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1. Full Text Refining the phenotype associated with MEF2C point mutations
by Bienvenu, Thierry and Bienvenu, Thierry and Diebold, Bertrand and Diebold, Bertrand and Chelly, Jamel and Chelly, Jamel and Isidor, Bertrand and Isidor, Bertrand
Neurogenetics, ISSN 1364-6745, 2/2013, Volume 14, Issue 1, pp. 71 - 75
Human Genetics | Neurosciences | MEF2C | Biomedicine | Intellectual disability | Hand stereotypies | Molecular Medicine | Mental retardation | Clinical Neurology | Genetics & Heredity | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Strabismus - complications | Humans | Child, Preschool | Molecular Sequence Data | Intellectual Disability - complications | Male | Developmental Disabilities - genetics | Strabismus - genetics | Epilepsy - epidemiology | Intellectual Disability - genetics | DNA Mutational Analysis | Base Sequence | Epilepsy - genetics | Female | Child | MEF2 Transcription Factors | Intellectual Disability - epidemiology | Genetic Association Studies | Myogenic Regulatory Factors - genetics | MADS Domain Proteins - genetics | Epilepsy - complications | Strabismus - epidemiology | Developmental Disabilities - epidemiology | Point Mutation | Phenotype | Adolescent | Developmental Disabilities - complications | Cohort Studies | Genetic aspects | Gene mutations | Mental illness | Epilepsy | Genotype & phenotype | Mutation | Genes | Index Medicus
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2. Full Text Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome
by Besnard, Thomas and Sloboda, Natacha and Goldenberg, Alice and Küry, Sébastien and Cogné, Benjamin and Breheret, Flora and Trochu, Eva and Conrad, Solène and Vincent, Marie and Deb, Wallid and Balguerie, Xavier and Barbarot, Sébastien and Baujat, Geneviève and Ben-Omran, Tawfeg and Bursztejn, Anne-Claire and Carmignac, Virginie and Datta, Alexandre N and Delignières, Aline and Faivre, Laurence and Gardie, Betty and Guéant, Jean-Louis and Kuentz, Paul and Lenglet, Marion and Nassogne, Marie-Cécile and Ramaekers, Vincent and Schnur, Rhonda E and Si, Yue and Torti, Erin and Thevenon, Julien and Vabres, Pierre and Van Maldergem, Lionel and Wand, Dorothea and Wiedemann, Arnaud and Cariou, Bertrand and Redon, Richard and Lamazière, Antonin and Bézieau, Stéphane and Feillet, Francois and Isidor, Bertrand
Genetics in medicine, ISSN 1098-3600, 2019, Volume 21, Issue 9, pp. 2025 - 2035
cholesterol pathway | early-onset epileptic encephalopathy | alopecia | LSS | intellectual disability | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Alopecia - complications | Humans | Child, Preschool | Infant | Intellectual Disability - complications | Male | Developmental Disabilities - genetics | Cholesterol - genetics | Squalene - analogs & derivatives | Squalene - metabolism | Intellectual Disability - genetics | Developmental Disabilities - pathology | Alopecia - genetics | Epilepsy - genetics | Female | Lanosterol - metabolism | Child | Intramolecular Transferases - genetics | Intellectual Disability - pathology | Lanosterol - genetics | Cholesterol - metabolism | Alopecia - pathology | Epilepsy - complications | Whole Exome Sequencing | Phenotype | Pedigree | Age of Onset | Mutation | Developmental Disabilities - complications | Epilepsy - pathology | Biosynthesis | Alopecia | Baldness | Intellectual disabilities | Cholesterol | Index Medicus | Life Sciences | Human health and pathology | Food and Nutrition | Dermatology
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3. Full Text Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type i interferon signaling
by Rice, Gillian I and Del Toro Duany, Yoandris and Jenkinson, Emma M and Forte, Gabriella M. A and Anderson, Beverley H and Ariaudo, Giada and Bader-Meunier, Brigitte and Baildam, Eileen M and Battini, Roberta and Beresford, Michael W and Casarano, Manuela and Chouchane, Mondher and Cimaz, Rolando and Collins, Abigail E and Cordeiro, Nuno J. V and Dale, Russell C and Davidson, Joyce E and De Waele, Liesbeth and Desguerre, Isabelle and Faivre, Laurence and Fazzi, Elisa and Isidor, Bertrand and Lagae, Lieven and Latchman, Andrew R and Lebon, Pierre and Li, Chumei and Livingston, John H and Lourenço, Charles M and Mancardi, Maria Margherita and Masurel-Paulet, Alice and McInnes, Iain B and Menezes, Manoj P and Mignot, Cyril and O'Sullivan, James and Orcesi, Simona and Picco, Paolo P and Riva, Enrica and Robinson, Robert A and Rodriguez, Diana and Salvatici, Elisabetta and Scott, Christiaan and Szybowska, Marta and Tolmie, John L and Vanderver, Adeline and Vanhulle, Catherine and Vieira, Jose Pedro and Webb, Kate and Whitney, Robyn N and Williams, Simon G and Wolfe, Lynne A and Zuberi, Sameer M and Hur, Sun and Crow, Yanick J
