Publications by authors named "Eric Bieth"

69Publications

Genetics of the congenital absence of the vas deferens.

Hum Genet 2020 Feb 5. Epub 2020 Feb 5.

EA3694 (Groupe de Recherche en Fertilité Humaine), Université Toulouse III, 31059, Toulouse, France.

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http://dx.doi.org/10.1007/s00439-020-02122-wDOI Listing
February 2020

Male partners of infertile couples with congenital unilateral absence of the vas deferens are mainly non-azoospermic.

Andrology 2020 05 7;8(3):645-653. Epub 2020 Jan 7.

Groupe de Recherche en Fertilité Humaine (Human Fertility Research Group), EA3694, Université Toulouse III - Paul Sabatier, Toulouse, France.

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http://dx.doi.org/10.1111/andr.12749DOI Listing
May 2020

Novel ADGRG2 truncating variants in patients with X-linked congenital absence of vas deferens.

Andrology 2020 05 26;8(3):618-624. Epub 2019 Dec 26.

Service de Génétique Médicale, Centre Hospitalier Universitaire, Toulouse, France.

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http://dx.doi.org/10.1111/andr.12744DOI Listing
May 2020

Pulmonary Alveolar Microlithiasis in Children Less than 5 Years of Age.

J Pediatr 2020 02 21;217:158-164.e1. Epub 2019 Nov 21.

Children Hospital, Pediatric Pulmonology and Allergology Unit CHU Toulouse, Toulouse, France; Woman-Mother-Child, Service of Pediatrics, Pediatric Pulmonology Unit, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.

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http://dx.doi.org/10.1016/j.jpeds.2019.10.014DOI Listing
February 2020

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

Authors:
Karim Wahbi Rabah Ben Yaou Estelle Gandjbakhch Frédéric Anselme Thomas Gossios Neal K Lakdawala Caroline Stalens Frédéric Sacher Dominique Babuty Jean-Noel Trochu Ghassan Moubarak Kostantinos Savvatis Raphaël Porcher Pascal Laforêt Abdallah Fayssoil Eloi Marijon Tanya Stojkovic Anthony Béhin Sarah Leonard-Louis Guilhem Sole Fabien Labombarda Pascale Richard Corinne Metay Susana Quijano-Roy Ivana Dabaj Didier Klug Marie-Christine Vantyghem Philippe Chevalier Pierre Ambrosi Emmanuelle Salort Nicolas Sadoul Xavier Waintraub Khadija Chikhaoui Philippe Mabo Nicolas Combes Philippe Maury Jean-Marc Sellal Usha B Tedrow Jonathan M Kalman Jitendra Vohra Alexander F A Androulakis Katja Zeppenfeld Tina Thompson Christine Barnerias Henri-Marc Bécane Eric Bieth Franck Boccara Damien Bonnet Françoise Bouhour Stéphane Boulé Anne-Claire Brehin Françoise Chapon Pascal Cintas Jean-Marie Cuisset Jean-Marc Davy Annachiara De Sandre-Giovannoli Florence Demurger Isabelle Desguerre Klaus Dieterich Julien Durigneux Andoni Echaniz-Laguna Romain Eschalier Ana Ferreiro Xavier Ferrer Christine Francannet Mélanie Fradin Bénédicte Gaborit Arnaud Gay Albert Hagège Arnaud Isapof Isabelle Jeru Raul Juntas Morales Emmanuelle Lagrue Nicolas Lamblin Olivier Lascols Vincent Laugel Arnaud Lazarus France Leturcq Nicolas Levy Armelle Magot Véronique Manel Raphaël Martins Michèle Mayer Sandra Mercier Christophe Meune Maud Michaud Marie-Christine Minot-Myhié Antoine Muchir Aleksandra Nadaj-Pakleza Yann Péréon Philippe Petiot Florence Petit Julien Praline Anne Rollin Pascal Sabouraud Catherine Sarret Stéphane Schaeffer Frederic Taithe Céline Tard Vincent Tiffreau Annick Toutain Camille Vatier Ulrike Walther-Louvier Bruno Eymard Philippe Charron Corinne Vigouroux Gisèle Bonne Saurabh Kumar Perry Elliott Denis Duboc

Circulation 2019 07 3;140(4):293-302. Epub 2019 Jun 3.

APHP, Cochin Hospital, Cardiology Department, FILNEMUS, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile de France, Paris-Descartes, Sorbonne Paris Cité University (K.W., D.D.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.118.039410DOI Listing
July 2019

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Am J Hum Genet 2019 02 10;104(2):213-228. Epub 2019 Jan 10.

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA; Institute of Mother and Child, 01-211 Warsaw, Poland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183046
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http://dx.doi.org/10.1016/j.ajhg.2018.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369446PMC
February 2019

A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes.

J Mol Diagn 2018 07 21;20(4):533-549. Epub 2018 May 21.

