Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation.
American journal of human genetics | 1999-06-01 | PMID 10330346
Giunti P, Stevanin G, Worth P F and 3 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 1145 of 10600
Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.
American journal of human genetics | 1999-06-01 | PMID 10330348
Teraoka S N, Telatar M, Becker-Catania S and 8 more
Genes: ATM
High rate of mosaicism in tuberous sclerosis complex.
American journal of human genetics | 1999-06-01 | PMID 10330349
Verhoef S, Bakker L, Tempelaars A M and 10 more
Genes: TSC1, TSC2
Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion.
American journal of human genetics | 1999-06-01 | PMID 10330351
Ozen R S, Baysal B E, Devlin B and 4 more
Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21.
American journal of human genetics | 1999-06-01 | PMID 10330353
Balemans W, Van Den Ende J, Freire Paes-Alves A and 8 more
Assessing the feasibility of linkage disequilibrium methods for mapping complex traits: an initial screen for bipolar disorder loci on chromosome 18.
American journal of human genetics | 1999-06-01 | PMID 10330354
Escamilla M A, McInnes L A, Spesny M and 19 more
Tracing the origin of HLA-DRB1 alleles by microsatellite polymorphism.
American journal of human genetics | 1999-06-01 | PMID 10330359
Bergström T F, Engkvist H, Erlandsson R and 4 more
The role of community review in evaluating the risks of human genetic variation research.
American journal of human genetics | 1999-06-01 | PMID 10330360
Foster M W, Sharp R R, Freeman W L and 3 more
LST1 is a SEC24 homologue used for selective export of the plasma membrane ATPase from the endoplasmic reticulum.
The Journal of cell biology | 1999-05-17 | PMID 10330397
Roberg K J, Crotwell M, Espenshade P and 2 more
Genes: LST1
Changes in the balance of phosphoinositide 3-kinase/protein kinase B (Akt) and the mitogen-activated protein kinases (ERK/p38MAPK) determine a phenotype of visceral and vascular smooth muscle cells.
The Journal of cell biology | 1999-05-17 | PMID 10330402
Hayashi K, Takahashi M, Kimura K and 3 more
Genes: EGF
Oxygen stress: a regulator of apoptosis in yeast.
The Journal of cell biology | 1999-05-17 | PMID 10330404
Madeo F, Fröhlich E, Ligr M and 4 more
Localization of core spindle pole body (SPB) components during SPB duplication in Saccharomyces cerevisiae.
The Journal of cell biology | 1999-05-17 | PMID 10330408
Adams I R, Kilmartin J V
Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation.
The Journal of clinical investigation | 1999-05-15 | PMID 10330419
Darling T N, Yee C, Bauer J W and 2 more
Identification of a contractile deficit in adult cardiac myocytes expressing hypertrophic cardiomyopathy-associated mutant troponin T proteins.
The Journal of clinical investigation | 1999-05-15 | PMID 10330428
Rust E M, Albayya F P, Metzger J M
Identification of lymphomyeloid primitive progenitor cells in fresh human cord blood and in the marrow of nonobese diabetic-severe combined immunodeficient (NOD-SCID) mice transplanted with human CD34(+) cord blood cells.
The Journal of experimental medicine | 1999-05-17 | PMID 10330439
Robin C, Pflumio F, Vainchenker W and 1 more
A human immunoglobulin lambda locus is similarly well expressed in mice and humans.
The Journal of experimental medicine | 1999-05-17 | PMID 10330440
Popov A V, Zou X, Xian J and 2 more
A novel mouse with B cells but lacking serum antibody reveals an antibody-independent role for B cells in murine lupus.
The Journal of experimental medicine | 1999-05-17 | PMID 10330443
Chan O T, Hannum L G, Haberman A M and 2 more
The irregular xylem3 locus of Arabidopsis encodes a cellulose synthase required for secondary cell wall synthesis.
