Pseudo-likelihood estimates of the cumulative risk of an autosomal dominant disease from a kin-cohort study.
Genetic epidemiology | 2001-02-01 | PMID 11180447
Moore D F, Chatterjee N, Pee D and 1 more
Genes: BRCA1, BRCA2
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.
Semantic proximity supports literature exploration. It does not establish scientific or clinical evidence.
Publications
Page 1482 of 10600
Involvement of BRCA1 and BRCA2 in breast cancer in a western Finnish sub-population.
Genetic epidemiology | 2001-02-01 | PMID 11180449
Pääkkönen K, Sauramo S, Sarantaus L and 11 more
Genes: BRCA2, BRCA1
Association between the ancestral haplotype HLA A30B18DR3 and multiple sclerosis in central Sardinia.
Genetic epidemiology | 2001-02-01 | PMID 11180452
Bitti P P, Murgia B S, Ticca A and 10 more
The cloning and characterization of the CDC50 gene family in Saccharomyces cerevisiae.
Yeast (Chichester, England) | 2001-02-01 | PMID 11180453
Radji M, Kim J M, Togan T and 2 more
Hyperthermotolerant fission yeast mutations, sow1 and sow2, suppress the cell cycle defect and stress sensitivity of MAP kinase kinase wis1Delta.
Yeast (Chichester, England) | 2001-02-01 | PMID 11180456
Prochnik S, Fantes P
Pho85 kinase, a yeast cyclin-dependent kinase, regulates the expression of UGP1 encoding UDP-glucose pyrophosphorylase.
Yeast (Chichester, England) | 2001-02-01 | PMID 11180457
Nishizawa M, Tanabe M, Yabuki N and 2 more
Construction of phosphatidylethanolamine-less strain of Saccharomyces cerevisiae. Effect on amino acid transport.
Yeast (Chichester, England) | 2001-02-01 | PMID 11180458
Robl I, Grassl R, Tanner W and 1 more
Genes: BST1, PSD2
Disruption and functional analysis of six ORFs of chromosome IV: YDL103c (QRI1), YDL105w (QRI2), YDL112w (TRM3), YDL113c, YDL116w (NUP84) and YDL167c (NRP1).
Yeast (Chichester, England) | 2001-02-01 | PMID 11180460
Reynaud A, Facca C, Sor F and 1 more
Genes: NRP1
A qualitative study of the information needs of high-risk women undergoing prophylactic oophorectomy.
Psycho-oncology | 2000-01-01 | PMID 11180583
Hallowell N
Psychological impact of prophylactic oophorectomy in women at increased risk for ovarian cancer.
Psycho-oncology | 2000-01-01 | PMID 11180584
Meiser B, Tiller K, Gleeson M A and 3 more
Uptake of hereditary breast/ovarian cancer genetic testing in a French national sample of BRCA1 families. The French Cancer Genetic Network.
Psycho-oncology | 2000-01-01 | PMID 11180585
Julian-Reynier C, Sobol H, Sévilla C and 2 more
Genes: BRCA1
Use of mutation spectra analysis software.
Human mutation | 2001-02-01 | PMID 11180592
Rogozin I, Kondrashov F, Glazko G
Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.
Human mutation | 2001-02-01 | PMID 11180593
Delaunoy J, Abidi F, Zeniou M and 6 more
No evidence for BCL10 mutation in endometrial cancers with microsatellite instability.
Human mutation | 2001-02-01 | PMID 11180594
Cohn D, Mutch D, Elbendary A and 3 more
Genes: BCL10
Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria.
Human mutation | 2001-02-01 | PMID 11180595
Acosta A, Silva W, Carvalho T and 2 more
Genes: PAH
Data mining: Efficiency of using sequence databases for polymorphism discovery.
Human mutation | 2001-02-01 | PMID 11180597
Cox D, Boillot C, Canzian F
Genes: IGFBP1, IGFBP3, PTGS2
Five novel RPGR mutations in families with X-linked retinitis pigmentosa.
Human mutation | 2001-02-01 | PMID 11180598
Guevara-Fujita M, Fahrner S, Buraczynska K and 12 more
Genes: RPGR
Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients.
