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Neurology, ISSN 0028-3878, 10/2016, Volume 87, Issue 17, pp. 1836 - 1842
Journal Article
Journal of Cellular and Molecular Medicine, ISSN 1582-1838, 10/2017, Volume 21, Issue 10, pp. 2329 - 2343
Primary ubiquinone (co‐enzyme Q) deficiency results in a wide range of clinical features due to mitochondrial dysfunction. Here, we analyse and characterize... 
ubiquinone | primary ubiquinone deficiency | mitochondrial dysfunction | 2,4‐dihydroxybenzoic acid | COQ7 | coenzyme Q | 2,4-dihydroxybenzoic acid | MEDICINE, RESEARCH & EXPERIMENTAL | SENSORINEURAL HEARING-LOSS | COQ DEFICIENCY | CLINICAL-FEATURES | COENZYME Q DEFICIENCY | RIBOSOMAL-RNA MUTATION | CELL BIOLOGY | 2, 4-dihydroxybenzoic acid | MITOCHONDRIAL RESPIRATION | CAENORHABDITIS-ELEGANS | CEREBELLAR-ATAXIA | NON-SYNDROMIC DEAFNESS | UBIQUINONE BIOSYNTHESIS | Spastic Paraplegia, Hereditary - genetics | Spastic Paraplegia, Hereditary - diagnosis | Humans | Ubiquinone - metabolism | Mixed Function Oxygenases - metabolism | Mitochondrial Proteins - genetics | Spastic Paraplegia, Hereditary - metabolism | Hydroxybenzoates - pharmacology | DNA, Mitochondrial - genetics | DNA Mutational Analysis | Mitochondrial Proteins - metabolism | Base Sequence | Female | Membrane Proteins - metabolism | Child | DNA, Mitochondrial - chemistry | Fibroblasts - metabolism | Cell Line | Membrane Proteins - genetics | Mice, Knockout | Animals | Fibroblasts - drug effects | Consanguinity | Fibroblasts - cytology | Mutation | Mixed Function Oxygenases - genetics | Enzymes | Gene mutations | Analysis | Genes | Physiological aspects | Genetic aspects | Mitochondrial DNA | Genetic polymorphisms | Pathogens | Enzyme activity | Spasticity | Biosynthesis | Hearing impairment | Hearing loss | Pathogenicity | Hearing | Ubiquinone | Enzymatic activity | Cell lines | Deoxyribonucleic acid--DNA | Polymorphism | Index Medicus | Original
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, pp. 886 - 893
Journal Article
Nature Cell Biology, ISSN 1465-7392, 2015, Volume 17, Issue 8, pp. 1074 - 1087
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics... 
JOUBERT-SYNDROME | RPGRIP1 | TRANSPORT | CENTRIOLE BIOGENESIS | PROTEIN | C-ELEGANS | MUTATIONS | PHOTORECEPTOR CELLS | MASTER REGULATOR | PRIMARY CILIA | CELL BIOLOGY | Humans | Pregnancy Proteins - genetics | Databases, Genetic | Suppressor Factors, Immunologic - genetics | Photoreceptor Cells - ultrastructure | Pregnancy Proteins - metabolism | Ellis-Van Creveld Syndrome - genetics | Cerebellum - abnormalities | Genetic Testing - methods | Suppressor Factors, Immunologic - metabolism | Membrane Proteins - deficiency | Transfection | RNA Interference | HEK293 Cells | Kidney Diseases, Cystic - genetics | Genomics - methods | Genetic Predisposition to Disease | Genome-Wide Association Study | Reproducibility of Results | Caenorhabditis elegans - metabolism | Cilia - pathology | Caenorhabditis elegans - genetics | Membrane Proteins - genetics | Mice, Inbred C57BL | Abnormalities, Multiple | Genetic Markers | Eye Abnormalities - genetics | Cilia - metabolism | Zebrafish - genetics | Cilia - genetics | Mice, Knockout | Proteins - genetics | Caenorhabditis elegans - ultrastructure | Phenotype | Animals | Cerebellar Diseases - genetics | Ciliary Motility Disorders - pathology | Proteins - metabolism | Photoreceptor Cells - metabolism | Zebrafish - metabolism | Retina - abnormalities | High-Throughput Nucleotide Sequencing | Ciliary Motility Disorders - metabolism | Mutation | Ciliary Motility Disorders - genetics | RNA | Cilia and ciliary motion | Genetic research | Biosynthesis | Genetic aspects | Research | Gene expression | Properties | Index Medicus | reverse genetics | cilia | ciliopathies | Joubert syndrome | whole-genome siRNA screen | Jeune syndrome
Journal Article
Neurology, ISSN 0028-3878, 10/2016, Volume 87, Issue 17, pp. 1836 - 1842
Background: It has been estimated that the prevalence of Alzheimer disease (AD) and related dementias will triple by 2035, unless effective interventions or... 
Journal Article
Neurology, ISSN 0028-3878, 10/2016, Volume 87, Issue 17, pp. 1836 - 1842
BACKGROUND:It has been estimated that the prevalence of Alzheimer disease (AD) and related dementias will triple by 2035, unless effective interventions or... 
Apolipoprotein E4 - genetics | Genetic Association Studies | Humans | Middle Aged | Risk Factors | Actigraphy | Genotype | Male | Sleep Wake Disorders - diagnosis | Polysomnography | Sleep Wake Disorders - genetics | Pilot Projects | Female | Surveys and Questionnaires | Aged | Index Medicus | Abridged Index Medicus | 244 | Medical Hypothesis
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2016, Volume 170, Issue 3, pp. 760 - 765
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2012, Volume 90, Issue 5, pp. 925 - 933
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2014, Volume 95, Issue 5, pp. 602 - 610
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 03/2017, Volume 127, Issue 3, pp. 912 - 928
Journal Article
Journal of Obstetrics and Gynaecology Canada, ISSN 1701-2163, 11/2018, Volume 40, Issue 11, pp. 1417 - 1423
Most prenatally identified congenital heart defects (CHDs) are the sole structural anomaly detected; however, there is a subgroup of cases where the specific... 
cardiac anomaly | Prenatal diagnosis | exome | next generation sequencing | congenital heart defect
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
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2017, Volume 173, Issue 10, pp. i - i
The cover image, by Rani A. Bashir et al., is based on the Original Article Lin‐Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related... 
Phenotype | Craniosynostoses - genetics | Humans | Histone Acetyltransferases - genetics | Mutation | Craniosynostoses - pathology | Syndrome | Index Medicus
Journal Article