Didier Lacombe

Didier Lacombe

UNVERIFIED PROFILE

Are you Didier Lacombe?   Register this Author

Register author
Didier Lacombe

Didier Lacombe

Publications by authors named "Didier Lacombe"

Are you Didier Lacombe?   Register this Author

100Publications

4800Reads

37Profile Views

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

J Med Genet 2019 Aug 28;56(8):526-535. Epub 2019 Mar 28.

Service de Génétique, Hospices Civils de Lyon, Bron, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2018-105778DOI Listing
August 2019

Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients.

Clin Genet 2019 Aug 6;96(2):107-117. Epub 2019 Jun 6.

Department of Medical Genetics, CHU Bordeaux INSERM U1211, Université de Bordeaux, Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.13546DOI Listing
August 2019

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant.

Eur J Med Genet 2019 Jun 22;62(6):103530. Epub 2018 Aug 22.

Service de Génétique Médicale, CHU de Bordeaux and Laboratoire MRGM, INSERM U1211, Univ. Bordeaux, Bordeaux, France; Centre de Référence Neurogénétique, Service de Génétique Médicale, CHU de Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2018.08.011DOI Listing
June 2019

Evaluation of the template letter regarding the disclosure of genetic information within the family in France.

J Community Genet 2019 Mar 27. Epub 2019 Mar 27.

Service de Génétique Médicale, Bâtiment Ecole de Sages-Femmes, Groupe Hospitalier Pellegrin, CHU de Bordeaux, Place Amélie Raba-Léon, 33 076, Bordeaux Cedex, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12687-019-00418-7DOI Listing
March 2019

Confirmation of Atypical Presentation With Nonprogressive Leukodystrophy in eIF2B-Related Disorders.

Pediatr Neurol 2019 Mar 1. Epub 2019 Mar 1.

CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France; Laboratoire MRGM, INSERM U1211, Univ. Bordeaux, Bordeaux, France; Centre de référence Neurogénétique, Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2019.02.005DOI Listing
March 2019

Novel KDM5B splice variants identified in patients with developmental disorders: Functional consequences.

Gene 2018 Dec 12;679:305-313. Epub 2018 Sep 12.

Inserm, U1016, Institut Cochin, Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Paris, France; CNRS, UMR8104, Paris, France; Institut de Psychiatrie et de Neurosciences de Paris, 102 rue de la santé, 75014 Paris, France; Laboratoire de Génétique et Biologie Moléculaires, Hôpital Cochin, HUPC, AP-HP, Paris, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2018.09.016DOI Listing
December 2018

Prenatal retinoic acid exposure reveals candidate genes for craniofacial disorders.

Sci Rep 2018 Nov 30;8(1):17492. Epub 2018 Nov 30.

University Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), U 1211 INSERM, F-33000, Bordeaux, France.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41598-018-35681-0
Publisher Site
http://dx.doi.org/10.1038/s41598-018-35681-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6269437PMC
November 2018

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Genet Med 2018 09 4;20(9):965-975. Epub 2018 Jan 4.

Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/gim2017221
Publisher Site
http://dx.doi.org/10.1038/gim.2017.221DOI Listing
September 2018

Redox mechanism of levobupivacaine cytostatic effect on human prostate cancer cells.

Redox Biol 2018 09 31;18:33-42. Epub 2018 May 31.

Univ. Bordeaux, 146 rue Léo Saignat, F-33076 Bordeaux, France; INSERM U1211, F-33076 Bordeaux, France; Cellomet, CGFB, 146 Rue léo Saignat, F-33000 Bordeaux, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.redox.2018.05.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6019688PMC
September 2018

Molecular characterization of a series of 990 index patients with albinism.

Pigment Cell Melanoma Res 2018 07 14;31(4):466-474. Epub 2018 Feb 14.

Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pcmr.12688DOI Listing
July 2018

Further delineation of the duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Authors:
Marguerite Miguet Laurence Faivre Jeanne Amiel Mathilde Nizon Renaud Touraine Fabienne Prieur Laurent Pasquier Mathilde Lefebvre Julien Thevenon Christèle Dubourg Sophie Julia Catherine Sarret Ganaëlle Remerand Christine Francannet Fanny Laffargue Odile Boespflug-Tanguy Albert David Bertrand Isidor Jacqueline Vigneron Bruno Leheup Laetitia Lambert Christophe Philippe Mylène Béri-Dexheimer Jean-Marie Cuisset Joris Andrieux Ghislaine Plessis Annick Toutain Laurent Guibaud Valérie Cormier-Daire Marlene Rio Jean-Paul Bonnefont Bernard Echenne Hubert Journel Lydie Burglen Sandrine Chantot-Bastaraud Thierry Bienvenu Clarisse Baumann Laurence Perrin Séverine Drunat Pierre-Simon Jouk Klaus Dieterich Françoise Devillard Didier Lacombe Nicole Philip Sabine Sigaudy Anne Moncla Chantal Missirian Catherine Badens Nathalie Perreton Christel Thauvin-Robinet Réseau AChro-Puce Jean-Michel Pedespan Caroline Rooryck Cyril Goizet Catherine Vincent-Delorme Bénédicte Duban-Bedu Nadia Bahi-Buisson Alexandra Afenjar Kim Maincent Delphine Héron Jean-Luc Alessandri Dominique Martin-Coignard Gaëtan Lesca Massimiliano Rossi Martine Raynaud Patrick Callier Anne-Laure Mosca-Boidron Nathalie Marle Charles Coutton Véronique Satre Cédric Le Caignec Valérie Malan Serge Romana Boris Keren Anne-Claude Tabet Valérie Kremer Sophie Scheidecker Adeline Vigouroux Marilyn Lackmy-Port-Lis Damien Sanlaville Marianne Till Maryline Carneiro Brigitte Gilbert-Dussardier Marjolaine Willems Hilde Van Esch Vincent Des Portes Salima El Chehadeh

J Med Genet 2018 Jun 4;55(6):359-371. Epub 2018 Apr 4.

Service de génétique médicale, Institut de Génétique Médicale d'Alsace (IGMA), Centre de Référence Maladies Rares "Anomalies du développement et syndromes malformatifs", Centre de Référence Maladies Rares "Des déficiences intellectuelles de causes rares", Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2017-104956DOI Listing
June 2018

Ubiquitin-Dependent Degradation of Mitochondrial Proteins Regulates Energy Metabolism.

Cell Rep 2018 Jun;23(10):2852-2863

Laboratoire Maladies Rares, Génétique et Métabolisme-INSERM U1211, 33000 Bordeaux, France; Université de Bordeaux, 146 rue Léo-Saignat, 33076 Bordeaux Cedex, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.celrep.2018.05.013DOI Listing
June 2018

Non-specific gastrointestinal features: Could it be Fabry disease?

Dig Liver Dis 2018 May 1;50(5):429-437. Epub 2018 Mar 1.

Neurological Unit, St. Bassiano Hospital, Bassano del Grappa, Italy. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S15908658183020
Publisher Site
http://dx.doi.org/10.1016/j.dld.2018.02.011DOI Listing
May 2018

Recommendations for the inclusion of Fabry disease as a rare febrile condition in existing algorithms for fever of unknown origin.

Intern Emerg Med 2017 Oct 19;12(7):1059-1067. Epub 2017 Jul 19.

Unit of Immunology, Rheumatology, Allergy and Rare Diseases (UnIRAR), IRCCS San Raffaele Hospital, Vita-Salute San Raffaele University, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11739-017-1704-yDOI Listing
October 2017

First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2.

Clin Dysmorphol 2017 Oct;26(4):231-234

aDepartment of Medical Genetics, CHU Bordeaux bCaribbean Reference Center for rare neuromuscular and neurologic diseases (CeRCa), CHU Martinique, route de Chateauboeuf, BP 632 97200 Fort-de-France Cédex cMultidisciplinary Center for Prenatal Diagnosis (CPDP) - Mother and Children's Hospital - CHU Martinique, route de Chateauboeuf, BP 632 97200 Fort-de-France Cédex dINSERM U1211, University of Bordeaux, 33076 Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000192DOI Listing
October 2017

A novel de novo mutation in MYT1, the unique OAVS gene identified so far.

Eur J Hum Genet 2017 09 14;25(9):1083-1086. Epub 2017 Jun 14.

Laboratoire Maladies Rares: Génétique et Métabolisme (MRGM), U 1211 INSERM, University Bordeaux, Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2017.101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5558169PMC
September 2017

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.

J Pediatr 2017 06 8;185:160-166.e1. Epub 2017 Mar 8.