Human mutation | 2001-02-01 | PMID 11180599
Colliton R P, Bason L, Lu F M and 3 more
Genes: JAG1
Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation.
Human mutation | 2001-02-01 | PMID 11180601
Allende L M, García-Pérez M A, Moreno A and 4 more
European Epidemiologic Registry of Cystic Fibrosis (ERCF): comparison of major disease manifestations between patients with different classes of mutations.
Pediatric pulmonology | 2001-01-01 | PMID 11180668
Koch C, Cuppens H, Rainisio M and 7 more
Genes: FEV
Hormone replacement therapy, prothrombotic mutations, and the risk of incident nonfatal myocardial infarction in postmenopausal women.
JAMA | 2001-02-21 | PMID 11180734
Psaty B M, Smith N L, Lemaitre R N and 4 more
Analysis of human sarcospan as a candidate gene for CFEOM1.
BMC genetics | 2001-01-01 | PMID 11180757
O'Brien K F, Engle E C, Kunkel L M
X-linked loci of Drosophila melanogaster causing defects in the morphology of the embryonic salivary glands.
Development genes and evolution | 2000-11-01 | PMID 11180803
Lammel U, Saumweber H
Butterfly wing pattern mutants: developmental heterochrony and co-ordinately regulated phenotypes.
Development genes and evolution | 2000-11-01 | PMID 11180804
Koch P B, Lorenz U, Brakefield P M and 1 more
Expression of ecdysteroid-regulated genes is reduced specifically in the wing discs of the wing-deficient mutant (fl) of Bombyx mori.
Development genes and evolution | 2000-03-01 | PMID 11180812
Matsuoka T, Fujiwara H
Changes in cell shape in the ventral neuroectoderm of Drosophila melanogaster depend on the activity of the achaete-scute complex genes.
Development genes and evolution | 2000-04-01 | PMID 11180821
Stollewerk A
Patterning defects in the primary axonal scaffolds caused by the mutations of the extradenticle and homothorax genes in the embryonic Drosophila brain.
Development genes and evolution | 2000-06-01 | PMID 11180834
Nagao T, Endo K, Kawauchi H and 2 more
Analysis of four embryo-specific mutants in Zea mays reveals that incomplete radial organization of the proembryo interferes with subsequent development.
Development genes and evolution | 2000-06-01 | PMID 11180835
Elster R, Bommert P, Sheridan W F and 1 more
New phenotypes associated with the swallow gene of Drosophila: evidence for a general role in oocyte cytoskeletal organization.
Development genes and evolution | 2000-09-01 | PMID 11180848
Pokrywka N J, Fishbein L, Frederick J
p53 overexpression and K-ras gene mutations in primary sclerosing cholangitis-associated biliary tract cancer.
Journal of hepato-biliary-pancreatic surgery | 2000-01-01 | PMID 11180865
Ahrendt S A, Rashid A, Chow J T and 3 more
Precancerous conditions of gallbladder carcinoma: overview of histopathologic characteristics and molecular genetic findings.
Journal of hepato-biliary-pancreatic surgery | 2000-01-01 | PMID 11180887
Sasatomi E, Tokunaga O, Miyazaki K
Glutathione S-transferase M1 gene deletion may be associated with susceptibility to certain forms of schizophrenia.
Biochemical and biophysical research communications | 2001-02-23 | PMID 11181039
Harada S, Tachikawa H, Kawanishi Y
Genes: GSTM1
EGF family ligand-dependent phenotypic modulation of smooth muscle cells through EGF receptor.
Biochemical and biophysical research communications | 2001-02-23 | PMID 11181057
Yamanaka Y, Hayashi K, Komurasaki T and 3 more
Genes: EGF, EGFR, BTC
Repression of CD2 gene expression is mediated by an AP-2 related factor.
Biochemical and biophysical research communications | 2001-02-23 | PMID 11181063
Outram S V, Grimwade D, Crompton T
Genomic organization, amplification, fine mapping, and intragenic polymorphisms of the human hemidesmosomal tetraspanin CD151 gene.
