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Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome.

Pierre-Henri Roux-Levy, Marie Bournez, Alice Masurel, Nolwenn Jean, Sophie Chancenotte, Mathieu Bordes, Frédérique Debomy, Delphine Minot, Emilie Schmitt, Sandrine Vinault, Elodie Gautier, Didier Lacombe, Sylvie Odent, Myriam Mikaty, Sylvie Manouvrier, Jamal Ghoumid, David Geneviève, Natacha Lehman, Nicole Philip, Patrick Edery, Jenny Cornaton, Jennifer Gallard, Delphine Héron, Coralie Rastel, Frédéric Huet, Christel Thauvin-Robinet, Alain Verloes, Christine Binquet, Maïté Tauber, Catherine Lejeune, Laurence Faivre,

Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder with a characteristic behavioural phenotype. A multidisciplinary approach to care is required to prevent multiple medical complications in individuals affected by PWS. The aim of this study was to describe the rehabilitation, medical care, educational and social support provided to school-aged ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, :104064]

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A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability.

Laurie-Anne Sapey-Triomphe, Julie Reversat, Gaëtan Lesca, Nicolas Chatron, Marina Bussa, Sylvie Mazoyer, Christina Schmitz, Sandrine Sonié, Patrick Edery,

BACKGROUND:In order to be able to provide accurate genetic counseling to patients with Autism Spectrum Disorder (ASD), it is crucial to identify correlations between heterogeneous phenotypes and genetic alterations. Among the hundreds of de novo pathogenic variants reported in ASD, single-nucleotide variations and small insertions/deletions were reported in TBR1. This ... Read more >>

Hum Genomics (Human genomics)
[2020, 14(1):32]

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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]

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Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability.

Godelieve Morel, Céline Duhamel, Simon Boussion, Frédéric Frénois, Gaetan Lesca, Nicolas Chatron, Audrey Labalme, Damien Sanlaville, Patrick Edery, Julien Thevenon, Laurence Faivre, Alice Fassier, Olivier Prodhomme, Fabienne Escande, Sylvie Manouvrier, Florence Petit, David Geneviève, Massimiliano Rossi,

PITX1 is a homeobox transcription factor essential for hindlimb morphogenesis. Two PITX1-related human disorders have been reported to date: PITX1 ectopic expression causes Liebenberg syndrome, characterized by malformation of upper limbs showing a "lower limb" appearance; PITX1 deletions or missense variation cause a syndromic picture including clubfoot, tibial hemimelia, and ... Read more >>

Hum. Mutat. (Human mutation)
[2020, 41(9):1499-1506]

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The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms

Nicolas Chatron, Giuliana Giannuzzi, Pierre-Antoine Rollat-Farnier, Flavie Diguet, Eleonora Porcu, Tony Yammine, Kevin Uguen, Zohra-Lydia Bellil, Julia Lauer Zillhardt, Arthur Sorlin, Flavie Ader, Alexandra Afenjar, Joris Andrieux, Claire Bardel, Eduardo Calpena, Sandra Chantot-Bastaraud, Patrick Callier, Nora Chelloug, Emilie Chopin, Marie-Pierre Cordier, Christèle Dubourg, Laurence Faivre, Françoise Girard, Solveig Heide, Yvan Herenger, Sylvie Jaillard, Boris Keren, Samantha Knight, James Lespinasse, Laurence Lohmann, Nathalie Marle, Reza Maroofian, Alice Masurel-Paulet, Michèle Mathieu-Dramard, Corinne Metay, Alistair Pagnamenta, Marie-France Portnoï, Fabienne Prieur, Marlène Rio, Jean-Pierre Siffroi, Stéphanie Valence, Jenny Taylor, Andrew Wilkie, Patrick Edery, Alexandre Reymond, Damien Sanlaville, Caroline Schluth-Bolard,

Abstract The rise of pangenomic molecular assays allowed uncovering complex rearrangements named chromoanagenesis that were hypothesized to result from catastrophic shattering events. Constitutional cases have typically been reported individually preventing identification of common features and uncovering the mechanisms at play. We characterized 20 new chromoanagenesis and discovered yet undescribed features. ... Read more >>

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Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).

