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1. Full Text Refining the phenotype associated with MEF2C point mutations
by Bienvenu, Thierry and Diebold, Bertrand and Chelly, Jamel and Isidor, Bertrand
neurogenetics, ISSN 1364-6745, 2/2013, Volume 14, Issue 1, pp. 71 - 75
Up to now, only five-point mutations in the MEF2C gene have been described in patients with severe mental retardation with absent speech, limited walking... 
Human Genetics | Neurosciences | MEF2C | Biomedicine | Intellectual disability | Hand stereotypies | Molecular Medicine | Mental retardation | MICRODELETION | SEVERE MENTAL-RETARDATION | GENETICS & HEREDITY | TRANSCRIPTION FACTOR MEF2C | CLINICAL NEUROLOGY | REGION | 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
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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
Purpose: Lanosterol synthase (LSS) gene was initially described in families with extensive congenital cataracts. Recently, a study has highlighted LSS... 
cholesterol pathway | early-onset epileptic encephalopathy | alopecia | LSS | intellectual disability | CYCLASE | MAPS | MENTAL-RETARDATION SYNDROME | GENETICS & HEREDITY | MUTATIONS | LOCUS | DESMOSTEROLOSIS
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3. 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, ISSN 0006-8950, 6/2009, Volume 132, Issue 6, pp. 1589 - 1600
Thirty-four different loci for hereditary spastic paraplegias have been mapped, and 16 responsible genes have been identified. Autosomal recessive forms of... 
Hereditary spastic paraplegia | Autosomal recessive spastic paraplegia | CYP7B1 | Cholesterol metabolism | SPG5 | FREQUENT | C DISEASE | cholesterol metabolism | CEREBROTENDINOUS XANTHOMATOSIS | DEHYDROEPIANDROSTERONE | IDENTIFICATION | LOCUS | NEUROSCIENCES | CLINICAL NEUROLOGY | HETEROGENEITY | hereditary spastic paraplegia | autosomal recessive spastic paraplegia | MOTOR-NEURON DEGENERATION | GENE CYP7B1 | THIN CORPUS-CALLOSUM | 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
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4. 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
The type I interferon system is integral to human antiviral immunity. However, inappropriate stimulation or defective negative regulation of this system can... 
AICARDI-GOUTIERES-SYNDROME | DYSCHROMATOSIS SYMMETRICA HEREDITARIA | LUPUS | AUTOIMMUNITY | TREX1 | GENETICS & HEREDITY | DISORDERS | MICE | MDA5 FILAMENTS | DSRNA RECOGNITION | EXPRESSION SIGNATURE | 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
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5. 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
MEIS2 aberrations are considered to be the cause of intellectual disability, cleft palate and cardiac septal defect, as MEIS2 copy number variation is often... 
CLEFT-PALATE | CHARGE SYNDROME | DEFECT | GENETICS & HEREDITY | DISABILITY | 15Q14 | NEURAL CREST | MEIS2 | CARDIAC DEVELOPMENT | DELETION | CHILDREN | 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
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6. 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, The, ISSN 0091-6749, 2015, Volume 136, Issue 5, pp. 1337 - 1345
Background Hyperzincemia and hypercalprotectinemia (Hz/Hc) is a distinct autoinflammatory entity involving extremely high serum concentrations of the... 
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 | JUVENILE IDIOPATHIC ARTHRITIS | IMMUNOLOGY | PAPA SYNDROME | RECEPTOR 4 | ZINC-METABOLISM | IN-VITRO | INTERFERON-GAMMA | ALLERGY | pyoderma gangrenosum, and acne syndrome | PYODERMA-GANGRENOSUM | GENE-EXPRESSION | T-CELLS | 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 | myeloid-related protein 8 | pyoderma gangrenosum | and acne syndrome
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7. 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
Background Intellectual disability (ID) is characterised by an extreme genetic heterogeneity. Several hundred genes have been associated to monogenic forms of... 