Biochemical and biophysical research communications | 2001-02-23 | PMID 11181065
Whittock N V, McLean W H
A promoter function of the CCCGGG Sma I recognition sequence and its specific role in determining p53 status and identifying DNA damaging agents.
Biochemical and biophysical research communications | 2001-02-23 | PMID 11181076
Yang A L, Festing M F
Mutations of the C-terminal end of cathepsin K affect proenzyme secretion and intracellular maturation.
Biochemical and biophysical research communications | 2001-02-23 | PMID 11181082
Claveau D, Riendeau D
A novel mutation lacking the bromodomain of the transcriptional coactivator p300 in the SiHa cervical carcinoma cell line.
Biochemical and biophysical research communications | 2001-02-23 | PMID 11181085
Ohshima T, Suganuma T, Ikeda M
Increased turnover of CCR5+ and redistribution of CCR5- CD4 T lymphocytes during primary human immunodeficiency virus type 1 infection.
The Journal of infectious diseases | 2001-03-01 | PMID 11181150
Zaunders J J, Kaufmann G R, Cunningham P H and 6 more
Genes: CCR5
Phenotypic and genotypic characteristics of Escherichia coli strains of non-enteropathogenic E. coli (EPEC) serogroups that carry EAE and lack the EPEC adherence factor and Shiga toxin DNA probe sequences.
The Journal of infectious diseases | 2001-03-01 | PMID 11181153
Vieira M A, Andrade J R, Trabulsi L R and 5 more
Plasmodium falciparum malaria in Laos: chloroquine treatment outcome and predictive value of molecular markers.
The Journal of infectious diseases | 2001-03-01 | PMID 11181156
Pillai D R, Labbé A C, Vanisaveth V and 5 more
Frequent and persistent, asymptomatic Plasmodium falciparum infections in African infants, characterized by multilocus genotyping.
The Journal of infectious diseases | 2001-03-01 | PMID 11181157
Franks S, Koram K A, Wagner G E and 6 more
Polymorphisms in the CCR5 promoter region influence disease progression in perinatally human immunodeficiency virus type 1-infected children.
The Journal of infectious diseases | 2001-03-01 | PMID 11181160
Ometto L, Bertorelle R, Mainardi M and 6 more
Genes: CCR5, CCR2
Growth and form of secretory granules involves stepwise assembly but not differential sorting of a family of secretory proteins in Paramecium.
Journal of cell science | 2001-03-01 | PMID 11181171
Vayssié L, Garreau de Loubresse N, Sperling L
Effects of stathmin inhibition on the mitotic spindle.
Journal of cell science | 2001-03-01 | PMID 11181174
Iancu C, Mistry S J, Arkin S and 2 more
[Influence of FH Valencia 1 and 2 mutations of the LDL receptor gene on the response to simvastatin in subjects with molecularly defined heterozygous familial hypercholesterolemia in Spain].
Medicina clinica | 2001-01-27 | PMID 11181283
Real J T, Chaves F J, Civera M and 4 more
[Analysis of the HFE gene in a large Spanish kindred with hereditary hemochromatosis].
Medicina clinica | 2001-01-27 | PMID 11181289
Roa S, Martín-Oterino J A, Rodríguez R E and 3 more
Genes: HFE
Spontaneous mutations that confer antibiotic resistance in Helicobacter pylori.
Antimicrobial agents and chemotherapy | 2001-03-01 | PMID 11181351
Wang G, Wilson T J, Jiang Q and 1 more
Rapid detection of mutations in the human-derived Pneumocystis carinii dihydropteroate synthase gene associated with sulfa resistance.
Antimicrobial agents and chemotherapy | 2001-03-01 | PMID 11181359
Ma L, Kovacs J A
Genes: DHPS
In vitro activities of the novel ketolide telithromycin (HMR 3647) against erythromycin-resistant Streptococcus species.
Antimicrobial agents and chemotherapy | 2001-03-01 | PMID 11181362
Jalava J, Kataja J, Seppälä H and 1 more
Eagle-type methicillin resistance: new phenotype of high methicillin resistance under mec regulator gene control.
