Modeling methylation and IQ scores in fragile X females and mosaic males.
American journal of medical genetics | 1994-07-15 | PMID 7942995
Kolehmainen K, Karant Y
Genes: FMR1
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 519 of 10600
Reliability of diagnostic assessment of normal and premutation status in the fragile X syndrome using DNA testing.
American journal of medical genetics | 1994-07-15 | PMID 7942996
Fisch G S, Nelson D L, Snow K and 3 more
Is fragile X syndrome a pervasive developmental disability? Cognitive ability and adaptive behavior in males with the full mutation.
American journal of medical genetics | 1994-07-15 | PMID 7942997
Fisch G S, Holden J J, Simensen R and 6 more
Longitudinal changes in IQ among fragile X females: a preliminary multicenter analysis.
American journal of medical genetics | 1994-07-15 | PMID 7942998
Fisch G S, Simensen R, Arinami T and 2 more
Emotional and neurocognitive deficits in fragile X.
American journal of medical genetics | 1994-07-15 | PMID 7943003
Sobesky W E, Pennington B F, Porter D and 2 more
Behavioural and emotional disturbance in fragile X syndrome.
American journal of medical genetics | 1994-07-15 | PMID 7943004
Einfeld S L, Tonge B J, Florio T
Transmitting males and carrier females in fragile X--revisited.
American journal of medical genetics | 1994-07-15 | PMID 7943005
Loesch D Z, Hay D A, Mulley J
Genes: FMR1
Obstetrical and gynecological complications in fragile X carriers: a multicenter study.
American journal of medical genetics | 1994-07-15 | PMID 7943006
Schwartz C E, Dean J, Howard-Peebles P N and 7 more
Genes: FMR1
Fragile X founder chromosome effects: linkage disequilibrium or microsatellite heterogeneity?
American journal of medical genetics | 1994-07-15 | PMID 7943008
Zhong N, Ye L, Dobkin C and 1 more
Distribution of FMR-1 and associated microsatellite alleles in a normal Chinese population.
American journal of medical genetics | 1994-07-15 | PMID 7943010
Zhong N, Liu X, Gou S and 4 more
Population genetics of fragile X: a multiple allele model with variable risk of CGG repeat expansion.
American journal of medical genetics | 1994-07-15 | PMID 7943012
Kolehmainen K
Fragile X induction systems in CVS cultures: effect on cytogenetic, PCR, and genomic Southern Blot DNA analyses of the FMR-1 gene.
American journal of medical genetics | 1994-07-15 | PMID 7943013
Jenkins E C, Morys I, Henderson J and 7 more
Relationship of expansion of CGG repeats and X-inactivation with expression of fra(X)(q27.3) in heterozygotes.
American journal of medical genetics | 1994-07-15 | PMID 7943014
Mingroni-Netto R C, Fernandes J G, Vianna-Morgante A M
Genes: FMR1
Butyrate and acetyl-carnitine inhibit the cytogenetic expression of the fragile X in vitro.
American journal of medical genetics | 1994-07-15 | PMID 7943015
Pomponi M G, Neri G
Genes: FMR1
Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region.
American journal of medical genetics | 1994-07-15 | PMID 7943018
Trottier Y, Imbert G, Poustka A and 2 more
Genes: FMR1
Direct mutation analysis of 495 patients for fragile X carrier status/proband diagnosis.
American journal of medical genetics | 1994-07-15 | PMID 7943028
Kaplan G, Kung M, McClure M and 1 more
Characteristics of the transmission of the FMR1 gene from carrier females in a prospective sample of conceptuses.
American journal of medical genetics | 1994-07-15 | PMID 7943029
Sherman S L, Maddalena A, Howard-Peebles P N and 7 more
Genes: FMR1
Asymmetry of methylation with FMR-1 full mutation in two 45,X/46,XX mosaic females associated with normal intellect.
American journal of medical genetics | 1994-07-15 | PMID 7943030
Shapiro L R, Simensen R J, Wilmot P L and 5 more
Mosaicism in fragile X affected males.
American journal of medical genetics | 1994-07-15 | PMID 7943031
Nolin S L, Glicksman A, Houck G E and 2 more
Improved sizing of fragile X CCG repeats by nested polymerase chain reaction.
American journal of medical genetics | 1994-07-15 | PMID 7943035
Levinson G, Maddalena A, Palmer F T and 5 more
The use of polymerase chain reaction to determine fetal RhD status.
American journal of obstetrics and gynecology | 1994-10-01 | PMID 7943068
Rossiter J P, Blakemore K J, Kickler T S and 5 more
Lymphoproliferative disease in mice infected with murine gammaherpesvirus 68.
