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Journal Article
PLoS ONE, ISSN 1932-6203, 02/2011, Volume 6, Issue 2, pp. e16983 - e16983
textabstractMutations in the F-box only protein 7 gene (FBXO7) cause PARK15, an autosomal recessive neurodegenerative disease presenting with severe... 
DISEASE | BIOLOGY | F-BOX PROTEINS | FUNCTIONAL DOMAINS | MUTATIONS | IDENTIFICATION | INHIBITOR | FAMILY | Neurons - pathology | Humans | Male | Neurons - cytology | Nerve Net - cytology | Brain - metabolism | Parkinsonian Disorders - metabolism | Cell Nucleus - metabolism | Protein Isoforms - metabolism | HEK293 Cells | Aged, 80 and over | Parkinsonian Disorders - genetics | Neurons - metabolism | Cell Line | Brain - cytology | F-Box Proteins - metabolism | Gene Expression Regulation | Nerve Net - pathology | Protein Transport | Animals | Parkinsonian Disorders - pathology | Intracellular Space - metabolism | Nerve Net - metabolism | Brain - pathology | Aged | Mice | Mutation | F-Box Proteins - genetics | Protein Isoforms - genetics | Proteins | Family | Nervous system diseases | Parkinson's disease | Cells | Neurophysiology | Cerebellum | Brain | Biotechnology | Transcription factors | Basal ganglia | Cerebral cortex | Pathogenesis | Substantia nigra | Amino acids | Kinases | Missense mutation | Neurodegeneration | Rodents | Cell cycle | Fibroblasts | Genetics | Levodopa | Localization | Profilin | Movement disorders | Dopamine receptors | Dopamine | Neurodegenerative diseases | Neurons | Cloning | Cortex | Globus pallidus | Central nervous system diseases | Patients | N-Terminus | Cell lines | Isoforms | Nuclei (cytology) | Skin | Immunoreactivity | Position (location) | Alzheimers disease | Apoptosis | Index Medicus
Journal Article
Human Reproduction, ISSN 0268-1161, 06/2010, Volume 25, Issue 6, pp. 1411 - 1414
textabstractBackground Carrier status of a structural balanced chromosome abnormality is associated with recurrent miscarriage. There is, at present, no... 
Journal Article
Genetic Testing and Molecular Biomarkers, ISSN 1945-0265, 09/2012, Volume 16, Issue 9, pp. 115 - 1018
Aims: Most patients (98%) with Friedreich's ataxia (FRDA) are homozygous for the GAA repeat expansion in FXN. Only a few compound heterozygous patients with an... 
Original Articles | RECOMBINATION | LOCUS | GENETICS & HEREDITY | Pedigree | Gene Deletion | Humans | Trinucleotide Repeat Expansion - genetics | Adult | Female | Heterozygote | Iron-Binding Proteins - genetics | Male | Friedreich Ataxia - genetics | Index Medicus | Friedreich's ataxia | gene rearrangement | Gene deletion | Genetic screening | Point mutation
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 01/2005
textabstractCongenital diaphragmatic hernia (CDH) has an incidence of 1 in 3,000 births and a high mortality rate (33%-58%). Multifactorial inheritance,... 
Journal Article