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1. Full Text Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
by Leblond, Claire S and Nava, Caroline and Polge, Anne and Gauthier, Julie and Huguet, Guillaume and Lumbroso, Serge and Giuliano, Fabienne and Stordeur, Coline and Depienne, Christel and Mouzat, Kevin and Pinto, Dalila and Howe, Jennifer and Lemière, Nathalie and Durand, Christelle M and Guibert, Jessica and Ey, Elodie and Toro, Roberto and Peyre, Hugo and Mathieu, Alexandre and Amsellem, Frédérique and Rastam, Maria and Gillberg, I. Carina and Rappold, Gudrun A and Holt, Richard and Monaco, Anthony P and Maestrini, Elena and Galan, Pilar and Heron, Delphine and Jacquette, Aurélia and Afenjar, Alexandra and Rastetter, Agnès and Brice, Alexis and Devillard, Françoise and Assouline, Brigitte and Laffargue, Fanny and Lespinasse, James and Chiesa, Jean and Rivier, François and Bonneau, Dominique and Regnault, Beatrice and Zelenika, Diana and Delepine, Marc and Lathrop, Mark and Sanlaville, Damien and Schluth-Bolard, Caroline and Edery, Patrick and Perrin, Laurence and Tabet, Anne Claude and Schmeisser, Michael J and Boeckers, Tobias M and Coleman, Mary and Sato, Daisuke and Szatmari, Peter and Scherer, Stephen W and Rouleau, Guy A and Betancur, Catalina and Leboyer, Marion and Gillberg, Christopher and Delorme, Richard and Bourgeron, Thomas and Gillberg Neuropsychiatry Centre and Sahlgrenska akademin and Göteborgs universitet and Gothenburg University and Gillbergcentrum and Sahlgrenska Academy
PLoS Genetics, ISSN 1553-7390, 09/2014, Volume 10, Issue 9, p. e1004580
SHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on... 
MUTANT MICE | DE-NOVO MUTATIONS | GENE | DIAGNOSTIC INTERVIEW | SCAFFOLDING PROTEIN SHANK3 | SYNAPTIC-TRANSMISSION | GENETICS & HEREDITY | COPY NUMBER VARIATION | REARRANGEMENTS | BEHAVIORS | 22Q13 DELETION SYNDROME | Humans | Male | Cognition Disorders - genetics | DNA Copy Number Variations - genetics | Synapses - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Case-Control Studies | Intellectual Disability - genetics | Child Development Disorders, Pervasive - genetics | Neurons - physiology | Cognition - physiology | Female | Child | Autism | Genetic aspects | Research | Gene mutations | Analysis | Risk factors | Life Sciences | Genetics | Psykiatri | Psychiatry | Proteins | Cognitive ability | Mutation | Behavior | Clinical medicine | Chromosomes | Cell adhesion & migration | Meta-analysis
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2. Full Text Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders
by Nava, Caroline and Keren, Boris and Mignot, Cyril and Rastetter, Agnès and Chantot-Bastaraud, Sandra and Faudet, Anne and Fonteneau, Eric and Amiet, Claire and Laurent, Claudine and Jacquette, Aurélia and Whalen, Sandra and Afenjar, Alexandra and Périsse, Didier and Doummar, Diane and Dorison, Nathalie and Leboyer, Marion and Siffroi, Jean-Pierre and Cohen, David and Brice, Alexis and Héron, Delphine and Depienne, Christel
European Journal of Human Genetics, ISSN 1018-4813, 2014, Volume 22, Issue 1, pp. 71 - 78
Copy number variants (CNVs) have repeatedly been found to cause or predispose to autism spectrum disorders (ASDs). For diagnostic purposes, we screened 194... 