The American journal of pathology | 1994-10-01 | PMID 7943173
Sunil-Chandra N P, Arno J, Fazakerley J and 1 more
Analysis of proliferating cell nuclear antigen expression aids histological diagnosis and is predictive of progression of human cardiac allograft rejection.
The American journal of pathology | 1994-10-01 | PMID 7943178
Salom R N, Maguire J A, Esmore D and 1 more
Genes: EMB, UCHL1
Evidence for a sustained genetic effect on fat storage capacity in cultured adipose cells from Zucker rats.
The American journal of physiology | 1994-09-01 | PMID 7943224
Briquet-Laugier V, Dugail I, Ardouin B and 3 more
Genes: LPL
Immunodeficiency-associated malignant lymphoma. Three cases showing genotypic evidence of both T- and B-cell lineages.
The American journal of surgical pathology | 1994-11-01 | PMID 7943530
Hollingsworth H C, Stetler-Stevenson M, Gagneten D and 3 more
Inheritance of oral susceptibility of Aedes aegypti to Chikungunya virus.
The American journal of tropical medicine and hygiene | 1994-09-01 | PMID 7943547
Mourya D T, Gokhale M D, Malunjkar A S and 2 more
Allele frequencies of the preproenkephalin A (PENK) gene CA repeat in Asians, African-Americans, and Caucasians: lack of evidence for different allele frequencies in alcoholics.
Alcoholism, clinical and experimental research | 1994-06-01 | PMID 7943650
Chan R J, McBride A W, Thomasson H R and 2 more
Genes: PENK
Indexing withdrawal in mice: matching genotypes for exposure in studies using ethanol vapor inhalation.
Alcoholism, clinical and experimental research | 1994-06-01 | PMID 7943652
Terdal E S, Crabbe J C
Low frequency of the ADH2*2 allele among Atayal natives of Taiwan with alcohol use disorders.
Alcoholism, clinical and experimental research | 1994-06-01 | PMID 7943668
Thomasson H R, Crabb D W, Edenberg H J and 5 more
Genes: ALDH2
Correlations of alcohol consumption with related covariates and heritability estimates in older adult males over a 14- to 18-year period: the NHLBI Twin Study.
Alcoholism, clinical and experimental research | 1994-06-01 | PMID 7943679
Reed T, Slemenda C W, Viken R J and 3 more
Mutations conferring new patterns of sensitivity to volatile anesthetics in Caenorhabditis elegans.
Anesthesiology | 1994-10-01 | PMID 7943840
Morgan P G, Sedensky M M
Cloning, sequencing and restriction fragment length polymorphism analysis of a porcine cDNA for OCT2.
Animal genetics | 1994-06-01 | PMID 7943947
Tuggle C K, Helm J, Rothschild M F
A study of variability in the MHC class II beta 1 and class I alpha 2 domain exons of Atlantic salmon, Salmo salar L.
Animal genetics | 1994-06-01 | PMID 7943948
Grimholt U, Olsaker I, de Vries Lindstrøm C and 1 more
BoLA class I charge heterogeneity reflects the expression of more than two loci.
Animal genetics | 1994-06-01 | PMID 7943950
al-Murrani S W, Glass E J, Hopkins J
Biochemical and genetic analysis of variant C of caprine alpha s2-casein (Capra hircus).
Animal genetics | 1994-06-01 | PMID 7943951
Bouniol C, Brignon G, Mahé M F and 1 more
PCR-RFLP typing of the bovine myoglobin gene.
Animal genetics | 1994-06-01 | PMID 7943954
Agaba M, Kemp S J
Genetic variants of ribosomal DNA and mitochondrial DNA between swamp and river buffaloes.
Animal genetics | 1994-06-01 | PMID 7943981
Amano T, Miyakoshi Y, Takada T and 2 more
The effectiveness of using co-dominant polymorphic allelic series for (1) checking pedigrees and (2) distinguishing full-sib pair members.
Animal genetics | 1994-06-01 | PMID 7943982
Jamieson A
Co-segregation of the malignant hyperthermia and the Arg615-Cys615 mutation in the skeletal muscle calcium release channel protein in five European Landrace and Pietrain pig breeds.
Animal genetics | 1994-06-01 | PMID 7943985
Vögeli P, Bolt R, Fries R and 1 more
Genes: RYR1, GPI, PGD
Population genetics of Great Basin feral horses.
Animal genetics | 1994-06-01 | PMID 7943986
Bowling A T
Studies on the frequency and associations of equine leucocyte antigens in sarcoid and summer dermatitis.