The Plant cell | 1999-05-01 | PMID 10330464
Taylor N G, Scheible W R, Cutler S and 2 more
Genes: IRX3
CUT1, an Arabidopsis gene required for cuticular wax biosynthesis and pollen fertility, encodes a very-long-chain fatty acid condensing enzyme.
The Plant cell | 1999-05-01 | PMID 10330468
Millar A A, Clemens S, Zachgo S and 3 more
Arabidopsis FUSCA5 encodes a novel phosphoprotein that is a component of the COP9 complex.
The Plant cell | 1999-05-01 | PMID 10330469
Karniol B, Malec P, Chamovitz D A
CHL1 is a dual-affinity nitrate transporter of Arabidopsis involved in multiple phases of nitrate uptake.
The Plant cell | 1999-05-01 | PMID 10330471
Liu K H, Huang C Y, Tsay Y F
Genes: CHL1
The sfr6 mutation in Arabidopsis suppresses low-temperature induction of genes dependent on the CRT/DRE sequence motif.
The Plant cell | 1999-05-01 | PMID 10330472
Knight H, Veale E L, Warren G J and 1 more
Feedback regulation of GA5 expression and metabolic engineering of gibberellin levels in Arabidopsis.
The Plant cell | 1999-05-01 | PMID 10330476
Xu Y L, Li L, Gage D A and 1 more
The S15 self-incompatibility haplotype in Brassica oleracea includes three S gene family members expressed in stigmas.
The Plant cell | 1999-05-01 | PMID 10330480
Cabrillac D, Delorme V, Garin J and 5 more
In vivo functional analysis of Drosophila Gap1: involvement of Ca2+ and IP4 regulation.
Mechanisms of development | 1999-03-01 | PMID 10330487
Powe A C, Strathdee D, Cutforth T and 5 more
Oligomerisation of Tube and Pelle leads to nuclear localisation of dorsal.
Mechanisms of development | 1999-03-01 | PMID 10330490
Grosshans J, Schnorrer F, Nüsslein-Volhard C
Transcriptional regulation of Xvent homeobox genes.
Mechanisms of development | 1999-03-01 | PMID 10330491
Rastegar S, Friedle H, Frommer G and 1 more
[Low level of variability of mitochondrial DNA in sea otter populations from Kamchatka and Komandor Islands].
Genetika | 1999-01-01 | PMID 10330607
Tul'skaia O L, Derenko M V, Maliarchuk B A
Early changes in murine epidermal cell phenotype by contact sensitizers.
Toxicological sciences : an official journal of the Society of Toxicology | 1999-03-01 | PMID 10330686
Coutant K D, Ulrich P, Thomas H and 2 more
Analysis of alphoid DNA variation and kinetochore size in human chromosome 21: evidence against pathological significance of alphoid satellite DNA diminutions.
TSitologiia i genetika | 2000-01-01 | PMID 10330695
Marzais B, Vorsanova S G, Roizes G and 1 more
[Gene instability induced by mobile genetic elements in Drosophila melanogaster].
TSitologiia i genetika | 2000-01-01 | PMID 10330697
Shcherbata H R, Maksymiv D V, Chernyk Ia I
Family-based association studies support a sexually dimorphic effect of COMT and MAOA on genetic susceptibility to obsessive-compulsive disorder.
Biological psychiatry | 1999-05-01 | PMID 10331110
Karayiorgou M, Sobin C, Blundell M L and 5 more
Genes: COMT, MAOA
Serotonin transporter gene (HTTLPR) is not in linkage disequilibrium with prepubertal and early adolescent bipolarity.
Biological psychiatry | 1999-05-01 | PMID 10331118
Geller B, Cook E H
Genes: CGAS
Negative association between type 1 diabetes and HLA DQB1*0602-DQA1*0102 is attenuated with age at onset. Swedish Childhood Diabetes Study Group.
