Full Text Journal Articles by
Author Marianne Till

Advertisement

Find full text journal articles






Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome.

Tania Dery, Nicolas Chatron, Amerh Alqahtani, Michel Pugeat, Marianne Till, Patrick Edery, Damien Sanlaville, Caroline Schluth-Bolard, Marc Nicolino, Gaetan Lesca, Audrey Putoux,

Mosaic Variegated Aneuploidy Syndrome (MVA) is a rare autosomal recessive disorder characterized by mosaic aneuploidies involving multiple chromosomes and tissues. Affected individuals typically present with severe intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, developmental delay and predisposition to cancer and epilepsy. Three genes, BUB1B, CEP57 and TRIP13, are involved ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, 63(11):104044]

Cited: 0 times

View full text PDF listing >>



A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism.

Pauline Monin, Nicolas Reynaud, Nadine Hanna, Sophie Dupuis-Girod, Marianne Till, Pauline Arnaud, Audrey Labalme, Eudeline Alix, Coline Poizat-Amar, Marie Faoucher, Lucie Ravella, Bernard Debost, Jean-François Obadia, Jean-Christophe Zech, Catherine Boileau, Damien Sanlaville, Patrick Edery, Audrey Putoux, Caroline Schluth-Bolard,

In this report, we present a new case of mosaic trisomy 13 with prolonged survival, firstly detected by array-CGH analysis which was carried out because of moderate intellectual disability with postaxial hexadactyly, dermatologic features, ventricular septal defect, bicuspid aortic valve, and aortic dystrophy in a 19-year-old male patient. In a ... Read more >>

Cytogenet. Genome Res. (Cytogenetic and genome research)
[2020, 160(2):72-79]

Cited: 0 times

View full text PDF listing >>



Advertisement

Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization.

Kévin Uguen, Claire Jubin, Yannis Duffourd, Claire Bardel, Valérie Malan, Jean-Michel Dupont, Laila El Khattabi, Nicolas Chatron, Antonio Vitobello, Pierre-Antoine Rollat-Farnier, Céline Baulard, Marc Lelorch, Aurélie Leduc, Emilie Tisserant, Frédéric Tran Mau-Them, Vincent Danjean, Marc Delepine, Marianne Till, Vincent Meyer, Stanislas Lyonnet, Anne-Laure Mosca-Boidron, Julien Thevenon, Laurence Faivre, Christel Thauvin-Robinet, Caroline Schluth-Bolard, Anne Boland, Robert Olaso, Patrick Callier, Serge Romana, Jean-François Deleuze, Damien Sanlaville,

BACKGROUND:Structural variants (SVs) include copy number variants (CNVs) and apparently balanced chromosomal rearrangements (ABCRs). Genome sequencing (GS) enables SV detection at base-pair resolution, but the use of short-read sequencing is limited by repetitive sequences, and long-read approaches are not yet validated for diagnosis. Recently, 10X Genomics proposed Chromium, a technology ... Read more >>

Mol Genet Genomic Med (Molecular genetics & genomic medicine)
[2020, 8(3):e1114]

Cited: 1 time

View full text PDF listing >>



Growth charts in Kabuki syndrome 1.

Valentin Ruault, Carole Corsini, Claire Duflos, Sandrine Akouete, Véra Georgescu, Mario Abaji, Yves Alembick, Eudeline Alix, Jeanne Amiel, Cyril Amouroux, Mouna Barat-Houari, Clarisse Baumann, Adeline Bonnard, Guilaine Boursier, Odile Boute, Lydie Burglen, Tiffany Busa, Marie-Pierre Cordier, Valérie Cormier-Daire, Marie-Ange Delrue, Bérénice Doray, Laurence Faivre, Mélanie Fradin, Brigitte Gilbert-Dussardier, Fabienne Giuliano, Alice Goldenberg, Svetlana Gorokhova, Delphine Héron, Bertrand Isidor, Marie-Line Jacquemont, Aurélia Jacquette, Claire Jeandel, Didier Lacombe, Martine Le Merrer, Kim Hanh Le Quan Sang, Stanislas Lyonnet, Sylvie Manouvrier, Caroline Michot, Anne Moncla, Sébastien Moutton, Sylvie Odent, Anna Pelet, Nicole Philip, Lucile Pinson, Julie Reversat, Joëlle Roume, Elodie Sanchez, Damien Sanlaville, Pierre Sarda, Elise Schaefer, Marianne Till, Isabelle Touitou, Annick Toutain, Marjolaine Willems, Vincent Gatinois, David Geneviève,