Molecular Diagnostic Laboratory, Centre Hospitalier Universitaire Montpellier, Montpellier, France; AOC (Atlantique-Occitanie-Caraïbe) Reference Center for Neuromuscular Disorders, Aquitaine, France; Rare Diseases Genetics Laboratory, Equipe Accueil EA7402, Université de Montpellier, Montpellier, France. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2018.04.001DOI Listing
July 2018

Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome.

Orphanet J Rare Dis 2017 06 28;12(1):118. Epub 2017 Jun 28.

Endocrinology, Obesity, Bone Diseases, Genetics and Gynecology Unit, Children's Hospital, University Hospital Center of Toulouse, 330, avenue de Grande-Bretagne, TSA 40031 - 31059, Toulouse cedex 9, France.

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http://dx.doi.org/10.1186/s13023-017-0673-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5490212PMC
June 2017

Fibroblast Growth Factor Receptor 3 Epidermal Naevus Syndrome with Urothelial Mosaicism for the Activating p.Ser249Cys FGFR3 Mutation.

Acta Derm Venereol 2017 03;97(3):402-403

Department of Dermatology, University of Montpellier I, Hôpital Saint-Eloi, CHU de Montpellier, 80, avenue Augustin Fliche, FR-34295 Montpellier, France.

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https://www.medicaljournals.se/acta/content/abstract/10.2340
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http://dx.doi.org/10.2340/00015555-2554DOI Listing
March 2017

Effect of Genotype and Previous GH Treatment on Adiposity in Adults With Prader-Willi Syndrome.

J Clin Endocrinol Metab 2016 12 23;101(12):4895-4903. Epub 2016 Sep 23.

Assistance Publique-Hôpitaux de Paris (M.C., J.-M.O., K.C., C.P.), Pitié-Salpêtrière Hospital, Nutrition Department, French Reference Centre for Prader-Willi Syndrome, and Institute of Cardiometabolism and Nutrition (J.-M.O., K.C., C.P.), Sorbonne University, Université Pierre et Marie Curie, Unité Mixte de Recherche 1166, Nutriomic Team Pitié-Salpêtrière Hospital, Paris F-75013, France; Department of Endocrinology, Bone Diseases, Genetics, and Gynaecology (M.T.), Children's Hospital, French Reference Centre for Prader-Willi Syndrome, Toulouse F-31059 France and Université Paul Sabatier, Toulouse III F-31062, France; Inserm (M.T.), 1043 Team 12, Human Physiopathology Centre, and Department of Medical Genetics (E.B.), Purpan Hospital, Toulouse F-31059, France; Assistance Publique-Hôpitaux de Paris (L.C.), Laboratory of Biochemistry and Molecular Genetics, Institut Cochin and Cochin Hospital, Université Paris Descartes, Paris F-75014, France; Assistance Publique-Hôpitaux de Paris (V.L.), French Reference Center for Prader-Willi Syndrome, Hôpital Marin d'Hendaye, Hendaye F-64701, France; and Assistance Publique-Hôpitaux de Paris (J.-M.L.), Pitié-Salpêtrière Hospital, Department of Endocrine and Oncology Biochemistry, Paris F-75013 France.

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http://dx.doi.org/10.1210/jc.2016-2163DOI Listing
December 2016

[Prader-Willi syndrome in 2015].

Med Sci (Paris) 2015 Oct 19;31(10):853-60. Epub 2015 Oct 19.

Génétique médicale, hôpital Purpan, CHU de Toulouse, France.

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http://dx.doi.org/10.1051/medsci/20153110011DOI Listing
October 2015

Proteus syndrome: Report of a case with AKT1 mutation in a dental cyst.

Eur J Med Genet 2015 May 14;58(5):300-4. Epub 2015 Mar 14.

University Paul Sabatier, Toulouse III, France; Department of Paediatric Dentistry, CHU of Toulouse, Toulouse, France; LU 51, Faculty of Dentistry, Toulouse, France.

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http://dx.doi.org/10.1016/j.ejmg.2015.02.008DOI Listing
May 2015

Multi-physiopathological consequences of the c.1392G>T CFTR mutation revealed by clinical and cellular investigations.

Biochem Cell Biol 2015 Feb 17;93(1):28-37. Epub 2014 Sep 17.

a Génétique de Maladies Rares, Pôle Biologie Santé, TSA51106, Université de Poitiers, 86073 Poitiers cedex 9, France.

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http://dx.doi.org/10.1139/bcb-2014-0042DOI 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

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

Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome.

Eur J Hum Genet 2015 Feb 11;23(2):252-5. Epub 2014 Jun 11.

1] Centre de Physiopathologie de Toulouse-Purpan, INSERM UMR 1043; CNRS UMR 5282, Université Paul Sabatier, Toulouse, France [2] Centre de Référence du Syndrome de Prader-Willi, Toulouse, France [3] Unité d'Endocrinologie, Hôpital des Enfants, CHU de Toulouse, Toulouse, France.

