Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q.
American journal of human genetics | 1999-03-01 | PMID 10053013
Nicolao P, Xiang F, Gunnarsson L G and 4 more
Publication catalog
Biomedical publications with connected research
Browse 1,060,000 source-attributed publications. Article pages show available bibliographic context, indexed concepts and SPECTER2 related publications where supported by the source and graph. Missing metadata is not invented, and source retraction notices remain visible.
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Publications
Page 1109 of 10600
The predisposition to type 1 diabetes linked to the human leukocyte antigen complex includes at least one non-class II gene.
American journal of human genetics | 1999-03-01 | PMID 10053014
Lie B A, Todd J A, Pociot F and 7 more
A genomewide analysis provides evidence for novel linkages in inflammatory bowel disease in a large European cohort.
American journal of human genetics | 1999-03-01 | PMID 10053016
Hampe J, Schreiber S, Shaw S H and 16 more
Identifying families with likely genetic protective factors against Alzheimer disease.
American journal of human genetics | 1999-03-01 | PMID 10053018
Silverman J M, Smith C J, Marin D B and 4 more
The transmission/disequilibrium test and parental-genotype reconstruction: the reconstruction-combined transmission/ disequilibrium test.
American journal of human genetics | 1999-03-01 | PMID 10053021
Knapp M
Allele-specific differences in apolipoprotein C-III mRNA expression in human liver.
Clinical chemistry | 1999-03-01 | PMID 10053033
Esterbauer H, Hell E, Krempler F and 1 more
Frequency of BRCA1 mutation 5382insC in German breast cancer patients.
Gynecologic oncology | 1999-03-01 | PMID 10053113
Backe J, Hofferbert S, Skawran B and 8 more
Genes: BRCA1
Expression and mutation analysis of the p53 gene in astrocytoma.
Journal of the Formosan Medical Association = Taiwan yi zhi | 1999-01-01 | PMID 10063271
Hwang S L, Hong Y R, Sy W D and 3 more
[Molecular biology of breast carcinoma. Current diagnostic, therapeutic and prognostic aspects].
Zentralblatt fur Chirurgie | 1998-01-01 | PMID 10063562
Schwarz L E, Schlag P M
Characterization of rpoS alleles in Escherichia coli O157:H7 and in other E. coli serotypes.
Journal of applied microbiology | 1999-02-01 | PMID 10063629
Ferreira A, Rendano L, Wiedmann M and 1 more
Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients.
Neuromuscular disorders : NMD | 1999-01-01 | PMID 10063835
Tanner S M, Schneider V, Thomas N S and 3 more
Genes: MTM1
FHITness and cancer.
Oncology research | 1998-01-01 | PMID 10063967
Druck T, Berk L, Huebner K
Genes: FHIT
Compound heterozygosity for one novel and one recurrent mutation in a Thai patient with severe protein S deficiency.
Thrombosis and haemostasis | 1999-02-01 | PMID 10063989
Pung-amritt P, Poort S R, Vos H L and 6 more
Genes: CGA
The factor V gene A4070G mutation and the risk of venous thrombosis.
Thrombosis and haemostasis | 1999-02-01 | PMID 10063990
Alhenc-Gelas M, Nicaud V, Gandrille S and 6 more
Genes: APC
Incidence of venous thromboembolism in families with inherited thrombophilia.
Thrombosis and haemostasis | 1999-02-01 | PMID 10063991
Simioni P, Sanson B J, Prandoni P and 9 more
The factor II G20210A and factor V G1691A gene transitions and coronary heart disease.
Thrombosis and haemostasis | 1999-02-01 | PMID 10063993
Gardemann A, Arsic T, Katz N and 3 more
Genes: CAD
Postweaning performance of calves from Angus, Brahman, and reciprocal-cross cows grazing endophyte-infected tall fescue or common bermudagrass.
Journal of animal science | 1999-01-01 | PMID 10064024
Brown M A, Phillips W A, Brown A H and 3 more
The importance of genetic diversity in livestock populations of the future.
Journal of animal science | 1999-01-01 | PMID 10064028
Notter D R
The effect of cyclopiazonic acid on the development of pale, soft, and exudative pork from pigs of defined malignant hyperthermia genotype.
Journal of animal science | 1999-01-01 | PMID 10064040
Byrem T M, Booren A M, Hill G M and 2 more
Cell surface expression of HLA-E: interaction with human beta2-microglobulin and allelic differences.