Kabuki syndrome (KS, KS1: OMIM 147920 and KS2: OMIM 300867) is caused by pathogenic variations in KMT2D or KDM6A. KS is characterized by multiple congenital anomalies and neurodevelopmental disorders. Growth restriction is frequently reported. Here we aimed to create specific growth charts for individuals with KS1, identify parameters used for ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, 182(3):446-453]

Cited: 0 times

View full text PDF listing >>



Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism.

Marie Faoucher, Anne-Lise Poulat, Nicolas Chatron, Audrey Labalme, Caroline Schluth-Bolard, Marianne Till, Christine Vianey-Saban, Vincent Des Portes, Patrick Edery, Damien Sanlaville, Gaëtan Lesca, Cécile Acquaviva,

We report the case of a girl with Asparagine synthetase deficiency, an autosomal recessive metabolic disorder characterized by severe microcephaly and epileptic encephalopathy secondary to pathogenic variants in the ASNS gene. Genetic explorations found a deletion of ASNS and a missense variant on the other allele detected respectively by array ... Read more >>

Mol Genet Metab Rep (Molecular genetics and metabolism reports)
[2019, 21:100509]

Cited: 0 times

View full text PDF listing >>



Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations.

Alonso Cárdenas-de-la-Parra, Sandra Martin-Brevet, Clara Moreau, Borja Rodriguez-Herreros, Vladimir S Fonov, Anne M Maillard, Nicole R Zürcher, , Nouchine Hadjikhani, Jacques S Beckmann, Alexandre Reymond, Bogdan Draganski, Sébastien Jacquemont, D Louis Collins,

Most of human genome is present in two copies (maternal and paternal). However, segments of the genome can be deleted or duplicated, and many of these genomic variations (known as Copy Number Variants) are associated with psychiatric disorders. 16p11.2 copy number variants (breakpoint 4-5) confer high risk for neurodevelopmental disorders ... Read more >>

Neuroimage (NeuroImage)
[2019, 203:116155]

Cited: 0 times

View full text PDF listing >>



Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.

Bettina E Mucha, Siddharth Banka, Norbert Fonya Ajeawung, Sirinart Molidperee, Gary G Chen, Mary Kay Koenig, Rhamat B Adejumo, Marianne Till, Michael Harbord, Renee Perrier, Emmanuelle Lemyre, Renee-Myriam Boucher, Brian G Skotko, Jessica L Waxler, Mary Ann Thomas, Jennelle C Hodge, Jozef Gecz, Jillian Nicholl, Lesley McGregor, Tobias Linden, Sanjay M Sisodiya, Damien Sanlaville, Sau W Cheung, Carl Ernst, Philippe M Campeau,

The original version of this Article contained an error in the spelling of the author Siddharth Banka, which was incorrectly given as Siddhart Banka. This has now been corrected in both the PDF and HTML versions of the Article. ... Read more >>

Genet. Med. (Genetics in medicine : official journal of the American College of Medical Genetics)
[2019, 21(9):2159-2160]

Cited: 0 times

View full text PDF listing >>



Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature.

