Sequence variation of new alleles at the short tandem repeat D19S253 locus.
Journal of forensic sciences | 2000-07-01 | PMID 10914603
Brito R M, Ribeiro T, Viriato L 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 1372 of 10600
Genetic basis of acanthosis nigricans in Mexican Americans and its association with phenotypes related to type 2 diabetes.
Human genetics | 2000-05-01 | PMID 10914675
Burke J P, Duggirala R, Hale D E and 2 more
Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.
Human genetics | 2000-05-01 | PMID 10914676
Ishibashi F, Nunoi H, Endo F and 2 more
The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody disease.
Human genetics | 2000-05-01 | PMID 10914677
Odermatt A, Barton K, Khanna V K and 5 more
Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies.
Human genetics | 2000-05-01 | PMID 10914678
Shevchenko Y O, Compton J G, Toro J R and 2 more
Genes: TGM1
A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract.
Human genetics | 2000-05-01 | PMID 10914683
Ren Z, Li A, Shastry B S and 6 more
Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic.
Human genetics | 2000-05-01 | PMID 10914684
Imbach T, Grünewald S, Schenk B and 9 more
Genes: ALG6
Association of the low-density lipoprotein receptor gene with obesity in Native American populations.
Human genetics | 2000-05-01 | PMID 10914685
Mattevi V S, Coimbra C E, Santos R V and 2 more
Genes: LDLR
Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13.
Human genetics | 2000-05-01 | PMID 10914687
Kelley M J, Jawien W, Lin A and 4 more
Analysis of genetic polymorphisms in the transforming growth factor-beta1 gene and the risk of Alzheimer's disease.
Human genetics | 2000-05-01 | PMID 10914688
Luedecking E K, DeKosky S T, Mehdi H and 2 more
Molecular changes in the bronchial epithelium of patients with small cell lung cancer.
Clinical cancer research : an official journal of the American Association for Cancer Research | 2000-07-01 | PMID 10914700
Wistuba I I, Berry J, Behrens C and 6 more
Detection of minimal residual cancer to investigate why oral tumors recur despite seemingly adequate treatment.
Clinical cancer research : an official journal of the American Association for Cancer Research | 2000-07-01 | PMID 10914716
Partridge M, Li S R, Pateromichelakis S and 5 more
Mutations of the INI1 rhabdoid tumor suppressor gene in medulloblastomas and primitive neuroectodermal tumors of the central nervous system.
Clinical cancer research : an official journal of the American Association for Cancer Research | 2000-07-01 | PMID 10914721
Biegel J A, Fogelgren B, Zhou J Y and 6 more
Human leukocyte antigen class I allelic and haplotype loss in squamous cell carcinoma of the head and neck: clinical and immunogenetic consequences.
Clinical cancer research : an official journal of the American Association for Cancer Research | 2000-07-01 | PMID 10914726
Grandis J R, Falkner D M, Melhem M F and 3 more
Microsatellite alterations on human chromosome 11 in in situ and invasive breast cancer: a microdissection microsatellite analysis and correlation with p53, ER (estrogen receptor), and PR (progesterone receptor) protein immunoreactivity.
Journal of surgical oncology | 2000-06-01 | PMID 10914818
Shen K L, Yang L S, Hsieh H F and 4 more
Genetic association between rheumatoid arthritis and estrogen receptor microsatellite polymorphism.
The Journal of rheumatology | 2000-07-01 | PMID 10914844
Takagi H, Ishiguro N, Iwata H and 1 more
Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever.
The Journal of rheumatology | 2000-07-01 | PMID 10914855
Shinar Y, Livneh A, Langevitz P and 6 more
Immunophenotypic discrepancies between granulocytic and erythroid lineages in peripheral blood of patients with paroxysmal nocturnal haemoglobinuria.
European journal of haematology | 2000-07-01 | PMID 10914934
Pakdeesuwan K, Wanachiwanawin W, Siripanyaphinyo U and 3 more
Genes: GPI
Prognostic value of p53 gene mutations and the product expression in de novo acute myeloid leukemia.
European journal of haematology | 2000-07-01 | PMID 10914936
Nakano Y, Naoe T, Kiyoi H and 14 more
Neisseria meningitidis: evolution of penicillin resistance and phenotype in a children's hospital in Barcelona, Spain.
