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1. Full Text Associated anomalies in cases with esophageal atresia
by Stoll, Claude and Alembik, Yves and Dott, Beatrice and Roth, Marie‐Paule
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2017, Volume 173, Issue 8, pp. 2139 - 2157
Esophageal atresia (EA) is a common type of congenital anomaly. The etiology of esophageal atresia is unclear and its pathogenesis is controversial. Infants... 
tracheooesophageal fistula | congenital anomalies | congenital malformations | esophageal atresia | VACTERL association | AND/OR TRACHEOESOPHAGEAL FISTULA | DESCRIPTIVE EPIDEMIOLOGY | PREVALENCE | CONGENITAL-ANOMALIES | ENVIRONMENTAL-FACTORS | MALFORMATIONS | BIRTH-DEFECTS PREVENTION | GENETICS & HEREDITY | EXPERIENCE | PRENATAL-DIAGNOSIS | Chromosome Disorders - epidemiology | Limb Deformities, Congenital - genetics | Congenital Abnormalities - epidemiology | Esophageal Atresia - epidemiology | Humans | Congenital Abnormalities - physiopathology | Stillbirth | Limb Deformities, Congenital - physiopathology | Male | Spine - abnormalities | Esophagus - physiopathology | Heart Defects, Congenital - genetics | Congenital Abnormalities - genetics | Anal Canal - physiopathology | Abnormalities, Multiple - epidemiology | Female | Esophageal Atresia - genetics | Trachea - physiopathology | Esophageal Atresia - complications | Chromosome Disorders - physiopathology | Abnormalities, Multiple - genetics | Kidney - physiopathology | Trachea - abnormalities | Esophageal Atresia - physiopathology | Chromosome Disorders - complications | Spine - physiopathology | Fetus - physiopathology | Esophagus - abnormalities | Abnormalities, Multiple - physiopathology | Anal Canal - abnormalities | Pregnancy | Heart Defects, Congenital - complications | Kidney - abnormalities | Limb Deformities, Congenital - epidemiology | Chromosome Aberrations | Heart Defects, Congenital - epidemiology | Limb Deformities, Congenital - complications | Heart Defects, Congenital - physiopathology | Chromosome Disorders - genetics | Development and progression | Birth defects | Genetic disorders | Etiology | Congenital defects | Hernias | Fetuses | CHARGE syndrome | Infants | Sudden infant death syndrome--SIDS | Esophagus
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2. Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails
by Kariminejad, Ariana and Ajeawung, Norbert Fonya and Bozorgmehr, Bita and DIonne-Laporte, Alexandre and Molidperee, Sirinart and Najafi, Kimia and Gibbs, Richard A and Lee, Brendan H and Hennekam, Raoul C and Campeau, Philippe M
Journal of Human Genetics, ISSN 1434-5161, 04/2017, Volume 62, Issue 4, pp. 465 - 471
Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial... 
BLEPHAROPHIMOSIS | LIGASE UBE3B | MUTATIONS | GENE | OCULOCEREBROFACIAL SYNDROME | GENETICS & HEREDITY | Eczema - diagnosis | Limb Deformities, Congenital - genetics | Eczema - genetics | Microcephaly - genetics | Face - abnormalities | Humans | Child, Preschool | Limb Deformities, Congenital - physiopathology | Male | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Micrognathism - diagnosis | Facies | Adult | Female | Microcephaly - physiopathology | Child | Neck - physiopathology | Abnormalities, Multiple - genetics | Eczema - physiopathology | Micrognathism - physiopathology | Diagnosis, Differential | Eye Abnormalities - diagnosis | Micrognathism - genetics | Growth Disorders - diagnosis | Microcephaly - diagnosis | Neck - abnormalities | Eye Abnormalities - genetics | Sequence Analysis, DNA | Abnormalities, Multiple - physiopathology | Face - physiopathology | Intellectual Disability - physiopathology | Carrier Proteins - genetics | Limb Deformities, Congenital - diagnosis | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Eye Abnormalities - physiopathology | Mutation | Growth Disorders - genetics | Ubiquitin-Protein Ligases - genetics | Pathology, Molecular | Karyotype | Growth Disorders - physiopathology
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3. Full Text Hand Function and Appearance following Reconstruction for Congenital Hand Differences: A Qualitative Analysis of Children and Parents
by Kelley, Brian P and Franzblau, Lauren E and Chung, Kevin C and Carlozzi, Noelle and Waljee, Jennifer F
Plastic and Reconstructive Surgery, ISSN 0032-1052, 07/2016, Volume 138, Issue 1, pp. 73e - 81e
BACKGROUND:Congenital hand differences induce social, psychological, and functional challenges for children. However, little is known about how children... 
