Publications by authors named "Jean-Hubert Caberg"

34Publications

Correspondence on: "Discrepancy in Spinal Muscular Atrophy Incidence findings in newborn screening programs: the influence of carrier screening?" by Kay et al.

Genet Med 2020 Jun 30. Epub 2020 Jun 30.

Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liège & University of Liège, Liège, Belgium.

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http://dx.doi.org/10.1038/s41436-020-0887-1DOI Listing
June 2020

VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report.

Eur J Med Genet 2019 Aug 14;62(8):103704. Epub 2019 Jun 14.

Center for Human Genetics, Centre Hospitalier Universitaire, University of Liege, Liege, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2019.103704DOI Listing
August 2019

Newborn screening for SMA in Southern Belgium.

Neuromuscul Disord 2019 05 15;29(5):343-349. Epub 2019 Feb 15.

I-Motion, Platform for Pediatric Clinical Trials, Arnold Trousseau Hospital, Paris, France; Neuromuscular Center, CHR Citadelle, University of Liege, Liege, Belgium.

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http://dx.doi.org/10.1016/j.nmd.2019.02.003DOI Listing
May 2019

Exome copy number variation detection: Use of a pool of unrelated healthy tissue as reference sample.

Genet Epidemiol 2017 Jan 10;41(1):35-40. Epub 2016 Nov 10.

Laboratory of Human Genetics, GIGA-Research, University of Liège, Liège, Belgium.

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http://doi.wiley.com/10.1002/gepi.22019
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http://dx.doi.org/10.1002/gepi.22019DOI Listing
January 2017

Combined treatment with octreotide LAR and pegvisomant in patients with pituitary gigantism: clinical evaluation and genetic screening.

Pituitary 2016 Oct;19(5):507-14

Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, 4000, Liège, Belgium.

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http://dx.doi.org/10.1007/s11102-016-0732-3DOI Listing
October 2016

GHRH excess and blockade in X-LAG syndrome.

Endocr Relat Cancer 2016 Mar 15;23(3):161-70. Epub 2015 Dec 15.

Department of EndocrinologyCentre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, BelgiumDepartment of Human GeneticsCentre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, BelgiumPediatric Endocrinology UnitUniversité Catholique de Louvain, Avenue Hippocrate 10, 1200 Brussels, BelgiumCliniques Universitaires Saint Luc and Department of PathologyUniversité Catholique de Louvain, Avenue Hippocrate 10, 1200 Brussels, BelgiumLaboratory of Molecular BiologyAPHM, Hôpital la Conception, 13385, Marseille, FranceAix Marseille UniversitéCRNS, CRN2M-UMR 7286, 13344, Marseille, FranceSection on Endocrinology and GeneticsProgram on Developmental Endocrinology and Genetics (PDEGEN) and Pediatric Endocrinology Inter-institute Training Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland 20892, USALaboratoire d'Hormonologie - CBPEGroupement Hospitalier Est, Hospices Civils de Lyon, 59 bd Pinel - 69677 Bron Cedex, FranceUniversité Catholique de LouvainPole d'endocrinologie, diabete et nutrition (EDIN), Brussels, BelgiumDepartment of NeurosurgeryUniversité Catholique de Louvain, Brussels, Belgium.

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http://dx.doi.org/10.1530/ERC-15-0478DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6300999PMC
March 2016

Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients.

Endocr Relat Cancer 2015 Oct 17;22(5):745-57. Epub 2015 Jul 17.

