[Proximal myotonic myopathy (PROMM). Clinical variability within a family].
Der Nervenarzt | 1997-10-01 | PMID 9441258
Eger K, Schulte-Mattler W J, Zierz S
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 939 of 10600
A 5.5-kb enhancer is both necessary and sufficient for regulation of Wnt-1 transcription in vivo.
Developmental biology | 1997-12-15 | PMID 9441669
Danielian P S, Echelard Y, Vassileva G and 1 more
Requirement for dynamin during Notch signaling in Drosophila neurogenesis.
Developmental biology | 1997-12-15 | PMID 9441691
Seugnet L, Simpson P, Haenlin M
Differences in caffeine 3-demethylation activity among inbred mouse strains: a comparison of hepatic Cyp1a2 gene expression between two inbred strains.
Fundamental and applied toxicology : official journal of the Society of Toxicology | 1997-12-01 | PMID 9441719
Casley W L, Menzies J A, Girard M and 4 more
Identification of TP53 gene mutations in uterine corpus cancer with short follow-up.
Gynecologic oncology | 1997-12-01 | PMID 9441778
Koul A, Borg A, Pejovic T and 4 more
Multivariate analysis of correlated selection and kin selection, with an ESS maximization method.
Journal of theoretical biology | 1997-12-07 | PMID 9441823
Frank S A
A 5' dystrophin duplication mutation causes membrane deficiency of alpha-dystroglycan in a family with X-linked cardiomyopathy.
Journal of molecular and cellular cardiology | 1997-12-01 | PMID 9441825
Bies R D, Maeda M, Roberds S L and 4 more
Genes: DAP
Inactivation of single genes within the virulence regulon of an M2 group A streptococcal isolate result in differences in virulence for chicken embryos and for mice.
Microbial pathogenesis | 1997-12-01 | PMID 9441861
Schmidt K H, Podbielski A, Raeder R and 1 more
A common deletion mutation in European patients with Sjögren-Larsson syndrome.
Biochemical and molecular medicine | 1997-12-01 | PMID 9441870
Rizzo W B, Carney G, De Laurenzi V
Preimplantation diagnosis of single gene disorders by two-step oocyte genetic analysis using first and second polar body.
Biochemical and molecular medicine | 1997-12-01 | PMID 9441871
Verlinsky Y, Rechitsky S, Cieslak J and 10 more
Genes: PGD
Urban particle-induced apoptosis and phenotype shifts in human alveolar macrophages.
Environmental health perspectives | 1998-03-01 | PMID 9441960
Holian A, Hamilton R F, Morandi M T and 2 more
Functional properties of the unc-64 gene encoding a Caenorhabditis elegans syntaxin.
The Journal of biological chemistry | 1998-01-23 | PMID 9442061
Ogawa H, Harada S, Sassa T and 2 more
The human Rh50 glycoprotein gene. Structural organization and associated splicing defect resulting in Rh(null) disease.
The Journal of biological chemistry | 1998-01-23 | PMID 9442063
Huang C H
Truncation of MalF results in lactose transport via the maltose transport system of Escherichia coli.
The Journal of biological chemistry | 1998-01-23 | PMID 9442094
Merino G, Shuman H A
A novel fission yeast gene, tht1+, is required for the fusion of nuclear envelopes during karyogamy.
The Journal of cell biology | 1998-01-26 | PMID 9442101
Tange Y, Horio T, Shimanuki M and 3 more
Differential stimulation of the Na+/H+ exchanger determines chloroquine uptake in Plasmodium falciparum.
The Journal of cell biology | 1998-01-26 | PMID 9442109
Wünsch S, Sanchez C P, Gekle M and 3 more
Bone morphogenetic protein signaling is required for maintenance of differentiated phenotype, control of proliferation, and hypertrophy in chondrocytes.
The Journal of cell biology | 1998-01-26 | PMID 9442116
Enomoto-Iwamoto M, Iwamoto M, Mukudai Y and 7 more
Mice that lack thrombospondin 2 display connective tissue abnormalities that are associated with disordered collagen fibrillogenesis, an increased vascular density, and a bleeding diathesis.
The Journal of cell biology | 1998-01-26 | PMID 9442117
Kyriakides T R, Zhu Y H, Smith L T and 9 more
Cytogenetic alterations in eight mammary tumors and tumor-suppressor gene p53 mutation in one mammary tumor from dogs.
American journal of veterinary research | 1998-01-01 | PMID 9442248
Mayr B, Dressler A, Reifinger M and 1 more
The value of lipid composition in the taxonomy of the Schizosaccharomycetales.