autism spectrum disorders | copy number variants | autosomal recessive inheritance | genetic interactions | 15q11-q12 triplication | SUBTYPE | 3Q29 MICRODELETION SYNDROME | BIOCHEMISTRY & MOLECULAR BIOLOGY | RISK | REARRANGEMENTS | HETEROZYGOSITY | DELETION | REGION | DE-NOVO MUTATIONS | GENES | GENETICS & HEREDITY | MICE | Genetic Association Studies | Child Development Disorders, Pervasive - pathology | Oligonucleotide Array Sequence Analysis - methods | Humans | Child, Preschool | Child Development Disorders, Pervasive - etiology | Genotype | Infant | Male | DNA Copy Number Variations - genetics | DNA Methylation - genetics | Chromosomes, Human, Pair 15 - genetics | Cri-du-Chat Syndrome - genetics | Trisomy - genetics | Comparative Genomic Hybridization | Child Development Disorders, Pervasive - genetics | Adolescent | Polymorphism, Single Nucleotide - genetics | Female | Child | Chromosomes, Human, Pair 5 - genetics | Copy number | Genes | Schizophrenia | Genomes | Chromosome deletion | Single-nucleotide polymorphism | Gene deletion | Streptococcus infections | Proteins | Autism | DNA microarrays | Clonal deletion | Chromosome 9 | Genetics | Chromosome 15 | Chromosomes | 15q11–q12 triplication
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3. Full Text Mutation spectrum in the large gtpase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy
by Böhm, Johann and Biancalana, Valerie and DeChene, Elizabeth T and Bitoun, Marc and Pierson, Christopher R and Schaefer, Elise and Karasoy, Hatice and Dempsey, Melissa A and Klein, Fabrice and Dondaine, Nicolas and Kretz, Christine and Haumesser, Nicolas and Poirson, Claire and Toussaint, Anne and Greenleaf, Rebecca S and Barger, Melissa A and Mahoney, Lane J and Kang, Peter B and Zanoteli, Edmar and Vissing, John and Witting, Nanna and Echaniz-Laguna, Andoni and Wallgren-Pettersson, Carina and Dowling, James and Merlini, Luciano and Oldfors, Anders and Ousager, Lilian Bomme and Melki, Judith and Krause, Amanda and Jern, Christina and Oliveira, Acary S.B and Petit, Florence and Jacquette, Aurélia and Chaussenot, Annabelle and Mowat, David and Leheup, Bruno and Cristofano, Michele and Aldea, Juan José Poza and Michel, Fabrice and Furby, Alain and Llona, Jose E. Barcena and Van Coster, Rudy and Bertini, Enrico and Urtizberea, Jon Andoni and Drouin-Garraud, Valérie and roud, Christophe Bé and Prudhon, Bernard and Bedford, Melanie and Mathews, Katherine and Erby, Lori A.H and Smith, Stephen A and Roggenbuck, Jennifer and Crowe, Carol A and Spitale, Allison Brennan and Johal, Sheila C and Amato, Anthony A and Demmer, Laurie A and Jonas, Jessica and Darras, Basil T and Bird, Thomas D and Laurino, Mercy and Welt, Selman I and Trotter, Cynthia and Guicheney, Pascale and Das, Soma and Mandel, Jean-Louis and Beggs, Alan H and Laporte, Jocelyn and Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik and Göteborgs universitet and Gothenburg University and Institute of Biomedicine, Department of Pathology and Institute of Biomedicine, Department of Medical and Clinical Genetics and Sahlgrenska Academy and Institutionen för biomedicin, avdelningen för patologi and Sahlgrenska akademin
Human Mutation, ISSN 1059-7794, 06/2012, Volume 33, Issue 6, pp. 949 - 959
Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy,... 
HMSNII | RYR1 | Hereditary motor and sensory neuropathy type II | Congenital myopathy | ADCNM | Di-CMTB | DNM2 | MTM1 | CMT2M | Endocytosis | CMTD1B | BIN1 | Myotubular myopathy | Charcot-marie-tooth neuropathy | Centronuclear myopathy | DOMAIN | DNM2 MUTATION | NEONATAL ONSET | centronuclear myopathy | myotubular myopathy | RYR1 MUTATIONS | GENETICS & HEREDITY | endocytosis | MICE | congenital myopathy | MARIE-TOOTH-DISEASE | hereditary motor and sensory neuropathy type II | ACTIN | AD-CNM | Charcot-Marie-Tooth neuropathy | SKELETAL-MUSCLE | DI-CMTB | GENE | MUSCLE INVOLVEMENT | Amino Acid Sequence | Sequence Alignment | Dynamin II - chemistry | Genes, Dominant | Genetic Association Studies | Humans | Dynamin II - genetics | Molecular Sequence Data | Myopathies, Structural, Congenital - diagnosis | Myopathies, Structural, Congenital - genetics | Mutation | Polymorphism, Genetic | Life Sciences | Biochemistry, Molecular Biology | Computer Science | Genetics | Molecular biology | Bioinformatics | Human genetics | Charcot–Marie–Tooth neuropathy | chemistry | Dynamin II | Congenital | Genes | Structural | Genetic | diagnosis | Myopathies | Klinisk medicin | Clinical Medicine | genetics | Dominant | Polymorphism
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4. Full Text Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2
by Milh, Mathieu and Boutry-Kryza, Nadia and Sutera-Sardo, Julie and Mignot, Cyril and Auvin, Stéphane and Lacoste, Caroline and Villeneuve, Nathalie and Roubertie, Agathe and Heron, Bénédicte and Carneiro, Maryline and Kaminska, Anna and Altuzarra, Cécilia and Blanchard, Gaëlle and Ville, Dorothée and Barthez, Marie Anne and Heron, Delphine and Gras, Domitille and Afenjar, Alexandra and Dorison, Nathalie and Doummar, Dianne and Billette De Villemeur, Thierry and An, Isabelle and Jacquette, Aurélia and Charles, Perrine and Perrier, Julie and Isidor, Bertrand and Vercueil, Laurent and Chabrol, Brigitte and Badens, Catherine and Lesca, Gaétan and Villard, Laurent
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2013, Volume 8, Issue 1, p. 80
Background: Early onset epileptic encephalopathies (EOEEs) are dramatic heterogeneous conditions in which aetiology, seizures and/or interictal EEG have a... 