Departments of Endocrinology and Human GeneticsCentre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, BelgiumClinical Center of Endocrinology and GerontologyMedical University, Sofia, BulgariaDepartment of EndocrinologyKing Edward Memorial Hospital, Mumbai, IndiaAssistance Publique-Hôpitaux de ParisHôpitaux Universitaires Paris-Sud, Service d'Endocrinologie et des Maladies de la Reproduction et Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Le Kremlin-Bicêtre F-94275, FranceUMR S1185Univ Paris-Sud, F-94276 Le Kremlin-Bicêtre, FranceINSERM U1185Faculté de Médecine Paris-Sud, F-94276 Le Kremlin-Bicêtre, FranceServicio de Endocrinología y NutriciónHospital Universitario La Paz, Madrid, SpainSection on Endocrinology and GeneticsProgram on Developmental Endocrinology & Genetics & Pediatric Endocrinology Inter-Institute Training Program, Eunice Kennedy Shriver National Institute of Child Health & Human Development, National Institutes of Health (NIH), Bethesda, Maryland 20892, USADivision of EndocrinologyDepartment of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USADepartment of EndocrinologyGreenlane Clinical Centre, Auckland, New ZealandSection of EndocrinologyDepartment of Internal Medicine, Erasmus Medical Centre, Rotterdam, The NetherlandsSection of Endocrinology and Internal MedicineDepartment of Medical Sciences, University of Ferrara, Via Savonarola 9, 44121 Ferrara, ItalyServicio de EndocrinologíaHospital Universitario Puerta De Hierro, Majadahonda, Madrid, SpainService d'endocrinologie-diabétologieCentre Hospitalier Lucien Hussel, Montée du Docteur Chapuis BP127, 38 209 Vienne cedex, FranceMurdoch Children's Research InstituteRoyal Children's Hospital, University of Melbourne, Parkville, Victoria, AustraliaDepartments of Internal Medicine and PediatricsOulu University Hospital, University of Oulu, Oulu, FinlandDepartments of Neuroen

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http://dx.doi.org/10.1530/ERC-15-0320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6533620PMC
October 2015

Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.

J Inherit Metab Dis 2015 Nov 14;38(6):1147-53. Epub 2015 May 14.

Division of Pediatric Neurology and Metabolism, Department of Pediatrics, Gent University Hospital, Gent, Belgium.

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http://dx.doi.org/10.1007/s10545-015-9857-1DOI Listing
November 2015

Pattern of congenital heart diseases in Rwandan children with genetic defects.

Pan Afr Med J 2014 25;19:85. Epub 2014 Sep 25.

Center for Medical Genetics, School of Medicine and Health Sciences, University of Rwanda, Huye, Rwanda ; Department of Clinical Genetics, Kigali University Teaching Hospital, University of Rwanda, Kigali, Rwanda.

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http://dx.doi.org/10.11604/pamj.2014.19.85.3428DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4335284PMC
October 2015

X-linked acrogigantism syndrome: clinical profile and therapeutic responses.

Endocr Relat Cancer 2015 Jun 24;22(3):353-67. Epub 2015 Feb 24.

Department of EndocrinologyCentre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, BelgiumProgram on Developmental Endocrinology and GeneticsSection on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1-3330, MSC1103, Bethesda, Maryland 20892-1862, USAHelmholtz Zentrum MünchenInstitute of Pathology, Neuherberg, GermanyDepartment of Molecular and Human GeneticsBaylor College of Medicine, Houston, Texas, USADepartment of Pediatric Endocrinology and DiabetesPrincess Margaret Hospital for Children, Subiaco, Western Australia, AustraliaDepartment of Clinical GeneticsCentre Hospitalier Universitaire de Liège, University of Liège, Liège, BelgiumEndocrinology and Diabetology UnitFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Department of Clinical Sciences and Community Health, University of Milan, Milan, ItalyDepartment of EndocrinologyUniversity of Brasilia, Brasilia, BrazilDepartment of Paediatric EndocrinologyRoyal Victoria Infirmary, Newcastle University, Newcastle upon Tyne, UKINSERM U 693GHU Paris-Sud - Hôpital de Bicêtre, 78 rue du Général Leclerc, 94270 Le Kremlin-Bicêtre, FrancePediatric Endocrinology UnitUniversité Catholique de Louvain, Bruxelles, BelgiumMater Medical Research InstituteUniversity of Queensland, Brisbane, Queensland, AustraliaDepartment of EndocrinologyKEM Hospital, Mumbai, IndiaEndocrinology and Diabetes UnitBC Children's Hospital, Vancouver, British Columbia, CanadaSection of EndocrinologyDepartment of Medical Sciences, University of Ferrara, Ferrara, ItalyService d'Anatomie et Cytologie PathologiquesHopital Foch, Suresnes, FranceINSERM Unité 1016Institut Cochin, Hopital Cochin, Université Paris Descartes, Paris, FranceInstitute of Pediatric EndocrinologyEndocrinological Research Centre, Moscow

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http://dx.doi.org/10.1530/ERC-15-0038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4433400PMC
June 2015

Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1.