Antimicrobial agents and chemotherapy | 2001-03-01 | PMID 11181367
Kondo N, Kuwahara-Arai K, Kuroda-Murakami H and 2 more
Phenotypic resistance of Staphylococcus aureus, selected Enterobacteriaceae, and Pseudomonas aeruginosa after single and multiple in vitro exposures to ciprofloxacin, levofloxacin, and trovafloxacin.
Antimicrobial agents and chemotherapy | 2001-03-01 | PMID 11181375
Gilbert D N, Kohlhepp S J, Slama K A and 5 more
Variant human immunodeficiency virus type 1 proteases and response to combination therapy including a protease inhibitor.
Antimicrobial agents and chemotherapy | 2001-03-01 | PMID 11181376
Servais J, Lambert C, Fontaine E and 8 more
Prevalence and conditions of selection of E44D/A and V118I human immunodeficiency virus type 1 reverse transcriptase mutations in clinical practice.
Antimicrobial agents and chemotherapy | 2001-03-01 | PMID 11181387
Delaugerre C, Mouroux M, Yvon-Groussin A and 6 more
New mutation in parE in a pneumococcal in vitro mutant resistant to fluoroquinolones.
Antimicrobial agents and chemotherapy | 2001-03-01 | PMID 11181389
Janoir C, Varon E, Kitzis M D and 1 more
Mutations of the Helicobacter pylori genes rdxA and pbp1 cause resistance against metronidazole and amoxicillin.
Antimicrobial agents and chemotherapy | 2001-03-01 | PMID 11181392
Paul R, Postius S, Melchers K and 1 more
Genetic deletion of COX-2 prevents increased renin expression in response to ACE inhibition.
American journal of physiology. Renal physiology | 2001-03-01 | PMID 11181406
Cheng H F, Wang J L, Zhang M Z and 3 more
Genes: ACE
Single nucleotide polymorphisms, metabolic activation and environmental carcinogenesis: why molecular epidemiologists should think about enzyme expression.
Carcinogenesis | 2001-02-01 | PMID 11181440
Williams J A
Genes: MPO, NAT2
Enhanced S phase delay and inhibition of replication of an undamaged shuttle vector in UVC-irradiated xeroderma pigmentosum variant.
Carcinogenesis | 2001-02-01 | PMID 11181443
Bullock S K, Kaufmann W K, Cordeiro-Stone M
Constitutive expression of interleukin-8 by Mutatect cells markedly affects their tumor biology.
Carcinogenesis | 2001-02-01 | PMID 11181444
Haqqani A S, Sandhu J K, Birnboim H C
beta-Catenin mutation in rat colon tumors initiated by 1,2-dimethylhydrazine and 2-amino-3-methylimidazo[4,5-f]quinoline, and the effect of post-initiation treatment with chlorophyllin and indole-3-carbinol.
Carcinogenesis | 2001-02-01 | PMID 11181454
Blum C A, Xu M, Orner G A and 5 more
Early detection of 2-amino-1-methyl-6-phenylimidazo (4,5-b)pyridine(PhIP)-induced mutations within the Apc gene of rat colon.
Carcinogenesis | 2001-02-01 | PMID 11181456
Burnouf D, Miturski R, Nagao M and 4 more
Genes: APC
Resistance to melanoma metastases in mice selected for high acute inflammatory response.
Carcinogenesis | 2001-02-01 | PMID 11181457
Maria D A, Ribeiro O G, Pizzocaro K F and 7 more
Heterozygosity for a mutation in Brca1 or Atm does not increase susceptibility to ENU-induced mammary tumors in Apc(Min)/+ mice.
Carcinogenesis | 2001-02-01 | PMID 11181458
Karabinis M E, Larson D, Barlow C and 2 more
Genes: ATM, BRCA1
Polymorphic variation in CYP19 and the risk of breast cancer.
Carcinogenesis | 2001-02-01 | PMID 11181459
Baxter S W, Choong D Y, Eccles D M and 1 more
Resistance of Copenhagen rats to hepatocarcinogenesis does not involve T-cell immunity.