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics | 2000-01-01 | PMID 10331157
Graham J, Kockum I, Sanjeevi C B and 13 more
Distributions of HLA-DRB1/DQB1 alleles and haplotypes in the north-eastern Thai population: indicative of a distinct Thai population with Chinese admixtures in the central Thais.
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics | 2000-01-01 | PMID 10331158
Romphruk A V, Puapairoj C, Romphruk A and 3 more
Definition of new alleles of MIC-A using sequencing-based typing.
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics | 2000-01-01 | PMID 10331160
Yao Z, Volgger A, Helmberg W and 4 more
Evolution of class I alcohol dehydrogenase genes in catarrhine primates: gene conversion, substitution rates, and gene regulation.
Molecular biology and evolution | 1999-01-01 | PMID 10331249
Cheung B, Holmes R S, Easteal S and 1 more
A simple method for estimating the intensity of purifying selection in protein-coding genes.
Molecular biology and evolution | 1999-01-01 | PMID 10331251
Ophir R, Itoh T, Graur D and 1 more
Mobilization of two retroelements, ZAM and Idefix, in a novel unstable line of Drosophila melanogaster.
Molecular biology and evolution | 1999-01-01 | PMID 10331252
Desset S, Conte C, Dimitri P and 3 more
Molecular systematics of cytochrome oxidase I and 16S from Neochlamisus leaf beetles and the importance of sampling.
Molecular biology and evolution | 1999-01-01 | PMID 10331253
Funk D J
Evidence for genetic drift in endosymbionts (Buchnera): analyses of protein-coding genes.
Molecular biology and evolution | 1999-01-01 | PMID 10331254
Wernegreen J J, Moran N A
The diversification of plant cytosolic small heat shock proteins preceded the divergence of mosses.
Molecular biology and evolution | 1999-01-01 | PMID 10331257
Waters E R, Vierling E
Partial sweeping of variation at the Fbp2 locus in a west African population of Drosophila melanogaster.
Molecular biology and evolution | 1999-03-01 | PMID 10331261
Bénassi V, Depaulis F, Meghlaoui G K and 1 more
Incongruence in the diploid B-genome species complex of Glycine (Leguminosae) revisited: histone H3-D alleles versus chloroplast haplotypes.
Molecular biology and evolution | 1999-03-01 | PMID 10331262
Doyle J J, Doyle J L, Brown A H
Parallel evolution of drug resistance in HIV: failure of nonsynonymous/synonymous substitution rate ratio to detect selection.
Molecular biology and evolution | 1999-03-01 | PMID 10331263
Crandall K A, Kelsey C R, Imamichi H and 2 more
Glyceraldehyde-3-phosphate dehydrogenase gene diversity in eubacteria and eukaryotes: evidence for intra- and inter-kingdom gene transfer.
Molecular biology and evolution | 1999-04-01 | PMID 10331270
Figge R M, Schubert M, Brinkmann H and 1 more
Genes: GAPDH
A new genetic distance with application to constrained variation at microsatellite loci.
Molecular biology and evolution | 1999-04-01 | PMID 10331272
Zhivotovsky L A
Concerted evolution of two Mhc class II B loci in pheasants and domestic chickens.
Molecular biology and evolution | 1999-04-01 | PMID 10331274
Wittzell H, Bernot A, Auffray C and 1 more
Genes: DAB1, DAB2
Low levels of nucleotide diversity at homoeologous Adh loci in allotetraploid cotton (Gossypium L.).
Molecular biology and evolution | 1999-04-01 | PMID 10331275
Small R L, Ryburn J A, Wendel J F
Assessing genetic structure with multiple classes of molecular markers: a case study involving the introduced fire ant Solenopsis invicta.
Molecular biology and evolution | 1999-04-01 | PMID 10331278
Ross K G, Shoemaker D D, Krieger M J and 2 more
Characterization of homeodomain-leucine zipper genes in the fern Ceratopteris richardii and the evolution of the homeodomain-leucine zipper gene family in vascular plants.