Acta paediatrica (Oslo, Norway : 1992) | 2000-06-01 | PMID 10914958
Latorre C, Gené A, Juncosa T and 2 more
Idiopathic hyperaldosteronism: analysis of aldosterone synthase gene.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie | 2000-06-01 | PMID 10914997
Miyamori I, Inaba S, Hatakeyama H and 2 more
Absence of somatic RET gene mutation in sporadic parathyroid tumors and hyperplasia secondary to uremia, and absence of somatic Men1 gene mutation in MEN2A-associated hyperplasia.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie | 2000-06-01 | PMID 10915003
Uchino S, Noguchi S, Nagatomo M and 8 more
Genes: MEN1, RET
The protein kinase-interacting domain in the hepatitis C virus envelope glycoprotein-2 gene is highly conserved in genotype 1-infected patients treated with interferon.
The Journal of infectious diseases | 2000-08-01 | PMID 10915068
Polyak S J, Nousbaum J B, Larson A M and 3 more
Detection of a major gene predisposing to human T lymphotropic virus type I infection in children among an endemic population of African origin.
The Journal of infectious diseases | 2000-08-01 | PMID 10915069
Plancoulaine S, Gessain A, Joubert M and 5 more
The CCR5Delta32 allele slows disease progression of human immunodeficiency virus-1-infected children receiving antiretroviral treatment.
The Journal of infectious diseases | 2000-08-01 | PMID 10915070
Barroga C F, Raskino C, Fangon M C and 4 more
Correlation between human immunodeficiency virus genotypic resistance and virologic response in patients receiving nelfinavir monotherapy or nelfinavir with lamivudine and zidovudine.
The Journal of infectious diseases | 2000-08-01 | PMID 10915071
Atkinson B, Isaacson J, Knowles M and 2 more
C3 as substrate for adhesion of Streptococcus pneumoniae.
The Journal of infectious diseases | 2000-08-01 | PMID 10915081
Smith B L, Hostetter M K
Selection of antibiotic-resistant bacterial mutants: allelic diversity among fluoroquinolone-resistant mutations.
The Journal of infectious diseases | 2000-08-01 | PMID 10915083
Zhou J, Dong Y, Zhao X and 6 more
Pneumocystis carinii mutations are associated with duration of sulfa or sulfone prophylaxis exposure in AIDS patients.
The Journal of infectious diseases | 2000-08-01 | PMID 10915088
Kazanjian P, Armstrong W, Hossler P A and 6 more
Genes: DHPS
A Leishmania homologue of receptors for activated C-kinase (LACK) induces both interferon-gamma and interleukin-10 in natural killer cells of healthy blood donors.
The Journal of infectious diseases | 2000-08-01 | PMID 10915091
Maasho K, Satti I, Nylén S and 3 more
Sequence variations in the genes encoding dihydropteroate synthase and dihydrofolate reductase and clinical response to sulfadoxine-pyrimethamine in patients with acute uncomplicated falciparum malaria.
The Journal of infectious diseases | 2000-08-01 | PMID 10915101
Basco L K, Tahar R, Keundjian A and 1 more
Genes: DHFR, DHPS
Formation and stability of the bacteriophage lambda replication complexes in UV-irradiated Escherichia coli.
Current microbiology | 2000-09-01 | PMID 10915199
Wegrzyn A, Wegrzyn G
Splenocytes cultured in low concentrations of IL-2 generate NK cell specificities toward syngenic and allogenic targets.
Cellular immunology | 2000-07-10 | PMID 10915561
Nissen M H, Jeppesen M, Claesson M H
Enhanced replication contributes to enrichment of hepatitis B virus with a deletion in the core gene.
Virology | 2000-08-01 | PMID 10915599
Günther S, Piwon N, Jung A and 3 more
Rare etiology of autosomal recessive disease in a child with noncarrier parents.
American journal of human genetics | 2000-09-01 | PMID 10915611
Lebo R V, Shapiro L R, Fenerci E Y and 4 more
Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes.
American journal of human genetics | 2000-09-01 | PMID 10915612
Gleeson J G, Minnerath S, Kuzniecky R I and 4 more
Evidence for the prion hypothesis: induction of the yeast [PSI+] factor by in vitro- converted Sup35 protein.
Science (New York, N.Y.) | 2000-07-28 | PMID 10915616
Sparrer H E, Santoso A, Szoka F C and 1 more
Dependence of stem cell fate in Arabidopsis on a feedback loop regulated by CLV3 activity.
Science (New York, N.Y.) | 2000-07-28 | PMID 10915624
Brand U, Fletcher J C, Hobe M and 2 more
A structural model of transcription elongation.
Science (New York, N.Y.) | 2000-07-28 | PMID 10915625
Korzheva N, Mustaev A, Kozlov M and 4 more
The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells.
