Bruno Leheup

Bruno Leheup

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Bruno Leheup

Bruno Leheup

Publications by authors named "Bruno Leheup"

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Nutrigenomics and RNA methylation: Role of micronutrients.

Biochimie 2019 Sep 11;164:53-59. Epub 2019 Jul 11.

Université de Lorraine, INSERM, NGERE, F-54000, Nancy, France. Electronic address:

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http://dx.doi.org/10.1016/j.biochi.2019.07.008DOI Listing
September 2019

Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway.

Hum Genet 2019 Jul 28;138(7):703-713. Epub 2019 May 28.

INSERM U1256, NGERE-Nutrition, Genetics, and Environmental Risk Exposure, Faculty of Medicine of Nancy, University of Lorraine, 54000, Nancy, Vandoeuvre-lès-Nancy, France.

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http://dx.doi.org/10.1007/s00439-019-02015-7DOI Listing
July 2019

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.

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

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.

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

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

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

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.

J Med Genet 2016 Feb 26;53(2):98-110. Epub 2015 Oct 26.

Centre de Référence des Manifestations Odontologiques des Maladies Rares, Pôle de Médecine et Chirurgie Bucco-dentaires, Hôpitaux Universitaires de Strasbourg (HUS), Strasbourg, France Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France Institut de Génétique et de Biologie Moléculaire and Cellulaire-Centre Européen de Recherche en Biologie et en Médecine, CNRS UMR7104, INSERM U964 Université de Strasbourg, Illkirch, France.

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http://dx.doi.org/10.1136/jmedgenet-2015-103302DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4752661PMC
February 2016

Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.

Hum Mol Genet 2016 Feb 26;25(3):472-83. Epub 2015 Nov 26.

Inserm UMRS933, Hôpital Trousseau, Sorbonne Universités, UPMC Univ Paris, 26 Avenue du Dr Netter, Paris 75012, France, Service de Génétique et d'Embryologie Médicales, Assistance Publique-Hôpitaux de Paris, Hôpital Armand Trousseau, Paris, France.

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http://dx.doi.org/10.1093/hmg/ddv486DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5007599PMC
February 2016

McCune-Albright syndrome, natural history and multidisciplinary management in a series of 14 pediatric cases.

Ann Endocrinol (Paris) 2016 Feb 2;77(1):7-13. Epub 2016 Feb 2.

University of Lorraine, University Hospital of Nancy, Department of Pediatrics and Medical Genetics, rue du Morvan, 54500 Vandœuvre-lès-Nancy, France; University of Lorraine, University Hospital of Nancy, Competence Medical Center for rare endocrine diseases, rue du Morvan, 54500 Vandœuvre-lès-Nancy, France.

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http://dx.doi.org/10.1016/j.ando.2016.01.002DOI Listing
February 2016

Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome.

Hum Mol Genet 2015 Jan 8;24(2):463-70. Epub 2014 Sep 8.

INSERM U827, Montpellier F-34000, France Université Montpellier I, Montpellier F-34000, France Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire (CHU) Montpellier, Montpellier F-34000, France Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964/CNRS UMR7104/Université de Strasbourg, Illkirch, France

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http://hmg.oxfordjournals.org/content/early/2014/09/08/hmg.d
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddu461
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http://dx.doi.org/10.1093/hmg/ddu461DOI Listing
January 2015

Late onset epileptic spasms is frequent in MECP2 gene duplication: electroclinical features and long-term follow-up of 8 epilepsy patients.

Eur J Paediatr Neurol 2014 Jul 26;18(4):475-81. Epub 2014 Mar 26.

APHP, Hôpital Robert Debré, Service de Neurologie Pédiatrique, 75019 Paris, France; Inserm, U676, 75019 Paris, France; Univ Paris Diderot, Sorbonne Paris Cité, INSERM UMR676, 75019 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2014.03.005DOI Listing
July 2014

Extended spectrum of MBD5 mutations in neurodevelopmental disorders.

