Jeanne Amiel

Jeanne Amiel

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Jeanne Amiel

Jeanne Amiel

Publications by authors named "Jeanne Amiel"

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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 de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis.

Am J Med Genet A 2019 Jul 19;179(7):1304-1309. Epub 2019 Apr 19.

Laboratory of embryology and genetics of malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.61151DOI Listing
July 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 Mar 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Am J Hum Genet 2019 Feb 10;104(2):319-330. Epub 2019 Jan 10.

Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France; Service d'Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091 Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.12.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369415PMC
February 2019

Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism.

J Clin Endocrinol Metab 2018 11;103(11):4023-4032

Center for Bone Health, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1210/jc.2018-01260DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6194809PMC
November 2018

First prenatal case of proximal 19p13.12 microdeletion syndrome: New insights and new delineation of the syndrome.

Eur J Med Genet 2018 Jun 3;61(6):322-328. Epub 2018 Feb 3.

APHP, Service d'Histologie, Embryologie et Cytogénétique, Hôpitaux Universitaires Paris-Sud, Hôpital Antoine Béclère, 92140, Clamart, France; Faculté de Médecine Paris-Sud, Université Paris-Sud, 94276 Le Kremlin-Bicêtre cedex, France.

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http://dx.doi.org/10.1016/j.ejmg.2018.01.009DOI Listing
June 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

Next generation phenotyping using narrative reports in a rare disease clinical data warehouse.

Orphanet J Rare Dis 2018 05 31;13(1):85. Epub 2018 May 31.

Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche des Cordeliers, UMR 1138 Equipe 22, Paris Descartes, Sorbonne Paris Cité University, Paris, France.

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http://dx.doi.org/10.1186/s13023-018-0830-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5984368PMC
May 2018

MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.

Am J Med Genet A 2018 01 21;176(1):181-186. Epub 2017 Nov 21.

Laboratory of Embryology and Genetics of Congenital Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.38536DOI Listing
January 2018

Efficiency of prenatal diagnosis in Pierre Robin sequence.

Prenat Diagn 2017 Nov 26;37(11):1169-1175. Epub 2017 Oct 26.

Paris Descartes-Sorbonne Paris Cité University, Paris, France.

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http://dx.doi.org/10.1002/pd.5162DOI Listing
November 2017

[A gene coding for a metalloprotease for the first time implied in heterotaxy].

Med Sci (Paris) 2016 Jun-Jul;32(6-7):551-3. Epub 2016 Jul 12.

Inserm U 1163, Institut Imagine, 24, boulevard Montparnasse, 75014 Paris, France.

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http://dx.doi.org/10.1051/medsci/20163206007DOI Listing
July 2017

[Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects].

Med Sci (Paris) 2016 Jun-Jul;32(6-7):571-3. Epub 2016 Jul 12.

Inserm UMR 1163, laboratoire bases moléculaires et pathophysiologiques des désordres cognitifs, université Paris Descartes- Sorbonne Paris Cité, institut Imagine, hôpital Necker-Enfants Malades, 24, boulevard du Montparnasse, 75015 Paris, France.

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http://dx.doi.org/10.1051/medsci/20163206015DOI Listing
July 2017

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.

Am J Med Genet A 2017 Apr;173(4):938-945

Centro de Pesquisas Sobre o Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.38101DOI Listing
April 2017

RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability.

Am J Med Genet A 2015 Aug 6;167A(8):1908-12. Epub 2015 Apr 6.

Service de Génétique, INSERM U781, Hôpital Necker-Enfants Malades, Institut Imagine, University Sorbonne-Paris-Cité, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.37094DOI Listing
August 2015

Contiguous mutation syndrome in the era of high-throughput sequencing.

Mol Genet Genomic Med 2015 May 18;3(3):215-20. Epub 2015 Mar 18.

INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital 75015, Paris, France.

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http://dx.doi.org/10.1002/mgg3.134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444163PMC
May 2015

Late-onset congenital central hypoventilation syndrome and a rare PHOX2B gene mutation.

Sleep Breath 2015 Mar 4;19(1):55-60. Epub 2014 May 4.

Departamento da Criança e Adolescente, Centro Hospitalar do Porto, Largo Professor Abel Salazar, 4099-001, Porto, Portugal,

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http://dx.doi.org/10.1007/s11325-014-0996-7DOI Listing
March 2015

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.