Human molecular genetics | 2000-07-22 | PMID 10915760
Anderson D W, Probst F J, Belyantseva I A and 8 more
CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2).
Human molecular genetics | 2000-07-22 | PMID 10915763
Hayes S, Turecki G, Brisebois K and 6 more
Genes: RAI1
Fragile X CGG repeat structures among African-Americans: identification of a novel factor responsible for repeat instability.
Human molecular genetics | 2000-07-22 | PMID 10915764
Crawford D C, Zhang F, Wilson B and 2 more
Genes: FMR1
Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations.
Human molecular genetics | 2000-07-22 | PMID 10915765
Nissim-Rafinia M, Chiba-Falek O, Sharon G and 2 more
Genes: CFTR
A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity.
Human molecular genetics | 2000-07-22 | PMID 10915767
Guan M X, Fischel-Ghodsian N, Attardi G
Mice with a targeted disruption of the Fanconi anemia homolog Fanca.
Human molecular genetics | 2000-07-22 | PMID 10915769
Cheng N C, van de Vrugt H J, van der Valk M A and 6 more
Genes: FANCA
Expression and imprinting of MAGEL2 suggest a role in Prader-willi syndrome and the homologous murine imprinting phenotype.
Human molecular genetics | 2000-07-22 | PMID 10915770
Lee S, Kozlov S, Hernandez L and 4 more
Genes: MAGEL2, NDN
Sequence conservation and variability of imprinting in the Beckwith-Wiedemann syndrome gene cluster in human and mouse.
Human molecular genetics | 2000-07-22 | PMID 10915772
Paulsen M, El-Maarri O, Engemann S and 6 more
Genes: TSSC4
Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome.
Human molecular genetics | 2000-07-22 | PMID 10915774
Chrast R, Scott H S, Madani R and 6 more
Genes: SIM2
Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy.
Human molecular genetics | 2000-07-22 | PMID 10915775
Isaacs A M, Davies K E, Hunter A J and 20 more
Flavohemoglobin Hmp affords inducible protection for Escherichia coli respiration, catalyzed by cytochromes bo' or bd, from nitric oxide.
The Journal of biological chemistry | 2000-11-17 | PMID 10915782
Stevanin T M, Ioannidis N, Mills C E and 3 more
Proximal promoter of the surfactant protein D gene: regulatory roles of AP-1, forkhead box, and GT box binding proteins.
The Journal of biological chemistry | 2000-10-06 | PMID 10915785
He Y, Crouch E C, Rust K and 2 more
Identification of a common protein association region in the neuronal Cdk5 activator.
The Journal of biological chemistry | 2000-10-13 | PMID 10915792
Wang X, Ching Y P, Lam W H and 3 more
The postmitotic growth suppressor necdin interacts with a calcium-binding protein (NEFA) in neuronal cytoplasm.
The Journal of biological chemistry | 2000-10-13 | PMID 10915798
Taniguchi N, Taniura H, Niinobe M and 4 more
Mutational analysis and molecular modelling of the antagonist SR 144528 binding site on the human cannabinoid CB(2) receptor.
European journal of pharmacology | 2000-07-28 | PMID 10915832
Gouldson P, Calandra B, Legoux P and 6 more
Detection of structural gene mutations and promoter polymorphisms in the mannan-binding lectin (MBL) gene by polymerase chain reaction with sequence-specific primers.
Journal of immunological methods | 2000-07-31 | PMID 10915847
Steffensen R, Thiel S, Varming K and 2 more
Mismatch repair proteins and mitotic genome stability.
Mutation research | 2000-06-30 | PMID 10915870
Harfe B D, Jinks-Robertson S
DNA damage-induced mutation: tolerance via translesion synthesis.
Mutation research | 2000-06-30 | PMID 10915871
Kunz B A, Straffon A F, Vonarx E J
Dopaminergic phenotype of hNT cells in vitro.
Brain research. Developmental brain research | 2000-07-30 | PMID 10915908
Zigova T, Barroso L F, Willing A E and 4 more
Angiotensin I-converting enzyme gene insertion/deletion and angiotensinogen M235T polymorphisms: risk of chronic renal failure. End-Stage Renal Disease Study Group.
Kidney international | 2000-08-01 | PMID 10916074
Gumprecht J, Zychma M J, Grzeszczak W and 1 more
Genes: ACE
Infection of mesangial cells with HIV and SIV: identification of GPR1 as a coreceptor.
Kidney international | 2000-08-01 | PMID 10916084
Tokizawa S, Shimizu N, Hui-Yu L and 4 more
Impact of interleukin-1 receptor antagonist and tumor necrosis factor-alpha gene polymorphism on IgA nephropathy.
