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Wyszukujesz frazę ""Iles, D. E."" wg kryterium: Autor


Tytuł :
The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree.
Autorzy :
Adeokun AM; Department of Human Genetics, University of Newcastle upon Tyne, United Kingdom.
West SP
Ellis FR
Halsall PJ
Hopkins PM
Foroughmand AM
Iles DE
Robinson RL
Stewart AD
Curran JL
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Źródło :
American journal of human genetics [Am J Hum Genet] 1997 Apr; Vol. 60 (4), pp. 833-41.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Point Mutation*
Calcium Channels/*genetics
Malignant Hyperthermia/*genetics
Muscle Proteins/*genetics
Female ; Gene Frequency ; Genetic Predisposition to Disease ; Humans ; Lod Score ; Male ; Meiosis ; Microsatellite Repeats ; Pedigree ; Polymerase Chain Reaction ; Ryanodine Receptor Calcium Release Channel ; Sequence Analysis, DNA ; United Kingdom
Czasopismo naukowe
Tytuł :
[Malignant hyperthermia as a complication of anesthesia: predisposition is hereditary].
Autorzy :
Snoeck MM; Afd. Anesthesiologie, Academisch Ziekenhuis, Nijmegen.
Gielen MJ
Sengers RC
Padberg GW
Iles DE
Booij LH
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Transliterated Title :
Maligne hyperthermie als complicatie van anesthesie: aanleg is erfelijk.
Źródło :
Nederlands tijdschrift voor geneeskunde [Ned Tijdschr Geneeskd] 1997 Mar 29; Vol. 141 (13), pp. 616-9.
Typ publikacji :
English Abstract; Journal Article; Review
MeSH Terms :
Genetic Predisposition to Disease*
Malignant Hyperthermia/*genetics
Calcium Channels/genetics ; Calmodulin-Binding Proteins/genetics ; Genes, Dominant ; Humans ; Malignant Hyperthermia/diagnosis ; Muscle Proteins/genetics ; Point Mutation ; Ryanodine Receptor Calcium Release Channel
Czasopismo naukowe
Tytuł :
Properties of three COOH-terminal splice variants of a human cardiac L-type Ca2+-channel alpha1-subunit.
Autorzy :
Klöckner U; Department of Physiology, Universität zu Köln, Cologne, Germany.
Mikala G
Eisfeld J
Iles DE
Strobeck M
Mershon JL
Schwartz A
Varadi G
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Źródło :
The American journal of physiology [Am J Physiol] 1997 Mar; Vol. 272 (3 Pt 2), pp. H1372-81.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
MeSH Terms :
Alternative Splicing*
Genetic Variation*
Calcium Channels/*physiology
Heart/*physiology
Amino Acid Sequence ; Base Sequence ; Calcium Channels/biosynthesis ; Calcium Channels/chemistry ; Calcium Channels, L-Type ; Cloning, Molecular ; Cosmids ; DNA, Complementary ; Genomic Library ; Humans ; Kinetics ; Lymphocytes/metabolism ; Macromolecular Substances ; Membrane Potentials ; Molecular Sequence Data ; RNA, Messenger/metabolism ; Recombinant Proteins/biosynthesis ; Recombinant Proteins/chemistry ; Recombinant Proteins/metabolism ; Transcription, Genetic
Czasopismo naukowe
Tytuł :
Anesthesiologic problems in Williams syndrome: the CACNL2A locus is not involved.
Autorzy :
Mammi I; Department of Pediatrics, University of Padua, Italy.
Iles DE
Smeets D
Clementi M
Tenconi R
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Źródło :
Human genetics [Hum Genet] 1996 Sep; Vol. 98 (3), pp. 317-20.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Anesthesia/*adverse effects
Calcium Channels/*genetics
Malignant Hyperthermia/*etiology
Williams Syndrome/*genetics
Adolescent ; Chromosome Deletion ; Chromosomes, Human, Pair 7 ; Heterozygote ; Homeostasis ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Malignant Hyperthermia/genetics ; Williams Syndrome/complications
Czasopismo naukowe
Tytuł :
Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families.
Autorzy :
Iles DE; Department of Cell Biology and Histology, Faculty of Medical Sciences, Catholic University of Nijmegen, The Netherlands.
Lehmann-Horn F
Scherer SW
Tsui LC
Olde Weghuis D
Suijkerbuijk RF
Heytens L
Mikala G
Schwartz A
Ellis FR
et. al.
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Źródło :
Human molecular genetics [Hum Mol Genet] 1994 Jun; Vol. 3 (6), pp. 969-75.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
MeSH Terms :
Chromosomes, Human, Pair 7*
Calcium Channels/*genetics
Malignant Hyperthermia/*genetics
Muscle Proteins/*genetics
Animals ; Base Sequence ; Blotting, Southern ; Chromosome Mapping ; Chromosomes, Artificial, Yeast ; Cloning, Molecular ; DNA Primers ; DNA, Satellite/genetics ; Europe ; Female ; Genetic Linkage ; Genetic Markers ; Genetic Predisposition to Disease ; Humans ; Hybrid Cells ; In Situ Hybridization, Fluorescence ; Macromolecular Substances ; Male ; Mice ; Molecular Sequence Data ; Muscles/metabolism ; Pedigree ; Polymorphism, Genetic ; Repetitive Sequences, Nucleic Acid ; Ryanodine Receptor Calcium Release Channel
Czasopismo naukowe
Tytuł :
Refined localization of the alpha 1-subunit of the skeletal muscle L-type voltage-dependent calcium channel (CACNL1A3) to human chromosome 1q32 by in situ hybridization.
