Damien Sanlaville

Damien Sanlaville

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Damien Sanlaville

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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.

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

A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset.

Eur J Med Genet 2019 Jul 15:103726. Epub 2019 Jul 15.

Department of Genetics, Groupement Hospitalier Est, Hospices Civils de Lyon, France; INSERM U1028, CNRS UMR5292, GENDEV Team, Neurosciences Research Center of Lyon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103726DOI Listing
July 2019

Comment on "Trisomy 21 noninvasive prenatal testing for twin pregnancies".

Prenat Diagn 2019 Jun 20;39(7):571-572. Epub 2019 May 20.

Twin Pregnancy Unit, Hôpital Femme Mère Enfants, Hospices Civils de Lyon, Lyon, France.

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http://dx.doi.org/10.1002/pd.5456DOI Listing
June 2019

Regressive Autism Spectrum Disorder Expands the Phenotype of BSCL2/Seipin-Associated Neurodegeneration.

Biol Psychiatry 2019 02 24;85(4):e17-e19. Epub 2018 Aug 24.

GENDEV, Centre de Recherche en Neurosciences de Lyon, UMR 529, Centre National de la Recherche Scientifique, Institut National de la Santé et de la Recherche Médicale U1028, Université Claude Bernard Lyon 1, Lyon, France; HCL, Department of Genetics, Reference Center for Developmental Anomalies and Malformation Syndromes, Oullins, France.

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https://linkinghub.elsevier.com/retrieve/pii/S00063223183152
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http://dx.doi.org/10.1016/j.biopsych.2018.05.010DOI Listing
February 2019

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

Am J Hum Genet 2019 Feb 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

Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?

Eur J Paediatr Neurol 2018 Nov 21;22(6):1124-1132. Epub 2018 Jul 21.

Department of Medical Genetics, Lyon University Hospital, Lyon, France; Claude Bernard Lyon 1 University, Lyon, France; INSERM U1028, CNRS UMR5292, Lyon Neuroscience Research Centre (CRNL), Lyon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.07.004DOI Listing
November 2018

12q13.12q13.13 microdeletion encompassing ACVRL1 and SCN8A genes: Clinical report of a new contiguous gene syndrome.

Eur J Med Genet 2018 Oct 30. Epub 2018 Oct 30.

Hospices Civils de Lyon, Genetic Department and National HHT Reference Center, Femme-Mère-Enfants Hospital, Bron, F-69677, France.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183055
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http://dx.doi.org/10.1016/j.ejmg.2018.10.017DOI Listing
October 2018

Additive Effect of Variably Penetrant 22q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest?

J Autism Dev Disord 2018 08;48(8):2886-2889

Département de génétique médicale, Institut Imagine, Hôpital Necker-Enfants Malades, INSERM UMR 1163, Université Paris Descartes-Sorbonne, Paris, France.

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http://dx.doi.org/10.1007/s10803-018-3552-7DOI Listing
August 2018

Neonatal tremor episodes and hyperekplexia-like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy.

Epileptic Disord 2018 Aug;20(4):289-294

Service de Neurologie Pédiatrique, HFME, Hospices Civils de Lyon, Centre de Référence des Épilepsies Rares (CReER)Maladies, HFME-HCL, Lyon, France.

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http://dx.doi.org/10.1684/epd.2018.0988DOI Listing
August 2018

Sex gap in aging and longevity: can sex chromosomes play a role?

Biol Sex Differ 2018 07 17;9(1):33. Epub 2018 Jul 17.

Laboratoire "Biométrie et Biologie Evolutive"- UMR 5558, CNRS / Université Lyon 1, Villeurbanne, France.

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http://dx.doi.org/10.1186/s13293-018-0181-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6050741PMC
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.

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

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Am J Hum Genet 2018 05 12;102(5):744-759. Epub 2018 Apr 12.

Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.02.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986661PMC
May 2018

Prenatal Diagnosis of Trisomy 2p due to Terminal 2p Duplication including Interstitial Telomeric Sequences.

Cytogenet Genome Res 2017 22;153(3):117-124. Epub 2017 Dec 22.

Laboratoire de Cytogénétique Constitutionnelle, Service de Génétique, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1159/000485392DOI Listing
March 2018

Familial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness.

