A novel mutation detected by temporal temperature gradient gel electrophoresis led to the confirmative prenatal diagnosis of a Hispanic CF family.
Prenatal diagnosis | 2000-10-01 | PMID 11038458
Wong L J, Wang J, Woo M and 2 more
Genes: CFTR
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 1421 of 10600
Adjustment to perceived ovarian cancer risk.
Psycho-oncology | 2000-01-01 | PMID 11038479
Franco K, Belinson J, Casey G and 3 more
[Early T cell development in gene-targeted mutant mice].
Sheng li ke xue jin zhan [Progress in physiology] | 1997-04-01 | PMID 11038702
Yu Q, Chen W F
[A primary study of the association of human leucocyte antigen and osteosarcoma].
Zhonghua zhong liu za zhi [Chinese journal of oncology] | 1997-07-01 | PMID 11038768
Zhang W, Shen C, Cai T
[Insulin receptor substrate-1 and glucose transporter gene polymorphisms in noninsulin-dependent diabetes mellitus].
Zhonghua yi xue za zhi | 1998-09-01 | PMID 11038788
Liu Z, Guan T, Chen Z
[HLA-DRB alleles polymorphism in susceptibility to asthma in Beijing Chinese].
Zhonghua yi xue za zhi | 1998-08-01 | PMID 11038808
Gao J, Lin Y, Qiu C
Association of Peutz-Jeghers-like mucocutaneous pigmentation with breast and gynecologic carcinomas in women.
Medicine | 2000-09-01 | PMID 11039077
Boardman L A, Pittelkow M R, Couch F J and 8 more
New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care.
European journal of pediatrics | 2000-10-01 | PMID 11039124
Schneider-Yin X, Gouya L, Meier-Weinand A and 2 more
Genes: FECH
Cutis tricolor: congenital hyper- and hypopigmented lesions in a background of normal skin with and without associated systemic features: further expansion of the phenotype.
European journal of pediatrics | 2000-10-01 | PMID 11039129
Ruggieri M
Racial differences in adolescents' perceived vulnerability to disease and injury.
Journal of behavioral medicine | 2000-10-01 | PMID 11039155
Ey S, Klesges L M, Patterson S M and 3 more
Prominent basal emissary foramina in syndromic craniosynostosis: correlation with phenotypic and molecular diagnoses.
AJNR. American journal of neuroradiology | 2000-10-01 | PMID 11039354
Robson C D, Mulliken J B, Robertson R L and 6 more
Genes: FGFR3, FGFR2
Protection of privacy by third-party encryption in genetic research in Iceland.
European journal of human genetics : EJHG | 2000-10-01 | PMID 11039572
Gulcher J R, Kristjánsson K, Gudbjartsson H and 1 more
Inferring the impact of linguistic boundaries on population differentiation: application to the Afro-Asiatic-Indo-European case.
European journal of human genetics : EJHG | 2000-10-01 | PMID 11039574
Dupanloup de Ceuninck I, Schneider S, Langaney A and 1 more
Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland.
European journal of human genetics : EJHG | 2000-10-01 | PMID 11039575
Sarantaus L, Huusko P, Eerola H and 23 more
Genes: BRCA1, BRCA2
Hereditary spastic paraplegia caused by mutations in the SPG4 gene.
European journal of human genetics : EJHG | 2000-10-01 | PMID 11039577
Bürger J, Fonknechten N, Hoeltzenbein M and 4 more
A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2.
European journal of human genetics : EJHG | 2000-10-01 | PMID 11039578
Lo Nigro C, Cusano R, Scaranari M and 10 more
Genes: SPG7
NRL S50T mutation and the importance of 'founder effects' in inherited retinal dystrophies.
European journal of human genetics : EJHG | 2000-10-01 | PMID 11039579
Bessant D A, Payne A M, Plant C and 3 more
Genes: NRL
The IL9R region contribution in asthma is supported by genetic association in an isolated population.
European journal of human genetics : EJHG | 2000-10-01 | PMID 11039580
Kauppi P, Laitinen T, Ollikainen V and 3 more
Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family.
European journal of human genetics : EJHG | 2000-10-01 | PMID 11039581
Ginjaar I B, Kneppers A L, v d Meulen J D and 6 more
Genes: NCL
Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3.
European journal of human genetics : EJHG | 2000-10-01 | PMID 11039585
Sangiuolo F, Bruscia E, Capon F and 3 more
Pathogenicity and gene analysis of adenovirus from pigeons with inclusion body hepatitis.
The Journal of veterinary medical science | 2000-09-01 | PMID 11039596
Wang C H, Chang C M
A polymorphism in the alpha2a-adrenoceptor gene and endurance athlete status.