Genetics | Encephalopathy | Epilepsy | KCNQ2 | INFANTILE EPILEPTIC ENCEPHALOPATHY | MEDICINE, RESEARCH & EXPERIMENTAL | PHENOTYPE | POTASSIUM CHANNEL GENE | OHTAHARA-SYNDROME | FAMILY | Brain - diagnostic imaging | Genetic Predisposition to Disease | Epilepsy, Benign Neonatal - diagnosis | Humans | Infant | Male | Electroencephalography | Epilepsy, Benign Neonatal - pathology | Radiography | Magnetic Resonance Imaging | Phenotype | Epilepsy, Benign Neonatal - genetics | KCNQ2 Potassium Channel - genetics | Epilepsy - genetics | Female | Mutation | Care and treatment | Gene mutations | Physiological aspects | Genetic aspects | Research | Risk factors | Infants (Newborn) | Medical research | Patient outcomes | Medicine, Experimental | Seizures (Medicine) | Life Sciences
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5. Full Text Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome
by Legendre, Marine and Abadie, Véronique and Attié‐Bitach, Tania and Philip, Nicole and Busa, Tiffany and Bonneau, Dominique and Colin, Estelle and Dollfus, Hélène and Lacombe, Didier and Toutain, Annick and Blesson, Sophie and Julia, Sophie and Martin‐Coignard, Dominique and Geneviève, David and Leheup, Bruno and Odent, Sylvie and Jouk, Pierre‐Simon and Mercier, Sandra and Faivre, Laurence and Vincent‐Delorme, Catherine and Francannet, Christine and Naudion, Sophie and Mathieu‐Dramard, Michèle and Delrue, Marie‐Ange and Goldenberg, Alice and Héron, Delphine and Parent, Philippe and Touraine, Renaud and Layet, Valérie and Sanlaville, Damien and Quélin, Chloé and Moutton, Sébastien and Fradin, Mélanie and Jacquette, Aurélia and Sigaudy, Sabine and Pinson, Lucile and Sarda, Pierre and Guerrot, Anne‐Marie and Rossi, Massimiliano and Masurel‐Paulet, Alice and El Chehadeh, Salima and Piguel, Xavier and Rodriguez‐Ballesteros, Montserrat and Ragot, Stéphanie and Lyonnet, Stanislas and Bilan, Frédéric and Gilbert‐Dussardier, Brigitte
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 12/2017, Volume 175, Issue 4, pp. 417 - 430
CHARGE syndrome (CS) is a genetic disorder whose first description included Coloboma, Heart disease, Atresia of choanae, Retarded growth and development,... 