Cytogenet Genome Res 2017 16;153(2):66-72. Epub 2017 Dec 16.

Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V Souissi, Rabat, Morocco.

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https://www.karger.com/Article/FullText/485071
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http://dx.doi.org/10.1159/000485071DOI Listing
February 2018

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:
Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

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http://dx.doi.org/10.1016/j.ajhg.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671PMC
November 2017

Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions.

Am J Med Genet A 2017 Aug 9;173(8):2268-2274. Epub 2017 Jun 9.

Hospices Civils de Lyon, Service de Génétique, Centre de Référence Anomalies du Développement, Bron, France.

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http://dx.doi.org/10.1002/ajmg.a.38307DOI Listing
August 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.

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

Genomic Microarray in Intellectual Disability: The Usefulness of Existing Systems in the Interpretation of Copy Number Variation.

J Pediatr Genet 2017 Jun 8;6(2):84-91. Epub 2016 Sep 8.

Department of Cytogenetic and Reproductive Biology, Farhat Hached University Teaching Hospital, Sousse, Tunisia.

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http://dx.doi.org/10.1055/s-0036-1588027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5423794PMC
June 2017

Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature.

BMC Med Genet 2017 Jan 31;18(1). Epub 2017 Jan 31.

Centre de référence des anomalies du développement, Service de génétique, Hospices Civils de Lyon, & Centre de Recherche en Neurosciences de Lyon, Inserm U1028, UMR CNRS 5292, GENDEV Team, Lyon 1-Claude Bernard University, Bron, France.

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http://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881
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http://dx.doi.org/10.1186/s12881-017-0371-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5282903PMC
January 2017

Characterization of a de novo Supernumerary Neocentric Ring Chromosome Derived from Chromosome 7.

Cytogenet Genome Res 2015 16;147(2-3):111-7. Epub 2015 Dec 16.

Laboratoire de Cytogx00E9;nx00E9;tique Constitutionnelle, Service de Gx00E9;nx00E9;tique, Centre de Biologie et de Pathologie Est, Bron, France.

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http://dx.doi.org/10.1159/000442265DOI Listing
August 2016

Milk kinship is not an obstacle to using donor human milk to feed preterm infants in Muslim countries.

Acta Paediatr 2016 May 19;105(5):462-7. Epub 2016 Jan 19.

Lactarium Régional Rhône-Alpes, Hôpital de la croix rousse, Lyon, France.

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http://dx.doi.org/10.1111/apa.13308DOI Listing
May 2016

Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature.

Eur J Med Genet 2015 Jun-Jul;58(6-7):341-5. Epub 2015 Apr 23.

APHP, Hôpital Armand-Trousseau, Service de Génétique et d'Embryologie médicales, Paris, 75012, France.

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http://dx.doi.org/10.1016/j.ejmg.2015.04.003DOI Listing
March 2016

Expression patterns of ERVWE1/Syncytin-1 and other placentally expressed human endogenous retroviruses along the malignant transformation process of hydatidiform moles.

Placenta 2016 Mar 14;39:116-24. Epub 2016 Jan 14.

Joint Unit Hospices Civils de Lyon-bioMérieux, Cancer Biomarkers Research Group, University Hospital Lyon Sud, 165, chemin du Grand Revoyet, 69495 Pierre Bénite, France; EA Pathophysiology of Injury-induced Immunosuppression, University of Lyon1-Hospices Civils de Lyon-bioMérieux, Hôpital Edouard Herriot, 5 Place d'Arsonval, 69437 Lyon Cedex 3, France. Electronic address:

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http://dx.doi.org/10.1016/j.placenta.2016.01.011DOI Listing
March 2016

Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.

Dev Med Child Neurol 2015 Dec 23;57(12):1183-6. Epub 2015 Sep 23.

Department of Genetics, AP-HP, La Pitié-Salpêtrière University Hospital, Paris, France.

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http://dx.doi.org/10.1111/dmcn.12927DOI Listing
December 2015

Microarray Analysis of 8p23.1 Deletion in New Patients with Atypical Phenotypical Traits.

J Pediatr Genet 2015 Dec 14;4(4):187-93. Epub 2015 Oct 14.