Medicine and science in sports and exercise | 2000-10-01 | PMID 11039642
Wolfarth B, Rivera M A, Oppert J M and 8 more
Genes: ADRB2
Animal models for X-linked sideroblastic anemia.
International journal of hematology | 2000-08-01 | PMID 11039663
Yamamoto M, Nakajima O
No increased risk of thrombosis in heterozygous congenital dysplasminogenemia.
International journal of hematology | 2000-08-01 | PMID 11039677
Shigekiyo T, Kanazuka M, Aihara K and 6 more
Geographical invariance and the strong-migration limit in subdivided populations.
Journal of mathematical biology | 2000-08-01 | PMID 11039694
Nagylaki T
Human genetic insights into skeletal development, growth, and homeostasis.
Clinical orthopaedics and related research | 2000-10-01 | PMID 11039750
Warman M L
Hematopoietic stem cells.
Clinical orthopaedics and related research | 2000-10-01 | PMID 11039756
Smith C, Storms B
Potential of gene therapy for treating osteogenesis imperfecta.
Clinical orthopaedics and related research | 2000-10-01 | PMID 11039761
Niyibizi C, Smith P, Mi Z and 2 more
Role of the cAMP and MAPK pathways in the transformation of mouse 3T3 fibroblasts by a TSHR gene constitutively activated by point mutation.
Oncogene | 2000-10-05 | PMID 11039907
Du Villard J A, Wicker R, Crespo P and 5 more
Genes: TSHR
Rapid evolution of reproductive isolation in the wild: evidence from introduced salmon.
Science (New York, N.Y.) | 2000-10-20 | PMID 11039932
Hendry A P, Wenburg J K, Bentzen P and 2 more
Natural selection and the reinforcement of mate recognition.
Science (New York, N.Y.) | 2000-10-20 | PMID 11039933
Higgie M, Chenoweth S, Blows M W
Specific mutations induced by triplex-forming oligonucleotides in mice.
Science (New York, N.Y.) | 2000-10-20 | PMID 11039937
Vasquez K M, Narayanan L, Glazer P M
Haemochromatosis gene mutations in idiopathic dilated cardiomyopathy.
Heart (British Cardiac Society) | 2000-11-01 | PMID 11040018
Mahon N G, Coonar A S, Jeffery S and 7 more
Genes: HFE
Polyanionic (i.e., polysulfonate) dendrimers can inhibit the replication of human immunodeficiency virus by interfering with both virus adsorption and later steps (reverse transcriptase/integrase) in the virus replicative cycle.
Molecular pharmacology | 2000-11-01 | PMID 11040059
Witvrouw M, Fikkert V, Pluymers W and 8 more
Localization of the sites mediating desensitization of the beta(2)-adrenergic receptor by the GRK pathway.
Molecular pharmacology | 2000-11-01 | PMID 11040066
Seibold A, Williams B, Huang Z F and 4 more
Polymorphic glutathione S-transferase M1 is a risk factor of primary open-angle glaucoma among Estonians.
Experimental eye research | 2000-11-01 | PMID 11040079
Juronen E, Tasa G, Veromann S and 7 more
Genes: GSTM1, GSTM3, GSTP1, GSTT1
Activation of the Lck tyrosine protein kinase by the Herpesvirus saimiri tip protein involves two binding interactions.
Virology | 2000-10-25 | PMID 11040125
Hartley D A, Amdjadi K, Hurley T R and 3 more
Cucumber mosaic virus mutants with altered physical properties and defective in aphid vector transmission.
Virology | 2000-10-25 | PMID 11040130
Ng J C, Liu S, Perry K L
Genetic factors determine extent of bone loss in inflammatory bowel disease.
Gastroenterology | 2000-10-01 | PMID 11040178
Schulte C M, Dignass A U, Goebell H and 2 more
E-cadherin and adenomatous polyposis coli mutations are synergistic in intestinal tumor initiation in mice.
Gastroenterology | 2000-10-01 | PMID 11040191
Smits R, Ruiz P, Diaz-Cano S and 6 more
Genes: APC
Differential HFE allele expression in hemochromatosis heterozygotes.
Gastroenterology | 2000-10-01 | PMID 11040194
Rosmorduc O, Poupon R, Nion I and 4 more
Genes: HFE
The alpha subunit of E. coli RNA polymerase activates RNA binding by NusA.
Genes & development | 2000-10-15 | PMID 11040219
Mah T F, Kuznedelov K, Mushegian A and 2 more
Possible locus on chromosome 18q influencing postural systolic blood pressure changes.
