1
40
3
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1111/j.1399-0004.2007.00790.x" target="_blank" rel="noreferrer">http://doi.org/10.1111/j.1399-0004.2007.00790.x</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations
Publisher
An entity responsible for making the resource available
Clinical Genetics
Date
A point or period of time associated with an event in the lifecycle of the resource
2007
Subject
The topic of the resource
Female; Humans; Male; Mutation; DNA Mutational Analysis; Pedigree; Chromosomes; Human; Genetics; Population; Chromosome Mapping; Haplotypes; Pair 2/genetics; Codon; Congenital/genetics; Founder Effect; Frameshift Mutation; Nonsense; Pain Insensitivity; Sequence Deletion; Sodium Channels/genetics
Creator
An entity primarily responsible for making the resource
Goldberg YP; MacFarlane J; MacDonald ML; Thompson J; Dube MP; Mattice M; Fraser R; Young C; Hossain S; Pape T; Payne B; Radomski C; Donaldson G; Ives E; Cox J; Younghusband HB; Green R; Duff A; Boltshauser E; Grinspan GA; Dimon JH; Sibley BG; Andria G; Toscano E; Kerdraon J; Bowsher D; Pimstone SN; Samuels ME; Sherrington R; Hayden MR
Description
An account of the resource
Congenital indifference to pain (CIP) is a rare condition in which patients have severely impaired pain perception, but are otherwise essentially normal. We identified and collected DNA from individuals from nine families of seven different nationalities in which the affected individuals meet the diagnostic criteria for CIP. Using homozygosity mapping and haplotype sharing methods, we narrowed the CIP locus to chromosome 2q24-q31, a region known to contain a cluster of voltage-gated sodium channel genes. From these prioritized candidate sodium channels, we identified 10 mutations in the SCN9A gene encoding the sodium channel protein Nav1.7. The mutations completely co-segregated with the disease phenotype, and nine of these SCN9A mutations resulted in truncation and loss-of-function of the Nav1.7 channel. These genetic data further support the evidence that Nav1.7 plays an essential role in mediating pain in humans, and that SCN9A mutations identified in multiple different populations underlie CIP.
2007
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1111/j.1399-0004.2007.00790.x" target="_blank" rel="noreferrer">10.1111/j.1399-0004.2007.00790.x</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
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
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1002/ana.20702" target="_blank" rel="noreferrer">http://doi.org/10.1002/ana.20702</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Clinical and biochemical spectrum of D-bifunctional protein deficiency
Publisher
An entity responsible for making the resource available
Annals Of Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
2006
Subject
The topic of the resource
Child; Humans; Cohort Studies; Questionnaires; Longitudinal Studies; Magnetic Resonance Imaging; Preschool; infant; Lipid Metabolism; 3-Hydroxyacyl CoA Dehydrogenases/deficiency; Blood Chemical Analysis; Bone and Bones/anatomy & histology/pathology; Brain/anatomy & histology/pathology; Enoyl-CoA Hydratase/deficiency; Fibroblasts/cytology/metabolism; Inborn Errors; Isomerases/deficiency; Kidney/anatomy & histology/pathology; Life Expectancy; Liver/anatomy & histology/pathology; Multienzyme Complexes/deficiency; Peroxisomal Disorders/classification/pathology/physiopathology
Creator
An entity primarily responsible for making the resource
Ferdinandusse S; Denis S; Mooyer PA; Dekker C; Duran M; Soorani-Lunsing RJ; Boltshauser E; Macaya A; Gartner J; Majoie CB; Barth PG; Wanders RJ; Poll-The BT
Description
An account of the resource
OBJECTIVE: D-bifunctional protein deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation. Although case reports and small series of patients have been published, these do not give a complete and balanced picture of the clinical and biochemical spectrum associated with this disorder. METHODS: To improve early recognition, diagnosis, prognosis, and management of this disorder and to provide markers for life expectancy, we performed extensive biochemical studies in a large cohort of D-bifunctional protein-deficient patients and sent out questionnaires about clinical signs and symptoms to the responsible physicians. RESULTS: Virtually all children presented with neonatal hypotonia and seizures and died within the first 2 years of life without achieving any developmental milestones. However, within our cohort, 12 patients survived beyond the age of 2 years, and detailed information on 5 patients with prolonged survival (> or =7.5 years) is provided. INTERPRETATION: Biochemical analyses showed that there is a clear correlation between several biochemical parameters and survival of the patient, with C26:0 beta-oxidation activity in cultured skin fibroblasts being the best predictive marker for life expectancy. Remarkably, three patients were identified without biochemical abnormalities in plasma, stressing that D-bifunctional protein deficiency cannot be excluded when all peroxisomal parameters in plasma are normal.