Molecular biology and evolution | 1999-04-01 | PMID 10331279
Aso K, Kato M, Banks J A and 1 more
Hybridizing Old and New World camelids: Camelus dromedarius x Lama guanicoe.
Proceedings. Biological sciences | 1999-04-07 | PMID 10331286
Skidmore J A, Billah M, Binns M and 2 more
Estimating population size by genotyping faeces.
Proceedings. Biological sciences | 1999-04-07 | PMID 10331287
Kohn M H, York E C, Kamradt D A and 3 more
Sustained proliferation of PDX-1+ cells derived from human islets.
Diabetes | 1999-05-01 | PMID 10331405
Beattie G M, Itkin-Ansari P, Cirulli V and 6 more
Effects of overexpression of human GLUT4 gene on maternal diabetes and fetal growth in spontaneous gestational diabetic C57BLKS/J Lepr(db/+) mice.
Diabetes | 1999-05-01 | PMID 10331411
Ishizuka T, Klepcyk P, Liu S and 4 more
Functional study of the E276Q mutant hepatocyte nuclear factor-4alpha found in type 1 maturity-onset diabetes of the young: impaired synergy with chicken ovalbumin upstream promoter transcription factor II on the hepatocyte nuclear factor-1 promoter.
Diabetes | 1999-05-01 | PMID 10331424
Suaud L, Hemimou Y, Formstecher P and 1 more
A genome-wide search for type 2 diabetes susceptibility genes in Utah Caucasians.
Diabetes | 1999-05-01 | PMID 10331426
Elbein S C, Hoffman M D, Teng K and 2 more
Genes: APOA2, CRP, NPL
Genetic analysis of obese diabetes in the TSOD mouse.
Diabetes | 1999-05-01 | PMID 10331427
Hirayama I, Yi Z, Izumi S and 6 more
Phenotypic characteristics of human immunodeficiency virus type 1 subtype C isolates of Ethiopian AIDS patients.
AIDS research and human retroviruses | 1999-05-01 | PMID 10331443
Björndal A, Sönnerborg A, Tscherning C and 2 more
Genes: CCR5, CXCR4, CCR3, GPR15
Genetic heterogeneity of HIV type 1 subtypes in Kimpese, rural Democratic Republic of Congo.
AIDS research and human retroviruses | 1999-05-01 | PMID 10331444
Mokili J L, Wade C M, Burns S M and 5 more
Spontaneous erythroid colony formation in Brazilian patients with sickle cell disease.
American journal of hematology | 1999-05-01 | PMID 10331510
Perlingeiro R C, Costa F F, Saad S T and 2 more
Genes: SCD
Utilization of developmental basic science principles in the evaluation of reproductive risks from pre- and postconception environmental radiation exposures.
Teratology | 1999-04-01 | PMID 10331519
Brent R L
Life cycle of the mammalian germ cell: implication for spontaneous mutation frequencies.
Teratology | 1999-04-01 | PMID 10331520
Lewis S E
Interpretation of phenotype in genetically engineered mice.
Laboratory animal science | 1999-04-01 | PMID 10331542
Doetschman T
Auditory brainstem responses in Golden Syrian hamsters (Mesocricetus auratus) affected with the Wh gene.
Laboratory animal science | 1999-04-01 | PMID 10331547
Amedofu G K, Gopal K V, Asher J H and 2 more
Monitoring antibody titers to recombinant Core-NS3 fusion polypeptide is useful for evaluating hepatitis C virus infection and responses to interferon-alpha therapy.
Journal of Korean medical science | 1999-04-01 | PMID 10331562
Park Y M, Byun B H, Choi J Y and 4 more
Role of p53 gene mutation in tumor aggressiveness of intracranial meningiomas.
Journal of Korean medical science | 1999-04-01 | PMID 10331568
Cho H, Ha S Y, Park S H and 2 more
Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: incidence, genetic variation, and stability.