Hypertension (Dallas, Tex. : 1979) | 2000-10-01 | PMID 11040221
Pankow J S, Rose K M, Oberman A and 5 more
Evidence for a gene influencing blood pressure on chromosome 17. Genome scan linkage results for longitudinal blood pressure phenotypes in subjects from the framingham heart study.
Hypertension (Dallas, Tex. : 1979) | 2000-10-01 | PMID 11040222
Levy D, DeStefano A L, Larson M G and 5 more
Varying intertrial interval reveals temporally defined memory deficits and enhancements in NTAN1-deficient mice.
Learning & memory (Cold Spring Harbor, N.Y.) | 2000-01-01 | PMID 11040259
Balogh S A, Kwon Y T, Denenberg V H
Genes: NTAN1, ATE1, UBR1
Dynamic rearrangement within the Antheraea pernyi silk fibroin gene is associated with four types of repetitive units.
Journal of molecular evolution | 2000-10-01 | PMID 11040284
Sezutsu H, Yukuhiro K
Multiple lineages of the mitochondrial gene NADH dehydrogenase subunit 1 (ND1) in parasitic helminths: implications for molecular evolutionary studies of facultatively anaerobic eukaryotes.
Journal of molecular evolution | 2000-10-01 | PMID 11040285
van Herwerden L, Blair D, Agatsuma T
Are noncoding sequences of Rickettsia prowazekii remnants of "neutralized" genes?
Journal of molecular evolution | 2000-10-01 | PMID 11040286
Holste D, Weiss O, Grosse I and 1 more
Biglycan-like extracellular matrix genes of agnathans and teleosts.
Journal of molecular evolution | 2000-10-01 | PMID 11040287
Shintani S, Sato A, Toyosawa S and 2 more
Rapid genotyping of newborn gene mutant mice.
Journal of neuroscience methods | 2000-07-31 | PMID 11040374
Henneberger C, Grantyn R, Rothe T
The efficiency of genetic analysis of DNA from aged siblings to detect chromosomal regions implicated in longevity.
Mechanisms of ageing and development | 2000-10-20 | PMID 11040399
Nemani M, Sahbatou M, Blanché H and 2 more
Genes: ACE, NPL
Structural variation in the 16S-23S rRNA intergenic spacers of Vibrio parahaemolyticus.
FEMS microbiology letters | 2000-11-01 | PMID 11040431
Maeda T, Takada N, Furushita M and 1 more
Zinc uptake, oxidative stress and the FNR-like proteins of Lactococcus lactis.
FEMS microbiology letters | 2000-11-01 | PMID 11040433
Scott C, Rawsthorne H, Upadhyay M and 4 more
Some safety aspects of Salmonella vaccines for poultry: in vivo study of the genetic stability of three Salmonella typhimurium live vaccines.
FEMS microbiology letters | 2000-11-01 | PMID 11040436
Barbezange C, Ermel G, Ragimbeau C and 2 more
Variation of the mexT gene, a regulator of the MexEF-oprN efflux pump expression in wild-type strains of Pseudomonas aeruginosa.
FEMS microbiology letters | 2000-11-01 | PMID 11040437
Maseda H, Saito K, Nakajima A and 1 more
Genetic variations among Mycoplasma bovis strains isolated from Danish cattle.
FEMS microbiology letters | 2000-11-01 | PMID 11040438
Kusiluka L J, Kokotovic B, Ojeniyi B and 2 more
DMSO and glycerol reduce bacterial death induced by expression of truncated N-terminal huntingtin with expanded polyglutamine tracts.
Biochimica et biophysica acta | 2000-10-18 | PMID 11040449
Nagao Y, Ishiguro H, Nukina N
Genes: SDS
The 18q21 region in colorectal and pancreatic cancer: independent loss of DCC and DPC4 expression.
Biochimica et biophysica acta | 2000-10-18 | PMID 11040453
Barberá V M, Martín M, Mariñoso L and 4 more
Genes: DCC
The p53 gene in patients under the age of 40 with gastric cancer: mutation rates are low but are associated with a cardiac location.
Molecular pathology : MP | 2000-08-01 | PMID 11040944
Rugge M, Shiao Y H, Busatto G and 8 more
Screening of the entire coding region of p53 in low grade lymphoproliferative disorders.
Molecular pathology : MP | 2000-08-01 | PMID 11040946
Bromidge T J, Howe D J
The biochemistry of aging.
Advances in clinical chemistry | 2000-01-01 | PMID 11040957
Knight J A
Heart rate as a predictor of future blood pressure in schoolchildren.