European journal of immunology | 1999-02-01 | PMID 10064069
Ulbrecht M, Couturier A, Martinozzi S and 4 more
The resistance against Listeria monocytogenes and the formation of germinal centers depend on a functional death domain of the 55 kDa tumor necrosis factor receptor.
European journal of immunology | 1999-02-01 | PMID 10064074
Plitz T, Huffstadt U, Endres R and 4 more
The W64R variant of the beta3-adrenergic receptor is not associated with type II diabetes or obesity in a large Finnish sample.
Diabetologia | 1999-02-01 | PMID 10064105
Ghosh S, Langefeld C D, Ally D and 10 more
Implications of compound heterozygous insulin receptor mutations in congenital muscle fibre type disproportion myopathy for the receptor kinase activation.
Diabetologia | 1999-02-01 | PMID 10064106
Klein H H, Müller R, Vestergaard H and 1 more
Evaluation of mutation screening by heteroduplex analysis in acute intermittent porphyria: comparison with denaturing gradient gel electrophoresis.
Clinica chimica acta; international journal of clinical chemistry | 1999-01-01 | PMID 10064125
Tchernitchko D, Lamoril J, Puy H and 6 more
Genes: SDS
Studies with lysine N6-hydroxylase. Effect of a mutation in the assumed FAD binding site on coenzyme affinities and on lysine hydroxylating activity.
Biological chemistry | 1999-01-01 | PMID 10064136
Stehr M, Smau L, Singh M and 4 more
Phage display selection of P1 mutants of BPTI directed against five different serine proteinases.
Biological chemistry | 1999-01-01 | PMID 10064144
Kiczak L, Koscielska K, Otlewski J and 2 more
Insights into apolipoprotein B biology from transgenic and gene-targeted mice.
The Journal of nutrition | 1999-02-01 | PMID 10064308
Véniant M M, Kim E, McCormick S and 4 more
The LDL receptor gene family, apolipoprotein B and cholesterol in embryonic development.
The Journal of nutrition | 1999-02-01 | PMID 10064312
Herz J, Farese R V
The role of interindividual variation in human carcinogenesis.
The Journal of nutrition | 1999-02-01 | PMID 10064330
Lai C, Shields P G
Diet, genetic susceptibility and human cancer etiology.
The Journal of nutrition | 1999-02-01 | PMID 10064331
Sinha R, Caporaso N
Does the short variant of the serotonin transporter linked polymorphic region constitute a marker of alcohol dependence?
Alcohol (Fayetteville, N.Y.) | 1999-02-01 | PMID 10064377
Hammoumi S, Payen A, Favre J D and 6 more
Genes: HTT
Blood and urinary levels of ethanol, acetaldehyde, and C4 compounds such as diacetyl, acetoin, and 2,3-butanediol in normal male students after ethanol ingestion.
Alcohol (Fayetteville, N.Y.) | 1999-02-01 | PMID 10064379
Otsuka M, Harada N, Itabashi T and 1 more
Genes: ALDH2
Biomarkers for exposure to ambient air pollution--comparison of carcinogen-DNA adduct levels with other exposure markers and markers for oxidative stress.
Environmental health perspectives | 1999-03-01 | PMID 10064554
Autrup H, Daneshvar B, Dragsted L O and 9 more
Genes: PAH, GSTM1
G169R mutation diminishes the metabolic activity of CYP2D6 in Chinese.
Drug metabolism and disposition: the biological fate of chemicals | 1999-03-01 | PMID 10064570
Wang S L, Lai M D, Huang J D
Car: a cytoplasmic sensor responsible for arginine chemotaxis in the archaeon Halobacterium salinarum.
The EMBO journal | 1999-03-01 | PMID 10064582
Storch K F, Rudolph J, Oesterhelt D
Telomere shortening in mTR-/- embryos is associated with failure to close the neural tube.
The EMBO journal | 1999-03-01 | PMID 10064584
Herrera E, Samper E, Blasco M A
The yeast non-Mendelian factor [ETA+] is a variant of [PSI+], a prion-like form of release factor eRF3.
The EMBO journal | 1999-03-01 | PMID 10064585
Zhou P, Derkatch I L, Uptain S M and 3 more
Respiratory chain strongly oxidizes the CXXC motif of DsbB in the Escherichia coli disulfide bond formation pathway.
The EMBO journal | 1999-03-01 | PMID 10064586
Kobayashi T, Ito K
A region of the Yersinia pseudotuberculosis invasin protein enhances integrin-mediated uptake into mammalian cells and promotes self-association.
The EMBO journal | 1999-03-01 | PMID 10064587
Dersch P, Isberg R R
Apoptosis inhibitory activity of cytoplasmic p21(Cip1/WAF1) in monocytic differentiation.
