A new locus for autosomal recessive hypercholesterolemia maps to human chromosome 15q25-q26.
American journal of human genetics | 2000-02-01 | PMID 10677305
Ciccarese M, Pacifico A, Tonolo G and 6 more
Genes: APOB
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 1279 of 10600
X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3.
American journal of human genetics | 2000-02-01 | PMID 10677306
Bennett C L, Yoshioka R, Kiyosawa H and 4 more
A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27.
American journal of human genetics | 2000-02-01 | PMID 10677307
Shashi V, Berry M N, Shoaf S and 3 more
Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population.
American journal of human genetics | 2000-02-01 | PMID 10677308
Crawford D C, Schwartz C E, Meadows K L and 13 more
Genes: ATL1
ATM-heterozygous germline mutations contribute to breast cancer-susceptibility.
American journal of human genetics | 2000-02-01 | PMID 10677309
Broeks A, Urbanus J H, Floore A N and 7 more
Genes: ATM
Fine localization of a major disease-susceptibility locus for diffuse panbronchiolitis.
American journal of human genetics | 2000-02-01 | PMID 10677310
Keicho N, Ohashi J, Tamiya G and 9 more
Reproducibility and complications in gene searches: linkage on chromosome 6, heterogeneity, association, and maternal inheritance in juvenile myoclonic epilepsy.
American journal of human genetics | 2000-02-01 | PMID 10677311
Greenberg D A, Durner M, Keddache M and 14 more
Variation in the interleukin 4-receptor alpha gene confers susceptibility to asthma and atopy in ethnically diverse populations.
American journal of human genetics | 2000-02-01 | PMID 10677312
Ober C, Leavitt S A, Tsalenko A and 14 more
Individual estimates of European genetic admixture associated with lower body-mass index, plasma glucose, and prevalence of type 2 diabetes in Pima Indians.
American journal of human genetics | 2000-02-01 | PMID 10677313
Williams R C, Long J C, Hanson R L and 2 more
Linkage analyses at the chromosome 1 loci 1q24-25 (HPC1), 1q42.2-43 (PCAP), and 1p36 (CAPB) in families with hereditary prostate cancer.
American journal of human genetics | 2000-02-01 | PMID 10677314
Berry R, Schaid D J, Smith J R and 11 more
Genes: NPL
Genome screening in human systemic lupus erythematosus: results from a second Minnesota cohort and combined analyses of 187 sib-pair families.
American journal of human genetics | 2000-02-01 | PMID 10677315
Gaffney P M, Ortmann W A, Selby S A and 12 more
Evidence for heterogeneity in recombination in the human pseudoautosomal region: high resolution analysis by sperm typing and radiation-hybrid mapping.
American journal of human genetics | 2000-02-01 | PMID 10677316
Lien S, Szyda J, Schechinger B and 2 more
Removing the sampling restrictions from family-based tests of association for a quantitative-trait locus.
American journal of human genetics | 2000-02-01 | PMID 10677318
Monks S A, Kaplan N L
Family-based tests of association and linkage that use unaffected sibs, covariates, and interactions.
American journal of human genetics | 2000-02-01 | PMID 10677320
Lunetta K L, Faraone S V, Biederman J and 1 more
A coalescent approach to study linkage disequilibrium between single-nucleotide polymorphisms.
American journal of human genetics | 2000-02-01 | PMID 10677321
Zöllner S, von Haeseler A
Estimation of variance components of quantitative traits in inbred populations.
American journal of human genetics | 2000-02-01 | PMID 10677322
Abney M, McPeek M S, Ober C
New estimates of intergenerational time intervals for the calculation of age and origins of mutations.
American journal of human genetics | 2000-02-01 | PMID 10677323
Tremblay M, Vézina H
Haplotype fine mapping by evolutionary trees.
American journal of human genetics | 2000-02-01 | PMID 10677324
Lam J C, Roeder K, Devlin B
Y chromosomes traveling south: the cohen modal haplotype and the origins of the Lemba--the "Black Jews of Southern Africa".
American journal of human genetics | 2000-02-01 | PMID 10677325
Thomas M G, Parfitt T, Weiss D A and 5 more
Age estimate of the N370S mutation causing Gaucher disease in Ashkenazi Jews and European populations: A reappraisal of haplotype data.
American journal of human genetics | 2000-02-01 | PMID 10677327
Colombo R
A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2.
American journal of human genetics | 2000-02-01 | PMID 10677328
Lopes-Cendes I, Scheffer I E, Berkovic S F and 3 more
A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.