Eur J Hum Genet 2013 Dec 20;21(12):1457-61. Epub 2013 Feb 20.

Laboratoire de Génétique, EA 4368, Université de Lorraine, Centre Hospitalier Universitaire de Nancy, Vandoeuvre les Nancy, France.

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http://www.nature.com/articles/ejhg201322
Publisher Site
http://dx.doi.org/10.1038/ejhg.2013.22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3831065PMC
December 2013

De novo complex X chromosome rearrangement unmasking maternally inherited CSF2RA deletion in a girl with pulmonary alveolar proteinosis.

Am J Med Genet A 2013 Oct 5;161A(10):2594-9. Epub 2013 Aug 5.

Laboratoire de Génétique Médicale, Centre Hospitalier Universitaire de Nancy, Vandoeuvre-les-Nancy, France; Service de Médecine Infantile 3 et Génétique Clinique, Centre Hospitalier Universitaire de Nancy, Vandoeuvre-les-Nancy, France.

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http://dx.doi.org/10.1002/ajmg.a.36097DOI Listing
October 2013

Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: two newly recognized patients with premature aging syndrome, Penttinen type.

Am J Med Genet A 2013 Jul 29;161A(7):1786-91. Epub 2013 May 29.

Université Paris Descartes, Département de Génétique et INSERM U781, Centre de référence Maladies osseuses constitutionnelles, AP-HP, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.35984DOI Listing
July 2013

Clinical audit concerning the quality of management in patients with classic form of congenital adrenal hyperplasia.

Ann Endocrinol (Paris) 2013 Feb 26;74(1):13-26. Epub 2013 Jan 26.

Service d'endocrinologie adulte, CHU Brabois, 11, rue du morvan, 54500 Vandœuvre-lès-Nancy, France.

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https://linkinghub.elsevier.com/retrieve/pii/S00034266120119
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http://dx.doi.org/10.1016/j.ando.2012.10.003DOI Listing
February 2013

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Hum Mutat 2012 Jun 4;33(6):949-59. Epub 2012 Apr 4.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964/CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, France.

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http://dx.doi.org/10.1002/humu.22067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374402PMC
June 2012

Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines).

Am J Med Genet A 2012 Jun 23;158A(6):1406-10. Epub 2012 Apr 23.

Centre de Référence Syndromes Malformatifs et Anomalies du Développement, Service de Médecine Infantile III et Génétique Clinique, CHU de Nancy et PRES de l'Université de Lorraine, UHP, Nancy, France.

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http://dx.doi.org/10.1002/ajmg.a.35329DOI Listing
June 2012

A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype.

Ophthalmic Genet 2011 Nov 5;32(4):250-5. Epub 2011 Jul 5.

Centre de Référence pour les Affections Rares en Génétique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.3109/13816810.2011.592176DOI Listing
November 2011

