Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin.
Human molecular genetics | 1999-07-01 | PMID 10369876
Willcutts M D, Felner E, White P C
Genes: AVP
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.
Semantic proximity supports literature exploration. It does not establish scientific or clinical evidence.
Publications
Page 1159 of 10600
Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.
Human molecular genetics | 1999-07-01 | PMID 10369879
Coucke P J, Van Hauwe P, Kelley P M and 17 more
Genes: KCNQ4, GJB3
Dystrobrevin- and dystrophin-like mutants display similar phenotypes in the nematode Caenorhabditis elegans.
Neurogenetics | 1999-04-01 | PMID 10369883
Gieseler K, Bessou C, Ségalat L
Evidence that allelic variants of the spinocerebellar ataxia type 2 gene influence susceptibility to multiple sclerosis.
Neurogenetics | 1999-04-01 | PMID 10369884
Chataway J, Sawcer S, Coraddu F and 7 more
Allelic expression of the NF2 gene in neurofibromatosis 2 and schwannomatosis.
Neurogenetics | 1999-04-01 | PMID 10369886
Jacoby L B, MacCollin M, Parry D M and 4 more
Is the LDL receptor-related protein involved in Alzheimer's disease?
Neurogenetics | 1999-04-01 | PMID 10369887
Lambert J C, Chartier-Harlin M C, Cottel D and 7 more
5-HTTLPR variants not associated with autistic spectrum disorders.
Neurogenetics | 1999-04-01 | PMID 10369890
Zhong N, Ye L, Ju W and 3 more
Genes: HTT
Generation and initial characterization of Pseudomonas stutzeri KC mutants with impaired ability to degrade carbon tetrachloride.
Archives of microbiology | 2000-01-01 | PMID 10369898
Sepúlveda-Torres L C, Rajendran N, Dybas M J and 1 more
Analysis of the expression and function of the sigmaB-dependent general stress regulon of Bacillus subtilis during slow growth.
Archives of microbiology | 2000-01-01 | PMID 10369900
Schweder T, Kolyschkow A, Völker U and 1 more
The human CD38 gene: polymorphism, CpG island, and linkage to the CD157 (BST-1) gene.
Immunogenetics | 1999-07-01 | PMID 10369916
Ferrero E, Saccucci F, Malavasi F
Population study of allelic diversity in the human MHC class I-related MIC-A gene.
Immunogenetics | 1999-07-01 | PMID 10369917
Petersdorf E W, Shuler K B, Longton G M and 2 more
MIC-A allele profiles and HLA class I associations in Behçet's disease.
Immunogenetics | 1999-07-01 | PMID 10369918
Wallace G R, Verity D H, Delamaine L J and 11 more
Characterization of a polymorphism in the coding region of the human C5a anaphylatoxin receptor.
Immunogenetics | 1999-07-01 | PMID 10369919
Marceau F, Bachvarova M, Bergeron J and 1 more
MIC-A polymorphism in Japanese and a MIC-A-MIC-B null haplotype.
Immunogenetics | 1999-07-01 | PMID 10369920
Komatsu-Wakui M, Tokunaga K, Ishikawa Y and 8 more
Cytonuclear disequilibria in wild populations of rabbit (Oryctolagus cuniculus L.) suggest unequal allele turnover rates at the b locus (IGKC1).
Immunogenetics | 1999-07-01 | PMID 10369921
van der Loo W, Mougel F, Sánchez M S and 6 more
Leu343Phe substitution in the Malx3 protein of Saccharomyces cerevisiae increases the constitutivity and glucose insensitivity of MAL gene expression.
Current genetics | 1999-06-01 | PMID 10369955
Higgins V J, Braidwood M, Bissinger P and 2 more
Genes: MAL
Strand interruptions confer strand preference during intracellular correction of a plasmid-borne mismatch in Saccharomyces cerevisiae.
Current genetics | 1999-06-01 | PMID 10369956
Yang Y, Kang X, Kohalmi L and 2 more
Genes: PMS1
DNA-binding factors assemble in a sequence-specific manner on the maize mitochondrial atpA promoter.
Current genetics | 1999-06-01 | PMID 10369957
Chang C C, Stern D B
Pleiotropic effects of a nuclear restorer-of-fertility locus on mitochondrial transcripts in male-fertile and S male-sterile maize.
Current genetics | 1999-06-01 | PMID 10369959
Wen L, Chase C D
Comparison of ribosomal DNA ITS regions among geographic isolates of Cenococcum geophilum.