phenotype | CHARGE syndrome | gene | CHD7 | genotype | CHD7 gene | GENETICS & HEREDITY | UPDATE | PROPOSAL | MUTATIONS | SPECTRUM | DIAGNOSTIC-CRITERIA | ASSOCIATION | Deafness | Medical research | Gene mutations | Analysis | Medicine, Experimental | Genetic aspects | Heart diseases | Hypoplasia | Temporal bone | Audiometry | Anosmia | Pituitary (anterior) | Gonadotropins | Criteria | Patients | Coronary artery disease | Hypogonadism | Holoprosencephaly | Choanal atresia | Defects | Magnetic resonance imaging | Computed tomography | Pituitary | Ear | Olfactory bulb | Diagnostic systems | Anomalies | Life Sciences | Genetics
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6. Full Text Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability
by Heide, Solveig, MD and Keren, Boris, MD, PhD and Billette de Villemeur, Thierry, MD, PhD and Chantot-Bastaraud, Sandra, MD and Depienne, Christel, PhD and Nava, Caroline, MD, PhD and Mignot, Cyril, MD, PhD and Jacquette, Aurélia, MD and Fonteneau, Eric and Lejeune, Elodie and Mach, Corinne and Marey, Isabelle, MD and Whalen, Sandra, MD and Lacombe, Didier, MD, PhD and Naudion, Sophie, MD and Rooryck, Caroline, MD, PhD and Toutain, Annick, MD, PhD and Caignec, Cédric Le, MD, PhD and Haye, Damien, MD and Olivier-Faivre, Laurence, MD, PhD and Masurel-Paulet, Alice, MD and Thauvin-Robinet, Christel, MD, PhD and Lesne, Fabien, CRA and Faudet, Anne, CRA and Ville, Dorothée, MD and des Portes, Vincent, MD, PhD and Sanlaville, Damien, MD, PhD and Siffroi, Jean-Pierre, MD, PhD and Moutard, Marie-Laure, MD and Héron, Delphine, MD
Journal of Pediatrics, The, ISSN 0022-3476, 2017, Volume 185, pp. 160 - 166.e1
Objective To evaluate the role that chromosomal micro-rearrangements play in patients with both corpus callosum abnormality and intellectual disability, we... 
Pediatrics | chromosomal microarray | CNV | corpus callosum | SNP array | agenesis of corpus callosum | dysgenesis of corpus callosum | DIAGNOSIS | 3Q29 MICRODELETION SYNDROME | AGENESIS | PHENOTYPE | PEDIATRICS | DUPLICATION | EXPRESSION | CHILDREN | Prospective Studies | Chromosome Duplication | Humans | Child, Preschool | Male | Zinc Finger E-box-Binding Homeobox 1 - genetics | DNA Copy Number Variations | Intellectual Disability - genetics | Young Adult | Chromosomes, Human, Pair 3 | Hedgehog Proteins - genetics | Microarray Analysis | Agenesis of Corpus Callosum - genetics | Cell Cycle Proteins - genetics | Adult | Female | Child | Chromosome Deletion | Basic Helix-Loop-Helix Transcription Factors - genetics | Chromosomes, Human, Pair 8 | Chromosomes, Human, Pair 7 | Chromosomes, Human, Pair 19 | Adolescent | Polymorphism, Single Nucleotide | Chromosomes, Human, Pair 10 | Analysis | Resveratrol
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7. Full Text 29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype
by Monin, Marie-Lorraine and Mignot, Cyril and De Lonlay, Pascale and Héron, Bénédicte and Masurel, Alice and Mathieu-Dramard, Michèle and Lenaerts, Catherine and Thauvin, Christel and Gérard, Marion and Roze, Emmanuel and Jacquette, Aurélia and Charles, Perrine and de Baracé, Claire and Drouin-Garraud, Valérie and Khau Van Kien, Philippe and Cormier-Daire, Valérie and Mayer, Michèle and Ogier, Hélène and Brice, Alexis and Seta, Nathalie and Héron, Delphine
Orphanet journal of rare diseases, ISSN 1750-1172, 2014, Volume 9, Issue 1, p. 207
PMM2-CDG (formerly known as CDG Ia) a deficiency in phosphomannomutase, is the most frequent congenital disorder of glycosylation. The phenotype encompasses a... 