Animal genetics | 1994-06-01 | PMID 7943987
Lazary S, Marti E, Szalai G and 2 more
Restriction fragment length polymorphism (RFLP) of exon 2 of the MhcBibi-DRB3 gene in American bison (Bison bison).
Animal genetics | 1994-06-01 | PMID 7943990
Morris B G, Spencer M C, Stabile S and 1 more
The porcine M blood group system: evidence to suggest assignment of its M1 factor to a new system (P).
Animal genetics | 1994-06-01 | PMID 7943992
Hojný J, Schröffel J, Geldermann H and 1 more
The genetics of colorectal carcinoma.
Annals of clinical and laboratory science | 2000-01-01 | PMID 7944266
Kane K
Multislice proton magnetic resonance spectroscopic imaging in X-linked adrenoleukodystrophy.
Annals of neurology | 1994-10-01 | PMID 7944292
Kruse B, Barker P B, van Zijl P C and 3 more
Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies.
Annals of neurology | 1994-10-01 | PMID 7944298
Mariman E C, Gabreëls-Festen A A, van Beersum S E and 6 more
Dose-dependent association of apolipoprotein E allele epsilon 4 with late-onset, sporadic Alzheimer's disease.
Annals of neurology | 1994-10-01 | PMID 7944299
Yoshizawa T, Yamakawa-Kobayashi K, Komatsuzaki Y and 5 more
Catalytic activity of anti-ground state antibodies, antibody subunits, and human autoantibodies.
Applied biochemistry and biotechnology | 2000-01-01 | PMID 7944341
Paul S
Genes: VIP
Immune recognition, antigen design, and catalytic antibody production.
Applied biochemistry and biotechnology | 2000-01-01 | PMID 7944342
Tramontano A
Nucleotide sequence variation of chitin synthase genes among ectomycorrhizal fungi and its potential use in taxonomy.
Applied and environmental microbiology | 1994-09-01 | PMID 7944356
Mehmann B, Brunner I, Braus G H
Regulation of the production of extracellular pectinase, cellulase, and protease in the soft rot bacterium Erwinia carotovora subsp. carotovora: evidence that aepH of E. carotovora subsp. carotovora 71 activates gene expression in E. carotovora subsp. carotovora, E. carotovora subsp. atroseptica, and Escherichia coli.
Applied and environmental microbiology | 1994-09-01 | PMID 7944360
Murata H, Chatterjee A, Liu Y and 1 more
Cyanobacterial community structure as seen from RNA polymerase gene sequence analysis.
Applied and environmental microbiology | 1994-09-01 | PMID 7944363
Palenik B
Purification and characterization of S1 mutants of alpha-lytic protease having altered catalytic properties.
Archives of biochemistry and biophysics | 1994-10-01 | PMID 7944385
Haggett K D, Graham L D, Milner S J and 1 more
[Genetic characteristics of scirrhous gastric carcinomas].
Gan to kagaku ryoho. Cancer & chemotherapy | 1994-10-01 | PMID 7944479
Yokozaki H, Kuniyasu H, Yasui W and 1 more
Genes: HGF
ALDH2 polymorphism and biological monitoring of toluene.
Archives of environmental health | 2000-01-01 | PMID 7944563
Kawamoto T, Matsuno K, Kodama Y and 2 more
Genes: ALDH2
Allelic variation in the D4 dopamine receptor (DRD4) gene does not predict response to clozapine.
Archives of general psychiatry | 1994-11-01 | PMID 7944879
Rao P A, Pickar D, Gejman P V and 3 more
Genes: DRD4
Identification of mutation sites of a temperature-sensitive mutant of HCMV DNA polymerase activity.
Archives of virology | 1994-01-01 | PMID 7944949
Ihara S, Takekoshi M, Mori N and 3 more
Mapping of transcriptional regulatory domains of pseudorabies virus immediate-early protein.
Archives of virology | 1994-01-01 | PMID 7944951
Taharaguchi S, Inoue H, Ono E and 3 more
Genes: CAT
Loss of active neuroinvasiveness in attenuated strains of West Nile virus: pathogenicity in immunocompetent and SCID mice.
Archives of virology | 1994-01-01 | PMID 7944955
Halevy M, Akov Y, Ben-Nathan D and 3 more
Genes: SDS
[The phenotypes of arterial smooth-muscle cells during ontogeny and in atherosclerotic plaques].
Arkhiv patologii | 2000-01-01 | PMID 7944967
Shekhonin B V, Frid M G, Tararak E M
A molecular genetic study of intracerebral hemorrhage.
