Browse Items (28 total)
- Tags: Mutation
Autonomic breathing abnormalities in Rett syndrome: Caregiver perspectives in an international database study
Tags: 2017, abdominal bloating, Adult, Article, autonomic dysfunction, bloating, breath holding, breath-holding, breathing difficulties, breathing disorder, Breathing disorders, breathing pattern, Caregiver, characteristics, Child, Data Base, Developmental Disability, Downs J, Epstein A, Female, Genotype, Heyworth J, Human, hyperventilation, International database, Journal of Neurodevelopmental Disorders, Leonard H, MacKay J, Male, mecp2, Mutation, Noninvasive Ventilation, onset age, oxygen, Priority Journal, Questionnaire, Rare disorder, rebreathing, Rett syndrome, School Child, Trajectory, Wong K
Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome
Tags: 2012, Adolescent, Adult, Age Factors, Annese F, Barrish J O, Bone Diseases/complications/epidemiology, Caeg E, characteristics, Child, Child Preschool, Child Nutrition Disorders/epidemiology/etiology/genetics, Constipation, dysmotility, Dysphagia, feeding difficulties, Female, Gastrointestinal Diseases/epidemiology/etiology/genetics, gastrointestinal dysmotility, Geerts S, Glaze D G, Growth Disorders/epidemiology/etiology/genetics, Health Surveys, Humans, Infant, Infant Nutrition Disorders/epidemiology/etiology/genetics, Journal Of Pediatric Gastroenterology And Nutrition, Lane J B, Lee H S, Male, McNair L, Methyl-CpG-Binding Protein 2/genetics, Motil K J, Mutation, Neul J L, Nutrition Disorders/epidemiology/etiology/genetics, Parents, Percy A K, Prevalence, Rett syndrome, Rett Syndrome/complications/genetics, Skinner S A, Surveys And Questionnaires, Trajectory, Young Adult
Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease)
Tags: 2011, Adams H, Adolescent, Adult, Analysis of Variance, Augustine E F, Beck C A, Child, Child Preschool, Cialone J, Cross-sectional Studies, Deblieck E A, Disabled Persons, Disease Progression, Dure L S, Genotype, Homozygote, Humans, Kwon J M, Levy E, Marshall F J, Membrane Glycoproteins, Mink J W, Molecular Chaperones, Mutation, NCL3, Neurology, Neuronal Ceroid-Lipofuscinoses, Neuropsychological Tests, Newhouse N J, Prospective Studies, Ramirez-Montealegre D, Regression Analysis, Reproducibility of Results, Rose K R, Rothberg P G, scale development, tone and motor problems, tool development, UBDRS, Vierhile A, Young Adult
Sleep disturbance in Mowat-Wilson syndrome
Tags: 0 (Homeodomain Proteins), 0 (Repressor Proteins), 0 (ZEB2 protein human), 2016, Adolescent, Adult, American Journal of Medical Genetics Part A, Australia, Behavior Rating Scale, characteristics, Child, Child Preschool, Einfeld S, Evans E, Facies, Female, Gene Expression, Hirschsprung Disease/co [Complications], Hirschsprung Disease/di [Diagnosis], Hirschsprung Disease/ge [Genetics], Hirschsprung Disease/pp [Physiopathology], Homeodomain Proteins/ge [Genetics], Humans, Intellectual Disability/co [Complications], Intellectual Disability/di [Diagnosis], Intellectual Disability/ge [Genetics], Intellectual Disability/pp [Physiopathology], Male, Microcephaly/co [Complications], Microcephaly/di [Diagnosis], Microcephaly/ge [Genetics], Microcephaly/pp [Physiopathology], Middle Aged, Mowat D, Mowat-Wilson syndrome, Mutation, Repressor Proteins/ge [Genetics], Severity Of Illness Index, sleep disturbance/disorders, Sleep Initiation and Maintenance Disorders/co [Complications], Sleep Initiation and Maintenance Disorders/di [Diagnosis], Sleep Initiation and Maintenance Disorders/ge [Genetics], Sleep Initiation and Maintenance Disorders/pp [Physiopathology], Surveys And Questionnaires, Trajectory, Wilson M
Level of purposeful hand function as a marker of clinical severity in Rett syndrome
Tags: 2010, Adolescent, Adult, Age Factors, Bebbington A, characteristics, Child, Child Preschool, Cross-sectional Studies, Databases as Topic, Developmental Medicine and Child Neurology, Downs J, Female, Genotype, Ghosh S, Hand, Humans, Jacoby P, Kaufmann W E, Leonard H, Methyl-CpG-Binding Protein 2, Motor Activity, Mutation, Phenotype, Registries, Rett syndrome, Severity Of Illness Index, tone and motor problems, Trajectory, Video Recording, Walking, Williams A, Young Adult
Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype
Tags: 0 (Methyl-CpG-Binding Protein 2), 2016, Adolescent, Adult, American Journal of Medical Genetics Part A, Anderson B, Boban S, characteristics, Child, Child Preschool, Downs J, Epilepsy/di [diagnosis], Epilepsy/ge [Genetics], Epstein A, Genetic Association Studies, Genotype, Humans, Infant, Infant Newborn, Leonard H, Methyl-CpG-Binding Protein 2/ge [Genetics], Middle Aged, Murphy N, Mutation, Phenotype, Rett syndrome, Rett Syndrome/di [Diagnosis], Rett Syndrome/ge [Genetics], Rett Syndrome/pp [Physiopathology], Severity Of Illness Index, sleep disturbance/disorders, Sleep Wake Disorders/di [Diagnosis], Sleep Wake Disorders/ge [Genetics], Trajectory, Wong K, Young Adult
Benefits of Early Referral to Pediatric Palliative Care for a Child With a Rare Disease
Tags: 2018, August 2018 List, Child, Clinical, Connective Tissue Diseases Diagnosis, Connective Tissue Diseases Familial and Genetic In Infancy and Childhood, Connective Tissue Diseases Symptoms, Connective Tissue Diseases Therapy In Infancy and Childhood, Decision Making, Dyspnea Drug Therapy, Face Pathology, Family Education, Fibrosis, Health Education, Intellectual Disability, Intensive Care Units, Male, McHardy M, Morphine Therapeutic Use, Muscle, Mutation, Pain Management, Palliative Care, Parental Attitudes, Pediatric, Pediatric Care, Pediatrics, Referral And Consultation, Skeletal Abnormalities, Vadeboncoeur C
AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset
Tags: 2014, Age Factors, Armstrong L, Backlog, Biancheri R, Brain, Cytokines, Female, Humans, Infant, Journal Article, Mutation, Neoplasm Proteins, Neurodegenerative Diseases, Neurogenetics, Newborn, RNA-Binding Proteins, Ross CJ, Rossi A, Shyr C, Sinclair G, Tarailo-Graovac M, van Karnebeek CD, Wasserman WW, White Matter
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
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands
Tags: 2008, Acetyltransferases/chemistry/deficiency/genetics, Adolescent, Adult, Age of Onset, Backlog, Child, DNA Mutational Analysis, DNA/genetics, Durand S, Female, Genotype, Humans, Infant, Journal Article, Male, Middle Aged, Missense, Models, Molecular, Molecular Genetics and Metabolism, Mucopolysaccharidosis III/classification/enzymology/genetics/physiopathology, Mutation, Netherlands, Phenotype, Poorthuis BJ, Preschool, Pshezhetsky AV, Q3 Scoping Review Results, Ruijter GJ, Valstar MJ, van de Kamp JM, van der Helm RM, van Diggelen OP, Wevers RA, Wijburg FA
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
Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up
Tags: 2008, 3-Hydroxyacyl CoA Dehydrogenases/deficiency, Acta Ophthalmologica, Alm J, Atrophy, Backlog, Child, Choroid Diseases/etiology/pathology, Cross-sectional Studies, Disease Progression, Electroretinography, Eye Diseases/diagnosis/etiology/physiopathology, Fahnehjelm KT, Female, Follow-up Studies, Haglind CB, Halldin M, Holmstrom G, Humans, Hypoglycemia/complications, Inborn Errors/complications/genetics, Infant, Journal Article, Male, Metabolism, Mutation, Myopia/etiology/physiopathology, Nemeth A, Nordenstrom A, Preschool, Q3 Scoping Review Results, Retinal Diseases/etiology/pathology, Severity Of Illness Index, Vision Disorders/etiology/physiopathology, Visual Acuity, von Dobeln U, Ying L
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
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency
Tags: 2005, Acyl-CoA Dehydrogenase, Andresen BS, Backlog, Bischoff C, Bonham JR, Cardiomyopathies/diagnosis/genetics, Carnitine/analogs & derivatives/metabolism, Chakrapani A, Clark S, Downing M, Exons, Fatty Acids/metabolism, Fibroblasts/metabolism, Gregersen N, Homozygote, Humans, Inborn Errors/diagnosis/genetics, Journal Article, Journal Of Inherited Metabolic Disease, Lipid Metabolism, Long-Chain/deficiency, Longitudinal Studies, Male, Manning NJ, Mitochondria/pathology, Multienzyme Complexes/deficiency, Muntoni F, Mutation, Olpin SE, Olsen RK, Phenotype, Polyneuropathies/diagnosis/genetics, Pourfarzam M, Prognosis, Rhabdomyolysis/diagnosis/genetics, Sharrard M, Turnbull DN
Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency
Tags: 2006, Adolescent, Backlog, Bohm M, Carrier Proteins, Child, Cytochrome-c Oxidase Deficiency/diagnosis/genetics/mortality, Czech Republic, DNA, Female, Hansikova H, Houstek J, Houstkova H, Humans, Infant, Journal Article, Karczmarewicz E, Male, Membrane Proteins, Mierzewska H, Mitochondrial Proteins, Mitochondrial/genetics, Mutation, Newborn, Pediatric Research, Piekutowska-Abramczuk D, Poland, Preschool, Prognosis, Pronicka E, Pronicki M, Proteins/genetics, Q3 Scoping Review Results, Sequence Deletion, Slovakia, Sykut-Cegielska J, Tesarova M, Vesela K, Zeman J
Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations
Tags: 2002, American Journal Of Medical Genetics, Backlog, DNA Mutational Analysis, DNA/chemistry/genetics, Endopeptidases, Goebel HH, Heim P, Journal Article, Kohlschutter A, Longitudinal Studies, Meyer K, Mutation, Neuronal Ceroid-Lipofuscinoses/genetics/pathology/physiopathology, Peptide Hydrolases/genetics/metabolism, Psychomotor Performance/physiology, Seizures/physiopathology, Severity Of Illness Index, Steinfeld R, Ullrich K, Vision/physiology, von Gregory H
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients
Tags: 2004, Admiraal RJ, Adolescent, Adult, American Journal Of Medical Genetics.Part A, Backlog, Barth PG, Child, Cohort Studies, de Klerk JB, Developmental Disabilities/pathology, Duran M, Eye Diseases/pathology, Face/abnormalities, Female, Follow-up Studies, Gootjes J, Growth Disorders/pathology, Humans, Infant, Journal Article, Kidney/pathology, Liver/pathology, Male, Membrane Proteins/genetics, Mutation, Peroxisomal Disorders/genetics/mortality/pathology, Phenotype, Poll-The BT, Preschool, Q3 Scoping Review Results, Seizures/pathology, Spleen/pathology, Survival Rate, Time Factors, Wanders RJ, Waterham HR, Wenniger-Prick LJ
Clinical phenotype, prognosis and mitochondrial DNA mutation load in mitochondrial encephalomyopathies
Tags: 2002, Adolescent, Adult, Backlog, Child, Chu CC, DNA, Female, Huang CC, Humans, Journal Article, Journal Of Biomedical Science, Kuo HC, Liou CW, Ma YS, Male, Mitochondrial Encephalomyopathies/diagnosis/etiology/genetics, Mitochondrial/genetics, Muscle, Mutation, Prognosis, Q3 Scoping Review Results, Skeletal/pathology, Wei YH
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
Mitochondrial disorders
Tags: 2004, Adult, Backlog, Brain, Child, Di Donato S, DNA, DNA/genetics, Electron Transport/genetics, Gene Rearrangement/genetics, Humans, Journal Article, Mitochondrial Diseases/genetics/therapy, Mitochondrial/genetics, Mutation, Oxidative Phosphorylation, Point Mutation/genetics, Proteins/genetics, Zeviani M
The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature
Tags: 2003, AIM, alpha-Glucosidases/ge [Genetics], alpha-Glucosidases/me [Metabolism], Backlog, Bakker HD, Blood Chemical Analysis, Brain/pa [Pathology], Cardiomegaly/di [Diagnosis], Cardiomegaly/et [Etiology], Child Development, de Klerk JB, Disease Progression, Glycogen Storage Disease Type II/co [Complications], Glycogen Storage Disease Type II/mo [Mortality], Glycogen Storage Disease Type II/pp [Physiopathology], Hop W, Humans, IM, Infant, Journal Article, Loonen MC, Mutation, Netherlands/ep [Epidemiology], Newborn/gd [Growth & Development], Pediatrics, Poll-The BT, Premature, Reuser AJ, Smeitink JA, Smit GP, Survival Analysis, van den Hout HM, Van der Ploeg AT, van Diggelen OP
Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease
Tags: 2004, Adolescent, Age of Onset, Backlog, Belmont JW, Cardiomyopathies/etiology/mortality, Child, Craigen WJ, DNA, Electron Transport, Electron Transport Chain Complex Proteins/deficiency, Female, Fernbach SD, Humans, Hunter JV, Infant, Journal Article, Male, Mitochondrial, Mitochondrial Diseases/complications/genetics/mortality, Mutation, Neish SR, Neuromuscular Diseases/etiology/mortality, Newborn, Non-U.S. Gov't, Pediatrics, Preschool, Research Support, Retrospective Studies, Scaglia F, Smith EO, Survival Analysis, Towbin JA, Vladutiu GD, Vogel H, Ware SM, Wong LJ
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients
Tags: 1997, 3-Hydroxyacyl CoA Dehydrogenases/deficiency, Backlog, Cardiomyopathies/etiology, Fatal Outcome, Female, Humans, Hypoglycemia/etiology, Inborn Errors/complications/diet therapy/genetics, Infant, Jackson S, Journal Article, Lipid Metabolism, Liver Diseases/etiology, Male, Muscle Hypotonia/etiology, Mutation, Newborn, Palotie A, Pihko H, Q3 Scoping Review Results, Retinal Diseases/etiology, Salo MK, The Journal Of Pediatrics, Tyni T, Valanne L, Venizelos N, Viinikka L, von Dobeln U, Wanders R
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