MEDICINE, RESEARCH & EXPERIMENTAL | PMM2-CDG | NEUROLOGICAL PRESENTATION | DEFICIENT GLYCOPROTEIN SYNDROME | Cerebellar ataxia | PMM2 | ATAXIA | IA CDG-IA | IDENTIFICATION | Phosphomannomutase | GENOTYPE/PHENOTYPE CORRELATION | GENETICS & HEREDITY | CONGENITAL DISORDERS | Adult | Congenital disorder of glycosylation | MUTATIONS | SPECTRUM | France - epidemiology | Phosphotransferases (Phosphomutases) - genetics | Humans | Middle Aged | Male | Young Adult | Phenotype | Adolescent | Age of Onset | Female | Retrospective Studies | Congenital Disorders of Glycosylation - epidemiology | Phosphotransferases (Phosphomutases) - deficiency | Congenital Disorders of Glycosylation - genetics | Cohort Studies | Congenital Disorders of Glycosylation - diagnosis | Care and treatment | Genetic disorders | Abnormalities | Physiological aspects | Glycosylation | Diagnosis | Research | Risk factors | Genotype & phenotype | Walking | Congenital diseases | Child development | Consent | Mortality | Ataxia | Thrombosis | Patients | Metabolic disorders | Age | Blood | Life Sciences | Human health and pathology | Pediatrics | Genetics | Human genetics
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8. Full Text STXBP1‐related encephalopathy presenting as infantile spasms and generalized tremor in three patients
by Mignot, Cyril and Moutard, Marie‐Laure and Trouillard, Oriane and Gourfinkel‐An, Isabelle and Jacquette, Aurélia and Arveiler, Benoit and Morice‐Picard, Fanny and Lacombe, Didier and Chiron, Catherine and Ville, Dorothée and Charles, Perrine and LeGuern, Eric and Depienne, Christel and Héron, Delphine
Epilepsia, ISSN 0013-9580, 10/2011, Volume 52, Issue 10, pp. 1820 - 1827
Purpose:  Dominant mutations in the STXBP1 gene are a recently identified cause of infantile epileptic encephalopathy without metabolic and structural brain... 
Epileptic encephalopathy | Infantile spasms | Tremor | STXBP1 | Haploinsufficiency | CDKL5 MUTATIONS | SPECTRUM | OF-THE-LITERATURE | STXBP1 MUTATIONS | CLINICAL NEUROLOGY | FEATURES | Munc18 Proteins - genetics | Spasms, Infantile - physiopathology | Oligonucleotide Array Sequence Analysis | Brain - physiopathology | Humans | Anticonvulsants - therapeutic use | Infant | Electroencephalography | Tremor - complications | Spasms, Infantile - genetics | Tremor - physiopathology | Mutagenesis, Insertional - genetics | Spasms, Infantile - drug therapy | Tremor - genetics | Polymorphism, Single Nucleotide - genetics | Female | Heterozygote | Spasms, Infantile - complications | Codon | Encephalopathy | Epilepsy | Genes | Cytogenetics | Seizures (Medicine) | Diagnosis | Convulsions & seizures | Nuclear magnetic resonance--NMR | Mutation | Patients | Neuroimaging | Brain | tremor | Nonsense mutation | Insertion | Infants | Antiepileptic agents | Gene deletion | Magnetic resonance imaging | genomics | Seizures
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9. Full Text Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders
by Nava, Caroline and Rupp, Johanna and Boissel, Jean-Paul and Mignot, Cyril and Rastetter, Agnès and Amiet, Claire and Jacquette, Aurélia and Dupuits, Céline and Bouteiller, Delphine and Keren, Boris and Ruberg, Merle and Faudet, Anne and Doummar, Diane and Philippe, Anne and Périsse, Didier and Laurent, Claudine and Lebrun, Nicolas and Guillemot, Vincent and Chelly, Jamel and Cohen, David and Héron, Delphine and Brice, Alexis and Closs, Ellen I and Depienne, Christel
Amino Acids, ISSN 0939-4451, 12/2015, Volume 47, Issue 12, pp. 2647 - 2658
Cationic amino acid transporters (CATs) mediate the entry of L-type cationic amino acids (arginine, ornithine and lysine) into the cells including neurons.... 