Gabriella Vera, Arthur Sorlin, Geoffroy Delplancq, François Lecoquierre, Marie Brasseur-Daudruy, Florence Petit, Thomas Smol, Alban Ziegler, Dominique Bonneau, Estelle Colin, Sandra Mercier, Benjamin Cogné, Stéphane Bézieau, Patrick Edery, Gaetan Lesca, Nicolas Chatron, Isabelle Sabatier, Bénédicte Duban-Bedu, Cindy Colson, Amélie Piton, Benjamin Durand, Yline Capri, Laurence Perrin, Antje Wiesener, Christiane Zweier, Reza Maroofian, Christopher J Carroll, Hamid Galehdari, Neda Mazaheri, Bert Callewaert, Fabienne Giulianno, Khaoula Zaafrane-Khachnaoui, Rebecca Buchert-Lo, Tobias Haack, Janine Magg, Angelika Rieß, Maria Blandfort, Stephan Waldmüller, Veronka Horber, Emanuela Leonardi, Roberta Polli, Licia Turolla, Alessandra Murgia, Thierry Frebourg, Anne Sophie Lebre, Gaël Nicolas, Pascale Saugier-Veber, Anne-Marie Guerrot,

De novo pathogenic variants in the GATAD2B gene have been associated with a syndromic neurodevelopmental disorder (GAND) characterized by severe intellectual disability (ID), impaired speech, childhood hypotonia, and dysmorphic features. Since its first description in 2013, nine patients have been reported in case reports and a series of 50 patients ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, 63(10):104004]

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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]

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Classifying Ectopia Lentis in Marfan Syndrome into Five Grades of Increasing Severity.

Jean-Christophe Zech, Audrey Putoux, Evelyne Decullier, Anne-Emmanuelle Fargeton, Patrick Edery, Henri Plauchu, Sophie Dupuis-Girod,

PURPOSE:To describe a five-grade classification of ectopia lentis in Marfan syndrome (MFS) and to evaluate the positive predictive value of the early grades of ectopia lentis. METHODS:We prospectively included MFS patients and their healthy relatives. The anterior segment examination was classified into grades 0 to 5, and we studied the ... Read more >>

J Clin Med (Journal of clinical medicine)
[2020, 9(3):]

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Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders.

Maude Grelet, Véronique Blanck, Sabine Sigaudy, Nicole Philip, Fabienne Giuliano, Khaoula Khachnaoui, Godelieve Morel, Sarah Grotto, Julia Sophie, Céline Poirsier, James Lespinasse, Laurent Alric, Patrick Calvas, Gihane Chalhoub, Valérie Layet, Arnaud Molin, Cindy Colson, Luisa Marsili, Patrick Edery, Nicolas Lévy, Annachiara De Sandre-Giovannoli,

BACKGROUND:Segmental progeroid syndromes are a heterogeneous group of rare and often severe genetic disorders that have been studied since the twentieth century. These progeroid syndromes are defined as segmental because only some of the features observed during natural aging are accelerated. METHODS:Since 2015, the Molecular Genetics Laboratory in Marseille La ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2019, 14(1):288]

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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]

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Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletion: PAX8 the causing gene?

Thomas Smol, Wassila Ribero-Karrouz, Patrick Edery, Daniela Brindusa Gorduza, Sophie Catteau-Jonard, Sylvie Manouvrier-Hanu, Jamal Ghoumid,

Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a rare malformative disorder, characterized by congenital aplasia of the uterus and the upper two thirds of the vagina (MIM #277000). For a majority of patients, the disorder remained without identified genetic cause. However, four recurrent microdeletions, i.e. 1q21.1-16p11.2-17q12 and 22q11.21, as well as variants in ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, 63(4):103812]

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Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.