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 5, pp. 503 - 509
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Nervous System Malformations - immunology | Humans | Models, Molecular | Molecular Sequence Data | Signal Transduction - genetics | Interferon Type I - immunology | Mutation - genetics | Sequence Analysis, DNA | Interferon-Induced Helicase, IFIH1 | Microsatellite Repeats - genetics | Autoimmune Diseases of the Nervous System - immunology | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Analysis of Variance | Base Sequence | Autoimmune Diseases of the Nervous System - genetics | HEK293 Cells | Electrophoretic Mobility Shift Assay | Nervous System Malformations - genetics | Spectrum Analysis | DEAD-box RNA Helicases - chemistry | Real-Time Polymerase Chain Reaction | Cell receptors | Gene mutations | Interferon | Genetic aspects | Genetic regulation | Health aspects | Proteins | Studies | Genotype & phenotype | Hospitals | Biomedical research | Disease | Womens health | Pathogenesis | Families & family life | Genomes | Mutation | Index Medicus
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4. Full Text CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5
by Goizet, Cyril and Boukhris, Amir and Durr, Alexandra and Beetz, Christian and Truchetto, Jeremy and Tesson, Christelle and Tsaousidou, Maria and Forlani, Sylvie and Guyant-Maréchal, Lucie and Fontaine, Bertrand and Guimarães, João and Isidor, Bertrand and Chazouillères, Olivier and Wendum, Dominique and Grid, Djamel and Chevy, Françoise and Chinnery, Patrick F and Coutinho, Paula and Azulay, Jean-Philippe and Feki, Imed and Mochel, Fanny and Wolf, Claude and Mhiri, Chokri and Crosby, Andrew and Brice, Alexis and Stevanin, Giovanni
Brain (London, England : 1878), ISSN 0006-8950, 6/2009, Volume 132, Issue 6, pp. 1589 - 1600
Hereditary spastic paraplegia | Autosomal recessive spastic paraplegia | CYP7B1 | Cholesterol metabolism | SPG5 | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Biological and medical sciences | Medical sciences | Diseases of striated muscles. Neuromuscular diseases | Spastic Paraplegia, Hereditary - genetics | Species Specificity | Humans | Middle Aged | Male | Genes, Recessive | Mutation, Missense - genetics | Genetic Variation | Young Adult | Magnetic Resonance Imaging | Point Mutation | Animals | Cytochrome P450 Family 7 | Pedigree | Base Sequence | Adolescent | Brain - pathology | Adult | Female | Heterozygote | Aged | Spastic Paraplegia, Hereditary - pathology | Steroid Hydroxylases - genetics | Codon, Nonsense - genetics | Index Medicus | Abridged Index Medicus
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5. Full Text De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux
by Fujita, Atsushi and Isidor, Bertrand and Piloquet, Hugues and Corre, Pierre and Okamoto, Nobuhiko and Nakashima, Mitsuko and Tsurusaki, Yoshinori and Saitsu, Hirotomo and Miyake, Noriko and Matsumoto, Naomichi
Journal of human genetics, ISSN 1434-5161, 09/2016, Volume 61, Issue 9, pp. 835 - 838
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Gastroesophageal Reflux - diagnosis | Humans | Genotype | Infant | Developmental Disabilities - genetics | Gastroesophageal Reflux - genetics | Transcription Factors - genetics | Homeodomain Proteins - genetics | Syndrome | Exome | Phenotype | DNA Mutational Analysis | Facies | Female | High-Throughput Nucleotide Sequencing | Mutation | Developmental Disabilities - diagnosis | Index Medicus | Life Sciences | Human health and pathology | Food and Nutrition | Hépatology and Gastroenterology
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6. Full Text Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis
by Molitor, Anne and Prud’homme, Tony and Miao, Zhichao and Conrad, Solène and Bloch-Zupan, Agnès and Pichot, Angélique and Hanauer, Antoine and Isidor, Bertrand and Bahram, Seiamak and Carapito, Raphael
Journal of human genetics, ISSN 1434-5161, 07/2019, Volume 64, Issue 7, pp. 689 - 694