Kidney international | 2000-08-01 | PMID 10916103
Shu K H, Lee S H, Cheng C H and 2 more
Genes: TNF
Hyperhomocysteinemia in hemodialysis patients: effects of 12-month supplementation with hydrosoluble vitamins.
Kidney international | 2000-08-01 | PMID 10916110
Tremblay R, Bonnardeaux A, Geadah D and 4 more
Genes: MTHFR
Of maize and men: reproductive control and the threat to genetic diversity.
The Journal of medicine and philosophy | 2000-08-01 | PMID 10916178
Resnik D B
Genes: GDA
Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene.
Ophthalmic genetics | 2000-06-01 | PMID 10916181
Eksandh L B, Ponjavic V B, Munroe P B and 5 more
Genes: ERG, CLN3
Visual phenotype in patients with Arg41Gln and ala196+1bp mutations in the CRX gene.
Ophthalmic genetics | 2000-06-01 | PMID 10916183
Tzekov R T, Sohocki M M, Daiger S P and 1 more
Genes: CRX, ERG
An unusual central retinal dystrophy associated with ichthyosis vulgaris.
Ophthalmic genetics | 2000-06-01 | PMID 10916184
Saatci O A, Ozbek Z, Köse S and 2 more
Mutations in the third exon of the MYOC gene in spanish patients with primary open angle glaucoma.
Ophthalmic genetics | 2000-06-01 | PMID 10916185
Vázquez C M, Herrero O M, Bastús B M and 1 more
Genes: MYOC
Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2).
Ophthalmic genetics | 2000-06-01 | PMID 10916187
Beneyto M M, Cuevas J M, Millán J M and 13 more
[DNA diagnosis in Czech patients with tuberous sclerosis].
Casopis lekaru ceskych | 2000-04-12 | PMID 10916206
Vrtĕl R, Santavá A, Santavý J and 2 more
Genes: TSC1, TSC2
Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.
Journal of investigative medicine : the official publication of the American Federation for Clinical Research | 2000-07-01 | PMID 10916280
Ashton-Prolla P, Tong B, Shabbeer J and 3 more
Lack of association between the -308 polymorphism of the tumor necrosis factor-alpha gene and the insulin resistance syndrome.
Journal of investigative medicine : the official publication of the American Federation for Clinical Research | 2000-07-01 | PMID 10916281
da Sliva B, Gapstur S M, Achenbach Y H and 4 more
Genes: TNF
Identification of Culex vishnui subgroup (Diptera: Culicidae) mosquitoes from the Ryukyu Archipelago, Japan: development of a species-diagnostic polymerase chain reaction assay based on sequence variation in ribosomal DNA spacers.
Journal of medical entomology | 2000-07-01 | PMID 10916296
Toma T, Miyagi I, Crabtree M B and 1 more
Genetics in practice: 2. Colon and breast cancer.
Hospital practice (1995) | 2000-07-15 | PMID 10916503
Stehney M A
Type 1 diabetes and prediabetic state in a monozygotic triplet.
Acta geneticae medicae et gemellologiae | 1998-01-01 | PMID 10916559
Krokowski M, Abel M, Teodorczyk A and 4 more
Neurodevelopmental dysfunction and specific learning disabilities in school-aged twins.
Acta geneticae medicae et gemellologiae | 1998-01-01 | PMID 10916565
Garanty-Bogacka B, Wieczorek W, Syrenicz M
Language-based cognitive functioning in parents of offspring with ADHD comorbid for Tourette syndrome or learning disabilities.
Developmental neuropsychology | 2000-01-01 | PMID 10916577
Casey M B, Cohen M, Schuerholz L J and 2 more
Biochemical and genetic basis of red cell enzyme deficiencies.
Bailliere's best practice & research. Clinical haematology | 2000-03-01 | PMID 10916675
Jacobasch G
Chronic non-spherocytic haemolytic disorders associated with glucose-6-phosphate dehydrogenase variants.
Bailliere's best practice & research. Clinical haematology | 2000-03-01 | PMID 10916677
Fiorelli G, Martinez di Montemuros F, Cappellini M D
Red cell pyruvate kinase deficiency: from genetics to clinical manifestations.
Bailliere's best practice & research. Clinical haematology | 2000-03-01 | PMID 10916678
Zanella A, Bianchi P
Hexokinase: gene structure and mutations.
Bailliere's best practice & research. Clinical haematology | 2000-03-01 | PMID 10916679
Kanno H
Glucose-6-phosphate isomerase deficiency.