APHP, GH Pitié Salpêtrière, Department of genetics, unit of medical genetics, reference center for intellectual disabilities of rare causes, Paris, France; GRC Intellectual Disability and Autism, UPMC, Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France; APHP, Hôpital Armand-Trousseau, Department of genetics, Division of clinical genetics, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2017.02.023DOI Listing
June 2017

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.

J Med Genet 2017 02 31;54(2):100-103. Epub 2016 Aug 31.

Département de Génétique et Centre de Référence Maladies Rares Syndrome de Marfan et pathologies apparentées, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2016-103996DOI Listing
February 2017

Typical facial gestalt in X-linked Kabuki syndrome.

Am J Med Genet A 2016 12 2;170(12):3363-3364. Epub 2016 Aug 2.

CHU de Bordeaux, Service de Génétique Médicale, Hôpital Pellegrin, Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37864DOI Listing
December 2016

Mutations in , encoding the myelin transcription factor 1, are a rare cause of OAVS.

J Med Genet 2016 Nov 29;53(11):752-760. Epub 2016 Jun 29.

University of Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), U 1211 INSERM, Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2016-103774DOI Listing
November 2016

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.

Brain 2016 11;139(11):e64

Assistance Publique-Hôpitaux de Paris, Département de Génétique and Centre de Référence Déficiences Intellectuelles de Causes Rares and GRC UPMC "Déficiences Intellectuelles et Autisme", Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/aww181DOI Listing
November 2016

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.

J Hum Genet 2016 May 14;61(5):447-50. Epub 2016 Jan 14.

Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2015.162DOI Listing
May 2016

Growth patterns of patients with Noonan syndrome: correlation with age and genotype.

Eur J Endocrinol 2016 May 22;174(5):641-50. Epub 2016 Feb 22.

EndocrineBone Diseases, and Genetics Unit, Children's Hospital, Toulouse University Hospital, Toulouse, France INSERM UMR 1043Centre of Pathophysiology of Toulouse Purpan (CPTP), University of Toulouse Paul Sabatier, Toulouse, France

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/EJE-15-0922DOI Listing
May 2016

Albinism in a patient with mutations at both the OA1 and OCA3 loci.

Pigment Cell Melanoma Res 2016 Jan 24;29(1):107-9. Epub 2015 Oct 24.

Maladies Rares: Génétique et Métabolisme (MRGM) EA4576, University Bordeaux, Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pcmr.12408DOI Listing
January 2016

Atypical hematologic and renal manifestations in neurofibromatosis type I: coincidence or pathophysiological link?

Eur J Med Genet 2014 Nov-Dec;57(11-12):639-42. Epub 2014 Sep 16.

CHU Bordeaux, Hôpital Pellegrin, Service de Génétique Médicale, Centre de Référence des Anomalies du Développement Embryonnaire, 33076 Bordeaux Cedex, France; Université Bordeaux, Laboratoire Maladies Rares, Génétique et Métabolisme (MRGM), EA4576, 33076 Bordeaux Cedex, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2014.09.001DOI Listing
July 2015

SCA27 is a cause of early-onset ataxia and developmental delay.

Eur J Paediatr Neurol 2015 Mar 5;19(2):271-3. Epub 2014 Dec 5.

CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France; Univ. Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), EA 4576 Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2014.11.013DOI Listing
March 2015

Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome.

Hum Mutat 2015 Feb 11;36(2):187-90. Epub 2014 Dec 11.

Department of Genetics, INSERM U1163, Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, Hôpital Necker-Enfants Malades (AP-HP), Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22729DOI Listing
February 2015

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

J Clin Endocrinol Metab 2014 Oct 31;99(10):E2138-43. Epub 2014 Jul 31.