Antonie van Leeuwenhoek | 1997-11-01 | PMID 9442273
Jeffery J, Kock J L, Botha A and 2 more
Molecular and phenotypic characterization of Aspergillus japonicus and Aspergillus aculeatus strains with special regard to their mitochondrial DNA polymorphisms.
Antonie van Leeuwenhoek | 1997-11-01 | PMID 9442274
Hamari Z, Kevei F, Kovács E and 3 more
Use of a lux-based procedure to rapidly visualize root colonisation by Pseudomonas fluorescens in the wheat rhizosphere.
Antonie van Leeuwenhoek | 1997-11-01 | PMID 9442276
de Weger L A, Kuiper I, van der Bij A J and 1 more
Population responses to contaminant exposure in marine animals: influences of genetic diversity measured as allozyme polymorphism.
Archives of toxicology. Supplement. = Archiv fur Toxikologie. Supplement | 1998-01-01 | PMID 9442314
Hawkins A J
Genetic association between reduced P300 amplitude and the DRD2 dopamine receptor A1 allele in children at high risk for alcoholism.
Biological psychiatry | 1998-01-01 | PMID 9442343
Hill S Y, Locke J, Zezza N and 5 more
Genes: DRD2
Lack of association between anorexia nervosa and D3 dopamine receptor gene.
Biological psychiatry | 1998-01-01 | PMID 9442347
Bruins-Slot L, Gorwood P, Bouvard M and 5 more
Genes: DRD3
Ion transporter mutations in Gitelman's and Bartter's syndromes.
Current opinion in nephrology and hypertension | 1998-01-01 | PMID 9442362
Simon D B, Lifton R P
Drug extrusion in Corynebacterium glutamicum.
Microbial drug resistance (Larchmont, N.Y.) | 1997-01-01 | PMID 9442486
Kaidoh K, Kimura M, Miyauchi S and 2 more
Antibiotic susceptibility of group A streptococci in 2 Italian cities: Milano and Catania.
Microbial drug resistance (Larchmont, N.Y.) | 1997-01-01 | PMID 9442491
Cocuzza C, Blandino G, Mattina R and 2 more
Massive reduction in methicillin resistance by transposon inactivation of the normal PBP2 in a methicillin-resistant strain of Staphylococcus aureus.
Microbial drug resistance (Larchmont, N.Y.) | 1997-01-01 | PMID 9442495
Pinho M G, Ludovice A M, Wu S and 1 more
Immunogenetics of Henoch-Schoenlein disease.
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics | 1997-10-01 | PMID 9442800
Amoroso A, Berrino M, Canale L and 5 more
HLA-B44 allele frequencies and haplotypic associations in three European populations.
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics | 1997-10-01 | PMID 9442801
Vidan-Jeras B, Breur-Vriesendorp B, Bohinjec M and 3 more
HLA-DR and -DQB1 DNA polymorphisms in a Vietnamese Kinh population from Hanoi.
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics | 1997-10-01 | PMID 9442802
Vu-Trieu A, Djoulah S, Tran-Thi C and 4 more
HLA-DR4 subtype and -B alleles in DQB1*0302-positive haplotypes associated with IDDM. The Childhood Diabetes in Finland Study Group.
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics | 1997-10-01 | PMID 9442803
Reijonen H, Nejentsev S, Tuokko J and 4 more
HLA-DR/DQ/DP interactions in rheumatoid arthritis.
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics | 1997-10-01 | PMID 9442804
Seidl C, Koch U, Brünnler G and 7 more
No association or linkage to IDDM of an interferon regulatory factor-1 gene polymorphism in a Danish population. The Danish Study Group for Diabetes in Childhood.
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics | 1997-10-01 | PMID 9442805
Johannesen J, Karlsen A E, Nerup J and 1 more
Gestational diabetes mellitus and HLA class II (-DQ, -DR) association: The Digest Study.
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics | 1997-10-01 | PMID 9442806
Vambergue A, Fajardy I, Bianchi F and 5 more
A commentary on 10 years of aldose reductase inhibition for limited joint mobility in diabetes.
Journal of diabetes and its complications | 2000-01-01 | PMID 9442813
Eaton R P, Sibbitt W L, Shah V O and 3 more
Genetics of transcriptional regulation in yeast: connections to the RNA polymerase II CTD.
Annual review of cell and developmental biology | 1997-01-01 | PMID 9442866
Carlson M
Genetics of prions.
Annual review of genetics | 1997-01-01 | PMID 9442893
Prusiner S B, Scott M R
Temporal pattern formation by heterochronic genes.