Kathleen A Williamson, H Nikki Hall, Liusaidh J Owen, Benjamin J Livesey, Isabel M Hanson, G G W Adams, Simon Bodek, Patrick Calvas, Bruce Castle, Michael Clarke, Alexander T Deng, Patrick Edery, Richard Fisher, Gabriele Gillessen-Kaesbach, Elise Heon, Jane Hurst, Dragana Josifova, Birgit Lorenz, Shane McKee, Francoise Meire, Anthony T Moore, Michael Parker, Charlotte M Reiff, Jay Self, Edward S Tobias, Joke B G M Verheij, Marjolaine Willems, Denise Williams, Veronica van Heyningen, Joseph A Marsh, David R FitzPatrick,

PURPOSE:Most classical aniridia is caused by PAX6 haploinsufficiency. PAX6 missense variants can be hypomorphic or mimic haploinsufficiency. We hypothesized that missense variants also cause previously undescribed disease by altering the affinity and/or specificity of PAX6 genomic interactions. METHODS:We screened PAX6 in 372 individuals with bilateral microphthalmia, anophthalmia, or coloboma (MAC) ... Read more >>

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2020, 22(3):598-609]

Cited: 3 times

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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

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Difficulties adapting to Nail-Patella syndrome: A qualitative study of patients' perspectives.

Laura Geerts-Crabbé, Pascal Antoine, Elodie Brugallé, Jamal Ghoumid, Laurence Bellengier, Patrick Edery, Delphine Heron, Sylvie Manouvrier-Hanu, Carole Fantini-Hauwel,

Nail-Patella syndrome (NPS) is a genetic disorder generating physical malformations and, in approximately one in three cases, ocular and renal damage. The present research aimed to deeply understand patients' subjective experience with NPS, particularly the aspects of the syndrome that affect patients' adaptation and to propose interventions that can improve ... Read more >>

J Genet Couns (Journal of genetic counseling)
[2019, 28(5):1011-1020]

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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]

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

Cyril Mignot, Aoife C McMahon, Claire Bar, Philippe M Campeau, Claire Davidson, Julien Buratti, Caroline Nava, Marie-Line Jacquemont, Marilyn Tallot, Mathieu Milh, Patrick Edery, Pauline Marzin, Giulia Barcia, Christine Barnerias, Claude Besmond, Thierry Bienvenu, Ange-Line Bruel, Ledia Brunga, Berten Ceulemans, Christine Coubes, Ana G Cristancho, Fiona Cunningham, Marie-Bertille Dehouck, Elizabeth J Donner, Bénédicte Duban-Bedu, Christèle Dubourg, Elena Gardella, Julie Gauthier, David Geneviève, Stéphanie Gobin-Limballe, Ethan M Goldberg, Eveline Hagebeuk, Fadi F Hamdan, Miroslava Hančárová, Laurence Hubert, Christine Ioos, Shoji Ichikawa, Sandra Janssens, Hubert Journel, Anna Kaminska, Boris Keren, Marije Koopmans, Caroline Lacoste, Petra Laššuthová, Damien Lederer, Daphné Lehalle, Dragan Marjanovic, Julia Métreau, Jacques L Michaud, Kathryn Miller, Berge A Minassian, Joannella Morales, Marie-Laure Moutard, Arnold Munnich, Xilma R Ortiz-Gonzalez, Jean-Marc Pinard, Darina Prchalová, Audrey Putoux, Chloé Quelin, Alyssa R Rosen, Joelle Roume, Elsa Rossignol, Marleen E H Simon, Thomas Smol, Natasha Shur, Ivan Shelihan, Katalin Štěrbová, Emílie Vyhnálková, Catheline Vilain, Julie Soblet, Guillaume Smits, Samuel P Yang, Jasper J van der Smagt, Peter M van Hasselt, Marjan van Kempen, Sarah Weckhuysen, Ingo Helbig, Laurent Villard, Delphine Héron, Bobby Koeleman, Rikke S Møller, Gaetan Lesca, Katherine L Helbig, Rima Nabbout, Nienke E Verbeek, Christel Depienne,

This Article was originally published under Nature Research's License to Publish, but has now been made available under a CC BY 4.0 license. The PDF and HTML versions of the Article have been modified accordingly. ... Read more >>

Genet. Med. (Genetics in medicine : official journal of the American College of Medical Genetics)
[2019, 21(8):1897-1898]

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Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.

