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Arthritis & Rheumatology, ISSN 2326-5191, 2016, Volume 68, Issue 11, pp. 2795 - 2805
ObjectiveMevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study was undertaken to describe... 
MVK | HYPER-IGD | PERIODIC FEVER SYNDROME | ACIDURIA | HYPERIMMUNOGLOBULINEMIA-D | AUTOINFLAMMATORY DISEASES | MUTATIONS | SPECTRUM | RHEUMATOLOGY | Arthralgia - etiology | Uveitis - etiology | Humans | Child, Preschool | Lymphadenopathy - etiology | Male | Arthralgia - physiopathology | Arthritis - genetics | Stomatitis, Aphthous - genetics | Cerebellar Diseases - physiopathology | Amyloidosis - genetics | Skin Diseases - physiopathology | Amyloidosis - etiology | Child | Stomatitis, Aphthous - etiology | Infant, Newborn | Myalgia - physiopathology | Amyloidosis - physiopathology | Genotype | Headache - physiopathology | Vomiting - genetics | Phenotype | Diarrhea - genetics | Abdominal Pain - genetics | Adolescent | Age of Onset | Intellectual Disability - etiology | Uveitis - genetics | Vomiting - physiopathology | Conjunctivitis - etiology | Conjunctivitis - genetics | Arthritis - physiopathology | Headache - etiology | Skin Diseases - genetics | Mevalonate Kinase Deficiency - physiopathology | Myalgia - genetics | Cerebellar Diseases - etiology | Diarrhea - physiopathology | Infant | Mevalonate Kinase Deficiency - genetics | Intellectual Disability - genetics | Pharyngitis - genetics | Arthritis - etiology | Female | Registries | Retrospective Studies | Arthralgia - genetics | Pharyngitis - physiopathology | Abdominal Pain - etiology | Pharyngitis - etiology | Lymphadenopathy - genetics | Abdominal Pain - physiopathology | Myalgia - etiology | Phosphotransferases (Alcohol Group Acceptor) - genetics | Headache - genetics | Intellectual Disability - physiopathology | Skin Diseases - etiology | Cerebellar Diseases - genetics | Conjunctivitis - physiopathology | Mevalonate Kinase Deficiency - complications | Stomatitis, Aphthous - physiopathology | Vomiting - etiology | Diarrhea - etiology | Lymphadenopathy - physiopathology | Uveitis - physiopathology | Kinases | Genotype & phenotype | Index Medicus | Abridged Index Medicus
Journal Article
PLoS Genetics, ISSN 1553-7390, 2013, Volume 9, Issue 12, pp. e1003977 - e1003977
Cilia are microtubule-based cell appendages, serving motility, chemo-/mechano-/photo- sensation, and developmental signaling functions. Cilia are comprised of... 