SURGERY | DECISION-MAKING | ANOMALIES | ACQUIRED LIMB DEFICIENCIES | USERS GUIDES | MEDICAL LITERATURE | XXIII | DEFORMITIES | HEALTH-CARE | EPIDEMIOLOGY | OF-LIFE | Adaptation, Psychological - physiology | Hand - physiopathology | Hand Deformities, Congenital - surgery | Parents - psychology | Hand Deformities, Congenital - physiopathology | Humans | Quality Indicators, Health Care | Reconstructive Surgical Procedures - methods | Adult | Microsurgery - methods | Child | Hand Deformities, Congenital - psychology
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4. Full Text Representation of Multiple Body Parts in the Missing-Hand Territory of Congenital One-Handers
by Hahamy, Avital and Macdonald, Scott N and van den Heiligenberg, Fiona and Kieliba, Paullina and Emir, Uzay and Malach, Rafael and Johansen-Berg, Heidi and Brugger, Peter and Culham, Jody C and Makin, Tamar R
Current Biology, ISSN 0960-9822, 05/2017, Volume 27, Issue 9, pp. 1350 - 1355
Individuals born without one hand (congenital one-handers) provide a unique model for understanding the relationship between focal reorganization in... 
sensorimotor | one-handers | phantom pain | plasticity | amelia | neuroimaging | ORGANIZATION | PHANTOM-LIMB PAIN | AMPUTEES | CORTEX | BIOCHEMISTRY & MOLECULAR BIOLOGY | PATTERNS | CORTICAL REORGANIZATION | ARM AMPUTATION | MAP | BRAIN | PLASTICITY | CELL BIOLOGY | Hand Deformities, Congenital - physiopathology | Neuronal Plasticity | gamma-Aminobutyric Acid - metabolism | Humans | Brain Mapping - methods | Brain - physiology | Hand - physiology | Task Performance and Analysis | Case-Control Studies | GABA | Neurosciences | Genetic disorders | Missing persons | Analysis | Report
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5. Full Text Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome
by Bernier, Francois P and Caluseriu, Oana and Ng, Sarah and Schwartzentruber, Jeremy and Buckingham, Kati J and Innes, A. Micheil and Jabs, Ethylin Wang and Innis, Jeffrey W and Schuette, Jane L and Gorski, Jerome L and Byers, Peter H and Andelfinger, Gregor and Siu, Victoria and Lauzon, Julie and Fernandez, Bridget A and McMillin, Margaret and Scott, Richard H and Racher, Hilary and Majewski, Jacek and Nickerson, Deborah A and Shendure, Jay and Bamshad, Michael J and Parboosingh, Jillian S and FORGE Canada Consortium
The American Journal of Human Genetics, ISSN 0002-9297, 05/2012, Volume 90, Issue 5, pp. 925 - 933
Nager syndrome, first described more than 60 years ago, is the archetype of a class of disorders called the acrofacial dysostoses, which are characterized by... 
ACROFACIAL DYSOSTOSIS SYNDROME | GENE | BMPR-IA | GENETICS & HEREDITY | MUTATIONS | SEQUENCING DATA | INHERITANCE | SPLICING FACTOR | DOMINANT RETINITIS-PIGMENTOSA | Limb Deformities, Congenital - genetics | RNA-Binding Proteins - genetics | Reproducibility of Results | Spliceosomes - genetics | Humans | Mandibulofacial Dysostosis - physiopathology | RNA Splicing Factors | Child, Preschool | Limb Deformities, Congenital - physiopathology | Male | RNA Precursors - genetics | Haploinsufficiency | Exome | Young Adult | Mandibulofacial Dysostosis - genetics | Adult | Female | RNA Precursors - metabolism | Mutation | Child | RNA-Binding Proteins - metabolism | Cohort Studies | Gene mutations | Causes of | Genetic aspects | Craniofacial abnormalities | Research | Nucleotide sequencing | DNA sequencing | Genomics | Messenger RNA | Medical genetics | Dysostosis | genomics | haploinsufficiency | Spliceosomes | Limb malformations | Report
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6. Full Text DDX3X mutations in two girls with a phenotype overlapping Toriello–Carey syndrome
by Dikow, Nicola and Granzow, Martin and Graul‐Neumann, Luitgard M and Karch, Stephanie and Hinderhofer, Katrin and Paramasivam, Nagarajan and Behl, Laura‐Jane and Kaufmann, Lilian and Fischer, Christine and Evers, Christina and Schlesner, Matthias and Eils, Roland and Borck, Guntram and Zweier, Christiane and Bartram, Claus R and Carey, John C and Moog, Ute
American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2017, Volume 173, Issue 5, pp. 1369 - 1373
Recently, de novo heterozygous variants in DDX3X have been reported in about 1.5% of 2659 females with previously unexplained intellectual disability (ID). We... 