Bailliere's best practice & research. Clinical haematology | 2000-03-01 | PMID 10916680
Kugler W, Lakomek M
Genes: GPI
Triosephosphate isomerase deficiency: historical perspectives and molecular aspects.
Bailliere's best practice & research. Clinical haematology | 2000-03-01 | PMID 10916682
Schneider A S
Other erythrocyte enzyme deficiencies associated with non-haematological symptoms: phosphoglycerate kinase and phosphofructokinase deficiency.
Bailliere's best practice & research. Clinical haematology | 2000-03-01 | PMID 10916683
Fujii H, Miwa S
Migraine as a complex disease: heterogeneity, comorbidity and genotype-phenotype interactions.
Functional neurology | 2000-01-01 | PMID 10916720
Nappi G, Costa A, Tassorelli C and 1 more
Anti-tumor activity of K1-LysPE38QQR, an immunotoxin targeting mesothelin, a cell-surface antigen overexpressed in ovarian cancer and malignant mesothelioma.
Journal of immunotherapy (Hagerstown, Md. : 1997) | 2000-01-01 | PMID 10916757
Hassan R, Viner J L, Wang Q C and 3 more
[Hereditary fructose intolerance (HFI) as cause of isolated gamma GT rise in a 5-year old boy with hepatomegaly].
Klinische Padiatrie | 2000-01-01 | PMID 10916780
Wössmann W, Wiemann J, Körber F and 1 more
Structure of the Fc fragment of human IgE bound to its high-affinity receptor Fc epsilonRI alpha.
Nature | 2000-07-20 | PMID 10917520
Garman S C, Wurzburg B A, Tarchevskaya S S and 2 more
Presenilin is required for proper morphology and function of neurons in C. elegans.
Nature | 2000-07-20 | PMID 10917532
Wittenburg N, Eimer S, Lakowski B and 3 more
A tertiary interaction that links active-site domains to the 5' splice site of a group II intron.
Nature | 2000-07-20 | PMID 10917534
Boudvillain M, de Lencastre A, Pyle A M
Characterization and modulation of drug resistance of human paediatric rhabdomyosarcoma cell lines.
British journal of cancer | 2000-08-01 | PMID 10917549
Cocker H A, Pinkerton C R, Kelland L R
Contralateral breast cancer risk is influenced by the age at onset in BRCA1-associated breast cancer.
British journal of cancer | 2000-08-01 | PMID 10917555
Verhoog L C, Brekelmans C T, Seynaeve C and 2 more
Genes: BRCA1
N-acetyltransferase 2 and bladder cancer: an overview and consideration of the evidence for gene-environment interaction.
British journal of cancer | 2000-08-01 | PMID 10917561
Green J, Banks E, Berrington A and 3 more
Genes: NAT2
Nonsense-mediated decay mutants do not affect programmed -1 frameshifting.
RNA (New York, N.Y.) | 2000-07-01 | PMID 10917592
Bidou L, Stahl G, Hatin I and 3 more
Cross-talk between orientation-dependent recognition determinants of a complex control RNA element, the enterovirus oriR.
RNA (New York, N.Y.) | 2000-07-01 | PMID 10917594
Melchers W J, Bakkers J M, Bruins Slot H J and 3 more
Genetic interference in Trypanosoma brucei by heritable and inducible double-stranded RNA.
RNA (New York, N.Y.) | 2000-07-01 | PMID 10917601
Shi H, Djikeng A, Mark T and 3 more
Signal transduction. FasL binds preassembled Fas.
Science (New York, N.Y.) | 2000-06-30 | PMID 10917832
Golstein P
Schistosoma mansoni infection cancels the susceptibility to Plasmodium chabaudi through induction of type 1 immune responses in A/J mice.
International immunology | 2000-08-01 | PMID 10917886
Yoshida A, Maruyama H, Kumagai T and 5 more
Properties of HLA class II molecules divergently associated with Goodpasture's disease.
International immunology | 2000-08-01 | PMID 10917888
Phelps R G, Jones V, Turner A N and 1 more
Genes: APC
Structure of celiac disease-associated HLA-DQ8 and non-associated HLA-DQ9 alleles in complex with two disease-specific epitopes.
International immunology | 2000-08-01 | PMID 10917890
Moustakas A K, van de Wal Y, Routsias J and 5 more
Plasma platelet-activating factor acetylhydrolase deficiency is associated with atherosclerotic occlusive disease in japan.
Journal of vascular surgery | 2000-08-01 | PMID 10917985
Unno N, Nakamura T, Kaneko H and 5 more