Carcinogenesis | 2001-02-01 | PMID 11181461
Wood G A, Korkola J E, Archer M C
Genetic variation in angiotensin-converting enzyme does not prevent development of cardiac hypertrophy or upregulation of angiotensin II in response to aortocaval fistula.
Circulation | 2001-02-20 | PMID 11181478
Perry G J, Mori T, Wei C C and 5 more
Genes: ACE
Novel mutations of CYP3A4 in Chinese.
Drug metabolism and disposition: the biological fate of chemicals | 2001-03-01 | PMID 11181494
Hsieh K P, Lin Y Y, Cheng C L and 4 more
Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition.
Human molecular genetics | 2001-03-01 | PMID 11181567
Chen Z, Karaplis A C, Ackerman S L and 13 more
Genes: MTHFR
Ulcerative colitis and Crohn's disease: distinctive gene expression profiles and novel susceptibility candidate genes.
Human molecular genetics | 2001-03-01 | PMID 11181568
Lawrance I C, Fiocchi C, Chakravarti S
Genes: DEFA5, DEFA6, MXI1
Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS.
Human molecular genetics | 2001-03-01 | PMID 11181570
Bliek J, Maas S M, Ruijter J M and 4 more
The mouse slalom mutant demonstrates a role for Jagged1 in neuroepithelial patterning in the organ of Corti.
Human molecular genetics | 2001-03-01 | PMID 11181574
Tsai H, Hardisty R E, Rhodes C and 8 more
Evolution of instability at coding and non-coding repeat sequences in human MSI-H colorectal cancers.
Human molecular genetics | 2001-03-01 | PMID 11181575
Duval A, Rolland S, Compoint A and 4 more
Genes: RAD50
The polymerase L528M mutation cooperates with nucleotide binding-site mutations, increasing hepatitis B virus replication and drug resistance.
The Journal of clinical investigation | 2001-02-01 | PMID 11181644
Ono S K, Kato N, Shiratori Y and 5 more
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.
The Journal of clinical investigation | 2001-02-01 | PMID 11181649
Baumgartner M R, Almashanu S, Suormala T and 5 more
Genes: MCC
Role for HLA class II molecules in HIV-1 suppression and cellular immunity following antiretroviral treatment.
The Journal of clinical investigation | 2001-02-01 | PMID 11181650
Malhotra U, Holte S, Dutta S and 6 more
Effectiveness of breast cancer surveillance in BRCA1/2 gene mutation carriers and women with high familial risk.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2001-02-15 | PMID 11181654
Brekelmans C T, Seynaeve C, Bartels C C and 9 more
Genes: BRCA1
Loss of precursor B cell expansion but not allelic exclusion in VpreB1/VpreB2 double-deficient mice.
The Journal of experimental medicine | 2001-02-19 | PMID 11181696
Mundt C, Licence S, Shimizu T and 2 more
Leaf ureide degradation and N(2) fixation tolerance to water deficit in soybean.
Journal of experimental botany | 2001-01-01 | PMID 11181724
Vadez V, Sinclair T R
A simple approach to identify the first rice mutants blocked in carotenoid biosynthesis.
Journal of experimental botany | 2001-01-01 | PMID 11181725
Wurtzel E T, Luo R B, Yatou O
Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees.
Journal of lipid research | 2001-02-01 | PMID 11181744
Lee M H, Hazard S, Carpten J D and 5 more
New genetic variants in the apoA-I and apoC-III genes and familial combined hyperlipidemia.
Journal of lipid research | 2001-02-01 | PMID 11181747
Groenendijk M, Cantor R M, De Bruin T W and 1 more
Effect of the apolipoprotein A-IV Q360H polymorphism on postprandial plasma triglyceride clearance.
Journal of lipid research | 2001-02-01 | PMID 11181750
Hockey K J, Anderson R A, Cook V R and 2 more
Promoter polymorphisms of hepatic lipase gene influence HDL(2) but not HDL(3) in African American men: CARDIA study.