Amerh Salem Alqahtani, Audrey Putoux, Marie Noelle Bonnet Dupeyron, Maryline Carneiro, Laurence Lion-Francois, Massimiliano Rossi, Hélène Tevissen, Caroline Schluth Bolard, Audrey Labalme, Gaetan Lesca, Marianne Till, Patrick Edery, Damien Sanlaville,

BACKGROUND:Pallister-Killian syndrome (PKS) is a rare sporadic disorder caused by tetrasomy of the short arm of chromosome 12. The main clinical manifestations are global developmental delay, intellectual disability, epilepsy, dysmorphic features, hypopigmented and/or hyperpigmented lesions, and multiple congenital anomalies. PKS is associated with tissue mosaicism, which is difficult to diagnose ... Read more >>

Mol Genet Genomic Med (Molecular genetics & genomic medicine)
[2019, 7(10):e00939]

Cited: 1 time

View full text PDF listing >>



Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.

Aia Elise Jønch, Elise Douard, Clara Moreau, Anke Van Dijck, Marzia Passeggeri, Frank Kooy, Jacques Puechberty, Carolyn Campbell, Damien Sanlaville, Henrietta Lefroy, Sonia Richetin, Aurelie Pain, David Geneviève, Usha Kini, Cédric Le Caignec, James Lespinasse, Anne-Bine Skytte, Bertrand Isidor, Christiane Zweier, Jean-Hubert Caberg, Marie-Ange Delrue, Rikke Steensbjerre Møller, Anders Bojesen, Helle Hjalgrim, Charlotte Brasch-Andersen, Emmanuelle Lemyre, Lilian Bomme Ousager, Sébastien Jacquemont, ,

BACKGROUND:The 15q11.2 deletion is frequently identified in the neurodevelopmental clinic. Case-control studies have associated the 15q11.2 deletion with neurodevelopmental disorders, and clinical case series have attempted to delineate a microdeletion syndrome with considerable phenotypic variability. The literature on this deletion is extensive and confusing, which is a challenge for genetic ... Read more >>

J. Med. Genet. (Journal of medical genetics)
[2019, 56(10):701-710]

Cited: 0 times

View full text PDF listing >>



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

Sarah Guterman, Claire Beneteau, Sylvia Redon, Céline Dupont, Chantal Missirian, Pauline Jaeger, Berenice Herve, Clémence Jacquin, Nathalie Douet-Guilbert, Marianne Till, Anne-Claude Tabet, Kamran Moradkhani, Valérie Malan, Martine Doco-Fenzy, François Vialard,

OBJECTIVE/METHOD:1p36 deletion syndrome is considered to be the most common deletion after 22q11.2 deletion. It is characterized by specific facial features, developmental delay, and organ defects. The primary objective of the present multicenter study was to survey all the cases of 1p36 deletion diagnosed prenatally by French cytogenetics laboratories using ... Read more >>

Prenat. Diagn. (Prenatal diagnosis)
[2019, 39(10):871-882]

Cited: 1 time

View full text PDF listing >>



Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France.

Marguerite Hureaux, Sarah Guterman, Bérénice Hervé, Marianne Till, Sylvie Jaillard, Sylvie Redon, Myléne Valduga, Charles Coutton, Chantal Missirian, Fabienne Prieur, Brigitte Simon-Bouy, Claire Beneteau, Paul Kuentz, Caroline Rooryck, Nicolas Gruchy, Nathalie Marle, Morgane Plutino, Lucie Tosca, Celine Dupont, Jacques Puechberty, Caroline Schluth-Bolard, Laurent Salomon, Damien Sanlaville, Valérie Malan, François Vialard,

OBJECTIVES:Congenital heart defects (CHDs) may be isolated or associated with other malformations. The use of chromosome microarray (CMA) can increase the genetic diagnostic yield for CHDs by between 4% and 10%. The objective of this study was to evaluate the value of CMA after the prenatal diagnosis of an isolated ... Read more >>

Prenat. Diagn. (Prenatal diagnosis)
[2019, 39(6):464-470]

Cited: 0 times

View full text PDF listing >>



Molecular Characterization of a Familial 13.6-Mb 20p11.1p12.1 Duplication without Clinical Consequence.