Life Sciences | Biochemistry, general | Cationic amino acid transporter | Autism spectrum disorders | Analytical Chemistry | Life Sciences, general | Oligogenism | Biochemical Engineering | Proteomics | Neurobiology | Exome sequencing | Chromosome X | ECOTROPIC RETROVIRUS RECEPTOR | NITRIC-OXIDE SYNTHASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | FOXP2 | COPY-NUMBER VARIATION | INTELLECTUAL DISABILITY | INDIVIDUALS | DE-NOVO MUTATIONS | SUSCEPTIBILITY GENE | SEX-DIFFERENCES | RAT-BRAIN | Amino Acid Sequence | Autism Spectrum Disorder - genetics | Amino Acid Transport Systems, Basic - genetics | Biotinylation | Chromosomes, Human, X - genetics | Oocytes - metabolism | Gene Frequency | Humans | Molecular Conformation | Xenopus laevis | Molecular Sequence Data | Male | Mutation, Missense | Loss of Heterozygosity | Epilepsy - complications | Brain - metabolism | Phenotype | Animals | Pedigree | Epilepsy - genetics | Cell Membrane - metabolism | Mutation | Child | Autism | Amino acids | Analysis | Genomics | Human | Cationic | Disorders | Males | Transporter | Patients | Genetics | Biomolecules | Biochemistry, Molecular Biology | Human genetics | Original
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10. Full Text Recurrent mutations in the CDKL5 gene: Genotype–phenotype relationships
by Bahi‐Buisson, Nadia and Villeneuve, Nathalie and Caietta, Emilie and Jacquette, Aurélia and Maurey, Helene and Matthijs, Gert and Van Esch, Hilde and Delahaye, Andrée and Moncla, Anne and Milh, Mathieu and Zufferey, Flore and Diebold, Bertrand and Bienvenu, Thierry
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2012, Volume 158A, Issue 7, pp. 1612 - 1619
Mutations in the cyclin‐dependent kinase‐like 5 gene ( CDKL5 ) have been described in epileptic encephalopathies in females with infantile spasms with features... 
epileptic encephalopathy | CDKL5 | Rett syndrome | Epileptic encephalopathy | RETT-SYNDROME | MENTAL-RETARDATION | EARLY-ONSET SEIZURES | VARIANT | FEATURES | INACTIVATION | INFANTILE SPASMS | GENETICS & HEREDITY | DISORDER | OF-THE-LITERATURE | Genetic Association Studies | Humans | Protein-Serine-Threonine Kinases - genetics | Infant | Spasms, Infantile - genetics | Intellectual Disability - genetics | Phenotype | Adenosine Triphosphate - metabolism | Female | Protein Interaction Domains and Motifs | Protein-Serine-Threonine Kinases - chemistry | Mutation | Rett Syndrome - genetics | Binding Sites | Infant, Newborn | X Chromosome Inactivation | ATP
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11. Full Text Psychiatric and cognitive phenotype in children and adolescents with myotonic dystrophy
by Douniol, Marie and Jacquette, Aurélia and Guilé, Jean-Marc and Tanguy, Marie-Laure and Angeard, Nathalie and Héron, Delphine and Plaza, Monique and Cohen, David
European Child and Adolescent Psychiatry, ISSN 1018-8827, 2009, Volume 18, Issue 12, pp. 705 - 715
Myotonic dystrophy type 1 (DM1) is the most frequent inherited neuromuscular disorder. The juvenile form has been associated with cognitive and psychiatric... 
Myotonic dystrophy type 1 | Cognitive profile | Juvenile form | Psychiatric phenotype | CTG REPEAT | PSYCHIATRY | PROTEIN-KINASE | PSYCHOLOGY, DEVELOPMENTAL | MUSCULAR-DYSTROPHY | CHILDHOOD | IMPAIRMENT | TYPE-1 DM-1 | ATTENTION-DEFICIT/HYPERACTIVITY DISORDER | PROFILE | PEDIATRICS | ONSET | AGE | Humans | Anxiety Disorders - diagnosis | Child, Preschool | Male | Intelligence - genetics | Intellectual Disability - genetics | Young Adult | Child Development Disorders, Pervasive - diagnosis | Myotonic Dystrophy - genetics | Female | Child | Depressive Disorder - genetics | Child Behavior Disorders - psychology | Child Behavior Disorders - diagnosis | Comorbidity | Self-Injurious Behavior - psychology | Depressive Disorder - diagnosis | Genotype | Anxiety Disorders - psychology | Self-Injurious Behavior - genetics | Phenotype | Attention Deficit Disorder with Hyperactivity - genetics | Child Development Disorders, Pervasive - psychology | Myotonic Dystrophy - psychology | Child Development Disorders, Pervasive - genetics | Intellectual Disability - diagnosis | Adolescent | Internal-External Control | Attention Deficit Disorder with Hyperactivity - psychology | Anxiety Disorders - genetics | Intellectual Disability - psychology | Child Behavior Disorders - genetics | Depressive Disorder - psychology | Genetic Carrier Screening | Neurosciences | Myotonic dystrophy | Analysis | Attention-deficit hyperactivity disorder | Genetic aspects | Learning disabilities | Anxiety
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