COMPLEX | CAENORHABDITIS-ELEGANS | TRANSITION ZONE | ARL13B | SIGNALING PROTEINS | GENETICS & HEREDITY | TRAFFICKING | C-ELEGANS | CILIOGENESIS | SENSORY CILIA | INTRAFLAGELLAR TRANSPORT | Polycystic Kidney Diseases - genetics | Cytoskeletal Proteins - genetics | Humans | Biological Transport, Active - genetics | Cerebellum - abnormalities | Membranes - metabolism | Polycystic Kidney Diseases - pathology | Retinitis Pigmentosa | Cerebellar Diseases - pathology | Bardet-Biedl Syndrome - pathology | Kidney Diseases, Cystic - genetics | Bardet-Biedl Syndrome - genetics | Cytoskeletal Proteins - metabolism | ADP-Ribosylation Factors - metabolism | ADP-Ribosylation Factors - genetics | Encephalocele - genetics | Caenorhabditis elegans - metabolism | Caenorhabditis elegans - genetics | Abnormalities, Multiple | Transcription Factors - genetics | Eye Abnormalities - genetics | Cilia - metabolism | Cilia - genetics | Kidney Diseases, Cystic - pathology | Transcription Factors - metabolism | Animals | Cerebellar Diseases - genetics | Ciliary Motility Disorders - pathology | Encephalocele - pathology | Eye Abnormalities - pathology | Retina - abnormalities | Retina - pathology | Ciliary Motility Disorders - genetics | Cilia and ciliary motion | Biological transport, Active | Joubert syndrome | Physiological aspects | Genetic research | Genetic aspects | Research | Health aspects | Index Medicus | Proteins | Studies | Genotype & phenotype | Membranes | Motility | Peptides | Proteomics | Diffusion | Experiments
Journal Article
Developmental Cell, ISSN 1534-5807, 08/2015, Volume 34, Issue 3, pp. 338 - 350
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2016, Volume 53, Issue 9, pp. 608 - 615
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2011, Volume 43, Issue 8, pp. 776 - 784
Journal Article
Human Genetics, ISSN 0340-6717, 3/2014, Volume 133, Issue 3, pp. 367 - 377
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2016, Volume 99, Issue 2, pp. 414 - 422
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2011, Volume 89, Issue 6, pp. 713 - 730
Joubert syndrome related disorders (JSRDs) have broad but variable phenotypic overlap with other ciliopathies. The molecular etiology of this overlap is... 
DISEASE GENES | CAENORHABDITIS-ELEGANS | GENETICS & HEREDITY | BARDET-BIEDL-SYNDROME | PLANAR CELL POLARITY | OCULO-RENAL SYNDROME | ACTIN CYTOSKELETON | MUTATIONS | CENTROSOMAL PROTEIN | MECKEL-GRUBER-SYNDROME | BASAL BODY PROTEIN | Haplotypes | Humans | Child, Preschool | Infant | Male | Cerebellum - abnormalities | Wnt Proteins - metabolism | Zebrafish - embryology | Case-Control Studies | Gene Knockdown Techniques | Multiprotein Complexes - metabolism | Kidney Diseases, Cystic - genetics | Adult | Bardet-Biedl Syndrome - genetics | Female | Membrane Proteins - metabolism | Child | Infant, Newborn | Wnt Signaling Pathway | Cell Line | Microscopy, Electron, Transmission | Gene Expression | Genetic Association Studies | Caenorhabditis elegans - genetics | Membrane Proteins - genetics | Abnormalities, Multiple | Chromosome Mapping | Eye Abnormalities - genetics | Gene Knockout Techniques | Sequence Analysis, DNA | Cilia - metabolism | Zebrafish - genetics | Cilia - genetics | Caenorhabditis elegans - ultrastructure | Animals | Cerebellar Diseases - genetics | Retina - abnormalities | Mice | Polymorphism, Single Nucleotide | Mutation | Chromosome mapping | Usage | Gene mutations | Cilia and ciliary motion | Joubert syndrome | Physiological aspects | Causes of | Genetic aspects | Research | Nucleotide sequencing | Methods | DNA sequencing | Index Medicus | Brain | Gastrulation | Wnt protein | Congenital defects | Etiology | Mapping | Neurodevelopmental disorders | Cilia
Journal Article
NeuroMolecular Medicine, ISSN 1535-1084, 12/2014, Volume 16, Issue 4, pp. 821 - 844
An ongoing challenge in children presenting with motor delay/impairment early in life is to identify neurogenetic disorders with a clinical phenotype, which... 