Julie Masson, Massimiliano Rossi, Audrey Labalme, Marianne Till, Detlef Trost, Isabelle Morin, Caroline Schluth-Bolard, Damien Sanlaville,

Chromosomal microarray (CMA) is currently considered as a first-tier test in the genetic assessment of patients presenting with intellectual disability and/or multiple congenital abnormalities. The distinction between pathogenic CNVs, polymorphisms, and variants of unknown significance can be a diagnostic dilemma for cytogeneticists. The size of the CNV has been proposed ... Read more >>

Cytogenet. Genome Res. (Cytogenetic and genome research)
[2019, 157(3):141-147]

Cited: 0 times

View full text PDF listing >>



Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

Caroline Schluth-Bolard, Flavie Diguet, Nicolas Chatron, Pierre-Antoine Rollat-Farnier, Claire Bardel, Alexandra Afenjar, Florence Amblard, Jeanne Amiel, Sophie Blesson, Patrick Callier, Yline Capri, Patrick Collignon, Marie-Pierre Cordier, Christine Coubes, Benedicte Demeer, Annabelle Chaussenot, Florence Demurger, Françoise Devillard, Martine Doco-Fenzy, Céline Dupont, Jean-Michel Dupont, Sophie Dupuis-Girod, Laurence Faivre, Brigitte Gilbert-Dussardier, Anne-Marie Guerrot, Marine Houlier, Bertrand Isidor, Sylvie Jaillard, Géraldine Joly-Hélas, Valérie Kremer, Didier Lacombe, Cédric Le Caignec, Aziza Lebbar, Marine Lebrun, Gaetan Lesca, James Lespinasse, Jonathan Levy, Valérie Malan, Michele Mathieu-Dramard, Julie Masson, Alice Masurel-Paulet, Cyril Mignot, Chantal Missirian, Fanny Morice-Picard, Sébastien Moutton, Gwenaël Nadeau, Céline Pebrel-Richard, Sylvie Odent, Véronique Paquis-Flucklinger, Laurent Pasquier, Nicole Philip, Morgane Plutino, Linda Pons, Marie-France Portnoï, Fabienne Prieur, Jacques Puechberty, Audrey Putoux, Marlène Rio, Caroline Rooryck-Thambo, Massimiliano Rossi, Catherine Sarret, Véronique Satre, Jean-Pierre Siffroi, Marianne Till, Renaud Touraine, Annick Toutain, Jérome Toutain, Stéphanie Valence, Alain Verloes, Sandra Whalen, Patrick Edery, Anne-Claude Tabet, Damien Sanlaville,

BACKGROUND:Balanced chromosomal rearrangements associated with abnormal phenotype are rare events, but may be challenging for genetic counselling, since molecular characterisation of breakpoints is not performed routinely. We used next-generation sequencing to characterise breakpoints of balanced chromosomal rearrangements at the molecular level in patients with intellectual disability and/or congenital anomalies. METHODS:Breakpoints ... Read more >>

J. Med. Genet. (Journal of medical genetics)
[2019, 56(8):526-535]

Cited: 3 times

View full text PDF listing >>



Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study).

Aline Chassagne, Aurore Pélissier, Françoise Houdayer, Elodie Cretin, Elodie Gautier, Dominique Salvi, Sarah Kidri, Aurélie Godard, Christel Thauvin-Robinet, Alice Masurel, Daphné Lehalle, Nolwenn Jean-Marçais, Julien Thevenon, Gaetan Lesca, Audrey Putoux, Marie-Pierre Cordier, Sophie Dupuis-Girod, Marianne Till, Yannis Duffourd, Jean-Baptiste Rivière, Lorraine Joly, Christine Juif, Olivier Putois, Pierre Ancet, Anne-Sophie Lapointe, Paulette Morin, Patrick Edery, Massimiliano Rossi, Damien Sanlaville, Sophie Béjean, Christine Peyron, Laurence Faivre,

Exome sequencing (ES) has revolutionized diagnostic procedures in medical genetics, particularly for developmental diseases. The variety and complexity of the information produced has raised issues regarding its use in a clinical setting. Of particular interest are patients' expectations regarding the information disclosed, the accompaniment provided, and the value patients place ... Read more >>

Eur. J. Hum. Genet. (European journal of human genetics : EJHG)
[2019, 27(5):701-710]

Cited: 1 time

View full text PDF listing >>



A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.