American journal of medical genetics | 1999-05-28 | PMID 10331587
Patsalis P C, Sismani C, Hettinger J A and 7 more
Genes: FMR1
Frequency of the fragile X syndrome in Chinese mentally retarded populations is similar to that in Caucasians.
American journal of medical genetics | 1999-05-28 | PMID 10331588
Zhong N, Ju W, Xu W and 16 more
Genes: FMR1
Fully mutated and gray-zone FRAXA alleles in Brazilian mentally retarded boys.
American journal of medical genetics | 1999-05-28 | PMID 10331590
Haddad L A, Aguiar M J, Costa S S and 3 more
DXS548/FRAXAC1 haplotypes in fragile X chromosomes in the Brazilian population.
American journal of medical genetics | 1999-05-28 | PMID 10331592
Mingroni-Netto R C, Costa S S, Angeli C B and 1 more
FRAXAC1 and DXS548 polymorphisms in the Chinese population.
American journal of medical genetics | 1999-05-28 | PMID 10331593
Poon P M, Pang C P, Chen Q L and 5 more
Genes: FMR1
Haplotype analysis of the fragile X syndrome gene FMR1 in the Czech Republic.
American journal of medical genetics | 1999-05-28 | PMID 10331594
Pekarík V, Blazková M, Kozák L
Genes: FMR1
Genetic variation and intergenerational FMR1 CGG-repeat stability in 100 unrelated three-generation families from the normal population.
American journal of medical genetics | 1999-05-28 | PMID 10331595
Patsalis P C, Sismani C, Stylianou S and 5 more
Genes: FMR1
Mosaicism for a full mutation and a normal size allele in two fragile X males.
American journal of medical genetics | 1999-05-28 | PMID 10331596
Schmucker B, Seidel J
Genes: FMR1
Tissue heterogeneity of the FMR1 mutation in a high-functioning male with fragile X syndrome.
American journal of medical genetics | 1999-05-28 | PMID 10331599
Taylor A K, Tassone F, Dyer P N and 4 more
Genes: FMR1
Strong similarities of the FMR1 mutation in multiple tissues: postmortem studies of a male with a full mutation and a male carrier of a premutation.
American journal of medical genetics | 1999-05-28 | PMID 10331600
Tassone F, Hagerman R J, Gane L W and 1 more
Genes: FMR1
Postmortem examination of two fragile X brothers with an FMR1 full mutation.
American journal of medical genetics | 1999-05-28 | PMID 10331601
Reyniers E, Martin J J, Cras P and 6 more
Genes: FMR1
FMRP expression as a potential prognostic indicator in fragile X syndrome.
American journal of medical genetics | 1999-05-28 | PMID 10331602
Tassone F, Hagerman R J, Iklé D N and 5 more
Genes: FMR1
Possible founder effects for FRAXE alleles.
American journal of medical genetics | 1999-05-28 | PMID 10331609
Limprasert P, Zhong N, Currie J R and 1 more
Premature ovarian failure (POF) and fragile X premutation females: from POF to to fragile X carrier identification, from fragile X carrier diagnosis to POF association data.
American journal of medical genetics | 1999-05-28 | PMID 10331612
Uzielli M L, Guarducci S, Lapi E and 9 more
Fragile X premutations and (TA)n estrogen receptor polymorphism in women with ovarian dysfunction.
American journal of medical genetics | 1999-05-28 | PMID 10331614
Syrrou M, Georgiou I, Patsalis P C and 3 more
Genes: FMR1
Molecular heterogeneity and regulation of poly(ADP-ribose) glycohydrolase.
Molecular and cellular biochemistry | 1999-03-01 | PMID 10331641
Amé J C, Jacobson E L, Jacobson M K
Genes: PARG
CD36 mediates long-chain fatty acid transport in human myocardium: complete myocardial accumulation defect of radiolabeled long-chain fatty acid analog in subjects with CD36 deficiency.
