David Genevieve

David Genevieve

UNVERIFIED PROFILE

Are you David Genevieve?   Register this Author

Register author
David Genevieve

David Genevieve

Publications by authors named "David Genevieve"

Are you David Genevieve?   Register this Author

94Publications

3958Reads

8Profile Views

Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group.

Eur J Hum Genet 2019 Nov 8;27(11):1692-1700. Epub 2019 Jul 8.

Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Université de Montpellier, CHU de Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-019-0433-2DOI Listing
November 2019

Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.

Clin Genet 2019 Oct 25;96(4):309-316. Epub 2019 Jun 25.

Department of Medical Genetics, Reference Center for Skeletal Dysplasia and OSCAR Network, Paris Descartes-Sorbonne Paris Cité University, INSERM UMR 1163, Instititut Imagine, Hôpital Necker Enfants Malades, Paris, France.

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13591
Publisher Site
http://dx.doi.org/10.1111/cge.13591DOI Listing
October 2019

Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations.

Mol Genet Genomic Med 2019 Sep 7:e00895. Epub 2019 Sep 7.

Service de Génétique Clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.895DOI Listing
September 2019

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report.

BMC Med Genomics 2019 08 2;12(1):116. Epub 2019 Aug 2.

Unité de Génétique Chromosomique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12920-019-0558-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679470PMC
August 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
April 2019

LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters.

Eur J Med Genet 2019 Mar 10;62(3):161-166. Epub 2018 Jul 10.

Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de Référence Anomalies du développement et Syndromes Malformatifs, Plateforme Recherche de Microremaniements Chromosomiques, CHU de Montpellier, Université de Montpellier, France; Unité Inserm, U1183, Hôpital Saint-Eloi, CHU de Montpellier, Montpellier, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2018.07.003DOI Listing
March 2019

[Problems posed by genetic diseases, concerning: chromosomal disorders, trisomy 21; genetic diseases, cystic fibrosis, DNA instability disorders: fragile X syndrome].

Rev Prat 2019 Feb;69(2):e47-e54

Département de génétique médicale, maladies rares et édecine personnalisée, centre de référence anomalies du développement et syndromes malformatifs, service de génétique clinique, hôpital Arnaud-de-Villeneuve, CHU de Montpellier, faculté de médecine Montpellier-Nîmes, université de Montpellier, montpellier, France.

View Article

Download full-text PDF

Source
February 2019

[Non-invasive prenatal screening].

Rev Prat 2019 Feb;69(2):e55

Département de génétique médicale, maladies rares et édecine personnalisée, centre de référence anomalies du développement et syndromes malformatifs, service de génétique clinique, hôpital Arnaud-de-Villeneuve, CHU de Montpellier, faculté de médecine Montpellier-Nîmes, université de Montpellier, montpellier, France.

View Article

Download full-text PDF

Source
February 2019

Unusual association of a unique CAG interruption in 5' of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism.

Hum Mutat 2018 07 19;39(7):970-982. Epub 2018 May 19.

Laboratory CTGDM, Inserm UMR1163, Paris, France; Institut Imagine, Université Paris-Descartes-Sorbonne Paris-Cité, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23531DOI Listing
July 2018

B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.

Genet Med 2018 02 3;20(2):269-274. Epub 2017 Aug 3.

Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Plateforme Recherche de Microremaniements Chromosomiques, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Faculté de Médecine Montpellier-Nîmes, Université de Montpellier, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2017.109DOI Listing
February 2018

Polymorphisms Associated with Rheumatoid Arthritis Susceptibility in Tunisian and French Female Populations: Influence of Geographic Origin.

J Immunol Res 2017 8;2017:4915950. Epub 2017 Feb 8.

Inserm, U 1183, Institute for Regenerative Medicine and Biotherapies, CHU Saint Eloi, 80 Avenue Augustin Fliche, 34295 Montpellier Cedex 5, France; University of Montpellier, Boulevard Henri IV, 34090 Montpellier, France; Clinical Department for Osteoarticular Diseases and Biotherapy, University Hospital Lapeyronie, 34295 Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2017/4915950DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5320318PMC
March 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

Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations.

Plast Reconstr Surg 2016 08;138(2):374e-6e

Department of Plastic and Craniofacial Pediatric Surgery, Department of Plastic and Reconstructive Surgery, and Department of Burns Department of Medical Genetics CHU Lapeyronie University of Montpellier Montpellier, France Department of Medical Genetics CHU Nantes University of Nantes Nantes, France Department of Plastic, Reconstructive and Aesthetic Surgery Rangueil Hospital Paul Sabatier University Toulouse, France Department of Plastic and Craniofacial Pediatric Surgery, Department of Plastic and Reconstructive Surgery, and Department of Burns CHU Lapeyronie, and Laboratory of Anatomy University of Montpellier Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/PRS.0000000000002381DOI Listing
August 2016

Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia.

Am J Med Genet A 2016 07 22;170(7):1895-8. Epub 2016 Apr 22.

CHU Toulouse, Service de Génétique Médicale, Hôpital Purpan, Toulouse, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37667DOI Listing
July 2016

Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling.

Am J Med Genet A 2016 Jan 11;170A(1):263-5. Epub 2015 Sep 11.

Laboratoire de génétique des maladies rares et auto-inflammatoires, CHRU, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37374DOI Listing
January 2016

Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.

Hum Mutat 2016 Jan 21;37(1):7-15. Epub 2015 Oct 21.

Laboratory of Rare and Autoinflammatory Diseases, CHRU, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22915DOI Listing
January 2016

Chromothripsis: potential origin in gametogenesis and preimplantation cell divisions. A review.

Fertil Steril 2014 Dec 18;102(6):1785-96. Epub 2014 Oct 18.

