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1. Full Text Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
by Redin, Claire and Gérard, Bénédicte and Lauer, Julia and Herenger, Yvan and Muller, Jean and Quartier, Angélique and Masurel-Paulet, Alice and Willems, Marjolaine and Lesca, Gaétan and El-Chehadeh, Salima and Le Gras, Stéphanie and Vicaire, Serge and Philipps, Muriel and Dumas, Michaël and Geoffroy, Véronique and Feger, Claire and Haumesser, Nicolas and Alembik, Yves and Barth, Magalie and Bonneau, Dominique and Colin, Estelle and Dollfus, Hélène and Doray, Bérénice and Delrue, Marie-Ange and Drouin-Garraud, Valérie and Flori, Elisabeth and Fradin, Mélanie and Francannet, Christine and Goldenberg, Alice and Lumbroso, Serge and Mathieu-Dramard, Michèle and Martin-Coignard, Dominique and Lacombe, Didier and Morin, Gilles and Polge, Anne and Sukno, Sylvie and Thauvin-Robinet, Christel and Thevenon, Julien and Doco-Fenzy, Martine and Genevieve, David and Sarda, Pierre and Edery, Patrick and Isidor, Bertrand and Jost, Bernard and Olivier-Faivre, Laurence and Mandel, Jean-Louis and Piton, Amélie
Journal of medical genetics, ISSN 0022-2593, 11/2014, Volume 51, Issue 11, pp. 724 - 736
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Molecular Diagnostic Techniques - methods | Humans | Child, Preschool | Infant | Male | DNA Mutational Analysis - methods | Intellectual Disability - genetics | Young Adult | Intellectual Disability - diagnosis | Adolescent | Adult | Female | High-Throughput Nucleotide Sequencing - methods | Child | Sequence Analysis, DNA - methods | Infant, Newborn | Index Medicus | mutation | causative | 1506 | intellectual disability | high-throughput sequencing | autism | Cognitive and Behavioural Genetics
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2. Full Text Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders
by Beaumont, Marie and Akloul, Linda and Carré, Wilfrid and Quélin, Chloé and Journel, Hubert and Pasquier, Laurent and Fradin, Mélanie and Odent, Sylvie and Hamdi-Rozé, Houda and Watrin, Erwan and Dupé, Valérie and Dubourg, Christèle and David, Véronique
Human genetics, ISSN 0340-6717, 2019, Volume 138, Issue 4, pp. 363 - 374
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genes | Analysis | Animal models | Embryogenesis | Hedgehog protein | Etiology | Polarity | Heritability | Heredity | Genetic factors | Defects | Index Medicus | Life Sciences
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3. Full Text Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome
by Geoffron, Sophie and Abi Habib, Walid and Chantot-Bastaraud, Sandra and Dubern, Béatrice and Steunou, Virginie and Azzi, Salah and Afenjar, Alexandra and Busa, Tiffanny and Pinheiro Canton, Ana and Chalouhi, Christel and Dufourg, Marie-Noëlle and Esteva, Blandine and Fradin, Mélanie and Geneviève, David and Heide, Solveig and Isidor, Bertrand and Linglart, Agnès and Morice Picard, Fanny and Naud-Saudreau, Catherine and Oliver Petit, Isabelle and Philip, Nicole and Pienkowski, Catherine and Rio, Marlène and Rossignol, Sylvie and Tauber, Maithé and Thevenon, Julien and Vu-Hong, Thuy-Ai and Harbison, Madeleine D and Salem, Jennifer and Brioude, Frédéric and Netchine, Irène and Giabicani, Eloïse
The journal of clinical endocrinology and metabolism, ISSN 0021-972X, 07/2018, Volume 103, Issue 7, pp. 2436 - 2446
Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Puberty | Development and progression | Genetic aspects | Russell-Silver syndrome | Methylation | Chromosomes | Health aspects | Body mass index | Genetic variance | Uniparental disomy | Growth rate | Imprinting | DNA methylation | Chromosome deletion | Chromosome 14 | Diagnosis | Preadipocyte factor 1 | Index Medicus | Abridged Index Medicus | Life Sciences | Human health and pathology | Pediatrics | Endocrinology and metabolism
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4. Full Text Weaver Syndrome‐Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro
by Cohen, Ana S.A and Yap, Damian B and Lewis, M.E. Suzanne and Chijiwa, Chieko and Ramos‐Arroyo, Maria A and Tkachenko, Natália and Milano, Valentina and Fradin, Mélanie and McKinnon, Margaret L and Townsend, Katelin N and Xu, Jieqing and Allen, M.I and Ross, Colin J.D and Dobyns, William B and Weaver, David D and Gibson, William T
Human mutation, ISSN 1059-7794, 03/2016, Volume 37, Issue 3, pp. 301 - 307
Weaver syndrome | childhood cancer | histone methyltransferase | H3K27 | EZH2 | Histone methyltransferase | Childhood cancer | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Enhancer of Zeste Homolog 2 Protein - genetics | Enhancer of Zeste Homolog 2 Protein - metabolism | Histone-Lysine N-Methyltransferase - genetics | Polycomb Repressive Complex 2 - genetics | Humans | Infant | Male | Congenital Hypothyroidism - enzymology | Hand Deformities, Congenital - enzymology | Hand Deformities, Congenital - genetics | Histone-Lysine N-Methyltransferase - metabolism | Craniofacial Abnormalities - enzymology | Congenital Hypothyroidism - genetics | Abnormalities, Multiple - enzymology | Female | Polycomb Repressive Complex 2 - metabolism | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Infant, Newborn | Histones | Amino acids | Genetic disorders | Methyltransferases | Methylation | Genotype & phenotype | Congenital diseases | Mutation | Binding sites | Polymorphism | Index Medicus | Life Sciences | Genetics | Human genetics