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Authors:
Sébastien Jacquemont Alexandre Reymond Flore Zufferey Louise Harewood Robin G Walters Zoltán Kutalik Danielle Martinet Yiping Shen Armand Valsesia Noam D Beckmann Gudmar Thorleifsson Marco Belfiore Sonia Bouquillon Dominique Campion Nicole de Leeuw Bert B A de Vries Tõnu Esko Bridget A Fernandez Fernando Fernández-Aranda José Manuel Fernández-Real Mònica Gratacòs Audrey Guilmatre Juliane Hoyer Marjo-Riitta Jarvelin R Frank Kooy Ants Kurg Cédric Le Caignec Katrin Männik Orah S Platt Damien Sanlaville Mieke M Van Haelst Sergi Villatoro Gomez Faida Walha Bai-Lin Wu Yongguo Yu Azzedine Aboura Marie-Claude Addor Yves Alembik Stylianos E Antonarakis Benoît Arveiler Magalie Barth Nathalie Bednarek Frédérique Béna Sven Bergmann Mylène Beri Laura Bernardini Bettina Blaumeiser Dominique Bonneau Armand Bottani Odile Boute Han G Brunner Dorothée Cailley Patrick Callier Jean Chiesa Jacqueline Chrast Lachlan Coin Charles Coutton Jean-Marie Cuisset Jean-Christophe Cuvellier Albert David Bénédicte de Freminville Bruno Delobel Marie-Ange Delrue Bénédicte Demeer Dominique Descamps Gérard Didelot Klaus Dieterich Vittoria Disciglio Martine Doco-Fenzy Séverine Drunat Bénédicte Duban-Bedu Christèle Dubourg Julia S El-Sayed Moustafa Paul Elliott Brigitte H W Faas Laurence Faivre Anne Faudet Florence Fellmann Alessandra Ferrarini Richard Fisher Elisabeth Flori Lukas Forer Dominique Gaillard Marion Gerard Christian Gieger Stefania Gimelli Giorgio Gimelli Hans J Grabe Agnès Guichet Olivier Guillin Anna-Liisa Hartikainen Délphine Heron Loyse Hippolyte Muriel Holder Georg Homuth Bertrand Isidor Sylvie Jaillard Zdenek Jaros Susana Jiménez-Murcia Géraldine Joly Helas Philippe Jonveaux Satu Kaksonen Boris Keren Anita Kloss-Brandstätter Nine V A M Knoers David A Koolen Peter M Kroisel Florian Kronenberg Audrey Labalme Emilie Landais Elisabetta Lapi Valérie Layet Solenn Legallic Bruno Leheup Barbara Leube Suzanne Lewis Josette Lucas Kay D MacDermot Pall Magnusson Christian Marshall Michèle Mathieu-Dramard Mark I McCarthy Thomas Meitinger Maria Antonietta Mencarelli Giuseppe Merla Alexandre Moerman Vincent Mooser Fanny Morice-Picard Mafalda Mucciolo Matthias Nauck Ndeye Coumba Ndiaye Ann Nordgren Laurent Pasquier Florence Petit Rolph Pfundt Ghislaine Plessis Evica Rajcan-Separovic Gian Paolo Ramelli Anita Rauch Roberto Ravazzolo Andre Reis Alessandra Renieri Cristobal Richart Janina S Ried Claudine Rieubland Wendy Roberts Katharina M Roetzer Caroline Rooryck Massimiliano Rossi Evald Saemundsen Véronique Satre Claudia Schurmann Engilbert Sigurdsson Dimitri J Stavropoulos Hreinn Stefansson Carola Tengström Unnur Thorsteinsdóttir Francisco J Tinahones Renaud Touraine Louis Vallée Ellen van Binsbergen Nathalie Van der Aa Catherine Vincent-Delorme Sophie Visvikis-Siest Peter Vollenweider Henry Völzke Anneke T Vulto-van Silfhout Gérard Waeber Carina Wallgren-Pettersson Robert M Witwicki Simon Zwolinksi Joris Andrieux Xavier Estivill James F Gusella Omar Gustafsson Andres Metspalu Stephen W Scherer Kari Stefansson Alexandra I F Blakemore Jacques S Beckmann Philippe Froguel

Nature 2011 Aug 31;478(7367):97-102. Epub 2011 Aug 31.

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1038/nature10406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637175PMC
August 2011

Primary amenorrhea in four adolescents revealed 5α-reductase deficiency confirmed by molecular analysis.

Fertil Steril 2011 Feb 20;95(2):804.e1-5. Epub 2010 Sep 20.

Service d'Hormonologie, Hôpital Lapeyronie, CHU Montpellier, and UMI Montpellier, Montpellier, France.

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http://dx.doi.org/10.1016/j.fertnstert.2010.08.007DOI Listing
February 2011

Ovarian tissue cryopreservation and subsequent spontaneous pregnancies in a patient with classic galactosemia.

Fertil Steril 2011 Jan;95(1):290.e1-3

INSERM U954, Nutrition, Genetics, and Environmental Risk Exposure, Nancy University Medical School, and Department of Pediatrics and Clinical Genetics, University Hospital of Nancy, Vandoeuvre lès Nancy, France.