exome sequencing | DDX3X | intellectual disability | Toriello–Carey syndrome | LINKED INTELLECTUAL DISABILITY | Toriello-Carey syndrome | ANOMALIES | GENETICS & HEREDITY | Agenesis of Corpus Callosum - diagnosis | Limb Deformities, Congenital - genetics | Pierre Robin Syndrome - physiopathology | Humans | Child, Preschool | Limb Deformities, Congenital - physiopathology | Craniofacial Abnormalities - physiopathology | Intellectual Disability - genetics | Heart Defects, Congenital - genetics | Genes, X-Linked | Agenesis of Corpus Callosum - genetics | Female | Urogenital Abnormalities - physiopathology | Child | Craniofacial Abnormalities - genetics | Urogenital Abnormalities - diagnosis | Agenesis of Corpus Callosum - physiopathology | Pierre Robin Syndrome - diagnosis | Intellectual Disability - physiopathology | DEAD-box RNA Helicases - genetics | Limb Deformities, Congenital - diagnosis | Exome - genetics | Phenotype | Pierre Robin Syndrome - genetics | Craniofacial Abnormalities - diagnosis | Intellectual Disability - diagnosis | Heart Defects, Congenital - diagnosis | Heterozygote | Heart Defects, Congenital - physiopathology | Mutation | Urogenital Abnormalities - genetics | Genotype & phenotype
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7. Full Text Morphological and neurophysiological impairment of the nerve in type II macrodactyly
by Yang, Xi and Jiang, Yongkang and Zhou, Shengbo and Guo, Ruiji and Han, Gang and Wang, Bin
PLoS ONE, ISSN 1932-6203, 07/2018, Volume 13, Issue 7, p. e0200183
Background Macrodactyly is a congenital malformation characterized by aggressive overgrowth of multiple tissues, including subcutaneous fat, nerves, and bones... 
PIK3CA | ANASTOMOSES | HAMARTOMA | MULTIDISCIPLINARY SCIENCES | NEURAL FIBROLIPOMA | ULNAR | MUTATIONS | HAND | Hand Deformities, Congenital - surgery | Polydactyly - physiopathology | Humans | Ulnar Nerve - physiopathology | Median Nerve - pathology | Peripheral Nerves - pathology | Case-Control Studies | Peripheral Nerves - physiopathology | Action Potentials | Ulnar Nerve - pathology | Hand Deformities, Congenital - physiopathology | Median Nerve - physiopathology | Electromyography | Hand Deformities, Congenital - pathology | Polydactyly - pathology | Care and treatment | Usage | Nervous system diseases | Fluorescent antibody technique | Research | Immunofluorescence | Mental illness | Nuclear magnetic resonance--NMR | Congenital defects | Peripheral nerves | Digits | Impairment | Action potential | Nervous system | Tissues | Fibers | Lamellar structure | Sheaths | Ultrastructure | Surgery | Polydactyly | Nerves | Median nerve | Fingers & toes | Bones | Expansion | Myelin | Plastic surgery | Patients | Medicine | Hospitals | Microscopy | Morphology | Reinnervation | Nuclear magnetic resonance | NMR
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8. Full Text VACTERL phenotype with mosaic trisomy 5 and uniparental disomy 5
by Hwang, Samuel and Rudd, Mary Katharine and Finch, Lisa and Peterson, Suzanne E and Kapur, Raj P
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2018, Volume 176, Issue 2, pp. 502 - 504
GENETICS & HEREDITY | Limb Deformities, Congenital - genetics | Trisomy - physiopathology | Humans | Limb Deformities, Congenital - physiopathology | Uniparental Disomy - physiopathology | Cri-du-Chat Syndrome - genetics | Spine - abnormalities | Esophagus - physiopathology | Heart Defects, Congenital - genetics | Cri-du-Chat Syndrome - physiopathology | Anal Canal - physiopathology | Female | Trachea - physiopathology | Kidney - physiopathology | Chromosomes, Human, Pair 5 - genetics | Trachea - abnormalities | Spine - physiopathology | Esophagus - abnormalities | Anal Canal - abnormalities | Pregnancy | Phenotype | Trisomy - genetics | Uniparental Disomy - genetics | Aborted Fetus - diagnostic imaging | Kidney - abnormalities | Aborted Fetus - physiopathology | Mosaicism | Heart Defects, Congenital - physiopathology | Trisomy | Uniparental disomy
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9. Full Text Assessment of overall thoracic limb axial alignment in dogs with antebrachial deformity
by Cooley, Katheryn and Kroner, Kevin and Muir, Peter and Hetzel, Scott J and Bleedorn, Jason A
Veterinary Surgery, ISSN 0161-3499, 11/2018, Volume 47, Issue 8, pp. 1074 - 1079
Objective: To assess overall thoracic limb axial alignment in dogs with and without angular limb deformity (ALD). Study design: Ex vivo and retrospective... 