Cytogenetic and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia; Common Service Units for Research in Genetics, Faculty of Medicine of Sousse, University of Sousse, Tunisia.

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http://dx.doi.org/10.1055/s-0035-1565269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4906530PMC
December 2015

Behavioral disturbance and treatment strategies in Smith-Magenis syndrome.

Orphanet J Rare Dis 2015 Sep 4;10:111. Epub 2015 Sep 4.

Center for Screening and Treatment of Psychiatric Disorders of Genetic Origin, Vinatier Hospital, 95 Bd Pinel, 69678, Lyon, France.

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http://dx.doi.org/10.1186/s13023-015-0330-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4559928PMC
September 2015

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients.

Am J Med Genet A 2015 Mar 8;167A(3):504-11. Epub 2015 Jan 8.

Unité de Génétique Médicale et Oncogénétique, Centre Hospitalier Universitaire Amiens Picardie, Amiens, France; Laboratoire de Cytogénétique et Biologie de la Reproduction, Centre Hospitalier Universitaire Amiens Picardie, Amiens, France.

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http://dx.doi.org/10.1002/ajmg.a.36882DOI Listing
March 2015

Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.

Eur J Med Genet 2015 Feb 11;58(2):51-8. Epub 2014 Dec 11.

CRNL, CNRS UMR 5292, INSERM U1028, Lyon, France; Department of Genetics, Lyon University Hospital, Lyon, France; Claude Bernard Lyon I University, Lyon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.11.007DOI Listing
February 2015

A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion.

Am J Med Genet A 2015 Jan 25;167A(1):164-8. Epub 2014 Nov 25.

Department of Genetics, Lyon University Hospital, Lyons, France.

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http://dx.doi.org/10.1002/ajmg.a.36759DOI Listing
January 2015

Complex phenotype with social communication disorder caused by mosaic supernumerary ring chromosome 19p.

BMC Med Genet 2014 Dec 11;15:132. Epub 2014 Dec 11.

Hospices Civils de Lyon, service de génétique et centre de référence des anomalies du développement, GHE, Lyon, France.

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http://dx.doi.org/10.1186/s12881-014-0132-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4411819PMC
December 2014

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

PLoS Genet 2014 Sep 4;10(9):e1004580. Epub 2014 Sep 4.

Institut Pasteur, Human Genetics and Cognitive Functions Unit, Paris, France; CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France; University Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Paris, France; FondaMental Foundation, Créteil, France.

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http://dx.doi.org/10.1371/journal.pgen.1004580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4154644PMC
September 2014

Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.

Am J Med Genet A 2014 Aug 8;164A(8):2025-8. Epub 2014 Apr 8.

Department of Molecular Genetics, Lyon University Hospital, Lyon, France; Claude Bernard Lyon I University, Lyon, France; CRNL, CNRS UMR 5292, INSERM U1028, Lyon, France.

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http://dx.doi.org/10.1002/ajmg.a.36547DOI Listing
August 2014

Direct visualization of the highly polymorphic RNU2 locus in proximity to the BRCA1 gene.

PLoS One 2013 11;8(10):e76054. Epub 2013 Oct 11.

«Genetics of Breast Cancer» team, Cancer Research Centre of Lyon, CNRS UMR5286, Inserm U1052, Université Claude Bernard Lyon 1, Centre Léon Bérard, Lyon, France ; Genomic Vision, Bagneux, Paris, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0076054PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3795722PMC
July 2014

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

Am J Hum Genet 2014 Jul;95(1):113-20

Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, 21079 Dijon, France; Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France; Laboratoire de Génétique Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4085634PMC
July 2014

A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.

Am J Med Genet A 2014 Jun 25;164A(6):1571-5. Epub 2014 Mar 25.

Genetics Service, Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, and Eastern Biology and Pathology Centre, Bron Cedex, France.

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http://dx.doi.org/10.1002/ajmg.a.36484DOI Listing
June 2014

Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion.

Am J Med Genet A 2014 May 24;164A(5):1310-7. Epub 2014 Mar 24.

Département de Génétique Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France; INSERM U781, Université Sorbonne Paris Cité, Institut IMAGINE, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.36452DOI Listing
May 2014

Diversity of hepatocellular carcinoma clones bearing hematopoietic malignancies-related chromosomal translocation.