Autorzy :
Iles DE; Department of Cell Biology and Histology, Faculty of Medical Sciences, Catholic University of Nijmegen, The Netherlands.
Segers B
Olde Weghuis D
Suijkerbuijk R
Mikala G
Schwartz A
Wieringa B
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Źródło :
Genomics [Genomics] 1994 Feb; Vol. 19 (3), pp. 561-3.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
MeSH Terms :
Chromosomes, Human, Pair 1*
Genes*
Calcium Channels/*genetics
Base Sequence ; Chromosome Mapping ; Cosmids ; Genetic Markers ; Humans ; In Situ Hybridization, Fluorescence ; Molecular Sequence Data ; Repetitive Sequences, Nucleic Acid ; Sequence Alignment
Czasopismo naukowe
Tytuł :
Genetic mapping of the beta 1- and gamma-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility.
Autorzy :
Iles DE; Department of Cell Biology and Histology, Faculty of Medical Sciences, Catholic University of Nijmegen, The Netherlands.
Segers B
Sengers RC
Monsieurs K
Heytens L
Halsall PJ
Hopkins PM
Ellis FR
Hall-Curran JL
Stewart AD
et. al.
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Źródło :
Human molecular genetics [Hum Mol Genet] 1993 Jul; Vol. 2 (7), pp. 863-8.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosomes, Human, Pair 17*
Calcium Channels/*genetics
Malignant Hyperthermia/*genetics
Base Sequence ; Calcium Channels, L-Type ; Chromosome Mapping ; Cloning, Molecular ; DNA/genetics ; Female ; Genetic Markers ; Humans ; Male ; Malignant Hyperthermia/metabolism ; Molecular Sequence Data ; Muscle Proteins/genetics ; Muscles/metabolism ; Oligodeoxyribonucleotides/genetics ; Pedigree ; Polymorphism, Genetic ; Repetitive Sequences, Nucleic Acid
Czasopismo naukowe
Tytuł :
Refined genetic localization for central core disease.
Autorzy :
Mulley JC; Department of Cytogenetics and Molecular Genetics, Adelaide Children's Hospital, North Adelaide, Australia.
Kozman HM
Phillips HA
Gedeon AK
McCure JA
Iles DE
Gregg RG
Hogan K
Couch FJ
MacLennan DH
et. al.
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Źródło :
American journal of human genetics [Am J Hum Genet] 1993 Feb; Vol. 52 (2), pp. 398-405.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosomes, Human, Pair 19*
Malignant Hyperthermia/*genetics
Muscular Diseases/*genetics
Alleles ; Child ; Chromosome Mapping ; Female ; Genes, Dominant ; Genetic Linkage ; Humans ; Male ; Meiosis ; Pedigree ; Phenotype ; Recombination, Genetic
Czasopismo naukowe
Tytuł :
Localization of the gamma-subunit of the skeletal muscle L-type voltage-dependent calcium channel gene (CACNLG) to human chromosome band 17q24 by in situ hybridization and identification of a polymorphic repetitive DNA sequence at the gene locus.
Autorzy :
Iles DE; Department of Cell Biology and Histology, Faculty of Medical Sciences, Catholic University of Nijmegen, The Netherlands.
Segers B
Weghuis DO
Suikerbuijk R
Wieringa B
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Źródło :
Cytogenetics and cell genetics [Cytogenet Cell Genet] 1993; Vol. 64 (3-4), pp. 227-30.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosomes, Human, Pair 17*
DNA*
Polymorphism, Genetic*
Repetitive Sequences, Nucleic Acid*
Calcium Channels/*genetics
Muscles/*metabolism
Amino Acid Sequence ; Base Sequence ; Chromosome Mapping ; Humans ; In Situ Hybridization ; Male ; Molecular Sequence Data ; Sequence Analysis, DNA
Czasopismo naukowe
Tytuł :
High-resolution physical mapping of four microsatellite repeat markers near the RYR1 locus on chromosome 19q13.1 and apparent exclusion of the MHS locus from this region in two malignant hyperthermia susceptible families.
Autorzy :
Iles DE; Department of Cell Biology and Histology, Catholic University of Nijmegen, The Netherlands.
Segers B
Heytens L
Sengers RC
Wieringa B
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Źródło :
Genomics [Genomics] 1992 Nov; Vol. 14 (3), pp. 749-54.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosomes, Human, Pair 19*
Repetitive Sequences, Nucleic Acid*
DNA, Satellite/*genetics
Malignant Hyperthermia/*genetics
Receptors, Cholinergic/*genetics
Animals ; Base Sequence ; Chromosome Mapping ; Cricetinae ; Female ; Genetic Linkage ; Genetic Markers ; Haplotypes ; Humans ; Hybrid Cells ; Male ; Molecular Sequence Data ; Pedigree ; Ryanodine Receptor Calcium Release Channel
Czasopismo naukowe

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