Journal of lipid research | 2001-02-01 | PMID 11181756
Juo S H, Han Z, Smith J D and 2 more
Genes: LIPC
Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na/Pi cotransporter NPT2 gene.
Journal of the American Society of Nephrology : JASN | 2001-03-01 | PMID 11181798
Jones Andrew O, Tzenova Jordana, Frappier Danielle and 12 more
Galectin-3 modulates ureteric bud branching in organ culture of the developing mouse kidney.
Journal of the American Society of Nephrology : JASN | 2001-03-01 | PMID 11181799
Bullock Simon L, Johnson Tanya M, Bao Q I and 3 more
Diminished LDL receptor and high heparin binding of apolipoprotein E2 Sendai associated with lipoprotein glomerulopathy.
Journal of the American Society of Nephrology : JASN | 2001-03-01 | PMID 11181800
Hoffmann Michael M, Scharnagl Hubert, Panagiotou Eleftheria and 3 more
Prognostic value of angiotensin-I converting enzyme I/D polymorphism for nephropathy in type 1 diabetes mellitus: a prospective study.
Journal of the American Society of Nephrology : JASN | 2001-03-01 | PMID 11181802
Hadjadj Samy, Belloum Riadh, Bouhanick Béatrice and 5 more
Genes: ACE, AGT
Angiotensinogen in essential hypertension: from genetics to nephrology.
Journal of the American Society of Nephrology : JASN | 2001-03-01 | PMID 11181811
Lalouel Jean-Marc, Rohrwasser Andreas, Terreros Daniel and 2 more
Effect of overexpression of wild-type and mutant Cu/Zn-superoxide dismutases on oxidative damage and antioxidant defences: relevance to Down's syndrome and familial amyotrophic lateral sclerosis.
Journal of neurochemistry | 2001-02-01 | PMID 11181815
Lee M, Hyun D, Jenner P and 1 more
Genes: SOD1, SOD2
Effect of the overexpression of wild-type or mutant alpha-synuclein on cell susceptibility to insult.
Journal of neurochemistry | 2001-02-01 | PMID 11181819
Lee M, Hyun D, Halliwell B and 1 more
beta-Amyloid efflux mediated by p-glycoprotein.
Journal of neurochemistry | 2001-02-01 | PMID 11181832
Lam F C, Liu R, Lu P and 4 more
alpha-Tocopherol/lipid ratio in blood is decreased in patients with Leber's hereditary optic neuropathy and asymptomatic carriers of the 11778 mtDNA mutation.
Journal of neurology, neurosurgery, and psychiatry | 2001-03-01 | PMID 11181859
Klivenyi P, Karg E, Rozsa C and 5 more
Molecular diversity of pacemaker ion channels.
Annual review of physiology | 2001-01-01 | PMID 11181956
Kaupp U B, Seifert R
Nephrogenic diabetes insipidus.
Annual review of physiology | 2001-01-01 | PMID 11181969
Morello J P, Bichet D G
Genes: AVPR2, AQP2
Randomized placebo-controlled trial of perindopril in normotensive, normoalbuminuric patients with type 1 diabetes mellitus.
QJM : monthly journal of the Association of Physicians | 2001-02-01 | PMID 11181984
Kvetny J, Gregersen G, Pedersen R S
Genes: ACE, ACR, MBP
Birth of two chimeric genes in the Hominidae lineage.
Science (New York, N.Y.) | 2001-02-16 | PMID 11181993
Courseaux A, Nahon J L
The sequence of the human genome.
Science (New York, N.Y.) | 2001-02-16 | PMID 11181995
Venter J C, Adams M D, Myers E W and 271 more
Expression of E-cadherin and beta-catenin in primary and peritoneal metastatic ovarian carcinoma.
Oncology reports | 2000-01-01 | PMID 11182035
Fujioka T, Takebayashi Y, Kihana T and 6 more
c-myc gene mutation in gastric mucosa-associated lymphoid tissue (MALT) lymphoma and diffuse large B-cell lymphoma.
Oncology reports | 2000-01-01 | PMID 11182042
Hiyama T, Haruma K, Kitadai Y and 8 more