Archives of neurology | 1994-10-01 | PMID 7945009
Graffagnino C, Herbstreith M H, Roses A D and 1 more
The power of the classical twin study to resolve variation in threshold traits.
Behavior genetics | 1994-05-01 | PMID 7945154
Neale M C, Eaves L J, Kendler K S
A simple algebraic demonstration of the validity of DeFries-Fulker analysis in unselected samples with multiple kinship levels.
Behavior genetics | 1994-05-01 | PMID 7945155
Rodgers J L, McGue M
Analyses of truncated fibrillin caused by a 366 bp deletion in the FBN1 gene resulting in Marfan syndrome.
The Biochemical journal | 1994-09-15 | PMID 7945217
Raghunath M, Kielty C M, Kainulainen K and 3 more
Genes: FBN1, SDS
The palmitoylation status of the G-protein G(o)1 alpha regulates its activity of interaction with the plasma membrane.
The Biochemical journal | 1994-09-15 | PMID 7945220
Grassie M A, McCallum J F, Guzzi F and 3 more
Prevention of C-terminal autoprocessing of Lactococcus lactis SK11 cell-envelope proteinase by engineering of an essential surface loop.
The Biochemical journal | 1994-09-15 | PMID 7945226
Bruinenberg P G, de Vos W M, Siezen R J
Heterogeneity of vacuolar H(+)-ATPase: differential expression of two human subunit B isoforms.
The Biochemical journal | 1994-10-01 | PMID 7945239
van Hille B, Richener H, Schmid P and 3 more
Plasma-membrane calcium-pump isoforms in human and rat liver.
The Biochemical journal | 1994-10-01 | PMID 7945253
Howard A, Barley N F, Legon S and 1 more
Sulphated and undersulphated heparan sulphate proteoglycans in a Chinese hamster ovary cell mutant defective in N-sulphotransferase.
The Biochemical journal | 1994-10-01 | PMID 7945269
Bame K J, Zhang L, David G and 1 more
Heterogeneity and diversity of IgM and IgG lupus anticoagulants in an individual with systemic lupus erythematosus.
Biochemical and biophysical research communications | 1994-09-30 | PMID 7945329
Nakamura N, Azuma C, Akamizu T and 6 more
Cloning and sequencing of the gene for the lactose carrier of Citrobacter freundii.
Biochemical and biophysical research communications | 1994-09-30 | PMID 7945341
Lee J I, Okazaki N, Tsuchiya T and 1 more
Inhibition of 3T3 adipogenesis by retinoic acid is not mediated by cytoplasmic retinoic acid-binding protein.
Biochemical and biophysical research communications | 1994-10-14 | PMID 7945368
Salazar-Olivo L A, Castro-Muñozledo F, de la Garza M and 1 more
Hepatobiliary elimination of the peroxisome proliferator nafenopin by conjugation and subsequent ATP-dependent transport across the canalicular membrane.
Biochemical pharmacology | 1994-09-15 | PMID 7945404
Jedlitschky G, Leier I, Böhme M and 3 more
Suppression of H-ras-mediated transformation in NIH3T3 cells by a ras ribozyme.
Biochemical pharmacology | 1994-10-07 | PMID 7945447
Funato T, Shitara T, Tone T and 3 more
Characteristics of HPRT-mutant T cell lines in a lupus patient treated with cyclophosphamide.
Arthritis and rheumatism | 1994-10-01 | PMID 7945481
Wood G M, Dawisha S, Gourley M
Transgenic animal models for measuring mutations in vivo.
Critical reviews in toxicology | 1994-01-01 | PMID 7945893
Mirsalis J C, Monforte J A, Winegar R A
Influence of a mutation in the transmembrane domain of the p185c-erbB2 oncogene-encoded protein studied by molecular dynamics simulations.
Journal of biomolecular structure & dynamics | 1994-04-01 | PMID 7946067
Garnier N, Genest D, Hebert E and 1 more
Comparison of in vivo plasma and peripheral blood mononuclear cell HIV-1 quasi-species to short-term tissue culture isolates: an analysis of tat and C2-V3 env regions.
AIDS (London, England) | 1994-07-01 | PMID 7946099
Sabino E, Pan L Z, Cheng-Mayer C and 1 more
[Phenotypic characterization and distribution of Yersinia in human and environmental samples].
Microbiologia (Madrid, Spain) | 2000-01-01 | PMID 7946129
Javier Castillo F, Larraz V, Asunción Lafarga M and 2 more
Analysis of two variants of the angiotensinogen gene in essential hypertensive African-Americans.
American journal of hypertension | 1994-07-01 | PMID 7946168
Rutledge D R, Browe C S, Kubilis P S and 1 more
Effects of three treatment modes on plasma lipids and lipoproteins in uraemic patients.