The EMBO journal | 1999-03-01 | PMID 10064589
Asada M, Yamada T, Ichijo H and 4 more
Genes: PCNA
Autophosphorylation of p110delta phosphoinositide 3-kinase: a new paradigm for the regulation of lipid kinases in vitro and in vivo.
The EMBO journal | 1999-03-01 | PMID 10064595
Vanhaesebroeck B, Higashi K, Raven C and 5 more
The JAK-binding protein JAB inhibits Janus tyrosine kinase activity through binding in the activation loop.
The EMBO journal | 1999-03-01 | PMID 10064597
Yasukawa H, Misawa H, Sakamoto H and 8 more
Genes: JAK2
c-Jun functions as a calcium-regulated transcriptional activator in the absence of JNK/SAPK1 activation.
The EMBO journal | 1999-03-01 | PMID 10064599
Cruzalegui F H, Hardingham G E, Bading H
Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH.
The EMBO journal | 1999-03-01 | PMID 10064601
Coin F, Bergmann E, Tremeau-Bravard A and 1 more
Mutants of Tn3 resolvase which do not require accessory binding sites for recombination activity.
The EMBO journal | 1999-03-01 | PMID 10064606
Arnold P H, Blake D G, Grindley N D and 2 more
Immunomodulatory effects of glycine on LPS-treated monocytes: reduced TNF-alpha production and accelerated IL-10 expression.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology | 1999-03-01 | PMID 10064624
Spittler A, Reissner C M, Oehler R and 7 more
Genes: TNF
Maternal periconceptional alcohol consumption and risk for orofacial clefts.
The Journal of pediatrics | 1999-03-01 | PMID 10064665
Shaw G M, Lammer E J
Foldability of barnase mutants obtained by permutation of modules or secondary structure units.
Journal of molecular biology | 1999-03-12 | PMID 10064693
Tsuji T, Yoshida K, Satoh A and 3 more
p53 mutants without a functional tetramerisation domain are not oncogenic.
Journal of molecular biology | 1999-03-12 | PMID 10064694
Chène P, Bechter E
Inversion of thermosensing property of the bacterial receptor Tar by mutations in the second transmembrane region.
Journal of molecular biology | 1999-03-12 | PMID 10064695
Nishiyama S, Maruyama I N, Homma M and 1 more
Site-directed mutants of RTP of Bacillus subtilis and the mechanism of replication fork arrest.
Journal of molecular biology | 1999-03-12 | PMID 10064700
Duggin I G, Andersen P A, Smith M T and 3 more
A three-way junction and constituent stem-loops as the stimulator for programmed -1 frameshifting in bacterial insertion sequence IS911.
Journal of molecular biology | 1999-03-12 | PMID 10064703
Rettberg C C, Prère M F, Gesteland R F and 2 more
Asymmetric recognition of psoralen interstrand crosslinks by the nucleotide excision repair and the error-prone repair pathways.
Journal of molecular biology | 1999-03-12 | PMID 10064704
Barre F X, Asseline U, Harel-Bellan A
An irregular beta-bulge common to a group of bacterial RNases is an important determinant of stability and function in barnase.
Journal of molecular biology | 1999-03-12 | PMID 10064710
Axe D D, Foster N W, Fersht A R
Structural response to mutation at a protein-protein interface.
Journal of molecular biology | 1999-03-12 | PMID 10064711
Vaughan C K, Buckle A M, Fersht A R
Sulphate ions observed in the 2.12 A structure of a new crystal form of S. cerevisiae phosphoglycerate mutase provide insights into understanding the catalytic mechanism.
Journal of molecular biology | 1999-03-12 | PMID 10064712
Rigden D J, Walter R A, Phillips S E and 1 more
Analysis of the relationship between enzyme activity and its internal motion using nuclear magnetic resonance: 15N relaxation studies of wild-type and mutant lysozyme.
Journal of molecular biology | 1999-03-12 | PMID 10064715
Mine S, Tate S, Ueda T and 2 more
Increased helix and protein stability through the introduction of a new tertiary hydrogen bond.
Journal of molecular biology | 1999-03-12 | PMID 10064718
Peterson R W, Nicholson E M, Thapar R and 2 more
A recurring two-hydrogen-bond motif incorporating a serine or threonine residue is found both at alpha-helical N termini and in other situations.
Journal of molecular biology | 1999-03-12 | PMID 10064721
Wan W Y, Milner-White E J
Transcription factors CCAAT/enhancer-binding protein beta and nuclear factor-Y bind to discrete regulatory elements in the very low density lipoprotein receptor promoter.