Molecular and cellular biochemistry | 1999-02-01 | PMID 10331667
Nozaki S, Tanaka T, Yamashita S and 15 more
The third leg: molecular dynamics simulations of lipid binding proteins.
Molecular and cellular biochemistry | 1999-02-01 | PMID 10331669
Woolf T B, Tychko M
A 10-year study of mortality in a cohort of patients with myotonic dystrophy.
Neurology | 1999-05-12 | PMID 10331695
Mathieu J, Allard P, Potvin L and 2 more
Analysis of oncogene, tumor suppressor gene, and chromosomal alterations in HeLa x osteosarcoma somatic cell hybrids.
Molecular carcinogenesis | 1999-05-01 | PMID 10331742
Isfort R J, Cody D B, Lovell G J and 3 more
Rare mutations of p53, Ki-ras, and beta-catenin genes and absence of K-sam and c-erbB-2 amplification in N-methyl-N'-nitro-N-nitrosoguanidine-induced rat stomach cancers.
Molecular carcinogenesis | 1999-05-01 | PMID 10331743
Hirayama Y, Wakazono K, Yamamoto M and 5 more
Expression of aberrant functional and nonfunctional transcripts of the FHIT gene in Burkitt's lymphomas.
Molecular carcinogenesis | 1999-05-01 | PMID 10331745
Ferrer M, López-Borges S, Lazo P A
Genes: FHIT
Involvement of mutations in the DPC4 promoter in endometrial carcinoma development.
Molecular carcinogenesis | 1999-05-01 | PMID 10331746
Zhou Y, Kato H, Shan D and 6 more
Structural basis of autoregulation of phenylalanine hydroxylase.
Nature structural biology | 1999-05-01 | PMID 10331871
Kobe B, Jennings I G, House C M and 6 more
Apolipoprotein E polymorphism and the relationships of physical fitness to plasma lipoprotein-lipid levels in men and women.
Medicine and science in sports and exercise | 1999-05-01 | PMID 10331889
St-Amand J, Prud'homme D, Moorjani S and 5 more
Antibiotic resistance mechanisms of Helicobacter pylori.
Canadian journal of gastroenterology = Journal canadien de gastroenterologie | 1999-04-01 | PMID 10331936
Hoffman P S
Determinants of ethnic or geographical differences in infectivity and transmissibility of Helicobacter pylori.
Canadian journal of gastroenterology = Journal canadien de gastroenterologie | 1999-04-01 | PMID 10331937
Fallone C A
Acquisition of the H19 methylation imprint occurs differentially on the parental alleles during spermatogenesis.
Genomics | 1999-05-15 | PMID 10331941
Davis T L, Trasler J M, Moss S B and 2 more
Bestrophin gene mutations in patients with Best vitelliform macular dystrophy.
Genomics | 1999-05-15 | PMID 10331951
Caldwell G M, Kakuk L E, Griesinger I B and 8 more
Hedgehog activates the EGF receptor pathway during Drosophila head development.
Development (Cambridge, England) | 1999-06-01 | PMID 10331974
Amin A, Li Y, Finkelstein R
Genes: EGFR, EGF
The mammalian Tolloid-like 1 gene, Tll1, is necessary for normal septation and positioning of the heart.
Development (Cambridge, England) | 1999-06-01 | PMID 10331975
Clark T G, Conway S J, Scott I C and 5 more
Cell-autonomous and non-autonomous requirements for the zebrafish gene cloche in hematopoiesis.
Development (Cambridge, England) | 1999-06-01 | PMID 10331976
Parker L, Stainier D Y
rhomboid and Star interact synergistically to promote EGFR/MAPK signaling during Drosophila wing vein development.
Development (Cambridge, England) | 1999-06-01 | PMID 10331978
Guichard A, Biehs B, Sturtevant M A and 4 more
Genes: EGFR, EGF