Current genetics | 1999-06-01 | PMID 10369960
Shinohara M L, LoBuglio K F, Rogers S O
PaGrg1, a glucose-repressible gene of Podospora anserina that is differentially expressed during lifespan.
Current genetics | 1999-06-01 | PMID 10369964
Kimpel E, Osiewacz H D
Characterisation of a mutant of barnacle troponin C lacking Ca2+-binding sites at positions II and IV.
Pflugers Archiv : European journal of physiology | 1999-06-01 | PMID 10370084
Allhouse L D, Guzman G, Miller T and 3 more
Use of replication-deficient adenoviruses to study signal transduction pathways. Muscarinic responses in HSG and HT29 epithelial cell lines are mediated by G protein betagamma-subunits.
Pflugers Archiv : European journal of physiology | 1999-06-01 | PMID 10370090
Poronnik P, O'Mullane L M, Conigrave A D and 1 more
A global defect in scaling relationship between electrical activity and availability of muscle sodium channels in hyperkalemic periodic paralysis.
Pflugers Archiv : European journal of physiology | 1999-07-01 | PMID 10370108
Melamed-Frank M, Marom S
Genetic analysis of steel and the PG-M/versican-encoding gene AxPG as candidates for the white (d) pigmentation mutant in the salamander Ambystoma mexicanum.
Development genes and evolution | 1999-06-01 | PMID 10370116
Parichy D M, Stigson M, Voss S R
A system to efficiently maintain embryonic lethal mutations in the flour beetle Tribolium castaneum.
Development genes and evolution | 1999-06-01 | PMID 10370121
Berghammer A, Bucher G, Maderspacher F and 1 more
Differential expression of two nonallelic MyoD genes in developing and adult myotomal musculature of the trout (Oncorhynchus mykiss).
Development genes and evolution | 1999-07-01 | PMID 10370127
Delalande J M, Rescan P Y
Patterning motoneurons in the vertebrate nervous system.
Trends in neurosciences | 1999-07-01 | PMID 10370257
Eisen J S
Bruton's tyrosine kinase controls a sustained calcium signal essential for B lineage development and function.
Clinical immunology (Orlando, Fla.) | 1999-06-01 | PMID 10370369
Rawlings D J
Genes: BCR
Correlation of thymic pathology with HLA in myasthenia gravis.
Clinical immunology (Orlando, Fla.) | 1999-06-01 | PMID 10370374
Machens A, Löliger C, Pichlmeier U and 3 more
Phenotype and cytokine profile of Schistosoma mansoni specific T cell lines and clones derived from schistosomiasis patients with distinct clinical forms.
Clinical immunology (Orlando, Fla.) | 1999-06-01 | PMID 10370380
Contigli C, Silva-Teixeira D N, Del Prete G and 7 more
Reappraisal of K-ras and p53 gene mutations in the recurrence of Dukes' B2 rectal cancer after curative resection.
Hepato-gastroenterology | 2000-01-01 | PMID 10370622
Liang J T, Cheng Y M, Chang K J and 2 more
Sinusoidal lymphocytes of liver graft may limit the recurrence of hepatic tumor in liver transplant recipients.
Annals of transplantation | 1998-01-01 | PMID 10370800
Durowicz S, Dłuzniewska J, Laszuk D and 2 more
Behavior and pituitary-adrenal function in large white and Meishan pigs.
Domestic animal endocrinology | 1999-05-01 | PMID 10370859
Désautés C, Sarrieau A, Caritez J C and 1 more
The contribution of molecular genetics in the diagnosis and management of neuromuscular disorders.
Scandinavian journal of rehabilitation medicine. Supplement | 1999-01-01 | PMID 10370969
Kakulas B A, Laing N G, Johnsen R D
Prevalence of primary HIV drug resistance among seroconverters during an explosive outbreak of HIV infection among injecting drug users.
AIDS (London, England) | 1999-05-28 | PMID 10371180
Alexander C S, Dong W, Schechter M T and 5 more
Addressing substrate glutamine requirements for tissue transglutaminase using substance P analogues.
FEBS letters | 1999-05-28 | PMID 10371195
Pastor M T, Diez A, Pérez-Payá E and 1 more
Identification of cold-sensitive mutations in the Schizosaccharomyces pombe actin locus.
FEBS letters | 1999-05-28 | PMID 10371213
McCollum D, Balasubramanian M, Gould K
Surface-modified mutants of cytochrome P450cam: enzymatic properties and electrochemistry.