Annual review of genetics | 1997-01-01 | PMID 9442909
Slack F, Ruvkun G
Understanding gene and allele function with two-hybrid methods.
Annual review of genetics | 1997-01-01 | PMID 9442911
Brent R, Finley R L
Comparison of SSCP analysis and CFLP analysis for mutation detection in the human iduronate 2-sulfatase gene.
Biochemistry and molecular biology international | 1997-12-01 | PMID 9442913
Maddox L O, Li P, Bennett A and 2 more
Genes: IDS
Production of virulence-related proteins by Canadian strains of Streptococcus suis capsular type 2.
Canadian journal of veterinary research = Revue canadienne de recherche veterinaire | 1998-01-01 | PMID 9442945
Gottschalk M, Lebrun A, Wisselink H and 3 more
Lymphocyte subsets in patients with ovarian and breast cancer.
European journal of gynaecological oncology | 1997-01-01 | PMID 9443013
Schröder W, Vering A, Stegmüller M and 1 more
Relationship between alkaline phosphatase levels, osteopontin expression, and mineralization in differentiating MC3T3-E1 osteoblasts.
Journal of cellular biochemistry | 1998-02-01 | PMID 9443082
Beck G R, Sullivan E C, Moran E and 1 more
Molecular genetic characterization of alternatively spliced CD44 transcripts in human stomach carcinoma.
Journal of Korean medical science | 1997-12-01 | PMID 9443088
Kim Y S, Chi S G, Kim Y W and 2 more
Characteristics of hepatitis C virus before and after interferon treatment in patients with ongoing viraemia but sustained biochemical response.
Journal of medical virology | 1998-01-01 | PMID 9443103
Donadel E, Pontisso P, Ruvoletto M G and 5 more
Hepatitis C virus genotypes implicated in mixed cryoglobulinemia.
Journal of medical virology | 1998-01-01 | PMID 9443105
Nguyen Q T, Leruez-Ville M, Ferrière F and 5 more
Use of microscopical techniques in the study of human chondrocytes from osteoarthritic cartilage: an overview.
Microscopy research and technique | 1998-01-01 | PMID 9443154
Kouri J B, Argüello C, Luna J and 1 more
Pharmacogenetics in biological perspective.
Pharmacological reviews | 1997-12-01 | PMID 9443163
Kalow W
High frequency of deletion mutations in p53 gene from squamous cell lung cancer patients in Taiwan.
Cancer research | 1998-01-15 | PMID 9443413
Wang Y C, Chen C Y, Chen S K and 3 more
Reduced immunoreactivity to calcium-binding proteins in Purkinje cells precedes onset of ataxia in spinocerebellar ataxia-1 transgenic mice.
Neurology | 1998-01-01 | PMID 9443466
Vig P J, Subramony S H, Burright E N and 4 more
CSF tau is related to apolipoprotein E genotype in early Alzheimer's disease.
Neurology | 1998-01-01 | PMID 9443475
Tapiola T, Lehtovirta M, Ramberg J and 4 more
Progressive supranuclear gaze palsy is in linkage disequilibrium with the tau and not the alpha-synuclein gene.
Neurology | 1998-01-01 | PMID 9443491
Higgins J J, Litvan I, Pho L T and 2 more
Genes: SNCA
Sporadic cases of dentatorubral-pallidoluysian atrophy associated with maternal transmission.
Neurology | 1998-01-01 | PMID 9443494
Shimohata T, Ishiguro H, Makino K and 4 more
Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria.
Neurology | 1998-01-01 | PMID 9443500
Bruno C, Minetti C, Shanske S and 4 more
All-trans-retinoic acid modulation of drug-metabolizing enzyme activities: investigation with selective metabolic drug probes.
Cancer chemotherapy and pharmacology | 1998-01-01 | PMID 9443626
Adedoyin A, Stiff D D, Smith D C and 6 more
Lack of association of angiotensin converting enzyme gene polymorphism or serum enzyme activity with coronary artery disease in Japanese subjects.
American journal of hypertension | 1997-12-01 | PMID 9443774
Fujimura T, Yokota M, Kato S and 6 more
Genes: ACE, CAD
Polymorphism of angiotensin converting enzyme, angiotensinogen, and apolipoprotein E genes in a Japanese population with cerebrovascular disease.
American journal of hypertension | 1997-12-01 | PMID 9443775
Nakata Y, Katsuya T, Rakugi H and 7 more
Genes: ACE
Lack of correlation between start codon polymorphism of the vitamin D receptor gene and bone mineral density in premenopausal French women: the OFELY study.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research | 1998-01-01 | PMID 9443787
Eccleshall T R, Garnero P, Gross C and 2 more
Genes: VDR
Linkage analysis of X-linked cone-rod dystrophy: localization to Xp11.4 and definition of a locus distinct from RP2 and RP3.
