Marianne Till

Marianne Till

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Marianne Till

Marianne Till

Publications by authors named "Marianne Till"

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Prenatal findings in 1p36 deletion syndrome: New cases and a literature review.

Prenat Diagn 2019 Sep 5;39(10):871-882. Epub 2019 Jul 5.

Fédération de Génétique, Centre Hospitalier Intercommunal Poissy-St-Germain-en-Laye, Poissy, France.

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http://dx.doi.org/10.1002/pd.5498DOI Listing
September 2019

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

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

Large deletion in 6q associated to A20 haploinsufficiency and thoracoabdominal heterotaxy.

Ann Rheum Dis 2018 11 20;77(11):1697-1698. Epub 2018 Apr 20.

CIRI, Centre International de Recherche en Infectiologie - International Center for Infectiology Research, Lyon, France.

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http://dx.doi.org/10.1136/annrheumdis-2018-213300DOI Listing
November 2018

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

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

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

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

Early repolarization syndrome caused by duplication of detected by next-generation sequencing.

HeartRhythm Case Rep 2017 Dec 20;3(12):574-578. Epub 2017 Oct 20.

Laboratoire de Cardiogénétique Moléculaire, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Lyon, France.

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http://dx.doi.org/10.1016/j.hrcr.2017.08.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5741810PMC
December 2017

disease: Phenotype clarification and genotype-phenotype correlation.

Neurol Genet 2017 Jun 26;3(3):e148. Epub 2017 May 26.

Department of Paediatrics (Neurology) (M.A., B.A.M.), Program in Genetics and Genome Biology (S.W.S., C.R.M., S.W., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; Research Group Development and Disease (V.M.K., V.S.), Max Plank Institute for Molecular Genetics, Berlin, Germany; Department of Neurology (E.M., E.S.), University of California, San Francisco; Service de Cytogenetique Constitutionnelle (G.L., M.T.), Hospice Civils de Lyon, France; Center for Medical Genetics and Molecular Medicine (G.G.), Haukeland University Hospital, Bergen, Norway; Humangenetisches Institut (A.W.), Universitaetsklinikum Erlangen, Germany; Zentrum für Kinder- und Jugendmedizin (C.K.), Elisabeth Kinderkrankenhaus, Oldenburg, Germany; Service de Genetique Medicale (S.M.), CHU Hotel Dieu, Nantes, France; Neurologische Universitätsklinik (F.B.), Tübingen, Germany; Institute of Medical Genetics (T.Y.), Tokyo Women's Medical University, Japan; Diagnostics Division (U.R.D., A.B.D.), Center for DNA Fingerprinting and Diagnostics, Telangana, India; Shahrood Welfare Organization (P.J.), Shahrood, Iran; and Genetics Research Center (K.K., H.N.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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http://dx.doi.org/10.1212/NXG.0000000000000148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5446782PMC
June 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

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

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
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

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

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

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

Chromosome 6p25 deletion syndrome: report of a case with optic disc coloboma and review of published ophthalmic findings.

Ophthalmic Genet 2012 Dec 12;33(4):240-8. Epub 2012 Apr 12.

Department of Paediatric Ophthalmology, Femme Mère-Enfant Hospital, Bron, France.

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http://dx.doi.org/10.3109/13816810.2012.675396DOI Listing
December 2012

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

An 800  kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p.

Am J Med Genet A 2012 Feb 7;158A(2):400-5. Epub 2011 Dec 7.

Hospices Civils de Lyon, Service de Génétique Moléculaire et Clinique, Lyon, France.

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http://dx.doi.org/10.1002/ajmg.a.34222DOI Listing
February 2012

Prenatal diagnosis of 'isolated' Dandy-Walker malformation: imaging findings and prenatal counselling.

Prenat Diagn 2012 Feb;32(2):185-93

Département d'Imagerie Pédiatrique et Foetale, Hôpital Femme Mère Enfant, Université Claude Bernard Lyon I, Lyon, France.

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http://dx.doi.org/10.1002/pd.3828DOI Listing
February 2012

De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features.

Am J Med Genet A 2011 Jul 27;155A(7):1706-11. Epub 2011 May 27.

Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, Groupement Hospitalier Est, Lyon, France.

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http://dx.doi.org/10.1002/ajmg.a.34004DOI Listing
July 2011

17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor.

Am J Med Genet A 2010 May;152A(5):1278-82

Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, CBPE, Lyon, France.

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http://dx.doi.org/10.1002/ajmg.a.33316DOI Listing
May 2010

Ring 14 chromosome presenting as early-onset isolated partial epilepsy.

