekeleer; C Allard; JP Leblanc; F Simard; G Aubin
Genotype-phenotype correlation in five cystic fibrosis patients homozygous for the 621 + 1G-->T mutation.
Journal of medical genetics 1997;34(9):788-9.
1997: Marc de Braekeleer; F Simard; G Aubin
Little phenotypic variability in three CF sibs compound heterozygous for the 621 + 1G-->T and the 711 + 1G-->T mutations.
Clinical genetics 1997;51(3):214-6.
1997: Marc de Braekeleer; G Mari; C Verlingue; C Allard; JP Leblanc; F Simard; G Aubin; Claude Férec
Clinical features of cystic fibrosis patients with rare genotypes in Saguenay Lac-Saint-Jean (Quebec, Canada).
Annales de génétique 1997;40(4):205-8.
1996: Marc de Braekeleer; J Daigneault; C Allard; F Simard; G Aubin
Genealogy and geographical distribution of CFTR mutations in Saguenay Lac-Saint-Jean (Quebec, Canada).
Annals of human biology 1996;23(5):345-52.
1996: Marc de Braekeleer; A Chaventré; G Bertorelle; C Verlingue; O Raguénès; Bernard Mercier; Claude Férec
Linkage disequilibrium between the four most common cystic fibrosis mutations and microsatellite haplotypes in the Celtic population of Brittany.
Human genetics 1996;98(2):223-7.
1996: Marc de Braekeleer; L Pérusse; L Cantin; J M Bouchard; J Mathieu
A study of inbreeding and kinship in intracranial aneurysms in the Saguenay Lac-Saint-Jean region (Quebec, Canada).
Annals of human genetics 1996;60(Pt 2):99-104.
1996: Marc de Braekeleer
Autosomal recessive disorders in Saguenay-Lac-Saint-Jean (Quebec, Canada): estimation of inbreeding from isonymy.
Annals of human biology 1996;23(2):95-9.
1996: Marc de Braekeleer; M Tremblay; J Thivierge
Genetic analysis of genealogies in mentally retarded autistic probands from Saguenay Lac-Saint-Jean (Quebec, Canada).
Annales de génétique 1996;39(1):47-50.
1995: Marc de Braekeleer; J Daigneault; G Aubin; F Simard; C Allard; M T Fujiwara; K Morgan
Phenotypic heterogeneity in CF sibs compound heterozygous for the G85E and 621 + 1G-->T mutations.
Clinical genetics 1995;47(2):110-1.
1994: Marc de Braekeleer; T N Dao
Hereditary disorders in the French Canadian population of Quebec. II. Contribution of Perche.
Human biology 1994;66(2):225-49.
1994: Marc de Braekeleer; T N Dao
Hereditary disorders in the French Canadian population of Quebec. I. In search of founders.
Human biology 1994;66(2):205-23.
1994: Marc de Braekeleer; F Murray; J Daigneault; C Allard; F Simard; G Aubin
Disease knowledge and reproductive attitudes of parents having a child with cystic fibrosis.
Annales de génétique 1994;37(2):89-92.
1994: Marc de Braekeleer; T Landry; A Cholette
Consanguinity and kinship in Down syndrome in Saguenay Lac-Saint-Jean (Québec).
Annales de génétique 1994;37(2):86-8.
1993: Michael B Edmond; Marc de Braekeleer
Inbreeding effects on fertility and sterility: a case-control study in Saguenay-Lac-Saint-Jean (Québec, Canada) based on a population registry 1838-1971.
Annals of human biology 1993;20(6):545-55.
1993: Michael B Edmond; Marc de Braekeleer
Inbreeding effects on prereproductive mortality: a case-control study in Saguenay-Lac-Saint-Jean (Québec, Canada) based on a population registry 1838-1971.
Annals of human biology 1993;20(6):535-43.
1993: Marc de Braekeleer; T N Dao
Founder effect in beta-thalassaemia in Portneuf, Québec.
Nouvelle revue française d'hématologie 1993;35(4):447-50.
1993: Marc de Braekeleer; A Dallaire; J Mathieu
Genetic epidemiology of sensorimotor polyneuropathy with or without agenesis of the corpus callosum in northeastern Quebec.
Human genetics 1993;91(3):223-7.
1993: Marc de Braekeleer; F Giasson; J Mathieu; M Roy; J P Bouchard; K Morgan
Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec.
Genetic epidemiology 1993;10(1):17-25.
1993: T N Dao; J Mathieu; J P Bouchard; Marc de Braekeleer
Infant mortality in myotonic dystrophy in Saguenay-Lac-St-Jean: a historical perspective.
Clinical genetics 1993;43(1):25-7.
1992: Peter Hechtman; B Boulay; Marc de Braekeleer; Eva Andermann; SB Melançon; J Larochelle; C Prevost; Feige Kaplan
The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada.
Human genetics 1992;90(4):402-6.
1992: T N Dao; J Mathieu; J P Bouchard; Marc de Braekeleer
Fertility in myotonic dystrophy in Saguenay-Lac-St-Jean: a historical perspective.
Clinical genetics 1992;42(5):234-9.