American journal of human genetics | 2000-02-01 | PMID 10677329
Fontaine B, Davoine C S, Dürr A and 5 more
Absence of significant linkage between phonological coding dyslexia and chromosome 6p23-21.3, as determined by use of quantitative-trait methods: confirmation of qualitative analyses.
American journal of human genetics | 2000-02-01 | PMID 10677330
Petryshen T L, Kaplan B J, Liu M F and 1 more
Genes: RAN
Chromosome 6p influences on different dyslexia-related cognitive processes: further confirmation.
American journal of human genetics | 2000-02-01 | PMID 10677331
Grigorenko E L, Wood F B, Meyer M S and 1 more
Application and interpretation of transmission/disequilibrium tests: transmission of HLA-DQ haplotypes to unaffected siblings in 526 families with type 1 diabetes.
American journal of human genetics | 2000-02-01 | PMID 10677335
Lie B A, Ronningen K S, Akselsen H E and 2 more
Zinc-regulated ubiquitin conjugation signals endocytosis of the yeast ZRT1 zinc transporter.
The Biochemical journal | 2000-03-01 | PMID 10677350
Gitan R S, Eide D J
Mutations in the reduced-folate carrier affect protein localization and stability.
The Biochemical journal | 2000-03-01 | PMID 10677373
Sadlish H, Murray R C, Williams F M and 1 more
Identifying genetic susceptibility factors for tuberculosis in Africans: a combined approach using a candidate gene study and a genome-wide screen.
Clinical science (London, England : 1979) | 2000-03-01 | PMID 10677381
Bellamy R
Genetic analysis of the atrial natriuretic peptide gene in essential hypertension.
Clinical science (London, England : 1979) | 2000-03-01 | PMID 10677382
Kato N, Sugiyama T, Morita H and 4 more
Low paraoxonase activity in type II diabetes mellitus complicated by retinopathy.
Clinical science (London, England : 1979) | 2000-03-01 | PMID 10677395
Mackness B, Durrington P N, Abuashia B and 2 more
Genes: PON1, PON2
Influence of the testa on seed dormancy, germination, and longevity in Arabidopsis.
Plant physiology | 2000-02-01 | PMID 10677433
Debeaujon I, Léon-Kloosterziel K M, Koornneef M
Gibberellin requirement for Arabidopsis seed germination is determined both by testa characteristics and embryonic abscisic acid.
Plant physiology | 2000-02-01 | PMID 10677434
Debeaujon I, Koornneef M
Interaction of root gravitropism and phototropism in Arabidopsis wild-type and starchless mutants.
Plant physiology | 2000-02-01 | PMID 10677438
Vitha S, Zhao L, Sack F D
A specific beta-glucosidase-aggregating factor is responsible for the beta-glucosidase null phenotype in maize.
Plant physiology | 2000-02-01 | PMID 10677449
Esen A, Blanchard D J
A structural basis for integrin activation by the cytoplasmic tail of the alpha IIb-subunit.
Proceedings of the National Academy of Sciences of the United States of America | 2000-02-15 | PMID 10677482
Vinogradova O, Haas T, Plow E F and 1 more
Three-dimensional modeling of and ligand docking to vitamin D receptor ligand binding domain.
Proceedings of the National Academy of Sciences of the United States of America | 2000-02-15 | PMID 10677485
Yamamoto K, Masuno H, Choi M and 8 more
Genes: VDR
Folding and activity of circularly permuted forms of a polytopic membrane protein.
Proceedings of the National Academy of Sciences of the United States of America | 2000-02-15 | PMID 10677487
Beutler R, Ruggiero F, Erni B
Studies on the role of the hydrophobic domain of Ost4p in interactions with other subunits of yeast oligosaccharyl transferase.
Proceedings of the National Academy of Sciences of the United States of America | 2000-02-15 | PMID 10677492
Kim H, Park H, Montalvo L and 1 more
Coupling between protein folding and allostery in the GroE chaperonin system.
Proceedings of the National Academy of Sciences of the United States of America | 2000-02-15 | PMID 10677493
Yifrach O, Horovitz A
Transition-state structure as a unifying basis in protein-folding mechanisms: contact order, chain topology, stability, and the extended nucleus mechanism.
Proceedings of the National Academy of Sciences of the United States of America | 2000-02-15 | PMID 10677494
Fersht A R
Identification of the proton pathway in bacterial reaction centers: replacement of Asp-M17 and Asp-L210 with asn reduces the proton transfer rate in the presence of Cd2+.
Proceedings of the National Academy of Sciences of the United States of America | 2000-02-15 | PMID 10677498
Paddock M L, Feher G, Okamura M Y
Aggregation of huntingtin in yeast varies with the length of the polyglutamine expansion and the expression of chaperone proteins.