Orphanet J Rare Dis 2014 Nov 26;9:174. Epub 2014 Nov 26.

Service de neurologie pédiatrique et des maladies métaboliques, Hôpital Robert Debré, Assistance Publique des Hôpitaux de Paris, 75019, Paris, France.

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http://dx.doi.org/10.1186/s13023-014-0174-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4302636PMC
November 2014

Genetic diagnosis of Duchenne and Becker muscular dystrophy using multiplex ligation-dependent probe amplification in Rwandan patients.

J Trop Pediatr 2014 Apr 7;60(2):112-7. Epub 2013 Nov 7.

Center for Medical Genetics, Department of Molecular Biology & Cytogenetics, Faculty of Medicine, National University of Rwanda, PO Box 30-Butare, Rwanda.

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http://dx.doi.org/10.1093/tropej/fmt090DOI Listing
April 2014

Partial trisomy 4q associated with young-onset dopa-responsive parkinsonism.

Arch Neurol 2012 Mar;69(3):398-400

MOVERE Group, Department of Neurology, University Hospital Center of Liège, and Cyclotron Research Center, University of Liège, Belgium.

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http://dx.doi.org/10.1001/archneurol.2011.802DOI Listing
March 2012

Surface Mucin-1 does not play a role in dendritic cell migration.

Mol Immunol 2009 Feb 25;46(4):738-42. Epub 2008 Oct 25.

Department of Internal Medicine, Division of Haematology, University Hospital Maastricht, Maastricht, The Netherlands.

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http://dx.doi.org/10.1016/j.molimm.2008.07.033DOI Listing
February 2009

Silencing of E7 oncogene restores functional E-cadherin expression in human papillomavirus 16-transformed keratinocytes.

Carcinogenesis 2008 Jul 19;29(7):1441-7. Epub 2008 Jun 19.

Department of Pathology, Groupe Interdisciplinaire de Génoprotéomique Appliquée-Cancer, B23, University of Liege, Centre Hospitalier Universitaire Sart Tilman, 4000 Liege, Belgium.

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http://dx.doi.org/10.1093/carcin/bgn145DOI Listing
July 2008

Increased migration of Langerhans cells in response to HPV16 E6 and E7 oncogene silencing: role of CCL20.

Cancer Immunol Immunother 2009 Jan 26;58(1):39-47. Epub 2008 Apr 26.

Department of Pathology, GIGA-Cancer, B35, University of Liege, CHU Sart Tilman, Liege, Belgium.

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http://dx.doi.org/10.1007/s00262-008-0522-5DOI Listing
January 2009

The cross-talk between dendritic and regulatory T cells: good or evil?

J Leukoc Biol 2007 Oct 25;82(4):781-94. Epub 2007 Jul 25.

Department of Pathology, CRCE-CBIG, B35, University of Liege, CHU of Liege, Liege, Belgium.

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http://dx.doi.org/10.1189/jlb.1106694DOI Listing
October 2007

MIP3 alpha stimulates the migration of Langerhans cells in models of human papillomavirus (HPV)-associated (pre)neoplastic epithelium.

Cancer Immunol Immunother 2007 Jul 5;56(7):1087-96. Epub 2006 Dec 5.

Department of Pathology, CRCE, B35, University of Liege, CHU Sart Tilman, 4000 Liege, Belgium.

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http://dx.doi.org/10.1007/s00262-006-0255-2DOI Listing
July 2007

Role of hormone cofactors in the human papillomavirus-induced carcinogenesis of the uterine cervix.

Mol Cell Endocrinol 2007 Jan 4;264(1-2):1-5. Epub 2006 Dec 4.

Department of Pathology, CRCE-CBIG, B35, University of Liege, CHU Sart Tilman, 4000 Liege, Belgium.

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http://dx.doi.org/10.1016/j.mce.2006.10.014DOI Listing
January 2007