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Association Studies | Cathepsin C - chemistry | Humans | Cathepsin C - genetics | Male | Mutation, Missense | Aggressive Periodontitis - genetics | Whole Exome Sequencing | Homozygote | Turkey | Aggressive Periodontitis - diagnostic imaging | Adolescent | Adult | Female | Child | Phenotypes | Transcription factors | Cysteine proteinase | Teeth | Cytotoxicity | Genomes | Inflammation | Proteins | Periodontitis | Dipeptidyl-peptidase I | Dentition | Mutation | Bioinformatics | Protein structure | Age | Genotypes | Index Medicus
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7. Full Text Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)–associated inflammatory diseases
by Holzinger, Dirk, MD and Fassl, Selina Kathleen, MSc and de Jager, Wilco, PhD and Lohse, Peter, MD and Röhrig, Ute F., PhD and Gattorno, Marco, MD and Omenetti, Alessia, MD and Chiesa, Sabrina, MD and Schena, Francesca, PhD and Austermann, Judith, PhD and Vogl, Thomas, PhD and Kuhns, Douglas B., PhD and Holland, Steven M., MD and Rodríguez-Gallego, Carlos, PhD and López-Almaraz, Ricardo, MD and Arostegui, Juan I., MD, PhD and Colino, Elena, MD and Roldan, Rosa, MD, PhD and Fessatou, Smaragdi, MD and Isidor, Bertrand, MD and Poignant, Sylvaine, MD and Ito, Koichi, MD and Epple, Hans-Joerg, MD and Bernstein, Jonathan A., MD, PhD and Jeng, Michael, MD and Frankovich, Jennifer, MD and Lionetti, Geraldina, MD and Church, Joseph A., MD and Ong, Peck Y., MD, PhD and LaPlant, Mona, MD and Abinun, Mario, MD and Skinner, Rod, MD and Bigley, Venetia, MD and Sachs, Ulrich J., MD, PhD and Hinze, Claas, MD and Hoppenreijs, Esther, MD and Ehrchen, Jan, MD, PhD and Foell, Dirk, MD and Chae, Jae Jin, PhD and Ombrello, Amanda, MD and Aksentijevich, Ivona, MD, PhD and Sunderkoetter, Cord, MD and Roth, Johannes, MD
Journal of allergy and clinical immunology, ISSN 0091-6749, 2015, Volume 136, Issue 5, pp. 1337 - 1345
Allergy and Immunology | phenotype | proline-serine-threonine phosphatase-interacting protein 1 | S100 proteins | calprotectin | myeloid-related protein 8/14 | autoinflammation | pyogenic arthritis, pyoderma gangrenosum, and acne syndrome | Hyperzincemia and hypercalprotectinemia | zinc | genotype | pyogenic arthritis | Journal Article | Research Support, N.I.H., Extramural | Research Support, N.I.H., Intramural | Research Support, Non-U.S. Gov't | pyoderma gangrenosum, and acne syndrome | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Phosphorylation | Protein Binding - genetics | Calgranulin A - metabolism | Cytoskeletal Proteins - genetics | Humans | Leukocyte L1 Antigen Complex - metabolism | Protein Multimerization | Male | Calgranulin A - genetics | Metal Metabolism, Inborn Errors - immunology | Mutation, Missense - genetics | Young Adult | Cytoskeletal Proteins - metabolism | Female | Child | Metal Metabolism, Inborn Errors - genetics | Alarmins - genetics | Cytokines - metabolism | Alarmins - metabolism | Genotype | Pyrin | Phenotype | Protein Interaction Maps - genetics | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Leukocyte L1 Antigen Complex - genetics | Adaptor Proteins, Signal Transducing - metabolism | Proline | Phosphatases | Hospitals | Analysis | Disease | Cytokines | Laboratories | Acne | Mortality | Arthritis | Inflammation | Phosphatase | Inflammatory diseases | Proteins | Genotype & phenotype | Skin | Mutation | Index Medicus | Abridged Index Medicus | myeloid-related protein 8 | pyoderma gangrenosum | and acne syndrome
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8. Full Text Two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability
by Isidor, Bertrand and David, Albert
European journal of medical genetics, ISSN 1769-7212, 2014, Volume 58, Issue 1, pp. 47 - 50
Medical Education | Short stature | Sprengel deformity | Intellectual disability | Klippel-Feil syndrome | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Paired Box Transcription Factors - genetics | Cervical Vertebrae - abnormalities | Growth Differentiation Factor 6 - genetics | Scapula - abnormalities | Seizures - genetics | Aggression | Humans | Obsessive Behavior - genetics | Neck - abnormalities | Transcription Factors - genetics | Syndrome | Intellectual Disability - genetics | Klippel-Feil Syndrome - genetics | Congenital Abnormalities - genetics | Growth Differentiation Factor 3 - genetics | Shoulder Joint - abnormalities | Adolescent | Body Height | Female | Learning Disorders - genetics | Child | Stature, Short | Analysis | Index Medicus
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9. 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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