INDIVIDUALS | LINKED MENTAL-RETARDATION | DE-NOVO MUTATIONS | RETT-SYNDROME | NEUROLIGIN GENES | FRAGILE-X | GENETICS & HEREDITY | DUCHENNE MUSCULAR-DYSTROPHY | DEVELOPMENTAL DELAY | AUTISM SPECTRUM DISORDERS | DELETION | 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 | mutation | causative | 1506 | intellectual disability | high-throughput sequencing | autism | Cognitive and Behavioural Genetics
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8. Full Text Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
by Jacquemont, S and Reymond, A and Zufferey, F and Harewood, L and Walters, R.G and Kutalik, Z and Martinet, D and Shen, Y and Valsesia, A and Beckmann, N.D and Thorleifsson, G and Belfiore, M and Bouquillon, S and Campion, D and Leeuw, N. de and Vries, L.B.A. de and Esko, T and Fernandez, B.A and Fernandez-Aranda, F and Fernandez-Real, J.M and Gratacos, M and Guilmatre, A and Hoyer, J and Jarvelin, M.R and Kooy, R.F and Kurg, A and Caignec, C. Le and Mannik, K and Platt, O.S and Sanlaville, D and Haelst, M.M. van and Villatoro Gomez, S and Walha, F and Wu, B.L and Yu, Y and Aboura, A and Addor, M.C and Alembik, Y and Antonarakis, S.E and Arveiler, B and Barth, M and Bednarek, N and Bena, F and Bergmann, S and Beri, M and Bernardini, L and Blaumeiser, B and Bonneau, D and Bottani, A and Boute, O and Brunner, H.G and Cailley, D and Callier, P and Chiesa, J and Chrast, J and Coin, L and Coutton, C and Cuisset, J.M and Cuvellier, J.C and David, A and Freminville, B. de and Delobel, B and Delrue, M.A and Demeer, B and Descamps, D and Didelot, G and Dieterich, K and Disciglio, V and Doco-Fenzy, M and nat, S and Duban-Bedu, B and Dubourg, C and El-Sayed Moustafa, J.S and Elliott, P and Faas, B.H.W and Faivre, L and Faudet, A and Fellmann, F and Ferrarini, A and Fisher, R and Flori, E and Forer, L and Gaillard, D and Gerard, M and Gieger, C and Gimelli, S and Gimelli, G and Grabe, H.J and Guichet, A and Guillin, O and Hartikainen, A.L and Heron, D and Hippolyte, L and Holder, M and Homuth, G and Isidor, B and Jaillard, S and Jaros, Z and Jimenez-Murcia, S and Helas, G.J and ...
Nature, ISSN 0028-0836, 2011, Volume 478, Issue 7367, pp. 97 - 102
Both obesity and being underweight have been associated with increased mortality. Underweight, defined as a body mass index (BMI) DEPENDENT PROBE AMPLIFICATION | FAILURE-TO-THRIVE | METABOLIC SYNDROME | RELATIVE QUANTIFICATION | SNP GENOTYPING DATA | HIDDEN-MARKOV MODEL | MULTIDISCIPLINARY SCIENCES | BODY-MASS INDEX | TIME QUANTITATIVE PCR | COPY NUMBER VARIATION | CIRCULAR BINARY SEGMENTATION | Humans | Middle Aged | Child, Preschool | RNA, Messenger - analysis | Head - anatomy & histology | Infant | Male | Developmental Disabilities - genetics | Gene Expression Profiling | North America | Obesity - genetics | Case-Control Studies | Young Adult | Mental Disorders - genetics | Aging | Gene Duplication - genetics | Adult | Female | Transcription, Genetic | Energy Metabolism - genetics | Child | Infant, Newborn | Chromosomes, Human, Pair 16 - genetics | Body Mass Index | Gene Dosage - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Europe | RNA, Messenger - genetics | Mutation - genetics | Body Height - genetics | Thinness - genetics | Phenotype | Comparative Genomic Hybridization | Adolescent | Heterozygote | Aged | Cohort Studies | Sequence Deletion - genetics | Obesity | Chromosome mapping | Usage | Genetic variation | Genetic aspects | Cognition disorders | Research | Risk factors | Schizophrenia | Gender | Behavior | Gene expression | Bias | Life Sciences | Human health and pathology | Genetics | Endocrinology and metabolism | Gene Duplication | Developmental Disabilities | Sequence Deletion | Thinness | genetics | Genetic Predisposition to Disease | Head | Gene Dosage | analysis | Energy Metabolism | Mental Disorders | Chromosomes, Human, Pair 16 | Body Height | Mutation | anatomy & histology | RNA, Messenger
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9. Full Text Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis
by Isidor, Bertrand and Lindenbaum, Pierre and Pichon, Olivier and Bézieau, Stéphane and Dina, Christian and Jacquemont, Sébastien and Martin-Coignard, Dominique and Thauvin-Robinet, Christel and Le Merrer, Martine and Mandel, Jean-Louis and David, Albert and Faivre, Laurence and Cormier-Daire, Valérie and Redon, Richard and Le Caignec, Cédric
Nature Genetics, ISSN 1061-4036, 02/2011, Volume 43, Issue 4, pp. 306 - 308
Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder with facial anomalies, osteoporosis and acro-osteolysis. We sequenced the exomes of six... 
OSTEOBLAST DIFFERENTIATION | ALAGILLE-SYNDROME | SIGNALING PATHWAY | GENETICS & HEREDITY | Rare Diseases - genetics | Frameshift Mutation | Exons | Humans | Middle Aged | Child, Preschool | Molecular Sequence Data | Male | Receptor, Notch2 - genetics | Hajdu-Cheney Syndrome - metabolism | Young Adult | Base Sequence | Adult | Female | Rare Diseases - pathology | Rare Diseases - metabolism | Amino Acid Sequence | Signal Transduction | Receptor, Notch2 - metabolism | Codon, Nonsense | DNA - genetics | Hajdu-Cheney Syndrome - genetics | Hajdu-Cheney Syndrome - pathology | Pedigree | Adolescent | Heterozygote | Mutation | Somatotropin | Osteoporosis | Care and treatment | Physiological aspects | Congenital heart disease | Genetic aspects | Research | Risk factors | Proteins | Genetics | Bone density
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