Mutation analysis of UBE3A in Angelman syndrome patients.
American journal of human genetics | 1998-06-01 | PMID 9585605
Malzac P, Webber H, Moncla A and 7 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 984 of 10600
Predisposing gene for early-onset prostate cancer, localized on chromosome 1q42.2-43.
American journal of human genetics | 1998-06-01 | PMID 9585607
Berthon P, Valeri A, Cohen-Akenine A and 22 more
Genes: NPL
Genotype-phenotype correlations in attenuated adenomatous polyposis coli.
American journal of human genetics | 1998-06-01 | PMID 9585611
Soravia C, Berk T, Madlensky L and 5 more
Genes: APC, FAP
Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study.
American journal of human genetics | 1998-06-01 | PMID 9585613
Neuhausen S L, Godwin A K, Gershoni-Baruch R and 27 more
Genes: BRCA2, BRCA1
Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH).
American journal of human genetics | 1998-06-01 | PMID 9585615
Thöny B, Neuheiser F, Kierat L and 6 more
Polymorphisms of the apolipoprotein B 3' variable number of tandem repeats region associated with coronary artery disease in Taiwanese.
Journal of the Formosan Medical Association = Taiwan yi zhi | 1998-04-01 | PMID 9585673
Pan J P, Chiang A N, Chou C Y and 2 more
Genes: CAD
Allogeneic peripheral blood stem cell transplantation and early detection of donor engraftment by polymerase chain reaction.
Journal of the Formosan Medical Association = Taiwan yi zhi | 1998-04-01 | PMID 9585676
Tzeng C H, Lyou J Y, Lin J S and 5 more
Genetic polymorphism of the hepatic cytochrome P450 2C19 in north Indian subjects.
Clinical pharmacology and therapeutics | 1998-04-01 | PMID 9585796
Lamba J K, Dhiman R K, Kohli K K
Intra- and inter-specific variation in nuclear ribosomal internal transcribed spacer 1 of the Schistosoma japonicum species complex.
Parasitology | 1998-04-01 | PMID 9585933
van Herwerden L, Blair D, Agatsuma T
Codon reading properties of tRNA variants substituted within the anticodon loop.
Nucleic acids symposium series | 1997-01-01 | PMID 9586026
Ouchi R, Takai K, Yokoyama S and 1 more
A mechanism for unsplicing and exon skipping in human alpha- and beta-globin mutant pre-mRNA splicing.
Nucleic acids symposium series | 1997-01-01 | PMID 9586060
Iida Y
A variant of Plasmodium ovale; analysis of its 18S ribosomal RNA gene sequence.
Nucleic acids symposium series | 1997-01-01 | PMID 9586115
Miyake H, Suwa S, Kimura M and 1 more
Matrix-assisted laser desorption/ionization for short tandem repeat loci.
Rapid communications in mass spectrometry : RCM | 1998-01-01 | PMID 9586228
Taranenko N I, Golovlev V V, Allman S L and 4 more
[Molecular analysis of tumor suppressor genes p16INK4 and TP53 of osteosarcomas in Spanish children].
Anales espanoles de pediatria | 1997-11-01 | PMID 9586287
Patiño García A, Sierrasesúmaga Ariznabarreta L
[Familial predisposition to breast cancer. Review].
Investigacion clinica | 1998-03-01 | PMID 9586400
Pineda-Del Villar L
Genes: BRCA1, BRCA2
Mutations in fibroblast growth factor receptor 2 gene and craniosynostotic syndromes in Japanese children.
The Journal of craniofacial surgery | 1998-03-01 | PMID 9586546
Nagase T, Nagase M, Hirose S and 1 more
Genes: FGFR2
Prostatic stromal cell phenotype is directly modulated by norepinephrine.
Urology | 1998-04-01 | PMID 9586626
Smith P, Rhodes N P, Beesley C and 2 more
A role for FADD in T cell activation and development.
Immunity | 1998-04-01 | PMID 9586634
Walsh C M, Wen B G, Chinnaiyan A M and 3 more
Genes: FADD
Polygenic autoimmune traits: Lyn, CD22, and SHP-1 are limiting elements of a biochemical pathway regulating BCR signaling and selection.
Immunity | 1998-04-01 | PMID 9586639
Cornall R J, Cyster J G, Hibbs M L and 4 more
Genes: BCR
F344/Shi rats bearing type b catalase-1 locus are sensitive to sodium L-ascorbate promotion of two-stage urinary bladder carcinogenesis.