Neurology | Cerebral palsy | Neurosciences | Biomedicine | Masqueraders | Internal Medicine | Spastic, dyskinetic, and ataxic phenotypes | Neurogenetic | RISK-FACTORS | PRETERM INFANTS | NEUROSCIENCES | COENZYME-Q10 DEFICIENCY | CEREBELLAR-ATAXIA | INTRAVENTRICULAR HEMORRHAGE | ACIDURIA TYPE-I | GLUTARIC ACIDURIA | GLOBUS-PALLIDUS INTERNUS | PELIZAEUS-MERZBACHER DISEASE | DEEP BRAIN-STIMULATION | Brain - embryology | Leukoencephalopathies - genetics | Genomics | Humans | Movement Disorders - diagnosis | Child, Preschool | Male | Nervous System Diseases - diagnosis | Stroke - congenital | Exome | Asphyxia Neonatorum - genetics | Brain Diseases, Metabolic - diagnosis | Cerebral Palsy - diagnosis | Leukoencephalopathies - diagnosis | Chromosome Disorders - diagnosis | Child | Hypoxia, Brain - diagnosis | Infant, Newborn | Brain Diseases, Metabolic - genetics | Neurotransmitter Agents - metabolism | Lysosomal Storage Diseases, Nervous System - genetics | Movement Disorders - genetics | Muscle Spasticity - genetics | Cerebral Palsy - genetics | Hypoxia, Brain - genetics | Cell Movement | Tissue Array Analysis | Stroke - diagnosis | Genetic Diseases, Inborn - genetics | Developmental Disabilities - genetics | Nervous System Diseases - genetics | Molecular Diagnostic Techniques | Diagnostic Errors | Asphyxia Neonatorum - diagnosis | Adult | Female | Birth Injuries - genetics | Developmental Disabilities - diagnosis | Genetic Diseases, Inborn - diagnosis | Globus Pallidus - pathology | Lysosomal Storage Diseases, Nervous System - diagnosis | Mitochondrial Diseases - genetics | Diagnosis, Differential | Genome-Wide Association Study | Leukoencephalopathies - metabolism | Birth Injuries - diagnosis | Muscle Spasticity - diagnosis | Chromosome Disorders - genetics | Mitochondrial Diseases - diagnosis | Medical colleges | Molecular genetics | Children's hospitals | Development and progression | Diagnostic imaging | Diagnosis | Index Medicus | masqueraders | dyskinetic and ataxic phenotypes | neurogenetic | spastic
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 04/2013, Volume 22, Issue 7, pp. 1358 - 1372
The ciliopathies are a group of heterogeneous diseases with considerable variations in phenotype for allelic conditions such as Meckel-Gruber syndrome (MKS)... 
Polycystic Kidney Diseases - genetics | Humans | Hedgehog Proteins - metabolism | Mice, 129 Strain | Cerebellum - abnormalities | Encephalocele - metabolism | Polycystic Kidney Diseases - pathology | Retinitis Pigmentosa | Dishevelled Proteins | Eye Abnormalities - metabolism | Wnt Signaling Pathway | Disease Models, Animal | Polycystic Kidney Diseases - metabolism | Cerebellar Diseases - metabolism | Membrane Proteins - genetics | Abnormalities, Multiple | Mice, Knockout | Kidney Diseases, Cystic - metabolism | Luciferases, Firefly - biosynthesis | Phenotype | Ciliary Motility Disorders - pathology | Eye Abnormalities - pathology | Mice | Retina - pathology | Retina - metabolism | Neural Tube Defects - genetics | Neural Tube Defects - pathology | Neural Tube Defects - metabolism | Phosphoproteins - metabolism | Membrane Proteins - deficiency | Cerebellar Diseases - pathology | HEK293 Cells | Kidney Diseases, Cystic - genetics | Genes, Reporter | Encephalocele - genetics | Cilia - pathology | Mice, Inbred C57BL | Gene Expression Regulation | Eye Abnormalities - genetics | Kidney Diseases, Cystic - pathology | Protein Transport | Animals | Cerebellar Diseases - genetics | Encephalocele - pathology | Retina - abnormalities | Luciferases, Firefly - genetics | Ciliary Motility Disorders - metabolism | Adaptor Proteins, Signal Transducing - metabolism | Body Patterning - genetics | Ciliary Motility Disorders - genetics | Index Medicus
Journal Article