Browse Items (9 total)
- Tags: Pedigree
Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation
Tags: 2007, Adolescent, Adult, Backlog, Child, de Vries M, DNA, DNA Mutational Analysis, European Journal of Paediatric Neurology, Female, Hol F, Humans, Journal Article, MERRF Syndrome/complications/genetics/physiopathology, Mitochondrial/genetics, Morava E, Muscular Diseases/etiology/genetics/physiopathology, Mutation, Pain/etiology/genetics/physiopathology, Pedigree, Polymerase Chain Reaction, Q3 Scoping Review Results, Rodenburg R, Smeitink JA, van de Glind G
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations
Tags: 2007, Andria G, Backlog, Boltshauser E, Bowsher D, Chromosome Mapping, Chromosomes, Clinical Genetics, Codon, Congenital/genetics, Cox J, Dimon JH, DNA Mutational Analysis, Donaldson G, Dube MP, Duff A, Female, Founder Effect, Frameshift Mutation, Fraser R, Genetics, Goldberg YP, Green R, Grinspan GA, Haplotypes, Hayden MR, Hossain S, Human, Humans, Ives E, Journal Article, Kerdraon J, MacDonald ML, MacFarlane J, Male, Mattice M, Mutation, Nonsense, Pain Insensitivity, Pair 2/genetics, Pape T, Payne B, Pedigree, Pimstone SN, Population, Radomski C, Samuels ME, Sequence Deletion, Sherrington R, Sibley BG, Sodium Channels/genetics, Thompson J, Toscano E, Young C, Younghusband HB
Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome
Tags: 2008, Abdel-Ghaffar TY, Backlog, Bolz HJ, Child, Congenital/diagnosis/genetics, Ebermann I, Elsayed SM, Elsobky E, Female, Homozygote, Humans, Infant, Journal Article, Liver Diseases/genetics/physiopathology, Male, Mutation, Neurology, Nurnberg G, Nurnberg P, Pain Insensitivity, Pedigree, Sodium Channels/genetics, Syndrome
Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes
Tags: 2003, Age of Onset, Annals Of Neurology, Aromatic-L-Amino-Acid Decarboxylases/cerebrospinal fluid/deficiency/genetics, Autonomic Nervous System Diseases/genetics/physiopathology, Backlog, Child, Consanguinity, Female, Hemodynamics/physiology, Humans, Hyland K, Infant, Journal Article, Longitudinal Studies, Magnetic Resonance Imaging, Male, McKenna CE, Movement Disorders/genetics/physiopathology, Nervous System Diseases/cerebrospinal fluid/genetics/physiopathology, Newborn, Nitroprusside/diagnostic use, Pedigree, Preschool, Q3 Scoping Review Results, Saul JP, Speller NB, Swoboda KJ, Treatment Outcome, Vasodilator Agents/diagnostic use
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis
Tags: 2003, Adams S, American Journal Of Human Genetics, Amino Acid, Amino Acid Sequence, Animals, Arbour L, Atherton DJ, Backlog, Balci S, Base Sequence, Bode H, Campbell ME, DNA Primers, Douglas J, Family, Feingold M, Female, Fibroma/genetics, Futreal PA, Genetic Markers, Gingival Hypertrophy/genetics, Hanks S, Humans, In Situ Hybridization, Journal Article, Keser G, Kleijer W, Male, Mancini G, McGrath JA, Membrane Proteins/genetics, Molecular Sequence Data, Muntoni F, Mutation, Myofibromatosis/genetics, Nanda A, Non-U.S. Gov't, Pedigree, Pope FM, Rahman N, Research Support, Reverse Transcriptase Polymerase Chain Reaction, Sequence Alignment, Sequence Homology, Skin Neoplasms/genetics, Superti-Furga A, Teare MD, Warman M
Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis
Tags: 2003, American Journal Of Human Genetics, Amino Acid Sequence, Backlog, Base Sequence, Bonafe L, Child, Chromosome Mapping, Davis GE, Difeo A, Dowling O, Exons, Female, Fibroma/genetics, Focal/genetics, Genes, Genetic Markers, Glomerulosclerosis, Glucksman MJ, Grum-Tokars V, Humans, Infant, Journal Article, Kayserili H, Male, Martignetti JA, Martin GS, Membrane Proteins/genetics, Missense, Models, Molecular, Mutation, Narla G, Norton K, P.H.S., Paller AS, Pedigree, Protein Conformation, Protein Structure, Ramirez MC, Recessive, Research Support, Secondary, Syndrome, Teebi AS, Tukel T, U.S. Gov't, Yuksel-Apak M
Follow-up on seven adult patients with mild Sanfilippo B-disease.
Tags: 1987, Adult, Age Factors, American Journal Of Medical Genetics, Backlog, Dementia/complications/genetics, Female, Follow-up Studies, Humans, Journal Article, Longitudinal Studies, Male, Mental Retardation/complications/genetics, Mucopolysaccharidoses/genetics, Mucopolysaccharidosis III/genetics, Pedigree, van de Kamp JJ, van Schrojenstein-de Valk HM
A Genomewide Linkage-Disequilibrium Scan Localizes the Saguenay -Lac-Saint-Jean Cytochrome Oxidase Deficiency to 2p16
Tags: 2001, American Journal Of Human Genetics, Backlog, Base Sequence, Chromosome Mapping, Chromosomes, Cytochrome-c Oxidase Deficiency, Daly MJ, Delmonte T, Disease Specific, DNA Mutational Analysis, DNA/chemistry/genetics, Electron Transport Complex IV/genetics, Family Health, Female, Gene Frequency, Genes/genetics, Genome, Haplotypes, Hudson TJ, Human, Humans, Journal Article, Lander ES, Lee N, Leigh Disease/enzymology/genetics, Linkage Disequilibrium, Male, Microsatellite Repeats, Mitchell GA, Molecular Sequence Data, Morin CC, Mutation, Pair 2/genetics, Pedigree, Polymorphism, Rioux JD, Robinson BH, Single Nucleotide, Xu F
Mitochondrial encephalomyopathy: variable clinical expression within a single kindred
Tags: 1993, Adolescent, Adult, Aged, Backlog, Brain/radiography, Byrne E, Child, Crimmins D, DNA/analysis, Female, Humans, Jean-Francis B, Journal Article, Journal Of Neurology, Neurosurgery, And Psychiatry, Male, Middle Aged, Mitochondrial Encephalomyopathies/genetics/pathology/radiography, Morris JG, Muscles/pathology/ultrastructure, Pamphlett R, Pedigree, Preschool, Q3 Scoping Review Results, Stevens S, Sue CM, Tomography, Walker GL, X-Ray Computed, Yiannikas C