FEBS letters | 1999-05-28 | PMID 10371217
Lo K K, Wong L L, Hill H A
Refinement of the dentinogenesis imperfecta type II locus to an interval of less than 2 centiMorgans at chromosome 4q21 and the creation of a yeast artificial chromosome contig of the critical region.
Journal of dental research | 1999-06-01 | PMID 10371252
Aplin H M, Hirst K L, Dixon M J
Genetic linkage of the dentinogenesis imperfecta type III locus to chromosome 4q.
Journal of dental research | 1999-06-01 | PMID 10371253
MacDougall M, Jeffords L G, Gu T T and 6 more
Genes: DMP1
Positive association of the HLA DMB1*0101-0101 genotype with rheumatoid arthritis.
Rheumatology (Oxford, England) | 1999-05-01 | PMID 10371284
Perdriger A, Guggenbuhl P, Chalès G and 5 more
Glutathione-S-transferase polymorphisms and risk of squamous-cell carcinoma of the head and neck.
International journal of cancer | 1999-06-21 | PMID 10371337
Cheng L, Sturgis E M, Eicher S A and 3 more
Genes: GSTM1, GSTT1
Novel indications for BRCA1 screening using individual clinical and morphological features.
International journal of cancer | 1999-06-21 | PMID 10371344
Eisinger F, Noguès C, Guinebretière J M and 9 more
Genes: BRCA1
Patient-specific mutation databases for oral cancer.
International journal of cancer | 1999-06-21 | PMID 10371348
Partridge M, Emilion G, Falworth M and 4 more
Genes: DCC
Mutational analysis of the p73 gene in human breast cancers.
International journal of cancer | 1999-06-21 | PMID 10371354
Shishikura T, Ichimiya S, Ozaki T and 9 more
The Gly460Trp variant of alpha-adducin is not associated with hypertension in white Anglo-Australians.
American journal of hypertension | 1999-06-01 | PMID 10371374
Wang W Y, Adams D J, Glenn C L and 1 more
The heritability of alcoholism symptoms: "indicators of genetic and environmental influence in alcohol-dependent individuals" revisited.
Alcoholism, clinical and experimental research | 1999-05-01 | PMID 10371393
Slutske W S, True W R, Scherrer J F and 6 more
Inhibition of HIV replication by dominant negative mutants of Sam68, a functional homolog of HIV-1 Rev.
Nature medicine | 1999-06-01 | PMID 10371501
Reddy T R, Xu W, Mau J K and 6 more
A subtype of sporadic prion disease mimicking fatal familial insomnia.
Neurology | 1999-06-10 | PMID 10371520
Parchi P, Capellari S, Chin S and 7 more
Genes: PRNP
Immunoglobulin G Fc-receptor (FcgammaR) IIA and IIIB polymorphisms related to disability in MS.
Neurology | 1999-06-10 | PMID 10371522
Myhr K M, Raknes G, Nyland H and 1 more
High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2.
Neurology | 1999-06-10 | PMID 10371528
Denier C, Ducros A, Vahedi K and 17 more
Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.
Neurology | 1999-06-10 | PMID 10371530
Timmerman V, De Jonghe P, Ceuterick C and 7 more
Genes: EGR2, MPZ, PMP22
Relevance of interleukin 1 receptor antagonist intron 2 polymorphism in Italian MS patients.
Neurology | 1999-06-10 | PMID 10371542
Sciacca F L, Ferri C, Vandenbroeck K and 11 more
Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene.
Neurology | 1999-06-10 | PMID 10371545
Sue C M, Tanji K, Hadjigeorgiou G and 10 more
Genes: UCN
Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group.
Neurology | 1999-06-10 | PMID 10371548
Oberstein S A, Ferrari M D, Bakker E and 5 more
Influence of RecA on in vivo virulence and Shiga toxin 2 production in Escherichia coli pathogens.
Microbial pathogenesis | 1999-07-01 | PMID 10371706
Fuchs S, Mühldorfer I, Donohue-Rolfe A and 5 more
Half of the variation in susceptibility to mortality is genetic: findings from Swedish twin survival data.
Behavior genetics | 1999-01-01 | PMID 10371754
Yashin A I, Iachine I A, Harris J R
Cytoplasmic factors do not contribute to a maternal effect on ethanol teratogenesis.