J Cell Biochem 2014 Apr;115(4):666-77

DevWeCan Laboratories of Excellence Network (Labex), Université de Lyon, Lyon Cancer Research Center, Inserm U1052-CNRS UMR5286, Lyon, France.

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http://dx.doi.org/10.1002/jcb.24706DOI Listing
April 2014

A proposed diagnostic approach for infantile spasms based on a spectrum of variable aetiology.

Eur J Paediatr Neurol 2014 Mar 18;18(2):176-82. Epub 2013 Nov 18.

Pediatric Neurology Department, Hôpital Femme Mère Enfant, Centre Hospitalier Universitaire de Lyon, 59 Boulevard Pinel, 69500 Bron, France.

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http://dx.doi.org/10.1016/j.ejpn.2013.11.005DOI Listing
March 2014

Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.

Am J Med Genet A 2013 Dec 16;161A(12):3063-71. Epub 2013 Aug 16.

Service de Génétique and Centre de Référence des Anomalies du Développement, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Lyon, France; INSERM U1028, CNRS, UMR5292, Lyon Neuroscience Research Center, TIGER Team, University Claude Bernard Lyon 1, Université de Lyon, Lyon, France.

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http://dx.doi.org/10.1002/ajmg.a.36162DOI Listing
December 2013

The psychological impact of cryptic chromosomal abnormalities diagnosis announcement.

Eur J Med Genet 2013 Nov 17;56(11):585-90. Epub 2013 Sep 17.

Centre de référence des anomalies du développement, Service de Génétique, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1016/j.ejmg.2013.09.002DOI Listing
November 2013

Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability.

Am J Med Genet A 2013 Oct 5;161A(10):2564-9. Epub 2013 Aug 5.

Service de Génétique, Laboratoire de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Lyon, France.

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http://dx.doi.org/10.1002/ajmg.a.36079DOI Listing
October 2013

Xp22.3 interstitial deletion: a recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation.

Gene 2013 Sep 18;527(2):578-83. Epub 2013 Jun 18.

Cytogenetic and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia.

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http://dx.doi.org/10.1016/j.gene.2013.06.018DOI Listing
September 2013

Molecular cytogenetic and phenotypic characterization of ring chromosome 13 in three unrelated patients.

J Pediatr Genet 2013 Sep;2(3):147-55

Department of Cytogenetics and Reproductive Biology, Farhat Hached University Teaching Hospital, Sousse, Tunisia; Common Service Units for Research in Genetics, Sousse Faculty of Medicine, Avenue Mohamed Karoui, Sousse, Tunisia.

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http://dx.doi.org/10.3233/PGE-13063DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020974PMC
September 2013

Phenotype and micro-array characterization of duplication 11q22.1-q25 and review of the literature.

Gene 2013 Apr 9;519(1):135-41. Epub 2013 Feb 9.

Cytogenetics and Reproductive Biology Department, Farhat Hached University Teaching Hospital, and Common Service Units for Research in Genetics, Faculty of Medicine of Sousse, Avenue Mohamed Karoui, University of Sousse, Sousse, Tunisia.

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http://dx.doi.org/10.1016/j.gene.2013.01.017DOI Listing
April 2013

Jacobsen and Beckwith-Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomy.

Am J Med Genet A 2013 Feb 15;161A(2):331-7. Epub 2013 Jan 15.

Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Bron, France.

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http://doi.wiley.com/10.1002/ajmg.a.35708
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http://dx.doi.org/10.1002/ajmg.a.35708DOI Listing
February 2013

HBB loss of heterozygosity in the hemopoietic lineage gives rise to an unusual sickle-cell trait phenotype.

Haematologica 2013 Jan 12;98(1):e7-8. Epub 2012 Oct 12.

Unité de Pathologie Moléculaire du Globule Rouge, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Hospices Civils and Université Claude Bernard-Lyon 1, Lyon, France.

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http://dx.doi.org/10.3324/haematol.2012.071167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3533668PMC
January 2013

Mosaic 18q21.2 deletions including the TCF4 gene: a clinical report.

Am J Med Genet A 2012 Dec 19;158A(12):3174-81. Epub 2012 Nov 19.

Centre de référence des anomalies du développement, Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1002/ajmg.a.35588DOI Listing
December 2012