Journal of lipid research | 1999-03-01 | PMID 10064725
Kreuter R, Soutar A K, Wade D P
Genes: EBP
Identification of a novel Arg-->Cys mutation in the LDL receptor that contributes to spontaneous hypercholesterolemia in pigs.
Journal of lipid research | 1999-03-01 | PMID 10064736
Grunwald K A, Schueler K, Uelmen P J and 4 more
Mass spectral study of polymorphism of the apolipoproteins of very low density lipoprotein.
Journal of lipid research | 1999-03-01 | PMID 10064743
Bondarenko P V, Cockrill S L, Watkins L K and 2 more
Alterations in spontaneous single unit activity of striatal subdivisions during ontogenesis in mutant dystonic hamsters.
Brain research | 1999-03-13 | PMID 10064814
Gernert M, Richter A, Löscher W
Estrogen, DNA damage and mutations.
Mutation research | 1999-03-08 | PMID 10064854
Roy D, Liehr J G
Polycyclic aromatic hydrocarbons: correlations between DNA adducts and ras oncogene mutations.
Mutation research | 1999-03-08 | PMID 10064858
Ross J A, Nesnow S
Genes: PAH
Intraindividual variations of DNA adduct levels in humans.
Mutation research | 1999-03-08 | PMID 10064865
Eder E
Genes: PAH
Comparison of DNA adduct levels associated with exogenous and endogenous exposures in human pancreas in relation to metabolic genotype.
Mutation research | 1999-03-08 | PMID 10064866
Thompson P A, Seyedi F, Lang N P and 6 more
Genes: NAT1, GSTP1, GSTT1, NQO1
[Prognosis and invasion marker expression of cutaneous melanoma. Metastasis-associated genes (nm23, CD44v3, MMP2].
Orvosi hetilap | 1999-01-31 | PMID 10064977
Döme B, Somlai B, Tamásy A and 4 more
Genes: MMP2
Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure.
Heart (British Cardiac Society) | 1998-12-01 | PMID 10065021
Arbustini E, Fasani R, Morbini P and 13 more
Clinical implications of p53 mutations.
Cellular and molecular life sciences : CMLS | 1999-01-01 | PMID 10065152
Wallace-Brodeur R R, Lowe S W
Expression, isolation and characterization of a mutated human plasminogen kringle 3 with a functional lysine binding site.
Cellular and molecular life sciences : CMLS | 1999-01-01 | PMID 10065160
Bürgin J, Schaller J
[Obstructive sleep apnea syndrome in children].
Nederlands tijdschrift voor geneeskunde | 1998-12-05 | PMID 10065221
Joosten K F, van den Berg S
[Benign symmetrical lipomatosis].
Nederlands tijdschrift voor geneeskunde | 1998-12-19 | PMID 10065244
Houwerzijl E J, van den Akker T W, Gökemeijer J D
Mitochondrial DNA population structure of roan and sable antelope: implications for the translocation and conservation of the species.
Molecular ecology | 1999-02-01 | PMID 10065541
Matthee C A, Robinson T J
Mutability of microsatellites developed for the ant Camponotus consobrinus.
Molecular ecology | 1999-02-01 | PMID 10065542
Crozier R H, Kaufmann B, Carew M E and 1 more
Mitochondrial and ribosomal internal transcribed spacer (ITS2) diversity of the African malaria vector Anopheles funestus.
Molecular ecology | 1999-02-01 | PMID 10065543
Mukabayire O, Boccolini D, Lochouarn L and 2 more
Molecular variation in Leymus species and populations.
Molecular ecology | 1999-02-01 | PMID 10065545
Anamthawat-Jónsson K, Bragason B T, Bödvarsdóttir S K and 1 more
Microsatellite loci in eelgrass Zostera marina reveal marked polymorphism within and among populations.
Molecular ecology | 1999-02-01 | PMID 10065546
Reusch T B, Stam W T, Olsen J L
A preliminary examination of genetic variation in a peripheral population of Blanding's turtle, Emydoidea blandingii.
Molecular ecology | 1999-02-01 | PMID 10065547
Mockford S W, Snyder M, Herman T B
Microgeographic population genetic structure in the northern water snake, Nerodia sipedon sipedon detected using microsatellite DNA loci.
Molecular ecology | 1999-02-01 | PMID 10065548
Prosser M R, Gibbs H L, Weatherhead P J
Mutation in GDP-fucose synthesis genes of Sinorhizobium fredii alters Nod factors and significantly decreases competitiveness to nodulate soybeans.