Proceedings of the National Academy of Sciences of the United States of America | 2000-02-15 | PMID 10677504
Krobitsch S, Lindquist S
Efficient studies of long-distance Bmp5 gene regulation using bacterial artificial chromosomes.
Proceedings of the National Academy of Sciences of the United States of America | 2000-02-15 | PMID 10677507
DiLeone R J, Marcus G A, Johnson M D and 1 more
Zic2 regulates the kinetics of neurulation.
Proceedings of the National Academy of Sciences of the United States of America | 2000-02-15 | PMID 10677508
Nagai T, Aruga J, Minowa O and 4 more
Genes: ZIC2
Biodiversity of Costa Rican salamanders: implications of high levels of genetic differentiation and phylogeographic structure for species formation.
Proceedings of the National Academy of Sciences of the United States of America | 2000-02-15 | PMID 10677512
Garcia-Paris M, Good D A, Parra-Olea G and 1 more
Identification of hepatitis B virus indigenous to chimpanzees.
Proceedings of the National Academy of Sciences of the United States of America | 2000-02-15 | PMID 10677515
Hu X, Margolis H S, Purcell R H and 2 more
The dual functions of fas ligand in the regulation of peripheral CD8+ and CD4+ T cells.
Proceedings of the National Academy of Sciences of the United States of America | 2000-02-15 | PMID 10677522
Suzuki I, Fink P J
Role of Syk in B-cell development and antigen-receptor signaling.
Proceedings of the National Academy of Sciences of the United States of America | 2000-02-15 | PMID 10677523
Cornall R J, Cheng A M, Pawson T and 1 more
Genes: BCR
Polycystin 1 is required for the structural integrity of blood vessels.
Proceedings of the National Academy of Sciences of the United States of America | 2000-02-15 | PMID 10677526
Kim K, Drummond I, Ibraghimov-Beskrovnaya O and 2 more
Genes: PKD1
Chemical chaperones mediate increased secretion of mutant alpha 1-antitrypsin (alpha 1-AT) Z: A potential pharmacological strategy for prevention of liver injury and emphysema in alpha 1-AT deficiency.
Proceedings of the National Academy of Sciences of the United States of America | 2000-02-15 | PMID 10677536
Burrows J A, Willis L K, Perlmutter D H
Facilitated diffusion of fructose via the phosphoenolpyruvate/glucose phosphotransferase system of Escherichia coli.
Proceedings of the National Academy of Sciences of the United States of America | 2000-02-15 | PMID 10677538
Kornberg H L, Lambourne L T, Sproul A A
Genes: PTS
Importance of newly generated neurons in the adult olfactory bulb for odor discrimination.
Proceedings of the National Academy of Sciences of the United States of America | 2000-02-15 | PMID 10677540
Gheusi G, Cremer H, McLean H and 3 more
Isolation and characterization of powdery mildew-resistant Arabidopsis mutants.
Proceedings of the National Academy of Sciences of the United States of America | 2000-02-15 | PMID 10677553
Vogel J, Somerville S
Estrogen receptor variants are present in many normal human tissues.
International journal of molecular medicine | 2000-03-01 | PMID 10677560
Yang J, Liu A, Chiou S K and 2 more
Transcript heterogeneity of the human gene for Ca2+-binding protein regucalcin.
International journal of molecular medicine | 2000-03-01 | PMID 10677570
Misawa H, Yamaguchi M
The H9/M8166 tropism of various HIV-1 mutants is determined by distinct cellular factors (review).
International journal of molecular medicine | 2000-03-01 | PMID 10677572
Yoshida A, Shimomoto J, Koh K B and 2 more
Dominant sensitization variants of human O(6)-methylguanine-DNA-methyltransferase obtained by a mutational screen of surface residues.
Mutation research | 2000-02-16 | PMID 10677686
Brown L R, Deng J, Clarke N D
A role for extracellular amastigotes in the immunopathology of Chagas disease.
Memorias do Instituto Oswaldo Cruz | 1999-01-01 | PMID 10677691
Scharfstein J, Morrot A
Genes: GPI
Genetic diversity and genetic exchange in Trypanosoma cruzi: dual drug-resistant "progeny" from episomal transformants.
Memorias do Instituto Oswaldo Cruz | 1999-01-01 | PMID 10677713
Stothard J, Frame I, Miles M
Mitochondrial DNA variation of Triatoma infestans populations and its implication on the specific status of T. melanosoma.