Teratogenesis, carcinogenesis, and mutagenesis | 1998-01-01 | PMID 9586768
Mori S, Murai T, Hosono M and 5 more
BRCA1 and BRCA2: from molecular genetics to clinical medicine.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 1998-05-01 | PMID 9586917
Blackwood M A, Weber B L
Genes: BRCA1, BRCA2
High frequency of CYP1A1 mutations in a Turkish population.
Archives of toxicology | 1998-03-01 | PMID 9587016
Aynacioglu A S, Cascorbi I, Mrozikiewicz P M and 1 more
Biochemistry and molecular genetics of cystathionine beta-synthase deficiency.
European journal of pediatrics | 1998-04-01 | PMID 9587026
Kraus J P
Genes: CBS
Methylenetetrahydrofolate reductase and methionine synthase: biochemistry and molecular biology.
European journal of pediatrics | 1998-04-01 | PMID 9587027
Matthews R G, Sheppard C, Goulding C
Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria.
European journal of pediatrics | 1998-04-01 | PMID 9587029
De Franchis R, Sperandeo M P, Sebastio G and 1 more
Genes: CBS
Newborn screening for homocystinuria: Irish and world experience.
European journal of pediatrics | 1998-04-01 | PMID 9587032
Naughten E R, Yap S, Mayne P D
Mutated 5,10-methylenetetrahydrofolate reductase and moderate hyperhomocysteinaemia.
European journal of pediatrics | 1998-04-01 | PMID 9587041
Blom H J
Genes: MTHFR, CBS
Neural tube defects, vitamins and homocysteine.
European journal of pediatrics | 1998-04-01 | PMID 9587043
Eskes T K
Genes: MTHFR
The molecular genetic approach to "Bartter's syndrome".
Journal of molecular medicine (Berlin, Germany) | 1998-04-01 | PMID 9587066
Károlyi L, Koch M C, Grzeschik K H and 1 more
Genes: KCNJ1, CLCNKB
The molecular basis of nephrogenic diabetes insipidus.
Journal of molecular medicine (Berlin, Germany) | 1998-04-01 | PMID 9587067
Oksche A, Rosenthal W
Genes: AVP
What has the cloning of the ATM gene told us about ataxia telangiectasia?
International journal of radiation biology | 1998-04-01 | PMID 9587073
Taylor A M
Genes: ATM
Molecular and cellular basis of radiation fibrosis.
International journal of radiation biology | 1998-04-01 | PMID 9587078
Burger A, Löffler H, Bamberg M and 1 more
Microsatellite instability in human solid tumors.
Cancer | 1998-05-15 | PMID 9587112
Arzimanoglou I I, Gilbert F, Barber H R
Menkes syndrome and animal models.
The American journal of clinical nutrition | 1998-05-01 | PMID 9587146
Mercer J F
Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency.
The American journal of clinical nutrition | 1998-05-01 | PMID 9587147
Kaler S G
Serum gastrin and pepsinogen I, II concentrations in children with Helicobacter pylori infection: the role of CagA and VacA.
Yonsei medical journal | 1998-04-01 | PMID 9587257
Kim J W, Chung K S
Functional consequences of mutations in Ser-52 and Ser-60 in human blood coagulation factor VII.
Archives of biochemistry and biophysics | 1998-04-15 | PMID 9587405
Iino M, Foster D C, Kisiel W
The role of N-glycosylation of human thromboxane A2 receptor in ligand binding.
Archives of biochemistry and biophysics | 1998-04-15 | PMID 9587408
Chiang N, Tai H H
The familial amyotrophic lateral sclerosis-associated amino acid substitutions E100G, G93A, and G93R do not influence the rate of inactivation of copper- and zinc-containing superoxide dismutase by H2O2.
Archives of biochemistry and biophysics | 1998-04-15 | PMID 9587411
Liochev S I, Chen L L, Hallewell R A and 1 more
A kinetic study of site-directed mutants of Escherichia coli ADP-glucose pyrophosphorylase: the role of residue 295 in allosteric regulation.
Archives of biochemistry and biophysics | 1998-04-15 | PMID 9587413
Meyer C R, Yirsa J, Gott B and 1 more
[Contribution of genetics to pathogenicity and diagnosis of Marfan syndrome].
Archives des maladies du coeur et des vaisseaux | 1997-12-01 | PMID 9587455
Boileau C, Collod G, Bonnet D
Genes: FBN1, FBN2
Myasthenic nicotinic receptor mutant interpreted in terms of the allosteric model.
Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie | 1997-12-01 | PMID 9587473
Edelstein S J, Schaad O, Changeux J P
Phenotypic characterization of Leishmania mexicana pentamidine-resistant promastigotes. Modulation of the resistance during in-vitro developmental life cycle.
Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie | 1997-12-01 | PMID 9587476
Sereno D, Michon P, Brajon N and 1 more
[Mutations of the endothelin-3 gene in isolated and syndromic forms of Hirschsprung disease].
Gastroenterologie clinique et biologique | 1997-01-01 | PMID 9587491
Bidaud C, Salomon R, Edery P and 7 more
Genes: EDN3, RET
[Polymorphism of the microsatellites and tumor necrosis factor genes in chronic inflammatory bowel diseases].
Gastroenterologie clinique et biologique | 1997-01-01 | PMID 9587492
Heresbach D, Ababou A, Bourienne A and 11 more
Genes: TNF
[Value of high-dose interferon-alpha in chronic viral hepatitis C patients non-responder to a 1st treatment. Pilot study prospective and randomized trial].
Gastroenterologie clinique et biologique | 1997-01-01 | PMID 9587555
Rolachon A, Kézachian G, Causse X and 5 more
[Retinal involvement in drepanocytosis in Togo. Correlation between age, genotype and retinopathy].
Journal francais d'ophtalmologie | 1997-01-01 | PMID 9587575
Balo K P, Fany A, Mihluedo H and 2 more
Biomechanical events in the time to exhaustion at maximum aerobic speed.
Archives of physiology and biochemistry | 1997-10-01 | PMID 9587650
Gazeau F, Koralsztein J P, Billat V
Polymorphism within the HLA-DQB1*02 promoter associated with susceptibility to coeliac disease.
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics | 1998-02-01 | PMID 9587738
Fernandez-Arquero M, Caldés T, Casado E and 3 more
HLA class II allele and haplotype distribution in a population from central Poland.
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics | 1998-02-01 | PMID 9587739
Krokowski M, Bodalski J, Bratek A and 2 more
HLA-B38 and clozapine-induced agranulocytosis in Israeli Jewish schizophrenic patients.
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics | 1998-02-01 | PMID 9587740
Valevski A, Klein T, Gazit E and 6 more
A nested PCR-RFLP method for high-resolution typing of HLA-A alleles.
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics | 1998-02-01 | PMID 9587741
Mitsunaga S, Tokunaga K, Kashiwase K and 3 more
TNFB gene polymorphism in insulin-dependent diabetes mellitus: association with HLA-DR alleles.
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics | 1998-02-01 | PMID 9587743
Newton D J, Bowen-Jones D, Crosby I and 2 more
Genes: TNF
Increased forensic efficiency of a STR-based Y-specific haplotype by addition of the highly polymorphic DYS385 locus.
International journal of legal medicine | 1998-01-01 | PMID 9587796
Caglià A, Dobosz M, Boschi I and 2 more
Population genetic data of the STR HumD3S1358 in two regions of Germany.
International journal of legal medicine | 1998-01-01 | PMID 9587801
Szibor R, Lautsch S, Plate I and 2 more
Haematological and serum biochemical values in spontaneously epileptic male rats and related rat strains.
Laboratory animals | 1998-04-01 | PMID 9587905
Asano Y, Susami M, Honda K and 1 more
Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS.
Ophthalmic genetics | 1998-03-01 | PMID 9587927
Ekström U, Ponjavic V, Abrahamson M and 4 more
Genetic polymorphism of drug metabolizing enzymes: new mutations in CYP2D6 and CYP2A6 genes in Japanese.
Pharmaceutical research | 1998-04-01 | PMID 9587945
Yokoi T, Kamataki T
Structural and functional differences between glycosylated and non-glycosylated forms of human interferon-beta (IFN-beta).
Pharmaceutical research | 1998-04-01 | PMID 9587963
Runkel L, Meier W, Pepinsky R B and 7 more
Genes: SDS
[The spectrum of mutations in the CFTR gene in patients with cystic fibrosis in Slovakia].
Bratislavske lekarske listy | 1998-01-01 | PMID 9588077
Kádasi L, Poláková H, Zatková A and 2 more
Genes: CFTR
[Frequency of the HLA-DPB1 allele in the Slovak population].
Bratislavske lekarske listy | 1998-01-01 | PMID 9588081
Cechová E, Fazekasová H, Shawkatová I and 1 more
Genetic relationships between Trypanosoma cruzi strains isolated from chronic chagasic patients in southern Brazil as revealed by RAPD and SSR-PCR analysis.