Molecular plant-microbe interactions : MPMI | 1999-03-01 | PMID 10065558
Lamrabet Y, Bellogín R A, Cubo T and 11 more
Class II major histocompatibility complex typing across the ethnic barrier in pemphigoid gestationis. A study in Mexicans.
International journal of dermatology | 1999-01-01 | PMID 10065610
García-González E, Castro-Llamas J, Karchmer S and 5 more
The role of the viral glycoprotein in HIV-1 persistence.
Immunology letters | 1999-01-01 | PMID 10065629
McKeating J A, Balfe P
Genetic regulation of macrophage activation: understanding the function of Nramp1 (=Ity/Lsh/Bcg).
Immunology letters | 1999-01-01 | PMID 10065630
Blackwell J M, Searle S
Decline in FEV1 related to smoking status in individuals with severe alpha1-antitrypsin deficiency (PiZZ).
The European respiratory journal | 1999-02-01 | PMID 10065663
Piitulainen E, Eriksson S
Engineering a chimeric pyrroloquinoline quinone glucose dehydrogenase: improvement of EDTA tolerance, thermal stability and substrate specificity.
Protein engineering | 1999-01-01 | PMID 10065712
Yoshida H, Kojima K, Witarto A B and 1 more
Polymorphism T-->C (-34 bp) of gene CYP17 promoter in Greek patients with polycystic ovary syndrome.
Fertility and sterility | 1999-03-01 | PMID 10065777
Diamanti-Kandarakis E, Bartzis M I, Zapanti E D and 5 more
Dopamine D3 receptor polymorphism is not associated with the polycystic ovary syndrome.
Fertility and sterility | 1999-03-01 | PMID 10065778
Kahsar-Miller M, Boots L R, Azziz R
The G20210A mutation of the prothrombin gene in patients with previous first episodes of deep-vein thrombosis: prevalence and association with factor V G1691A, methylenetetrahydrofolate reductase C677T and plasma prothrombin levels.
Thrombosis research | 1999-01-01 | PMID 10065893
Cattaneo M, Chantarangkul V, Taioli E and 2 more
Genes: MTHFR
Diversity in expression of glucose-6-phosphate dehydrogenase deficiency in females.
Clinical genetics | 1999-01-01 | PMID 10066026
Abdulrazzaq Y M, Micallef R, Qureshi M and 6 more
Lower extremity counterpart of the Poland syndrome.
Clinical genetics | 1999-01-01 | PMID 10066030
Silengo M, Lerone M, Seri M and 1 more
Comparison of 3 quantitative HCV RNA assays--accuracy of baseline viral load to predict treatment outcome in chronic hepatitis C.
Scandinavian journal of infectious diseases | 1998-01-01 | PMID 10066040
Reichard O, Norkrans G, Frydén A and 3 more
Resistance to human cytomegalovirus infection may be influenced by genetic polymorphisms of the tumour necrosis factor-alpha and interleukin-1 receptor antagonist genes.
Scandinavian journal of infectious diseases | 1998-01-01 | PMID 10066041
Hurme M, Helminen M
Genes: TNF
Hepatitis G virus infection in haemodialysis patients and its relationship with hepatitis C virus RNA positivity.
Scandinavian journal of infectious diseases | 1998-01-01 | PMID 10066042
Hizel N, Tunçbilek S, Boyacioğlu S and 2 more
High-producer allele of tumour necrosis factor-alpha is part of the susceptibility MHC haplotype in severe puumala virus-induced nephropathia epidemica.
Scandinavian journal of infectious diseases | 1998-01-01 | PMID 10066063
Kanerva M, Vaheri A, Mustonen J and 1 more
Genes: TNF
Alleletyping of an oligodendrocyte-type-2 astrocyte lineage derive from a human glioblastoma multiforme.
Journal of neuro-oncology | 1998-12-01 | PMID 10066097
Mao X, Barfoot R, Hamoudi R A and 1 more
Perspectives on craniofacial syndromes.
Acta odontologica Scandinavica | 1998-12-01 | PMID 10066108
Cohen M M, Kreiborg S
The genetic basis of normal and abnormal craniofacial development.
Acta odontologica Scandinavica | 1998-12-01 | PMID 10066109
Thesleff I
Genetic craniofacial aberrations.
Acta odontologica Scandinavica | 1998-12-01 | PMID 10066116
Pirinen S
Mitochondrial diseases in man and mouse.
Science (New York, N.Y.) | 1999-03-05 | PMID 10066162
Wallace D C