Laboratory of Chromosomal Genetics, Department of Medical Genetics, Arnaud de Villeneuve Hospital, Montpellier CHRU, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fertnstert.2014.09.006DOI Listing
December 2014

Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.

Genet Med 2014 Sep 6;16(9):720-4. Epub 2014 Mar 6.

1] Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, CHU de Hautepierre, Strasbourg, France [2] Laboratoire de Génétique Médicale, INSERM U1112, Faculté de Médecine, Université de Strasbourg, Strasbourg, France [3] Current affiliation: Service de Génétique, CHU la Réunion, Hôpital Félix Guyon, Saint-Denis, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2014.12DOI Listing
September 2014

Dysspondyloenchondromatosis without COL2A1 mutation: possible genetic heterogeneity.

Am J Med Genet A 2014 Mar 19;164A(3):769-73. Epub 2013 Dec 19.

Département de Génétique Médicale, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Languedoc Roussillon, CHRU Montpellier, Faculté de Médecine Université Montpellier 1, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36331DOI Listing
March 2014

[Chromothripsis, an unexpected novel form of complexity for chromosomal rearrangements].

Med Sci (Paris) 2014 Mar 31;30(3):266-73. Epub 2014 Mar 31.

Laboratoire de génétique chromosomique, hôpital Arnaud de Villeneuve, CHRU de Montpellier, 371, avenue du doyen Gaston Giraud, 34295 Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1051/medsci/20143003014DOI Listing
March 2014

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

Eur J Hum Genet 2014 Feb 15;22(2):289-92. Epub 2013 May 15.

Departement de Genetique Medicale, Centre de Reference Maladies Rares Anomalies du Developpement et Syndromes Malformatifs Sud-Languedoc Roussillon, Hopital Arnaud de Villeneuve CHRU Montpellier, Faculte de Medecine Universite Montpellier 1, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895633PMC
February 2014

Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling.

Eur J Hum Genet 2014 Jan 10;22(1):136-9. Epub 2013 Apr 10.

1] Département de Génétique Médicale, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Languedoc Roussillon, CHRU Montpellier, Faculté de Médecine Université Montpellier 1, Montpellier, France [2] Unité INSERM U844, Institut des Neurosciences de Montpellier, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.56DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865400PMC
January 2014

CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.

Am J Med Genet A 2014 Jan 20;164A(1):177-81. Epub 2013 Nov 20.

Département de Génétique Médicale, Centre Hospitalier Universitaire, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36166DOI Listing
January 2014

[Complex chromosomal rearrangements: a paradigm for the study of chromosomal instability].

Med Sci (Paris) 2014 Jan 24;30(1):55-63. Epub 2014 Jan 24.

Laboratoire de génétique chromosomique, hôpital Arnaud de Villeneuve, CHRU de Montpellier, 371, avenue du doyen Gaston Giraud, 34295 Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1051/medsci/20143001014DOI Listing
January 2014

IMPAD1 mutations in two Catel-Manzke like patients.

Am J Med Genet A 2012 Sep 6;158A(9):2183-7. Epub 2012 Aug 6.

Département de génétique, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35504DOI Listing
September 2012

Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay.

Eur J Hum Genet 2012 May 18;20(5):580-3. Epub 2012 Jan 18.

Département de Pédiatrie spécialisée, Unité de Néphrologie et Endocrinologie pédiatrique, CHRU Montpellier, Faculté de Médecine de Montpellier-Nîmes, Université Montpellier 1, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2011.243DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3330221PMC
May 2012

Genetic factors in isolated and syndromic esophageal atresia.

J Pediatr Gastroenterol Nutr 2011 May;52 Suppl 1:S6-8

Département de Génétique, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Languedoc Roussillon, Hôpital Arnaud de Villeneuve, CHRU Montpellier, Université Montpellier 1, Faculté de Médecine de Montpellier-Nimes, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MPG.0b013e318213316aDOI Listing
May 2011

Epiphyseal punctate calcifications (stippling) in complete trisomy 9.

Prenat Diagn 2009 Nov;29(11):1085-8

Service de Génétique Médicale et Chromosomique, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Languedoc Roussillon, Hôpital Arnaud de Villeneuve, CHRU Montpellier, Université Montpellier 1, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.2350DOI Listing
November 2009

GWA studies: rewriting the story of IBD.

Trends Genet 2009 Mar 13;25(3):137-46. Epub 2009 Feb 13.

Université de Montréal and the Montreal Heart Institute, Research Center, 5000 rue Belanger, Montreal, Quebec H1T 1C8, Canada.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S01689525090002
Publisher Site
http://dx.doi.org/10.1016/j.tig.2009.01.001DOI Listing
March 2009

Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).

Nat Genet 2008 Mar 10;40(3):284-6. Epub 2008 Feb 10.

Département de Génétique, Unité INSERM U781, Université Paris Descartes, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75015 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.2007.66DOI Listing
March 2008

Clinical and molecular variability in congenital dyserythropoietic anaemia type I.

Br J Haematol 2005 Aug;130(4):628-34

Paediatric Haematology Laboratory, Felsenstein Medical Research Centre, Beilinson Campus, Petah Tiqva and Sackler Faculty of Medicine, Tel Aviv University, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1365-2141.2005.05642.xDOI Listing
August 2005

Familial Mediterranean fever among patients from Karabakh and the diagnostic value of MEFV gene analysis in all classically affected populations.

Arthritis Rheum 2003 Aug;48(8):2324-31

Service de Biochimie et de Génétique Moléculaire, INSERM (Unité 468), Hôpital Henri-Mondor, 51 Avenue du Maréchal de-Lattre-de-Tassigny, Créteil F-94010, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/art.11102DOI Listing
August 2003