Acta tropica | 1998-05-01 | PMID 9588230
Gomes M L, Macedo A M, Pena S D and 1 more
Murine lupus: pathogenic mechanisms and genetic origins.
Annals of the Academy of Medicine, Singapore | 1998-01-01 | PMID 9588272
Mohan C
Changes in phenotypic expression of osteoblasts after X irradiation.
Radiation research | 1998-05-01 | PMID 9588357
Matsumura S, Hiranuma H, Deguchi A and 3 more
Cancer predisposition, radiosensitivity and the risk of radiation-induced cancers. IV. Prediction of risks in relatives of cancer-predisposed individuals.
Radiation research | 1998-05-01 | PMID 9588361
Chakraborty R, Little M P, Sankaranarayanan K
Genes: BRCA1
Islet amyloid-associated diabetes in obese A(vy)/a mice expressing human islet amyloid polypeptide.
Diabetes | 1998-05-01 | PMID 9588445
Soeller W C, Janson J, Hart S E and 5 more
Genes: IAPP
Obesity-independent hyperinsulinemia in nondiabetic first-degree relatives of individuals with type 2 diabetes.
Diabetes | 1998-05-01 | PMID 9588451
Ishikawa M, Pruneda M L, Adams-Huet B and 1 more
Sib-pair linkage analysis for susceptibility genes for microvascular complications among Pima Indians with type 2 diabetes. Pima Diabetes Genes Group.
Diabetes | 1998-05-01 | PMID 9588456
Imperatore G, Hanson R L, Pettitt D J and 3 more
A functional analysis of the role of IGF2 in IDDM2-encoded susceptibility to type 1 diabetes.
Diabetes | 1998-05-01 | PMID 9588457
Vafiadis P, Grabs R, Goodyer C G and 2 more
Genes: IGF2, INS
Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism.
Thyroid : official journal of the American Thyroid Association | 1998-04-01 | PMID 9588493
Targovnik H M, Frechtel G D, Mendive F M and 4 more
Description of a Brazilian patient bearing the R271W Pit-1 gene mutation.
Thyroid : official journal of the American Thyroid Association | 1998-04-01 | PMID 9588494
Rodrigues Martineli A M, Braga M, De Lacerda L and 2 more
Genes: PRL, TRH
Analysis of the promoter of the thyrotropin receptor gene and the entire genomic sequence of thyroid transcription factor-1 in familial congenital hypothyroidism due to thyrotropin unresponsiveness.
Thyroid : official journal of the American Thyroid Association | 1998-04-01 | PMID 9588495
Hishinuma A, Takamatsu J, Kanno Y and 2 more
Electroretinogram in Duchenne/Becker muscular dystrophy.
Pediatric neurology | 1998-04-01 | PMID 9588526
Pascual Pascual S I, Molano J, Pascual-Castroviejo I
Genes: DMD, ERG
An MRI and MRS study of Pelizaeus-Merzbacher disease.
Pediatric neurology | 1998-04-01 | PMID 9588530
Nezu A, Kimura S, Takeshita S and 3 more
A DNA repair defect in a patient with ataxia, mental retardation, and short stature.
Pediatric neurology | 1998-04-01 | PMID 9588536
Yamagata T, Momoi M Y, Saitoh S and 2 more
Neuronal progenitor cells of the neonatal subventricular zone differentiate and disperse following transplantation into the adult rat striatum.
Cell transplantation | 2000-01-01 | PMID 9588596
Zigova T, Pencea V, Betarbet R and 4 more
Genes: GFAP, MAP2
Three mitochondrial DNA restriction polymorphisms in elite endurance athletes and sedentary controls.
Medicine and science in sports and exercise | 1998-05-01 | PMID 9588609
Rivera M A, Wolfarth B, Dionne F T and 12 more
Strength training: importance of genetic factors.
Medicine and science in sports and exercise | 1998-05-01 | PMID 9588615
Thomis M A, Beunen G P, Maes H H and 6 more
Mutational and biochemical analysis of dopamine in dystonia: evidence for decreased dopamine D2 receptor inhibition.
Molecular neurobiology | 1998-04-01 | PMID 9588625
Todd R D, Perlmutter J S
Differences in acquisition and full performance in skilled forelimb use as measured by the 'staircase test' in five rat strains.
Behavioural brain research | 1998-04-01 | PMID 9588688
Nikkhah G, Rosenthal C, Hedrich H J and 1 more
Sublethal damage repair capacity in carcinoma cell lines with p53 mutations.