1992: Marc de Braekeleer; Peter Hechtman; Eva Andermann; Feige Kaplan
The French Canadian Tay-Sachs disease deletion mutation: identification of probable founders.
Human genetics 1992;89(1):83-7.
1992: Marc de Braekeleer; J Daigneault
Spatial distribution of the DF508 mutation in cystic fibrosis: a review.
Human biology 1992;64(2):167-74.
1992: Marc de Braekeleer
Inbreeding and kinship in Saguenay-Lac-St-Jean: a study of newborn samples 1956-1971.
Annals of human biology 1992;19(2):115-24.
1992: J Daigneault; G Aubin; F Simard; Marc de Braekeleer
Incidence of cystic fibrosis in Saguenay-Lac-St.-Jean (Quebec, Canada).
Human biology 1992;64(1):115-9.
1992: Rima Rozen; Marc de Braekeleer; J Daigneault; L Ferreira-Rajabi; M Gerdes; L Lamoureux; G Aubin; F Simard; T M Fujiwara; Kenneth Morgan
Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis.
American journal of medical genetics 1992;42(3):360-4.
1992: J Mathieu; Marc de Braekeleer; C Prévost; C Boily
Myotonic dystrophy: clinical assessment of muscular disability in an isolated population with presumed homogeneous mutation.
Neurology 1992;42(1):203-8.
1992: C Dionne; Claude Gagné; Pierre Julien; M R Murthy; M Lambert; G Roederer; J Davignon; Michael R Hayden; P J Lupien; Marc de Braekeleer
Genetic epidemiology of lipoprotein lipase deficiency in Saguenay-Lac-St-Jean (Québec, Canada).
Annales de génétique 1992;35(2):89-92.
1992: E de Medicis; P Ross; R Friedman; H Hume; D Marceau; M Milot; J Lyonnais; Marc de Braekeleer
Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency: a prevalence study in Quebec (Canada).
Human heredity 1992;42(3):179-83.
1992: Marc de Braekeleer; A Vigneault; H Simard
Population genetics of hereditary hemochromatosis in Saguenay Lac-Saint-Jean (Quebec, Canada).
Annales de génétique 1992;35(4):202-7.
1991: J Daigneault; G Aubin; F Simard; Marc de Braekeleer
Genetic epidemiology of cystic fibrosis in Saguenay-Lac-St-Jean (Quebec, Canada).
Clinical genetics 1991;40(4):298-303.
1991: Marc de Braekeleer; J Larochelle
Population genetics of vitamin D-dependent rickets in northeastern Quebec.
Annals of human genetics 1991;55(Pt 4):283-90.
1991: J Daigneault; G Aubin; F Simard; Marc de Braekeleer
Birth distribution in cystic fibrosis in Saguenay-Lac-St-Jean, Quebec, Canada.
Journal of medical genetics 1991;28(9):613-4.
1991: Marc de Braekeleer; C St-Pierre; A Vigneault; H Simard; E de Medicis
Hemochromatosis and pyruvate kinase deficiency. Report of a case and review of the literature.
Annals of hematology 1991;62(5):188-9.
1991: Marc de Braekeleer; T N Dao
Cytogenetic studies in male infertility: a review.
Human reproduction (Oxford, England) 1991;6(2):245-50.
1991: Marc de Braekeleer; M Ross
Inbreeding in Saguenay-Lac-St-Jean (Quebec, Canada): a study of Catholic Church dispensations 1842-1971.
Human heredity 1991;41(6):379-84.
1990: Peter Hechtman; Feige Kaplan; J Bayleran; B Boulay; Eva Andermann; Marc de Braekeleer; SB Melançon; Marie Lambert; M Potier; R Gagné
More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians.
American journal of human genetics 1990;47(5):815-22.
1990: Rima Rozen; R H Schwartz; B C Hilman; P Stanislovitis; Glenn T Horn; Katherine W Klinger; J Daigneault; Marc de Braekeleer; B Kerem; Lap-Chee Tsui
Cystic fibrosis mutations in North American populations of French ancestry: analysis of Quebec French-Canadian and Louisiana Acadian families.
American journal of human genetics 1990;47(4):606-10.
1990: Marc de Braekeleer; T N Dao
Cytogenetic studies in couples experiencing repeated pregnancy losses.
Human reproduction (Oxford, England) 1990;5(5):519-28.
1990: J Mathieu; Marc de Braekeleer; C Prévost
Genealogical reconstruction of myotonic dystrophy in the Saguenay-Lac-Saint-Jean area (Quebec, Canada).
Neurology 1990;40(5):839-42.
1989: J Mathieu; M Simard; Marc de Braekeleer; C Boily; A Deschênes
Partial syndrome of myotonic dystrophy: clinical presentation and follow-up.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 1989;16(1):99-103.
1989: Marc de Braekeleer; A Cholette; J Mathieu; C Boily; Yvonne Robitaille; D Gauvreau
Familial factors in Alzheimer's disease (IMAGE project). A case-control study in the Saguenay-Lac-St-Jean region (Quebec, Canada).
European neurology 1989;29 Suppl 3():2-8.