Bettina E Mucha, Siddharth Banka, Norbert Fonya Ajeawung, Sirinart Molidperee, Gary G Chen, Mary Kay Koenig, Rhamat B Adejumo, Marianne Till, Michael Harbord, Renee Perrier, Emmanuelle Lemyre, Renee-Myriam Boucher, Brian G Skotko, Jessica L Waxler, Mary Ann Thomas, Jennelle C Hodge, Jozef Gecz, Jillian Nicholl, Lesley McGregor, Tobias Linden, Sanjay M Sisodiya, Damien Sanlaville, Sau W Cheung, Carl Ernst, Philippe M Campeau,

PURPOSE:Contiguous gene deletions are known to cause several neurodevelopmental syndromes, many of which are caused by recurrent events on chromosome 16. However, chromosomal microarray studies (CMA) still yield copy-number variants (CNVs) of unknown clinical significance. We sought to characterize eight individuals with overlapping 205-kb to 504-kb 16p13.3 microdeletions that are ... Read more >>

Genet. Med. (Genetics in medicine : official journal of the American College of Medical Genetics)
[2019, 21(5):1058-1064]

Cited: 3 times

View full text PDF listing >>



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

Alice Poisson, Nicolas Chatron, Audrey Labalme, Marianne Till, Emmanuel Broussolle, Damien Sanlaville, Caroline Demily, Gaetan Lesca,

Biol. Psychiatry (Biological psychiatry)
[2019, 85(4):e17-e19]

Cited: 1 time

View full text PDF listing >>



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

Caroline Demily, Gaétan Lesca, Alice Poisson, Marianne Till, Giulia Barcia, Nicolas Chatron, Damien Sanlaville, Arnold Munnich,

The 22q11.2 duplication is a variably penetrant copy number variant (CNV) associated with a broad spectrum of clinical manifestations including autism spectrum disorders (ASD), and epilepsy. Here, we report on pathogenic HUWE1 and KIF1A mutations in two severely affected ASD/ID participants carrying a 22q11.2 duplication. Based on previous studies, this ... Read more >>

J Autism Dev Disord (Journal of autism and developmental disorders)
[2018, 48(8):2886-2889]

Cited: 5 times

View full text PDF listing >>



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

Marie-Laure Mathieu, Julitta de Bellescize, Marianne Till, Vincent Flurin, Audrey Labalme, Nicolas Chatron, Damien Sanlaville, Nicole Chemaly, Vincent des Portes, Karine Ostrowsky, Alexis Arzimanoglou, Gaëtan Lesca,

Christianson syndrome (CS) is a X-linked neurodevelopmental disorder, including severe intellectual disability (ID), progressive microcephaly, ataxia, autistic behaviour (ASD), near absent speech, and epilepsy. Electrical status epilepticus in sleep (ESES) has been reported in two patients. We describe five male patients from three unrelated families with Christianson syndrome caused by ... Read more >>

Eur. J. Paediatr. Neurol. (European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society)
[2018, 22(6):1124-1132]

Cited: 2 times

View full text PDF listing >>



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

Sébastien Viel, Elodie Cheyssac, Rémi Pescarmona, Laurie Besson, Marianne Till, Loïc Viremouneix, Isabelle Touitou, Guillaume Sarrabay, Thierry Walzer, Alexandre Belot,

Ann. Rheum. Dis. (Annals of the rheumatic diseases)
[2018, 77(11):1697-1698]

Cited: 3 times

View full text PDF listing >>



Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

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,

The Xq28 duplication involving the MECP2 gene (MECP2 duplication) has been mainly described in male patients with severe developmental delay (DD) associated with spasticity, stereotypic movements and recurrent infections. Nevertheless, only a few series have been published. We aimed to better describe the phenotype of this condition, with a focus ... Read more >>

J. Med. Genet. (Journal of medical genetics)
[2018, 55(6):359-371]

Cited: 3 times

View full text PDF listing >>



Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study.