American journal of human genetics | 1998-01-01 | PMID 9443860
Seymour A B, Dash-Modi A, O'Connell J R and 8 more
Genes: RPGR
DNA polymorphisms in two paraoxonase genes (PON1 and PON2) are associated with the risk of coronary heart disease.
American journal of human genetics | 1998-01-01 | PMID 9443862
Sanghera D K, Aston C E, Saha N and 1 more
Genes: PON2, PON1, PON3
Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2.
American journal of human genetics | 1998-01-01 | PMID 9443863
Parmigiani G, Berry D, Aguilar O
Genes: BRCA1, BRCA2
A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease.
American journal of human genetics | 1998-01-01 | PMID 9443865
Tysoe C, Whittaker J, Xuereb J and 5 more
Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.
American journal of human genetics | 1998-01-01 | PMID 9443866
Telatar M, Teraoka S, Wang Z and 12 more
Genes: ATM
Incorporating genotypes of relatives into a test of linkage disequilibrium.
American journal of human genetics | 1998-01-01 | PMID 9443867
Excoffier L, Slatkin M
Genotype-phenotype correspondence in Sanfilippo syndrome type B.
American journal of human genetics | 1998-01-01 | PMID 9443875
Zhao H G, Aronovich E L, Whitley C B
Genes: NAGLU
NAGLU mutations underlying Sanfilippo syndrome type B.
American journal of human genetics | 1998-01-01 | PMID 9443878
Schmidtchen A, Greenberg D, Zhao H G and 9 more
Genes: NAGLU
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.
American journal of human genetics | 1998-01-01 | PMID 9443879
Mallery D L, Tanganelli B, Colella S and 5 more
Genes: ERCC6
Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19.
American journal of human genetics | 1998-01-01 | PMID 9443880
O'Quinn J R, Hennekam R C, Jorde L B and 1 more
The gene for severe combined immunodeficiency disease in Athabascan-speaking Native Americans is located on chromosome 10p.
American journal of human genetics | 1998-01-01 | PMID 9443881
Li L, Drayna D, Hu D and 4 more
Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations.
American journal of human genetics | 1998-01-01 | PMID 9443882
Körkkö J, Ala-Kokko L, De Paepe A and 3 more
Co-evolution of rat TAP transporters and MHC class I RT1-A molecules.
Current biology : CB | 1998-01-29 | PMID 9443915
Joly E, Le Rolle A F, González A L and 6 more
Interaction between iron metabolism and 2,3,7,8-tetrachlorodibenzo-p-dioxin in mice with variants of the Ahr gene: a hepatic oxidative mechanism.
Molecular pharmacology | 1998-01-01 | PMID 9443932
Smith A G, Clothier B, Robinson S and 6 more
Effects of ethanol and anesthetics on type 1 and 5 metabotropic glutamate receptors expressed in Xenopus laevis oocytes.
Molecular pharmacology | 1998-01-01 | PMID 9443943
Minami K, Gereau R W, Minami M and 2 more
Efficient 3'-end formation of human beta-globin mRNA in vivo requires sequences within the last intron but occurs independently of the splicing reaction.
Nucleic acids research | 1998-02-01 | PMID 9443963
Antoniou M, Geraghty F, Hurst J and 1 more
Identification of the DNA sequence that interacts with the gut-enriched Krüppel-like factor.
Nucleic acids research | 1998-02-01 | PMID 9443972
Shields J M, Yang V W
Effects of deletion mutations in the yeast Ces1 protein on cell growth and morphology and on high copy suppression of mutations in mRNA capping enzyme and translation initiation factor 4A.
Nucleic acids research | 1998-02-01 | PMID 9443973
Schwer B, Linder P, Shuman S
Genes: CES1
Structural analysis of slipped-strand DNA (S-DNA) formed in (CTG)n. (CAG)n repeats from the myotonic dystrophy locus.
Nucleic acids research | 1998-02-01 | PMID 9443975
Pearson C E, Wang Y H, Griffith J D and 1 more
Comparison of sequences of E/NS1 gene junction of dengue type 3 virus following culture subpassage in C6/36 cells to study the possible occurrence of mutations.
The Southeast Asian journal of tropical medicine and public health | 1997-06-01 | PMID 9444025
Thayan R, Morita K, Vijayamalar B and 5 more
Kat G mutations in isoniazid resistant Mycobacterium tuberculosis isolates from Thai patients.