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5. Full Text Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non‐invasive prenatal diagnosis of achondroplasia
by Orhant, Lucie and Anselem, Olivia and Fradin, Mélanie and Becker, Pierre Hadrien and Beugnet, Caroline and Deburgrave, Nathalie and Tafuri, Gilles and Letourneur, Franck and Goffinet, François and Allach El Khattabi, Laïla and Leturcq, France and Bienvenu, Thierry and Tsatsaris, Vassilis and Nectoux, Juliette
Prenatal diagnosis, ISSN 0197-3851, 05/2016, Volume 36, Issue 5, pp. 397 - 406
Genetics & Heredity | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Receptor, Fibroblast Growth Factor, Type 3 - genetics | Achondroplasia - diagnosis | Humans | Prenatal Diagnosis | Mutation, Missense | Maternal Serum Screening Tests | Sequence Analysis, DNA | Case-Control Studies | DNA - blood | DNA - genetics | Pregnancy | Algorithms | Sensitivity and Specificity | Polymerase Chain Reaction | Female | Achondroplasia - blood | Achondroplasia - genetics | Genetic research | Pregnant women | DNA | Index Medicus | Life Sciences
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6. Full Text A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies
by Coutelier, Marie and Coarelli, Giulia and Monin, Marie-Lorraine and Konop, Juliette and Davoine, Claire-Sophie and Tesson, Christelle and Valter, Remi and Anheim, Mathieu and Behin, Anthony and Castelnovo, Giovanni and Charles, Perrine and David, Albert and Ewenczyk, Claire and Fradin, Melanie and Goizet, Cyril and Hannequin, Didier and Labauge, Pierre and Riant, Florence and Sarda, Pierre and Sznajer, Yves and Tison, Francois and Ullmann, Urielle and Van Maldergem, Lionel and Mochel, Fanny and Brice, Alexis and Stevanin, Giovanni and Durr, Alexandra and SPATAX Network and SPATAX network
Brain (London, England : 1878), ISSN 0006-8950, 2017, Volume 140, Issue 6, pp. 1579 - 1594
CACNA1A | Channelopathies | SPG7 | Cerebellar ataxia | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Metalloendopeptidases - genetics | ATPases Associated with Diverse Cellular Activities | Channelopathies - physiopathology | Humans | Middle Aged | Child, Preschool | Genotype | Male | Young Adult | Cerebellar Ataxia - physiopathology | Channelopathies - genetics | Phenotype | Cerebellar Ataxia - genetics | Genes, Dominant | Adolescent | Age of Onset | Aged, 80 and over | Adult | Female | Aged | Calcium Channels - genetics | Child | Cohort Studies | Index Medicus | Abridged Index Medicus
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7. Full Text Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
by Verheije, Rosalind and Kupchik, Gabriel S and Isidor, Bertrand and Kroes, Hester Y and Lynch, Sally Ann and Hawkes, Lara and Hempel, Maja and Gelb, Bruce D and Ghoumid, Jamal and D’Amours, Guylaine and Chandler, Kate and Dubourg, Christèle and Loddo, Sara and Tümer, Zeynep and Shaw-Smith, Charles and Nizon, Mathilde and Shevell, Michael and Van Hoof, Evelien and Anyane-Yeboa, Kwame and Cerbone, Gaetana and Clayton-Smith, Jill and Cogné, Benjamin and Corre, Pierre and Corveleyn, Anniek and De Borre, Marie and Hjortshøj, Tina Duelund and Fradin, Mélanie and Gewillig, Marc and Goldmuntz, Elizabeth and Hens, Greet and Lemyre, Emmanuelle and Journel, Hubert and Kini, Usha and Kortüm, Fanny and Le Caignec, Ceic and Novelli, Antonio and Odent, Sylvie and Petit, Florence and Revah-Politi, Anya and Stong, Nicholas and Strom, Tim M and van Binsbergen, Ellen and Devriendt, Koenraad and Breckpot, Jeroen and DDD Study and DDD study
European journal of human genetics : EJHG, ISSN 1018-4813, 02/2019, Volume 27, Issue 2, pp. 278 - 290
Heart Defects, Congenital/genetics | Loss of Function Mutation | Genetics(clinical) | Humans | Child, Preschool | Male | Transcription Factors/genetics | Syndrome | Journal Article | Research Support, N.I.H., Extramural | Intellectual Disability/genetics | Young Adult | Phenotype | Research Support, Non-U.S. Gov't | Adolescent | Homeodomain Proteins/genetics | Female | Heterozygote | Genetics | Cleft Palate/genetics | Child | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Homeodomain Proteins - metabolism | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Cleft Palate - genetics | Transcription Factors - genetics | Homeodomain Proteins - genetics | Intellectual Disability - genetics | Transcription Factors - metabolism | Heart Defects, Congenital - genetics | Cleft Palate - pathology | Heart | Phenotypes | Intellectual disabilities | Chromosome 15 | Gene deletion | Genotypes | Defects | Cleft lip/palate | Haploinsufficiency | Index Medicus | Next-generation sequencing | Genetic testing
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