Dev Med Child Neurol 2009 Nov 31;51(11):917-22. Epub 2009 Mar 31.

Department of Pediatric Neurology, Hôpital Femme Mère Enfant, Lyon, France.

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http://dx.doi.org/10.1111/j.1469-8749.2009.03292.xDOI Listing
November 2009

Unexpected diagnosis of 45,X/47,XX,+18 mosaicism in a girl with mild phenotype.

Am J Med Genet A 2009 Nov;149A(11):2584-7

Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, Bron Cedex, France.

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http://dx.doi.org/10.1002/ajmg.a.32772DOI Listing
November 2009

TWIST microdeletion identified by array CGH in a patient presenting Saethre-Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7.

Eur J Med Genet 2008 Mar-Apr;51(2):156-64. Epub 2007 Dec 24.

Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle - Centre de Biologie et de Pathologie Est, 59 Boulevard Pinel, Bron 69677 Cedex, France.

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http://dx.doi.org/10.1016/j.ejmg.2007.12.003DOI Listing
June 2008

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors:
Gillian Rice Teresa Patrick Rekha Parmar Claire F Taylor Alec Aeby Jean Aicardi Rafael Artuch Simon Attard Montalto Carlos A Bacino Bruno Barroso Peter Baxter Willam S Benko Carsten Bergmann Enrico Bertini Roberta Biancheri Edward M Blair Nenad Blau David T Bonthron Tracy Briggs Louise A Brueton Han G Brunner Christopher J Burke Ian M Carr Daniel R Carvalho Kate E Chandler Hans-Jurgen Christen Peter C Corry Frances M Cowan Helen Cox Stefano D'Arrigo John Dean Corinne De Laet Claudine De Praeter Catherine Dery Colin D Ferrie Kim Flintoff Suzanna G M Frints Angels Garcia-Cazorla Blanca Gener Cyril Goizet Francoise Goutieres Andrew J Green Agnes Guet Ben C J Hamel Bruce E Hayward Arvid Heiberg Raoul C Hennekam Marie Husson Andrew P Jackson Rasieka Jayatunga Yong-Hui Jiang Sarina G Kant Amy Kao Mary D King Helen M Kingston Joerg Klepper Marjo S van der Knaap Andrew J Kornberg Dieter Kotzot Wilfried Kratzer Didier Lacombe Lieven Lagae Pierre Georges Landrieu Giovanni Lanzi Andrea Leitch Ming J Lim John H Livingston Charles M Lourenco E G Hermione Lyall Sally A Lynch Michael J Lyons Daphna Marom John P McClure Robert McWilliam Serge B Melancon Leena D Mewasingh Marie-Laure Moutard Ken K Nischal John R Ostergaard Julie Prendiville Magnhild Rasmussen R Curtis Rogers Dominique Roland Elisabeth M Rosser Kevin Rostasy Agathe Roubertie Amparo Sanchis Raphael Schiffmann Sabine Scholl-Burgi Sunita Seal Stavit A Shalev C Sierra Corcoles Gyan P Sinha Doriette Soler Ronen Spiegel John B P Stephenson Uta Tacke Tiong Yang Tan Marianne Till John L Tolmie Pam Tomlin Federica Vagnarelli Enza Maria Valente Rudy N A Van Coster Nathalie Van der Aa Adeline Vanderver Johannes S H Vles Thomas Voit Evangeline Wassmer Bernhard Weschke Margo L Whiteford Michel A A Willemsen Andreas Zankl Sameer M Zuberi Simona Orcesi Elisa Fazzi Pierre Lebon Yanick J Crow

Am J Hum Genet 2007 Oct 4;81(4):713-25. Epub 2007 Sep 4.

Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, LS9 7TF, UK.

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http://dx.doi.org/10.1086/521373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227922PMC
October 2007

Biliary lithiasis in early pregnancy and abnormal development of facial and distal limb bones (Binder syndrome): a possible role for vitamin K deficiency.

Birth Defects Res A Clin Mol Teratol 2005 Mar;73(3):188-93

Medical Genetics Unit, Debrousse Hospital, 29 rue Soeur Bouvier, 69322 Lyon cedex 05, France.

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http://dx.doi.org/10.1002/bdra.20123DOI Listing
March 2005

[Alveolar capillary dysplasia with misalignment of pulmonary vessels].

Ann Pathol 2004 Sep;24(4):349-55

Service d'anatomie et de cytologie pathologique, France.

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September 2004