2006
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ana.20702" target="_blank" rel="noreferrer">10.1002/ana.20702</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2006
3-Hydroxyacyl CoA Dehydrogenases/deficiency
Annals Of Neurology
Backlog
Barth PG
Blood Chemical Analysis
Boltshauser E
Bone and Bones/anatomy & histology/pathology
Brain/anatomy & histology/pathology
Child
Cohort Studies
Dekker C
Denis S
Duran M
Enoyl-CoA Hydratase/deficiency
Ferdinandusse S
Fibroblasts/cytology/metabolism
Gartner J
Humans
Inborn Errors
Infant
Isomerases/deficiency
Journal Article
Kidney/anatomy & histology/pathology
Life Expectancy
Lipid Metabolism
Liver/anatomy & histology/pathology
Longitudinal Studies
Macaya A
Magnetic Resonance Imaging
Majoie CB
Mooyer PA
Multienzyme Complexes/deficiency
Peroxisomal Disorders/classification/pathology/physiopathology
Poll-The BT
Preschool
Questionnaires
Soorani-Lunsing RJ
Wanders RJ
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1055/s-2007-973701" target="_blank" rel="noreferrer">http://doi.org/10.1055/s-2007-973701</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Follow-up in children with Joubert syndrome
Publisher
An entity responsible for making the resource available
Neuropediatrics
Date
A point or period of time associated with an event in the lifecycle of the resource
1997
Subject
The topic of the resource
Child; Cross-Sectional Studies; Female; Humans; infant; Male; Adult; Follow-Up Studies; Disease Progression; adolescent; Preschool; Syndrome; Newborn; retrospective studies; Disease Specific; Mental Retardation/complications; Ataxia/diagnosis/genetics/physiopathology; Cerebellum/abnormalities; Developmental Disabilities/diagnosis/genetics/physiopathology; Facies; Kidney Diseases/complications; Mesencephalon/abnormalities; Muscle Hypotonia/diagnosis/genetics/physiopathology; Ocular Motility Disorders/complications; Respiration Disorders/complications; Survivors/classification
Creator
An entity primarily responsible for making the resource
Steinlin M; Schmid M; Landau K; Boltshauser E
Description
An account of the resource
Although Joubert syndrome (JS) was first reported in 1969 by Joubert et al (21), the long-term outcome is not yet documented. We report 19 children (4 pairs of siblings) from a single institution diagnosed with JS. Nine children were last seen between ages 10 and 18 years, seven between ages 1 and 4 years. Three children died before 3 years of age, showing marked breathing problems and minimal development. The 16 surviving children showed variable motor development, walking was typically achieved between 2 and 10 years, two children did not learn to walk. Cognitive development showed four with development quotient (DQ) of 30 or less and nine with DQ of 60-85, the others could not be judged confidently. Siblings did not show similar development and sex was not predicting outcome. The following oculomotor problems were seen: mystagmus in 11, ocular motor apraxia in six, isolated ptosis in two, and vertical gaze palsy in three. Additional features were retinal involvement in eight and kidney involvement in four, in one of them after normal previous ultrasound. In conclusion development of children with JS can be split into distinct subgroups, with one group dying at a young age. Those who survive show variable motor and cognitive development and can be grouped into those with DQ of less than 30 or those with DQ between 60 and 85. Ophthalmological and renal involvement may change or develop over the years and should be followed carefully.
1997
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1055/s-2007-973701" target="_blank" rel="noreferrer">10.1055/s-2007-973701</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
1997
Adolescent
Adult
Ataxia/diagnosis/genetics/physiopathology
Backlog
Boltshauser E
Cerebellum/abnormalities
Child
Cross-sectional Studies
Developmental Disabilities/diagnosis/genetics/physiopathology
Disease Progression
Disease Specific
Facies
Female
Follow-up Studies
Humans
Infant
Journal Article
Kidney Diseases/complications
Landau K
Male
Mental Retardation/complications
Mesencephalon/abnormalities
Muscle Hypotonia/diagnosis/genetics/physiopathology
Neuropediatrics
Newborn
Ocular Motility Disorders/complications
Preschool
Respiration Disorders/complications
Retrospective Studies
Schmid M
Steinlin M
Survivors/classification
Syndrome