Sandra Martin-Brevet, Borja Rodríguez-Herreros, Jared A Nielsen, Clara Moreau, Claudia Modenato, Anne M Maillard, Aurélie Pain, Sonia Richetin, Aia E Jønch, Abid Y Qureshi, Nicole R Zürcher, Philippe Conus, , , Wendy K Chung, Elliott H Sherr, John E Spiro, Ferath Kherif, Jacques S Beckmann, Nouchine Hadjikhani, Alexandre Reymond, Randy L Buckner, Bogdan Draganski, Sébastien Jacquemont,

BACKGROUND:16p11.2 breakpoint 4 to 5 copy number variants (CNVs) increase the risk for developing autism spectrum disorder, schizophrenia, and language and cognitive impairment. In this multisite study, we aimed to quantify the effect of 16p11.2 CNVs on brain structure. METHODS:Using voxel- and surface-based brain morphometric methods, we analyzed structural magnetic ... Read more >>

Biol. Psychiatry (Biological psychiatry)
[2018, 84(4):253-264]

Cited: 7 times

View full text PDF listing >>



Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations.

Julie Coton, Audrey Labalme, Marianne Till, Gerald Bussy, Sonia Krifi Papoz, Gaetan Lesca, Delphine Heron, Damien Sanlaville, Patrick Edery, Vincent des Portes, Massimiliano Rossi,

Chromosomal microarray (CMA) can detect pathogenic copy number variations in 15-20% of individuals with intellectual disability and in 10% of patients with autism spectrum disorders. The diagnostic rate in specific learning disorders (SLD) is unknown. Our study emphasizes the usefulness of CMA in the diagnostic workout assessment of familial SLD. ... Read more >>

Clin Case Rep (Clinical case reports)
[2018, 6(5):827-834]

Cited: 0 times

View full text PDF listing >>



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

Lyvia Marlet, Eudeline Alix, Marianne Till, Fabienne Raskin-Champion, Jocelyne Attia, Dominique Boggio, Damien Sanlaville, Caroline Schluth-Bolard,

We report on a prenatally diagnosed unusual case of inverted terminal duplication of the short arm of chromosome 2, leading to interstitial telomeric sequences (ITSs) and partial trisomy 2p. To our knowledge, there are only 4 further cases of pure partial trisomy 2p reported prenatally. Here, the mother was referred ... Read more >>

Cytogenet. Genome Res. (Cytogenetic and genome research)
[2017, 153(3):117-124]

Cited: 1 time

View full text PDF listing >>



Early repolarization syndrome caused by de novo duplication of KCND3 detected by next-generation sequencing.

Samuel Chauveau, Alexandre Janin, Marianne Till, Elodie Morel, Philippe Chevalier, Gilles Millat,

HeartRhythm Case Rep (HeartRhythm case reports)
[2017, 3(12):574-578]

Cited: 1 time

View full text PDF listing >>



Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1.

Nicolas Chatron, Lucie Thibault, James Lespinasse, Audrey Labalme, Caroline Schluth-Bolard, Marianne Till, Patrick Edery, Renaud Touraine, Vincent des Portes, Gaetan Lesca, Damien Sanlaville,

We report a 3-generation family in which 2 Xp copy number variations (CNVs) co-segregate. The proband presented with syndromic intellectual disability. The CNV had been revealed by conventional karyotyping, identifying a large Xp22 duplication causing an Xp functional disomy. Family studies found that this duplication was inherited from the proband's ... Read more >>

Mol Syndromol (Molecular syndromology)
[2017, 8(6):325-330]

Cited: 0 times

View full text PDF listing >>



Advertisement

Disclaimer
1.315 s