ROTATION | HUMERUS | ANGULATION | GROWTH | TORSION | VETERINARY SCIENCES | CANINE RADIUS | ULNA | FRONTAL PLANE | Tomography, X-Ray Computed - veterinary | Limb Deformities, Congenital - physiopathology | Case-Control Studies | Elbow Joint - abnormalities | Animals | Dog Diseases - physiopathology | Elbow Joint - physiopathology | Dogs | Limb Deformities, Congenital - diagnostic imaging | Range of Motion, Articular | Limb Deformities, Congenital - veterinary | Retrospective Studies | Elbow Joint - diagnostic imaging | Dog Diseases - diagnostic imaging | Analysis | Reconstruction | Limbs | Radius | Deformation | Thorax | Rotation | Alignment | Computed tomography | Elbow (anatomy) | Bones | Metacarpal | Humerus | Torsion | Elbow
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10. Full Text Mutations in the fourth β‐propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers
by Sukenik Halevy, Rivka and Chien, Huan‐Chieh and Heinz, Bo and Bamshad, Michael J and Nickerson, Deborah A and Kircher, Martin and Ahituv, Nadav and Univ Washington Ctr Mendelian Geno and University of Washington Center for Mendelian Genomics
Human Mutation, ISSN 1059-7794, 06/2018, Volume 39, Issue 6, pp. 811 - 815
Isolated hand syndactyly is a common limb malformation with limited known genetic etiology. We used exome sequencing to discover two novel variants, chr11... 
LRP4 | Wnt signaling | limb malformations | syndactyly | SCLEROSTIN | VARIANTS | FACIAL DYSMORPHISM | CENANI-LENZ-SYNDROME | CLASSIFICATION | LIMB DEVELOPMENT | DISEASE | GENETICS & HEREDITY | BONE | Homozygote | Limb Deformities, Congenital - genetics | Phenotype | Pedigree | Humans | Limb Deformities, Congenital - physiopathology | Mutation | Syndactyly - physiopathology | LDL-Receptor Related Proteins - genetics | Mutation, Missense - genetics | Syndactyly - genetics | Whole Exome Sequencing | Bone growth | Phenotypes | Wnt protein | Etiology | Syndactyly | LRP5 protein | SOST protein | Osteogenesis
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11. Full Text Genetic analysis of the roles of BMP2, BMP4, and BMP7 in limb patterning and skeletogenesis
by Bandyopadhyay, Amitabha and Tsuji, Kunikazu and Cox, Karen and Harfe, Brian D and Rosen, Vicki and Tabin, Clifford J
PLoS Genetics, ISSN 1553-7390, 12/2006, Volume 2, Issue 12, pp. 2116 - 2130
Bone morphogenetic protein (BMP) family members, including BMP2, BMP4, and BMP7, are expressed throughout limb development. BMPs have been implicated in early... 