Nicolas Chatron, Kevin Cassinari, Olivier Quenez, Stéphanie Baert-Desurmont, Claire Bardel, Marie-Pierre Buisine, Eduardo Calpena, Yline Capri, Jordi Corominas Galbany, Flavie Diguet, Patrick Edery, Bertrand Isidor, Audrey Labalme, Cedric Le Caignec, Jonathan Lévy, François Lecoquierre, Pierre Lindenbaum, Olivier Pichon, Pierre-Antoine Rollat-Farnier, Thomas Simonet, Pascale Saugier-Veber, Anne-Claude Tabet, Annick Toutain, Andrew O M Wilkie, Gaetan Lesca, Damien Sanlaville, Gaël Nicolas, Caroline Schluth-Bolard,

Human retrocopies, that is messenger RNA transcripts benefitting from the long interspersed element 1 machinery for retrotransposition, may have specific consequences for genomic testing. Next genetration sequencing (NGS) techniques allow the detection of such mobile elements but they may be misinterpreted as genomic duplications or be totally overlooked. We report ... Read more >>

Hum. Mutat. (Human mutation)
[2019, 40(11):1993-2000]

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Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

Anne-Claude Tabet, Thomas Rolland, Marie Ducloy, Jonathan Lévy, Julien Buratti, Alexandre Mathieu, Damien Haye, Laurence Perrin, Céline Dupont, Sandrine Passemard, Yline Capri, Alain Verloes, Séverine Drunat, Boris Keren, Cyril Mignot, Isabelle Marey, Aurélia Jacquette, Sandra Whalen, Eva Pipiras, Brigitte Benzacken, Sandra Chantot-Bastaraud, Alexandra Afenjar, Delphine Héron, Cédric Le Caignec, Claire Beneteau, Olivier Pichon, Bertrand Isidor, Albert David, Laila El Khattabi, Stephan Kemeny, Laetitia Gouas, Philippe Vago, Anne-Laure Mosca-Boidron, Laurence Faivre, Chantal Missirian, Nicole Philip, Damien Sanlaville, Patrick Edery, Véronique Satre, Charles Coutton, Françoise Devillard, Klaus Dieterich, Marie-Laure Vuillaume, Caroline Rooryck, Didier Lacombe, Lucile Pinson, Vincent Gatinois, Jacques Puechberty, Jean Chiesa, James Lespinasse, Christèle Dubourg, Chloé Quelin, Mélanie Fradin, Hubert Journel, Annick Toutain, Dominique Martin, Abdelamdjid Benmansour, Claire S Leblond, Roberto Toro, Frédérique Amsellem, Richard Delorme, Thomas Bourgeron,

[This corrects the article DOI: 10.1038/s41525-017-0035-2.]. ... Read more >>

(NPJ genomic medicine)
[2019, 4:16]

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Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder.

Julie Masson, Caroline Demily, Nicolas Chatron, Audrey Labalme, Pierre-Antoine Rollat-Farnier, Caroline Schluth-Bolard, Brigitte Gilbert-Dussardier, Fabienne Giuliano, Renaud Touraine, Sylvie Tordjman, Alain Verloes, Giuseppe Testa, Damien Sanlaville, Patrick Edery, Gaetan Lesca, Massimiliano Rossi,

Williams Beuren syndrome (WBS) is a multiple malformations/intellectual disability (ID) syndrome caused by 7q11.23 microdeletion and clinically characterized by a typical neurocognitive profile including excessive talkativeness and social disinhibition, often defined as "overfriendliness" and "hyersociability". WBS is generally considered as the polar opposite phenotype to Autism Spectrum Disorder (ASD). Surprisingly, ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2019, 14(1):121]

Cited: 1 time

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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

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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

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Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia.