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http://dx.doi.org/10.1016/j.fertnstert.2010.06.014DOI Listing
January 2011

Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication.

Am J Med Genet A 2010 Aug;152A(8):1933-41

Service de Médecine Infantile III et Génétique Clinique, Centre de référence Anomalies du développement et Syndromes malformatifs, Centre Hospitalier Universitaire de Nancy, Nancy-Université Henri Poincaré, Vandoeuvre les Nancy, France.

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http://dx.doi.org/10.1002/ajmg.a.33521DOI Listing
August 2010

SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.

Eur J Hum Genet 2009 Oct 8;17(10):1216-21. Epub 2009 Apr 8.

Service de Médecine Infantile III et Génétique Clinique, Hôpital d'Enfants CHU de Nancy, Faculté de Médecine Nancy Université Henri Poincaré, Vandoeuvre, France.

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http://dx.doi.org/10.1038/ejhg.2009.44DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986637PMC
October 2009

Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism.

J Clin Endocrinol Metab 2008 Sep 26;93(9):3568-76. Epub 2008 Jun 26.

Endocrine Unit, Massachusetts General Hospital, Thier 1051, 55 Fruit Street, Boston, Massachusetts 02114, USA.

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http://dx.doi.org/10.1210/jc.2007-2167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2567849PMC
September 2008

Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions.

Eur J Hum Genet 2008 Aug 14;16(8):1014-8. Epub 2008 May 14.

Laboratoire de Génétique, Centre Hospitalier Universitaire de Nancy Brabois, Nancy Université, EA4002, France.

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http://dx.doi.org/10.1038/ejhg.2008.89DOI Listing
August 2008

NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement.

Neuromuscul Disord 2007 Feb 4;17(2):163-8. Epub 2006 Dec 4.

Département de Neurologie, Hôpital Civil de Strasbourg, 1 Place de l'Hôpital, BP426, 67091 Strasbourg, France.

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http://dx.doi.org/10.1016/j.nmd.2006.10.002DOI Listing
February 2007

Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.

Brain Dev 2006 May 20;28(4):232-42. Epub 2005 Dec 20.

Unité de Neurologie Pédiatrique, Service de Pédiatrie, Rééducation et Réanimation Neurorespiratoire, Hôpital Raymond Poincaré, 92380, Garches, France.

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http://dx.doi.org/10.1016/j.braindev.2005.08.003DOI Listing
May 2006

Noonan syndrome: relationships between genotype, growth, and growth factors.

J Clin Endocrinol Metab 2006 Jan 1;91(1):300-6. Epub 2005 Nov 1.

Department of Pediatrics, University Hospital, 49933 Angers, France.

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http://dx.doi.org/10.1210/jc.2005-0983DOI Listing
January 2006

A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia.

J Clin Endocrinol Metab 2005 Sep 28;90(9):5304-8. Epub 2005 Jun 28.

Biochimie Endocrinienne et Moléculaire, Hopital Debrousse, 29 Rue Soeur Bouvier, F-69322 Lyon Cedex 05, France.

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http://dx.doi.org/10.1210/jc.2005-0874DOI Listing
September 2005

Effect of age at thyroid stimulating hormone normalization on postural control in children with congenital hypothyroidism.

Dev Med Child Neurol 2004 Feb;46(2):107-13

Balance Control and Motor Performance Laboratory, UFR STAPS, Université Henri Poincaré--Nancy 1, Villers-lès-Nancy, France.

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http://dx.doi.org/10.1017/s0012162204000210DOI Listing
February 2004

Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease.

J Clin Endocrinol Metab 2002 Sep;87(9):4324-9

Service des Maladies Endocriniennes et Métaboliques, Centre Hospitalier Universitaire (CHU) Cochin, Paris 75014, France.

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http://dx.doi.org/10.1210/jc.2002-020592DOI Listing
September 2002