Eur J Med Genet 2014 Oct 3;57(10):587-95. Epub 2014 Sep 3.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK; Southeast Scotland Clinical Genetics Services, Western General Hospital, Edinburgh EH4 2XU, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.08.007DOI Listing
October 2014

Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome.

Am J Med Genet A 2014 Jul 26;164A(7):1850-3. Epub 2014 Mar 26.

INSERM U1163, Hôpital Necker-Enfants Malades and Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.36505DOI Listing
July 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

Rubinstein-Taybi syndrome predisposing to non-WNT, non-SHH, group 3 medulloblastoma.

Pediatr Blood Cancer 2014 Feb 20;61(2):383-6. Epub 2013 Sep 20.

INSERMU830, Laboratoire de génétique et biologie des cancers, Institut Curie, Paris, France; Département de pédiatrie, Institut Curie, Paris, France.

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http://dx.doi.org/10.1002/pbc.24765DOI Listing
February 2014

FOX gene cluster defects in alveolar capillary dysplasia associated with congenital heart disease.

Cardiol Young 2013 Oct 21;23(5):697-704. Epub 2013 Jan 21.

Department of Pediatric Cardiology, Centre de Référence Malformations cardiaques Congénitales Complexes-M3C, Hôpital Necker-Enfants-Malades, Université Paris Descartes, Paris, France.

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http://dx.doi.org/10.1017/S1047951112001904DOI Listing
October 2013

Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations.

Am J Med Genet A 2013 Sep 2;161A(9):2339-46. Epub 2013 Aug 2.

Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, Saitama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36066DOI Listing
September 2013

Contributions of PHOX2B in the pathogenesis of Hirschsprung disease.

PLoS One 2013 14;8(1):e54043. Epub 2013 Jan 14.

Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville, University Hospital Virgen del Rocío/Centro Superior de Investigaciones Científicas/University of Seville, Seville, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0054043PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3544660PMC
August 2013

Autonomic dysfunction of glucose homoeostasis in congenital central hypoventilation syndrome.

Acta Paediatr 2013 Apr 29;102(4):e178-80. Epub 2012 Dec 29.

First Department of Paediatrics, Semmelweis University, Budapest, Hungary.

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http://dx.doi.org/10.1111/apa.12125DOI Listing
April 2013

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.

Eur J Hum Genet 2013 Feb 18;21(2):195-9. Epub 2012 Jul 18.

INSERM U781, Département de Génétique et de Radiologie Pédiatrique, Fondation IMAGINE, Université Paris Descartes, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2012.140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548256PMC
February 2013

miRNA, development and disease.

Adv Genet 2012 ;80:1-36

Unité INSERM U781, Université Paris-Sorbonne Cité, Institut IMAGINE, France.

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http://dx.doi.org/10.1016/B978-0-12-404742-6.00001-6DOI Listing
January 2013

Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia.

Am J Med Genet A 2012 Oct 7;158A(10):2407-11. Epub 2012 Aug 7.

Department of Genetics, AP-HP-Robert Debré Hospital, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.35513DOI Listing
October 2012

Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family.

Am J Med Genet A 2012 Sep 27;158A(9):2290-1. Epub 2012 Jul 27.

Service de Biochimie et de Génétique Moléculaire, Hôpital Cochin AP-HP, Paris, UMR745 INSERM, Université Paris Descartes, Sorbonne Paris Cité, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.35496DOI Listing
September 2012

Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression.

J Clin Invest 2012 Sep 27;122(9):3145-58. Epub 2012 Aug 27.

Laboratory for Neuronal Differentiation and Regeneration, RIKEN Center for Developmental Biology, Kobe, Japan.

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http://dx.doi.org/10.1172/JCI63401DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3428093PMC
September 2012

MicroRNAs in genetic disease: rethinking the dosage.

Curr Gene Ther 2012 Aug;12(4):292-300

Inserm U-Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.

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August 2012

[Cis-ruptions of highly conserved non-coding genomic elements distant from the SOX9 gene in the Pierre Robin sequence].

Biol Aujourdhui 2011 11;205(2):111-24. Epub 2011 Aug 11.

Département de génétique, Université Paris Descartes et Inserm U-781, Hôpital Necker-Enfants Malades, Paris Cedex, France.

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http://www.biologie-journal.org/10.1051/jbio/2011010
Publisher Site
http://dx.doi.org/10.1051/jbio/2011010DOI Listing
September 2011

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.

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