Annals of medicine | 1994-08-01 | PMID 7946245
Hörkkö S, Huttunen K, Läärä E and 2 more
The spastic mouse: aberrant splicing of glycine receptor beta subunit mRNA caused by intronic insertion of L1 element.
Neuron | 1994-10-01 | PMID 7946325
Mülhardt C, Fischer M, Gass P and 5 more
The Drosophila tumor suppressor gene dlg is required for normal synaptic bouton structure.
Neuron | 1994-10-01 | PMID 7946331
Lahey T, Gorczyca M, Jia X X and 1 more
Genes: PSD
Presynaptic dysfunction in Drosophila csp mutants.
Neuron | 1994-10-01 | PMID 7946336
Umbach J A, Zinsmaier K E, Eberle K K and 3 more
A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease.
Neuron | 1994-10-01 | PMID 7946341
Lee M K, Marszalek J R, Cleveland D W
Isolation of the gene for the beta subunit of RNA polymerase from rifampicin-resistant Mycobacterium tuberculosis and identification of new mutations.
American journal of respiratory cell and molecular biology | 1994-12-01 | PMID 7946393
Donnabella V, Martiniuk F, Kinney D and 4 more
Differential expression of SUC genes: a question of bases.
FEMS microbiology reviews | 1994-09-01 | PMID 7946463
Gozalbo D, del Castillo Agudo L
Glutathione deficiency does not elevate susceptibility of bacteria to the mutagenicity of chlorinated humic acids.
Human & experimental toxicology | 1994-08-01 | PMID 7946511
Ubom G A, Chipman J K, Hayes M H
Transthyretin (prealbumin) in health and disease: nutritional implications.
Annual review of nutrition | 1994-01-01 | PMID 7946531
Ingenbleek Y, Young V
Genes: TTR, CRP
Evidence against involvement of APC mutation in papillary thyroid carcinoma.
European journal of cancer (Oxford, England : 1990) | 1994-01-01 | PMID 7946597
Curtis L, Wyllie A H, Shaw J J and 7 more
Genes: APC, FAP
Polymorphism of the complement components in human pathology.
Annali italiani di medicina interna : organo ufficiale della Societa italiana di medicina interna | 2000-01-01 | PMID 7946894
Brai M, Accardo P, Bellavia D
Thiopurine methyltransferase activity in a French population: h.p.l.c. assay conditions and effects of drugs and inhibitors.
British journal of clinical pharmacology | 1994-07-01 | PMID 7946931
Jacqz-Aigrain E, Bessa E, Medard Y and 2 more
Genes: TPMT
Inhibition of CYP2D6 activity by treatment with propranolol and the role of 4-hydroxy propranolol.
British journal of clinical pharmacology | 1994-07-01 | PMID 7946944
Rowland K, Yeo W W, Ellis S W and 6 more
Detection of the anti-p53 antibody response in malignant and benign pancreatic disease.
British journal of cancer | 1994-11-01 | PMID 7947080
Marxsen J, Schmiegel W, Röder C and 5 more
Frequency of allele loss of DCC, p53, RBI, WT1, NF1, NM23 and APC/MCC in colorectal cancer assayed by fluorescent multiplex polymerase chain reaction.
British journal of cancer | 1994-11-01 | PMID 7947085
Cawkwell L, Lewis F A, Quirke P
Genes: APC, DCC, MCC
Loss of heterozygosity on chromosome 22 in ovarian carcinoma is distal to and is not accompanied by mutations in NF2 at 22q12.
British journal of cancer | 1994-11-01 | PMID 7947096
Englefield P, Foulkes W D, Campbell I G
Etoposide-induced cell cycle delay and arrest-dependent modulation of DNA topoisomerase II in small-cell lung cancer cells.
British journal of cancer | 1994-11-01 | PMID 7947097
Smith P J, Souès S, Gottlieb T and 4 more
The effect of 5-fluorouracil and alpha interferon and 5-fluorouracil and leucovorin on cellular anti-tumour immune responses in patients with advanced colorectal cancer.
British journal of cancer | 1994-11-01 | PMID 7947102
Nichols P H, Ward U, Ramsden C W and 1 more
Severe neurological abnormalities associated with a mutation in the zinc-finger domain in a group A xeroderma pigmentosum patient.
The British journal of dermatology | 1994-10-01 | PMID 7947212
Maeda T, Sato K, Minami H and 2 more
Osteogenesis imperfecta: from phenotype to genotype and back again.
International journal of experimental pathology | 1994-08-01 | PMID 7947227
Smith R