Browse Items (10 total)
- Tags: Chromosomes
The natural history of Unverricht-Lundborg disease: a report of eight genetically proven cases
Tags: 2008, Adolescent, Adult, Age Factors, Atrophy/complications/pathology, Auditory, Backlog, Bhatia KP, Brain Stem/physiology, Brain/pathology/physiopathology, Cerebellar Ataxia/complications/diagnosis, Cerebellum/pathology/physiopathology, Chew NK, Child, Chromosomes, Cordivari C, Dementia/complications/diagnosis, Diagnosis, Differential, Disease Progression, Dystonia/complications/diagnosis, Edwards MJ, Electroencephalography, Electromyography, Evoked Potentials, Evoked Potentials/physiology, Female, Human, Humans, Journal Article, Kim HT, Magnetic Resonance Imaging, Male, Martino D, Mir P, Movement Disorders: Official Journal Of The Movement Disorder Society, Myoclonus/complications/diagnosis, Neuropsychological Tests, Pair 21/genetics, Q3 Scoping Review Results, Quinn NP, Schneider SA, Seizures/complications/diagnosis, Severity Of Illness Index, Unverricht-Lundborg Syndrome/diagnosis/genetics/physiopathology
Palliative care for the family carrying a fetus with a life-limiting diagnosis
Tags: 2007, Attitude To Death, Backlog, Chromosomes, Decision Making, Family/psychology, Female, Fetal Diseases/diagnosis, Human, Humans, Journal Article, Leuthner SR, Munson D, Pair 18/genetics, Palliative Care/methods, Pediatric Clinics of North America, Pregnancy, Prenatal Care, Prenatal Diagnosis, Social Support, Trisomy
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
Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988-2004.
Tags: 2006, Abnormalities, Adult, American Journal Of Medical Genetics.Part A, Backlog, Birth Weight, Brain Diseases/ultrasonography, Chang JH, Chen MR, Chen YJ, Child, Child Health Services/economics/organization & administration/statistics & numerical data, Chromosomes, Congenital/ultrasonography, Female, Gestational Age, Heart Defects, Ho CS, Hospitals, Hsu CH, Huang FY, Human, Humans, Hung HY, Infant, Journal Article, Kao HA, Karyotyping, Lee HC, Lin DS, Lin HY, Lin SP, Longitudinal Studies, Male, Maternal Age, Middle Aged, Multiple/genetics/mortality/pathology, Newborn, Pair 18/genetics, Paternal Age, Pregnancy, Prenatal Diagnosis, Preschool, Retrospective Studies, Shyur SD, Survival Analysis, Survival Rate, Taiwan, Time Factors, Trisomy/diagnosis/genetics, Ultrasonography/methods
Neonatal management of trisomy 18: Clinical details of 24 patients receiving intensive treatment.
Tags: 2006, American Journal Of Medical Genetics.Part A, Baba A, Backlog, Birth Weight, Cause Of Death, Children W/SNI, Chromosome Disorders/genetics/mortality/therapy, Chromosomes, Female, Fetal Diseases/diagnosis/genetics, Fukushima Y, Gestational Age, Human, Humans, Infant, Journal Article, Kawame H, Kosho T, Longitudinal Studies, Male, Nakamura T, Newborn, Pair 18/genetics, Pregnancy, Prenatal Diagnosis, Prognosis, Survival Analysis, Survival Rate, Tamura M, Trisomy/diagnosis/genetics
Trisomy 18 in neonates: prenatal diagnosis, clinical features, therapeutic dilemmas and outcome
Tags: 2006, Abnormalities, Backlog, Bober K, Central Nervous System/abnormalities, Chromosomes, Congenital/diagnosis/genetics/therapy, Female, Goc B, Heart Defects, Human, Humans, Infant, Journal Article, Journal Of Applied Genetics, Krzystolik-Ladzinska J, Longitudinal Studies, Multiple/diagnosis/genetics/mortality/therapy, Newborn, Pair 18, Poland/epidemiology, Pregnancy, Prenatal Diagnosis, Prognosis, Retrospective Studies, Swietlinski J, Trisomy, Walencka Z, Wiecek-Wlodarska D, Wloch A, Wojciechowska E
Type I glutaric aciduria, part 1: natural history of 77 patients
Tags: 2003, American Journal Of Medical Genetics.Part C, Seminars In Medical Genetics, Backlog, Brain Diseases, Chromosomes, Dystonia/complications, Glutarates/urine, Glutaryl-CoA Dehydrogenase, Human, Humans, Inborn/complications/diet therapy/drug therapy/genetics, Journal Article, Lysine/metabolism, Magnetic Resonance Imaging, Metabolic, Morton DH, Mutation/genetics, Necrosis, Oxidoreductases Acting on CH-CH Group Donors/deficiency/genetics/metabolism, Pair 19/genetics, Puffenberger EG, Putamen/blood supply/pathology, Q3 Scoping Review Results, Robinson DL, Strauss KA, Tryptophan/metabolism
Survival in trisomy 13 and trisomy 18 cases ascertained from population based registers.
Tags: 2002, Backlog, Brewer CM, Carothers AD, Chromosomes, FitzPatrick DR, Holloway SH, Human, Humans, Infant, Journal Article, Journal Of Medical Genetics, Longitudinal Studies, Newborn, Pair 13/genetics, Pair 18/genetics, Registries/statistics & numerical data, Scotland, Stone DH, Survival Analysis, Trisomy
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
Natural history of trisomy 13
Tags: 1994, Adult, Archives of Disease in Childhood, Backlog, Burn J, Chromosomes, Congenital/diagnosis/genetics/mortality, England/epidemiology, Female, Fetal Diseases/diagnosis, Heart Defects, Human, Humans, Hunter S, Incidence, Infant, Journal Article, Longitudinal Studies, Male, Neural Tube Defects/diagnosis/genetics/mortality, Newborn, Pair 13, Pregnancy, Prenatal Diagnosis, Syndrome, Trisomy, Wright MJ, Wyllie JP