Memorias do Instituto Oswaldo Cruz | 1999-01-01 | PMID 10677723
Monteiro F A, Pérez R, Panzera F and 6 more
High DNA sequence variability at the alpha 1 Na/K-ATPase locus of Artemia franciscana (brine shrimp): polymorphism in a gene for salt-resistance in a salt-resistant organism.
Molecular biology and evolution | 2000-02-01 | PMID 10677846
Sáez A G, Escalante R, Sastre L
Intragenomic variation within ITS1 and ITS2 of freshwater crayfishes (Decapoda: Cambaridae): implications for phylogenetic and microsatellite studies.
Molecular biology and evolution | 2000-02-01 | PMID 10677851
Harris D J, Crandall K A
The alpha-mannosidases: phylogeny and adaptive diversification.
Molecular biology and evolution | 2000-02-01 | PMID 10677852
Gonzalez D S, Jordan I K
Evolutionary history of the human endogenous retrovirus family ERV9.
Molecular biology and evolution | 2000-02-01 | PMID 10677855
Costas J, Naveira H
Autosomal recessive hereditary neuropathy with focally folded myelin sheaths and linked to chromosome 11q23: a distinct and homogeneous entity.
Neuromuscular disorders : NMD | 2000-01-01 | PMID 10677858
Salih M A, Maisonobe T, Kabiraj M and 10 more
Two distal mutations in the gene encoding emerin have profoundly different effects on emerin protein expression.
Neuromuscular disorders : NMD | 2000-01-01 | PMID 10677860
Ellis J A, Brown C A, Tilley L D and 3 more
Different effects of mexiletine on two mutant sodium channels causing paramyotonia congenita and hyperkalemic periodic paralysis.
Neuromuscular disorders : NMD | 2000-01-01 | PMID 10677861
Weckbecker K, Würz A, Mohammadi B and 6 more
An Italian family with Ala-47 transthyretin mutation associated with cardiomyopathy and polyneuropathy.
Neuromuscular disorders : NMD | 2000-01-01 | PMID 10677864
Solaro C, Schenone A, Di Sapio A and 4 more
Genes: TTR
Single large-scale mitochondrial DNA deletion in a patient with encephalopathy, cardiomyopathy, and prominent intestinal pseudo-obstruction.
Neuromuscular disorders : NMD | 2000-01-01 | PMID 10677865
Campos Y, Martín M A, Caballero C and 4 more
Identification of homozygous and heterozygous dy2J mice by PCR.
Neuromuscular disorders : NMD | 2000-01-01 | PMID 10677866
Vilquin J T, Vignier N, Tremblay J P and 3 more
Amyotrophic lateral sclerosis: copper/zinc superoxide dismutase (SOD1) gene mutations.
Neuromuscular disorders : NMD | 2000-01-01 | PMID 10677867
Orrell R W
Genes: SOD1
[Ultrastructure of adherence of Streptococcus mutans MT8148 and its glucosyltransferase deficient mutants].
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology | 1997-03-01 | PMID 10677961
Bian Z, Fan M, Wei G
[Diagnostic value of CD44 splice variants in urine exfoliated cells of bladder cancer].
Zhonghua wai ke za zhi [Chinese journal of surgery] | 1997-09-01 | PMID 10678025
Wu Z, Zhang Y, Liu D
CYP2D6 phenotype determines pharmacokinetic variability of propafenone enantiomers in 16 HAN Chinese subjects.
Zhongguo yao li xue bao = Acta pharmacologica Sinica | 1999-08-01 | PMID 10678105
Cai W M, Chen B, Cai M H and 1 more
Correlation between cytochrome P-450 CYP2D6 (CYP2D6) genotype and phenotype.
Zhongguo yao li xue bao = Acta pharmacologica Sinica | 1999-07-01 | PMID 10678117
Chen S Q, Wedlund P J
CDK inactivation is the only essential function of the APC/C and the mitotic exit network proteins for origin resetting during mitosis.
Molecular cell | 2000-01-01 | PMID 10678171
Noton E, Diffley J F
Genes: APC
Rnq1: an epigenetic modifier of protein function in yeast.
Molecular cell | 2000-01-01 | PMID 10678178
Sondheimer N, Lindquist S
VASA mediates translation through interaction with a Drosophila yIF2 homolog.
Molecular cell | 2000-01-01 | PMID 10678180
Carrera P, Johnstone O, Nakamura A and 3 more
Nf1 and Gmcsf interact in myeloid leukemogenesis.
Molecular cell | 2000-01-01 | PMID 10678181
Birnbaum R A, O'Marcaigh A, Wardak Z and 5 more
The human obesity gene map: the 1999 update.