Head & neck | 1998-07-01 | PMID 9588701
Pekkola-Heino K, Servomaa K, Kiuru A and 1 more
The influence of sex on the phenotype of rheumatoid arthritis.
Arthritis and rheumatism | 1998-05-01 | PMID 9588732
Weyand C M, Schmidt D, Wagner U and 1 more
Osteoblast-like cells from human subchondral osteoarthritic bone demonstrate an altered phenotype in vitro: possible role in subchondral bone sclerosis.
Arthritis and rheumatism | 1998-05-01 | PMID 9588742
Hilal G, Martel-Pelletier J, Pelletier J P and 2 more
Polymorphisms of HLA class II genes and autoimmune responses to Ro/SS-A-La/SS-B among Japanese subjects.
Arthritis and rheumatism | 1998-05-01 | PMID 9588746
Miyagawa S, Shinohara K, Nakajima M and 6 more
Neurotrophic factors and the maldevelopmental hypothesis of schizophrenic psychoses. Review article.
Journal of neural transmission (Vienna, Austria : 1996) | 1998-01-01 | PMID 9588763
Thome J, Foley P, Riederer P
Insertion/deletion variant (-141C Ins/Del) in the 5' regulatory region of the dopamine D2 receptor gene: lack of association with schizophrenia and bipolar affective disorder. Short communication.
Journal of neural transmission (Vienna, Austria : 1996) | 1998-01-01 | PMID 9588764
Stöber G, Jatzke S, Heils A and 5 more
Structural and functional implications of sequence diversity of Pseudomonas aeruginosa genes oriC, ampC and fliC.
Electrophoresis | 1998-04-01 | PMID 9588800
Spangenberg C, Montie T C, Tümmler B
European Functional Analysis Network (EUROFAN) and the functional analysis of the Saccharomyces cerevisiae genome.
Electrophoresis | 1998-04-01 | PMID 9588813
Dujon B
How to overcome resistance of influenza A viruses against adamantane derivatives.
Antiviral research | 1998-02-01 | PMID 9588841
Scholtissek C, Quack G, Klenk H D and 1 more
In vitro anti-influenza virus activity of a plant preparation from Geranium sanguineum L.
Antiviral research | 1998-02-01 | PMID 9588844
Serkedjieva J, Hay A J
Machado-Joseph disease in three Scandinavian families.
Journal of the neurological sciences | 1998-04-01 | PMID 9588850
Løkkegaard T, Nielsen J E, Hasholt L and 8 more
A small direct tandem duplication of the myelin protein zero gene in a patient with Dejerine-Sottas disease phenotype.
Journal of the neurological sciences | 1998-04-01 | PMID 9588852
Tachi N, Kozuka N, Ohya K and 2 more
Analysis of spinocerebellar ataxia type 2 in Gunma Prefecture in Japan: CAG trinucleotide expansion and clinical characteristics.
Journal of the neurological sciences | 1998-04-01 | PMID 9588855
Mizushima K, Watanabe M, Abe K and 5 more
Gastrointestinal pacemaker cell tumor (GIPACT): gastrointestinal stromal tumors show phenotypic characteristics of the interstitial cells of Cajal.
The American journal of pathology | 1998-05-01 | PMID 9588894
Kindblom L G, Remotti H E, Aldenborg F and 1 more
Autoimmune orchitis, epididymitis, and vasitis are immunogenetically distinct lesions.
The American journal of pathology | 1998-05-01 | PMID 9588902
Roper R J, Doerge R W, Call S B and 3 more
The effect of Ser 128 substitution on the structure and stability of cAMP receptor protein from Escherichia coli.
Journal of protein chemistry | 1998-04-01 | PMID 9588945
Małecki J, Wasylewski Z
Genes: CRP
Adherence of phenotypically switched Candida albicans to denture base materials.
The International journal of prosthodontics | 2000-01-01 | PMID 9588994
Radford D R, Challacombe S J, Walter J D
[Genetic testing for ret mutation for early diagnosis and treatment in familial medullary thyroid carcinoma: a case report].
Gan to kagaku ryoho. Cancer & chemotherapy | 1998-04-01 | PMID 9589057
Nagaoka H, Iino Y, Takei H and 9 more
Psychopathology in the relatives of depressed-abused children.
Child abuse & neglect | 1998-03-01 | PMID 9589172
Kaufman J, Birmaher B, Brent D and 3 more
A multivariate quantitative-genetic analysis of behavioral development in mice.
Developmental psychobiology | 1998-05-01 | PMID 9589222
Crusio W E, Schmitt A