American journal of hypertension | 2000-10-01 | PMID 11041162
Zhou L, Ambrosius W T, Newman S A and 2 more
Genes: ACE
Etiology and pathophysiology of stroke as a complex trait.
American journal of hypertension | 2000-10-01 | PMID 11041170
Rubattu S, Giliberti R, Volpe M
The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation.
Pigment cell research | 2000-10-01 | PMID 11041207
Oetting W S
Genes: TYR
Mutant alleles at the brown locus encoding tyrosinase-related protein-1 (TRP-1) affect proliferation of mouse melanocytes in culture.
Pigment cell research | 2000-10-01 | PMID 11041210
Sarangarajan R, Zhao Y, Babcock G and 3 more
High throughput detection of drug-metabolizing enzyme polymorphisms by allele-specific fluorogenic 5' nuclease chain reaction assay.
Biological & pharmaceutical bulletin | 2000-10-01 | PMID 11041238
Hiratsuka M, Agatsuma Y, Omori F and 4 more
Genes: ALDH2, NAT2, TPMT
Detection of kinases that phosphorylate 14-3-3 binding sites of Raf-1 using in situ gel kinase assay.
Biological & pharmaceutical bulletin | 2000-10-01 | PMID 11041243
Kinuya M, Takishima K, Mamiya G
Genes: EGF
Paraoxonase polymorphisms, pesticide exposure and Parkinson's disease in a Caucasian population.
Journal of neural transmission (Vienna, Austria : 1996) | 2000-01-01 | PMID 11041276
Taylor M C, Le Couteur D G, Mellick G D and 1 more
Genes: PON1, PON2
No association between the alpha2-macroglobulin (A2M) deletion and Alzheimer's disease, and no change in A2M mRNA, protein, or protein expression.
Journal of neural transmission (Vienna, Austria : 1996) | 2000-01-01 | PMID 11041282
Blennow K, Ricksten A, Prince J A and 17 more
No evidence for an association between the Glu298Asp polymorphism of the NOS3 gene and Alzheimer's disease.
Journal of neural transmission (Vienna, Austria : 1996) | 2000-01-01 | PMID 11041283
Kunugi H, Akahane A, Ueki A and 7 more
Genes: NOS3
Long-term therapeutic drug monitoring of clozapine and metabolites in psychiatric in- and outpatients.
Psychopharmacology | 2000-09-01 | PMID 11041319
Dettling M, Sachse C, Brockmöller J and 6 more
Incidence of CSF abnormalities in siblings of multiple sclerosis patients and unrelated controls.
Journal of neurology | 2000-08-01 | PMID 11041329
Haghighi S, Andersen O, Rosengren L and 3 more
Deletion of the hmc operon of Desulfovibrio vulgaris subsp. vulgaris Hildenborough hampers hydrogen metabolism and low-redox-potential niche establishment.
Archives of microbiology | 2000-09-01 | PMID 11041344
Dolla A, Pohorelic B K, Voordouw J K and 1 more
Mutations of gonadotropins and gonadotropin receptors: elucidating the physiology and pathophysiology of pituitary-gonadal function.
Endocrine reviews | 2000-10-01 | PMID 11041448
Themmen APN, Huhtaniemi I T
No evidence of thyrotropin receptor and G(s alpha) gene mutation in high iodine uptake thyroid carcinoma.
Thyroid : official journal of the American Thyroid Association | 2000-09-01 | PMID 11041453
Bourasseau I, Savagner F, Rodien P and 6 more
Limited genetic susceptibility to severe Graves' ophthalmopathy: no role for CTLA-4 but evidence for an environmental etiology.
Thyroid : official journal of the American Thyroid Association | 2000-09-01 | PMID 11041456
Villanueva R, Inzerillo A M, Tomer Y and 9 more
Genes: TNF, TSHR
Hypothyroidism and aging: the Rosses' survey.
Thyroid : official journal of the American Thyroid Association | 2000-09-01 | PMID 11041461
Bonar B D, McColgan B, Smith D F and 4 more
Homoiogenetic regulation through the ectoderm on localized expression of the hatching gland phenotype in the head area of Xenopus embryos.
Development, growth & differentiation | 2000-10-01 | PMID 11041487
Tamori Y, Mita K, Katagiri C
Effects of rat Axin domains on axis formation in Xenopus embryos.
Development, growth & differentiation | 2000-10-01 | PMID 11041490
Fukui A, Kishida S, Kikuchi A and 1 more
Genes: APC
A novel role of differentiation-inducing factor-1 in Dictyostelium development, assessed by the restoration of a developmental defect in a mutant lacking mitogen-activated protein kinase ERK2.