Obesity research | 2000-01-01 | PMID 10678263
Chagnon Y C, Pérusse L, Weisnagel S J and 2 more
Carotid thickening, cardiac hypertrophy, and angiotensin converting enzyme gene polymorphism in patients with hypertension.
American journal of hypertension | 2000-01-01 | PMID 10678281
Jeng J R
Genes: ACE
Human immunodeficiency virus drug resistance testing: state of the art in genotypic and phenotypic testing of antiretrovirals.
Pharmacotherapy | 2000-02-01 | PMID 10678293
Romanelli F, Pomeroy C
Evaluation of the influence of diabetes mellitus on antipyrine metabolism and CYP1A2 and CYP2D6 activity.
Pharmacotherapy | 2000-02-01 | PMID 10678296
Matzke G R, Frye R F, Early J J and 2 more
Vaccinia as a vector for tumor-directed gene therapy: biodistribution of a thymidine kinase-deleted mutant.
Cancer gene therapy | 2000-01-01 | PMID 10678358
Puhlmann M, Brown C K, Gnant M and 4 more
Phenotypic and functional characterization of interstitial cells from human heart valves, pericardium and skin.
The Journal of heart valve disease | 2000-01-01 | PMID 10678389
Taylor P M, Allen S P, Yacoub M H
Identification of two allelic IgG1 C(H) coding regions (Cgamma1) of cat.
Veterinary immunology and immunopathology | 2000-01-31 | PMID 10678398
Kanai T H, Ueda S, Nakamura T
No major effect of estrogen receptor gene polymorphisms on bone mineral density or bone loss in postmenopausal Danish women.
Bone | 2000-02-01 | PMID 10678404
Bagger Y Z, Jørgensen H L, Heegaard A M and 3 more
Heritability heightens brain metabolite differences in schizophrenia.
The Journal of neuropsychiatry and clinical neurosciences | 2000-01-01 | PMID 10678520
Fukuzako H
Development of different phenotypes of hypertensive heart failure: systolic versus diastolic failure in Dahl salt-sensitive rats.
Journal of hypertension | 2000-01-01 | PMID 10678551
Doi R, Masuyama T, Yamamoto K and 9 more
Frequency of HLA-A alleles in Japanese patients with head and neck cancer.
Japanese journal of clinical oncology | 1999-11-01 | PMID 10678555
Eura M, Katsura F, Oiso M and 4 more
Phenotypical and morphological alterations to rat sinusoidal endothelial cells in arterialized livers after portal branch ligation.
Archives of histology and cytology | 1999-12-01 | PMID 10678569
Yamasaki M, Ikeda K, Nakatani K and 5 more
Acute renal artery and vein thrombosis after renal transplant, associated with a short partial thromboplastin time and factor V Leiden mutation.
Annals of clinical and laboratory science | 2000-01-01 | PMID 10678587
Guirguis N, Budisavljevic M N, Self S and 2 more
Short stature in carriers of recessive mutation causing familial isolated growth hormone deficiency.
American journal of medical genetics | 2000-01-31 | PMID 10678654
Leiberman E, Pesler D, Parvari R and 5 more
Cri du chat syndrome: changing phenotype in older patients.
American journal of medical genetics | 2000-01-31 | PMID 10678657
Van Buggenhout G J, Pijkels E, Holvoet M and 3 more
Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia.
American journal of medical genetics | 2000-01-31 | PMID 10678658
Lohiniva J, Paassilta P, Seppänen U and 3 more
Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome.
American journal of medical genetics | 2000-01-31 | PMID 10678659
Lindor N M, Furuichi Y, Kitao S and 3 more
Genes: RECQL4
Large plaque parapsoriasis: clinical and genotypic correlations.
Journal of cutaneous pathology | 2000-02-01 | PMID 10678699
Simon M, Flaig M J, Kind P and 2 more
Genes: LPP
Extranodal peripheral T-cell lymphoma with angiocentric growth pattern and Epstein-Barr viral DNA associated affecting paratesticular soft tissue.
Journal of cutaneous pathology | 2000-02-01 | PMID 10678703
Pérez-Vallés A, Sabater-Marco V, Carpio-Máñez D and 3 more
Evidence for a high frequency of simultaneous double-nucleotide substitutions.
Science (New York, N.Y.) | 2000-02-18 | PMID 10678838
Averof M, Rokas A, Wolfe K H and 1 more
Allele substitution of the streptokinase gene reduces the nephritogenic capacity of group A streptococcal strain NZ131.
Infection and immunity | 2000-03-01 | PMID 10678902
Nordstrand A, McShan W M, Ferretti J J and 2 more