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http://dx.doi.org/10.1038/ejhg.2014.103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297892PMC
February 2015

Lethal form of keratitis-ichthyosis-deafness syndrome caused by the GJB2 mutation p.Ser17Phe.

Acta Derm Venereol 2014 Sep;94(5):591-2

Reference Center for Rare Skin Disease, CHU Larrey, Paul Sabatier University, Toulouse, France.

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http://dx.doi.org/10.2340/00015555-1818DOI Listing
September 2014

Distal 10q monosomy: new evidence for a neurobehavioral condition?

Eur J Med Genet 2014 Jan 23;57(1):47-53. Epub 2013 Nov 23.

Service de Génétique Médicale, Hôpital Purpan, Place du Dr Baylac, 31300 Toulouse, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212130025
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http://dx.doi.org/10.1016/j.ejmg.2013.11.002DOI Listing
January 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:

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

Consequences of partial duplications of the human CFTR gene on cf diagnosis: mutations or ectopic variations.

J Cyst Fibros 2013 Jul 21;12(4):407-10. Epub 2012 Dec 21.

Institut de Physiologie et Biologie Cellulaires, CNRS FRE 3511, Université de Poitiers, 86022 Poitiers, France.

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http://dx.doi.org/10.1016/j.jcf.2012.11.006DOI Listing
July 2013

CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes.

Hum Mutat 2012 Nov 2;33(11):1557-65. Epub 2012 Jul 2.

Institut de Physiologie et Biologie Cellulaires, Centre National de la Recherche Scientifique Formation de Recherche en Evolution FRE 3511, Université de Poitiers, Poitiers, France.

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http://dx.doi.org/10.1002/humu.22129DOI Listing
November 2012

Branchi-oculo-facial syndrome: a case report to highlight recent genetic considerations.

J Plast Reconstr Aesthet Surg 2012 Nov 24;65(11):1573-5. Epub 2012 Apr 24.

Surgical Department of Children's Hospital of Toulouse, 330, Avenue de Grande Bretagne, TSA 70034, 31059 Toulouse Cedex 9, France.

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http://dx.doi.org/10.1016/j.bjps.2012.03.045DOI Listing
November 2012

A cardio-neurological form of laminopathy: dilated cardiomyopathy with permanent partial atrial standstill and axonal neuropathy.

Pacing Clin Electrophysiol 2009 Mar;32(3):410-5

Unité Rythmologie et Stimulation Cardiaque, CHU Rangueil, 1 Avenue Jean Poulhés-TSA 50032-31059 Toulouse Cedex 9, France.

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http://doi.wiley.com/10.1111/j.1540-8159.2008.02254.x
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http://dx.doi.org/10.1111/j.1540-8159.2008.02254.xDOI Listing
March 2009

Hypophosphatasia may lead to bone fragility: don't miss it.

Eur J Pediatr 2009 Jul 26;168(7):783-8. Epub 2008 Sep 26.

Endocrinologie, Maladies Osseuses, Génétique et Gynécologie Médicale, Hôpital des Enfants, CHU de Toulouse, Toulouse Cedex 9, France.

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http://dx.doi.org/10.1007/s00431-008-0835-6DOI Listing
July 2009

A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy.

Eur J Hum Genet 2007 Oct 4;15(10):1054-62. Epub 2007 Jul 4.

Department of Genetics, Rouen University Hospital and INSERM U614, Institute for Biomedical Research, University of Rouen, Rouen, France.

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http://dx.doi.org/10.1038/sj.ejhg.5201885DOI Listing
October 2007

Ovarian dysgerminoma and Apert syndrome.

Pediatr Blood Cancer 2008 Mar;50(3):696-8

Laboratory of Solid Tumors Genetics, Nice University Hospital and CNRS UMR 6543, Faculty of Medicine, Nice, France.

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http://dx.doi.org/10.1002/pbc.21156DOI Listing
March 2008

The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre.

Neuromuscul Disord 2004 Oct;14(10):650-8

Laboratoire de Génétique Moleculaire et Chromosomique, Institut Universitaire de Recherche Clinique (IURC), CHU de Montpellier, 641 avenue du Doyen G. Giraud, 34093 Montpellier Cedex 5, France.

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http://dx.doi.org/10.1016/j.nmd.2004.05.002DOI Listing
October 2004

Donnai-Barrow syndrome: four additional patients.

Am J Med Genet A 2003 Sep;121A(3):258-62

Service de génétique médicale, Hôpital Purpan, Toulouse, France.

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http://dx.doi.org/10.1002/ajmg.a.20266DOI Listing
September 2003

Identification of a region critical for proteolysis of the human growth hormone receptor.

Biochem Biophys Res Commun 2002 Jan;290(2):851-7

Centre de Recherche sur la Croissance (CRC), Pavillon Leriche, Hôpital Purpan, Place du Dr. Baylac, Toulouse cedex, 31059, France.

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http://dx.doi.org/10.1006/bbrc.2001.6261DOI Listing
January 2002