Development, growth & differentiation | 2000-10-01 | PMID 11041494
Kuwayama H, Oyama M, Kubohara Y and 1 more
Achondroplastic dog breeds have no mutations in the transmembrane domain of the FGFR-3 gene.
Canadian journal of veterinary research = Revue canadienne de recherche veterinaire | 2000-10-01 | PMID 11041504
Martínez S, Valdés J, Alonso R A
Origin and persistence of the mitochondrial genome.
Human reproduction (Oxford, England) | 2000-07-01 | PMID 11041508
Jansen R P
Genetic defects causing mitochondrial respiratory chain disorders and disease.
Human reproduction (Oxford, England) | 2000-07-01 | PMID 11041511
Christodoulou J
In-vitro genetic modification of mitochondrial function.
Human reproduction (Oxford, England) | 2000-07-01 | PMID 11041515
Taylor R W, Chinnery P F, Turnbull D M and 1 more
Evolutionary origin and consequences of uniparental mitochondrial inheritance.
Human reproduction (Oxford, England) | 2000-07-01 | PMID 11041518
Hoekstra R F
Mitochondrial DNA segregation in the developing embryo.
Human reproduction (Oxford, England) | 2000-07-01 | PMID 11041528
Shoubridge E A
Transmission of the human mitochondrial genome.
Human reproduction (Oxford, England) | 2000-07-01 | PMID 11041529
Howell N, Chinnery P F, Ghosh S S and 2 more
Influence of the axial ligands on the spectral properties of P700 of photosystem I: a study of site-directed mutants.
Biochemistry | 2000-10-24 | PMID 11041867
Krabben L, Schlodder E, Jordan R and 5 more
Growth hormone deficiency in one of two siblings with Fanconi's anaemia complementation group FA-D.
Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society | 2000-10-01 | PMID 11042025
Schoof E, Beck J D, Joenje H and 1 more
Genes: SDS
Distinct phenotypic expression associated with a new hyperunstable alpha globin variant (Hb heraklion, alpha1cd37(C2)Pro>0): comparison to other alpha-thalassemic hemoglobinopathies.
Blood cells, molecules & diseases | 2000-08-01 | PMID 11042028
Traeger-Synodinos J, Papassotiriou I, Metaxotou-Mavrommati A and 3 more
Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: implications for prognosis and genetic counseling.
Blood cells, molecules & diseases | 2000-08-01 | PMID 11042032
Filocamo M, Bonuccelli G, Mazzotti R and 2 more
Hemoglobin C in transgenic mice: effect of HbC expression from founders to full mouse globin knockouts.
Blood cells, molecules & diseases | 2000-08-01 | PMID 11042035
Fabry M E, Romero J R, Suzuka S M and 7 more
Linkage to Gaucher mutations in the Ashkenazi population: effect of drift on decay of linkage disequilibrium and evidence for heterozygote selection.
Blood cells, molecules & diseases | 2000-08-01 | PMID 11042036
Boas F E
Glucose-6-phosphate dehydrogenase mutations and haplotypes in Mexican Mestizos.
Blood cells, molecules & diseases | 2000-08-01 | PMID 11042039
Arámbula E, Aguilar L J C, Vaca G
Ethnic differences in human flavin-containing monooxygenase 2 (FMO2) polymorphisms: detection of expressed protein in African-Americans.
Toxicology and applied pharmacology | 2000-11-01 | PMID 11042094
Whetstine J R, Yueh M F, McCarver D G and 8 more
Genes: FMO2
The cytonuclear effects of facultative apomixis. I. Disequilibrium dynamics in diploid populations.
Theoretical population biology | 2000-09-01 | PMID 11042103
Overath R D, Asmussen M A
The cytonuclear effects of facultative apomixis. II. Definitions and dynamics of disequilibria in tetraploid populations.
Theoretical population biology | 2000-09-01 | PMID 11042104
Overath R D, Asmussen M A
Potential gene conversion and source genes for recently integrated Alu elements.
Genome research | 2000-10-01 | PMID 11042148
Roy A M, Carroll M L, Nguyen S V and 5 more
Genes: BRCA2, FGFR2
Reading between the LINEs: human genomic variation induced by LINE-1 retrotransposition.
Genome research | 2000-10-01 | PMID 11042149
Sheen F M, Sherry S T, Risch G M and 5 more
Sequence diversity and large-scale typing of SNPs in the human apolipoprotein E gene.
Genome research | 2000-10-01 | PMID 11042151
Nickerson D A, Taylor S L, Fullerton S M and 6 more
Genes: APOE