EA7331 Faculté des Sciences Pharmaceutiques (S.M., C.D.), 75006 Paris, France; Laboratoire de Biologie et Génétique Moléculaires (J.S., C.L., C.F., C.D.), Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, 75014 Paris, France; Service de Pédiatrie et de Génétique Médicale (P.P., C.M.), Centre Hospitalier Universitaire Morvan, 29200 Brest, France; Department of Reproduction and Gynecological Endocrinology (S.W.), PL-15-1276 Bialystok, Poland; Service de Génétique (M.G.), Centre Hospitalier Régional Clémenceau, 14033 Caen, France; Service de Génétique Médicale (E.B.), Hôpital Purpan, 31059 Toulouse, France; Service de Pédiatrie (F.K.), Hôpital Bel Air, 57126 Thionville, France; Service d'Edocrinologie (O.V.-M.), Centre Hospitalier, 59322 Valenciennes, France; UF de Génétique Clinique (L.P.), Hôpital Robert Debré, Assistance Publique-Hôpitaux de Paris, 75019 Paris, France; Service de Médecine et d'Endocrinologie (F.A.), Hôpital du Cluzeau, 87042 Limoges, France; Service d'Endocrinologie (S.C.), Hôpital Trousseau, and Service d'Endocrinologie (S.C.-M.), Hôpital St Antoine, Assistance Publique-Hôpitaux de Paris, 75012 Paris, France; Service d'Endocrinologie (P.R.), Centre Hospitalier, 49933 Angers, France; Department of Clinical Genetics (H.H.), University Hospital, DK-1165 Copenhagen, Denmark; Department of Medical Genetics (T.P.), Hospital HF Rikshospital, 0424 Oslo, Norway; Service de Génétique Médicale (D.L.), Hôpital Pellegrin, 33076 Bordeaux, France; Service d'Endocrinologie (P.T.), Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013 Paris, France; Service d'Endocrinologie (S.H.), Hôpital l'Archet, 06003 Nice, France; Service de Gynécologie Endocrinienne (D.D.), Hôpital Jeanne de Flandre, 59037 Lille, France; Service d'Endocrinologie (J.Y.), Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, 94275 Le Kremlin-Bicêtre, France; and Service d'Endocrinologie (M.P.), Hôpital Neurologiqu

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2014-2110DOI Listing
October 2014

Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review.

Pediatr Dermatol 2013 Nov-Dec;30(6):665-73

Pediatric Dermatology Unit, Department of Dermatology, National Reference Centre for Rare Skin Disorders, Bordeaux, France; Department of Clinical Genetics, Bordeaux Children's Hospital, CHU de Bordeaux, Bordeaux, France.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/pde.12171
Publisher Site
http://dx.doi.org/10.1111/pde.12171DOI Listing
August 2014

Mutations in SETD2 cause a novel overgrowth condition.

J Med Genet 2014 Aug 22;51(8):512-7. Epub 2014 May 22.

INSERM UMR_1163, Département de génétique, Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2014-102402DOI Listing
August 2014

A novel FTL mutation responsible for neuroferritinopathy with asymmetric clinical features and brain anomalies.

Parkinsonism Relat Disord 2014 Aug 9;20(8):935-7. Epub 2014 May 9.

Service de génétique médicale, CHU de Bordeaux, Hôpital Pellegrin, Bordeaux, France; Laboratoire MRGM: Maladies Rares, Génétique et Métabolisme, Université de Bordeaux, Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.parkreldis.2014.04.026DOI Listing
August 2014

Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication.

Mol Genet Metab 2013 Sep-Oct;110(1-2):90-7. Epub 2013 Jul 20.

CHU Bordeaux, Service de Génétique Médicale, Place Amélie Raba Léon, Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2013.07.013DOI Listing
March 2014

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.

J Invest Dermatol 2014 Feb 28;134(2):568-571. Epub 2013 Aug 28.

Maladies Rares: Génétique et Métabolisme (MRGM), University Bordeaux, Bordeaux, France; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jid.2013.360DOI Listing
February 2014

High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.

Pigment Cell Melanoma Res 2014 Jan 23;27(1):59-71. Epub 2013 Oct 23.

Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France; Maladies Rares: Génétique et Métabolisme (MRGM) EA4576, Univ. Bordeaux, Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pcmr.12173DOI Listing
January 2014

Prenatal diagnosis using array-CGH: a French experience.

Eur J Med Genet 2013 Jul 20;56(7):341-5. Epub 2013 Feb 20.

CHU Bordeaux, Génétique médicale, F-33000 Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2013.02.003DOI Listing
July 2013

Germline mosaicism in Rubinstein-Taybi syndrome.

Gene 2013 Apr 23;518(2):476-8. Epub 2013 Jan 23.

Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohamed V Souissi, Rabat, Maroc.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S03781119130004
Publisher Site
http://dx.doi.org/10.1016/j.gene.2012.12.105DOI Listing
April 2013