Laurence Duplomb, Julie Rivière, Gaëtan Jego, Romain Da Costa, Arlette Hammann, Jessica Racine, Alain Schmitt, Nathalie Droin, Claude Capron, Marie-Anne Gougerot-Pocidalo, Laurence Dubrez, Bernard Aral, Arnaud Lafon, Patrick Edery, Jamal Ghoumid, Edward Blair, Salima El Chehadeh-Djebbar, Virginie Carmignac, Julien Thevenon, Julien Guy, François Girodon, Jean-Noël Bastie, Laurent Delva, Laurence Faivre, Christel Thauvin-Robinet, Eric Solary,

Cohen syndrome (CS) is a rare genetic disorder due to mutations in VPS13B gene. Among various clinical and biological features, CS patients suffer from inconsistent neutropenia, which is associated with recurrent but minor infections. We demonstrate here that this neutropenia results from an exaggerate rate of neutrophil apoptosis. Besides this ... Read more >>

J. Mol. Med. (Journal of molecular medicine (Berlin, Germany))
[2019, 97(5):633-645]

Cited: 1 time

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GRIN2A-related disorders: genotype and functional consequence predict phenotype.

Vincent Strehlow, Henrike O Heyne, Danique R M Vlaskamp, Katie F M Marwick, Gabrielle Rudolf, Julitta de Bellescize, Saskia Biskup, Eva H Brilstra, Oebele F Brouwer, Petra M C Callenbach, Julia Hentschel, Edouard Hirsch, Peter C Kind, Cyril Mignot, Konrad Platzer, Patrick Rump, Paul A Skehel, David J A Wyllie, Giles E Hardingham, Conny M A van Ravenswaaij-Arts, Gaetan Lesca, Johannes R Lemke, ,

Alterations of the N-methyl-d-aspartate receptor (NMDAR) subunit GluN2A, encoded by GRIN2A, have been associated with a spectrum of neurodevelopmental disorders with prominent speech-related features, and epilepsy. We performed a comprehensive assessment of phenotypes with a standardized questionnaire in 92 previously unreported individuals with GRIN2A-related disorders. Applying the criteria of the ... Read more >>

Brain (Brain : a journal of neurology)
[2019, 142(1):80-92]

Cited: 7 times

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The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance.

Daphné Lehalle, Umut Altunoglu, Ange-Line Bruel, Mirna Assoum, Yannis Duffourd, Alice Masurel, Geneviève Baujat, Bettina Bessieres, Guillaume Captier, Patrick Edery, Nursel H Elçioğlu, David Geneviève, Alice Goldenberg, Delphine Héron, Sarah Grotto, Sandrine Marlin, Audrey Putoux, Massimiliano Rossi, Pascale Saugier-Veber, Stéphane Triau, Christelle Cabrol, Myriam Vézain, Catherine Vincent-Delorme, Christel Thauvin-Robinet, Julien Thevenon, Pierre Vabres, Patrick Callier, Hulya Kayserili, Laurence Faivre,

The oculoauriculofrontonasal syndrome (OAFNS) is a rare disorder characterized by the association of frontonasal dysplasia (widely spaced eyes, facial cleft, and nose abnormalities) and oculo-auriculo-vertebral spectrum (OAVS)-associated features, such as preauricular ear tags, ear dysplasia, mandibular asymmetry, epibulbar dermoids, eyelid coloboma, and costovertebral anomalies. The etiology is unknown so far. ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2018, 176(12):2740-2750]

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

Alice Poisson, Gaetan Lesca, Nicolas Chatron, Emilie Favre, Vincent Cottin, Delphine Gamondes, Damien Sanlaville, Patrick Edery, Sophie Giraud, Caroline Demily, Sophie Dupuis-Girod,

Hereditary hemorrhagic telangiectasia is usually linked to the presence of a pathogenic mutation ACVRL1 or ENG. Thus, apparently there is no benefit to perform an array CGH in case of HHT. However, ENG has been involved in a contiguous gene syndrome due to a de novo 9q33.3q34.11 microdeletion. We describe ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2019, 62(11):103565]

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