The Southeast Asian journal of tropical medicine and public health | 1997-06-01 | PMID 9444026
Paca-uccaralertkun S, Chuchottaworn C
Genetic differentiation among three populations of Anopheles minimus of Guangxi and Yunnan Provinces in the People's Republic of China.
The Southeast Asian journal of tropical medicine and public health | 1997-06-01 | PMID 9444039
Sawabe K, Takagi M, Tsudo Y and 5 more
Difference between lambs with chronic and mild dermatophilosis in frequency of alleles of CD3 gamma.
Veterinary microbiology | 1997-10-16 | PMID 9444070
Masters A M, Ellis T M, Groth D
Phenotypic characterisation of Pasteurella multocida isolates from Australian pigs.
Veterinary microbiology | 1997-10-16 | PMID 9444072
Blackall P J, Pahoff J L, Bowles R
The host response to Listeria monocytogenes mutants defective in genes encoding phospholipases C (plcA, plcB) and actin assembly (actA).
Microbiology and immunology | 1997-01-01 | PMID 9444325
Rudnicka W, Kaczmarek M, Szeliga J and 3 more
Molecular epidemiology of Vibrio cholerae O1 isolated from sporadic cholera cases in Okinawa, Japan.
Microbiology and immunology | 1997-01-01 | PMID 9444327
Iwanaga M, Honma Y, Enami M
Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa.
Archives of dermatological research | 1997-10-01 | PMID 9444387
Cserhalmi-Friedman P B, Karpati S, Horvath A and 1 more
Analysis of variation in relative mRNA abundance for specific gene transcripts in single bovine oocytes and early embryos.
Molecular reproduction and development | 1998-02-01 | PMID 9444655
De Sousa P A, Westhusin M E, Watson A J
Genes: LIF
Para Bombay phenotype--a case report.
Indian journal of pathology & microbiology | 1997-10-01 | PMID 9444871
Mathai J, Sulochana P V, Sathyabhama S
Genes: ABO
Role of candidate modifier genes on the phenotypic expression of hypertrophy in patients with hypertrophic cardiomyopathy.
Journal of investigative medicine : the official publication of the American Federation for Clinical Research | 1997-12-01 | PMID 9444881
Brugada R, Kelsey W, Lechin M and 12 more
Genes: AGT
Blood groups and transfusion medicine in Taiwan.
Journal of the Formosan Medical Association = Taiwan yi zhi | 1997-12-01 | PMID 9444911
Lin M
Genes: ABO
Two novel glucose 6-phosphate dehydrogenase deficiency mutations and association of such mutations with F8C/G6PD haplotype in Chinese.
Journal of the Formosan Medical Association = Taiwan yi zhi | 1997-12-01 | PMID 9444913
Chen H L, Huang M J, Huang C S and 1 more
Frequency of the CCR5 delta 32 mutant allele in HIV-1-positive patients, female sex workers, and a normal population in Taiwan.
Journal of the Formosan Medical Association = Taiwan yi zhi | 1997-12-01 | PMID 9444918
Li C, Yan Y P, Shieh B and 3 more
Genes: CCR5
Heterogeneity of the inhibitory effects of IL-4 in two novel B lineage acute lymphoblastic leukemia cell lines.
Leukemia research | 2000-01-01 | PMID 9444937
Renard N, Harada N, Callet-Bauchu E and 4 more
Genes: FES
Persistence and differentiation of HTLV-I-transformed immature T-cells in HTLV-I carrier rabbits.
Leukemia research | 2000-01-01 | PMID 9444939
Yoshida H, Nagano Y, Isono T and 1 more
Contribution of enhanced transcriptional activation by ER to [12Val] K-Ras mediated NIH3T3 cell transformation.
Oncogene | 1997-12-18 | PMID 9444952
Kato K, Ueoka Y, Kato K and 3 more
Activation of c-Src by receptor tyrosine kinases in human colon cancer cells with high metastatic potential.
Oncogene | 1997-12-18 | PMID 9444956
Mao W, Irby R, Coppola D and 7 more
Genes: EGFR
Does base composition help predispose the complementarity-determining regions of antibodies to hypermutation?
Molecular immunology | 1997-08-01 | PMID 9444975
Padlan E A
Differential requirements for conserved E2 binding sites in the life cycle of oncogenic human papillomavirus type 31.
Journal of virology | 1998-02-01 | PMID 9445001
Stubenrauch F, Lim H B, Laimins L A
The major site of phosphorylation within the Rous sarcoma virus MA protein is not required for replication.
Journal of virology | 1998-02-01 | PMID 9445005
Nelle T D, Verderame M F, Leis J and 1 more