OSTEOBLAST DIFFERENTIATION | INTERDIGITAL APOPTOSIS | APICAL ECTODERMAL RIDGE | IN-VIVO | GENETICS & HEREDITY | BONE MORPHOGENETIC PROTEINS | DEVELOPING CHICK LIMB | SKELETAL DEVELOPMENT | SONIC-HEDGEHOG | VERTEBRATE LIMB | FEEDBACK LOOP | Limb Deformities, Congenital - genetics | Bone Morphogenetic Proteins - physiology | Chondrogenesis - genetics | Limb Deformities, Congenital - physiopathology | Male | Transforming Growth Factor beta - deficiency | Extremities - embryology | Bone Morphogenetic Proteins - deficiency | Female | Bone Morphogenetic Proteins - genetics | Osteogenesis - genetics | Bone Morphogenetic Protein 4 | Bone Morphogenetic Protein 2 | Transforming Growth Factor beta - physiology | Mice, Transgenic | Signal Transduction - genetics | Down-Regulation - genetics | Homeodomain Proteins - genetics | Body Patterning - physiology | Mice, Knockout | Animals | Transforming Growth Factor beta - genetics | Mice | Extremities - growth & development | Body Patterning - genetics | Bone Morphogenetic Protein 7 | Comparative analysis | Bone morphogenetic proteins | Genetic aspects | Vertebrates | BMP | Genetics and Genomics | Mus (Mouse) | Developmental Biology | Mammals | Proteins | Medical research | Experiments | Embryos
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12. Full Text Congenital limb deficiencies with vascular etiology: Possible association with maternal thrombophilia
by Ordal, Leslie and Keunen, Johannes and Martin, Nicole and Shehata, Nadine and Borschel, Gregory H and Clarke, Howard M and Toi, Ants and Shuman, Cheryl and Chitayat, David
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2016, Volume 170, Issue 12, pp. 3083 - 3089
Congenital limb deficiency defects (LDDs) are etiologically heterogeneous. Acquired causes include amniotic bands, teratogens exposure, and chorionic villus... 
terminal transverse limb defects | thrombophilia | factor V Leiden | limb deformities | limb deficiency defect | hematologic | pregnancy complications | congenital | prenatal diagnosis | DEFECTS | SERIES | ANOMALIES | MALFORMATIONS | GENETICS & HEREDITY | COAGULATION | Thrombophilia - physiopathology | Humans | Limb Deformities, Congenital - physiopathology | Male | Blood Vessels - diagnostic imaging | Chorionic Villi Sampling - methods | Thrombophilia - epidemiology | Gestational Age | Thrombophilia - etiology | Blood Vessels - physiopathology | Pregnancy | Canada | Thrombophilia - diagnostic imaging | Extremities - blood supply | Mass Screening | Amniotic Band Syndrome - physiopathology | Limb Deformities, Congenital - etiology | Limb Deformities, Congenital - diagnostic imaging | Adult | Female | Extremities - physiopathology | Development and progression | Genetic disorders | Causes and theories of causation | Diseases | Defects | Index Medicus
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13. Full Text The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK
by Cheon, Solmi and Kaur, Kiran and Nijem, Nadine and Tuncay, Islam Oguz and Kumar, Pooja and Dean, Milan and Juusola, Jane and Guillen-Sacoto, Maria J and Bedoukian, Emma and Ierardi-Curto, Lynne and Kaplan, Paige and Bradley Schaefer, G and Mishra, Prashant and Chahrour, Maria H
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 02/2019, Volume 116, Issue 9, pp. 3662 - 3667
Kaufman oculocerebrofacial syndrome (KOS) is a recessive neurodevelopmental disorder characterized by intellectual disability and lack of speech. KOS is caused... 
BCKDK | Ubiquitination | Intellectual disability | UBE3B | Autism spectrum disorder | AUTISM | DE-NOVO MUTATIONS | ubiquitination | MULTIDISCIPLINARY SCIENCES | KAUFMAN OCULOCEREBROFACIAL SYNDROME | SPECTRUM | autism spectrum disorder | intellectual disability | CHILDREN | Limb Deformities, Congenital - genetics | Protein Kinases - genetics | Microcephaly - genetics | Humans | Limb Deformities, Congenital - physiopathology | Male | Intellectual Disability - genetics | Facies | Adult | Microcephaly - physiopathology | Language Development Disorders - physiopathology | Child | Language Development Disorders - genetics | Brain - physiopathology | Ubiquitin - genetics | Eye Abnormalities - genetics | Mice, Knockout | Intellectual Disability - physiopathology | Phenotype | Animals | Metabolic Networks and Pathways | Adolescent | Eye Abnormalities - physiopathology | Mice | Mutation | Ubiquitin-Protein Ligases - genetics | Tricarboxylic acid cycle | Growth rate | Intellectual disabilities | Liver | Chain branching | Cortex (somatosensory) | Neurodevelopmental disorders | Mitochondria | Pathways | Metabolites | Grip strength | Ubiquitin-protein ligase | Hypoplasia | Muscles | Metabolism | Patients | Substrates | Corpus callosum | Skeletal muscle | Hereditary diseases | Morphology | Speech | Metabolic pathways | Electron transport | Synapses | Biological Sciences
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