Behavior genetics | 1999-01-01 | PMID 10371756
Downing C, Gilliam D
Selective breeding for high and low alcohol preference in mice.
Behavior genetics | 1999-01-01 | PMID 10371758
Grahame N J, Li T K, Lumeng L
[Genetics of kidney diseases and renal fibrosis].
Bulletin de l'Academie nationale de medecine | 1999-01-01 | PMID 10371765
Grünfeld J P, Chauveau D, Joly D and 1 more
[Genotype, serotype and sensitivity to fluconazole of Candida albicans strains isolated from HIV-positive patients].
Bulletin de l'Academie nationale de medecine | 1999-01-01 | PMID 10371777
Bastide J M, Pujol C, Mallié M and 1 more
Genetics and cardiovascular risk: a role for apolipoprotein(a) polymorphism.
Cardiologia (Rome, Italy) | 1999-04-01 | PMID 10371786
Gazzaruso C, Garzaniti A, Geroldi D and 1 more
[Tracing of patients with familial hypercholesterolemia in the Netherlands].
Nederlands tijdschrift voor geneeskunde | 1999-05-29 | PMID 10371839
Umans-Eckenhausen M A, Defesche J C, Scheerder R L and 2 more
[Ischemic cardiopathy in the hypertensive].
Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology | 1999-04-01 | PMID 10371847
da Silva J D
Depressogenic cognitive styles: predictive validity, information processing and personality characteristics, and developmental origins.
Behaviour research and therapy | 1999-06-01 | PMID 10372466
Alloy L B, Abramson L Y, Whitehouse W G and 5 more
HLA class II haplotypes in primary sclerosing cholangitis patients from five European populations.
Tissue antigens | 1999-05-01 | PMID 10372541
Spurkland A, Saarinen S, Boberg K M and 13 more
CD28/CTLA4 gene region on chromosome 2q33 confers genetic susceptibility to celiac disease. A linkage and family-based association study.
Tissue antigens | 1999-05-01 | PMID 10372542
Holopainen P, Arvas M, Sistonen P and 4 more
Genes: CTLA4, NPL
Novel HLA-A and HLA-B alleles in South American Indians.
Tissue antigens | 1999-05-01 | PMID 10372543
Marcos C Y, Fernández-Viña M A, Lázaro A M and 3 more
A DNA-based detection and screening system for identifying HLA class I expression variants by sequence-specific primers.
Tissue antigens | 1999-05-01 | PMID 10372545
Bunce M, Procter J, Welsh K I
Characterization of a novel HLA-A2 variant, A*02012, in the Southern Thai-Muslim population.
Tissue antigens | 1999-05-01 | PMID 10372546
Scheltinga S A, van der Zwan A W, Mongkolsuk T and 3 more
Identification of a new variant, HLA-Cw*1507, differing from Cw*1502 only at the KIR-related dimorphism of codons 77 and 80.
Tissue antigens | 1999-05-01 | PMID 10372548
Day S, van Dam M, Buckland E and 2 more
A novel HLA-DR12 allele (DRB1*1206) found in a Korean B-cell line.
Tissue antigens | 1999-05-01 | PMID 10372549
Maeng C Y, Kim K H, Kang J H and 2 more
Analysis of coding sequences for tissue inhibitor of metalloproteinases 1 (TIMP1) and 2 (TIMP2) in patients with aneurysms.
Matrix biology : journal of the International Society for Matrix Biology | 1999-04-01 | PMID 10372551
Wang X, Tromp G, Cole C W and 4 more
Genes: TIMP2, TIMP1
Complete genomic structure of the mouse cathepsin K gene (Ctsk) and its localization next to the Arnt gene on mouse chromosome 3.
Matrix biology : journal of the International Society for Matrix Biology | 1999-04-01 | PMID 10372556
Rantakokko J, Kiviranta R, Eerola R and 2 more
Testing for the BRCA1 and BRCA2 breast-ovarian cancer susceptibility genes: a decision analysis.
Medical decision making : an international journal of the Society for Medical Decision Making | 2000-01-01 | PMID 10372578
Tengs T O, Winer E P, Paddock S and 2 more
Genes: BRCA1, BRCA2
Bone mineral mass and calcium and phosphate metabolism in young men: relationships with vitamin D receptor allelic polymorphisms.
The Journal of clinical endocrinology and metabolism | 1999-06-01 | PMID 10372708
Ferrari S, Manen D, Bonjour J P and 2 more
Genes: VDR, PTH
Linkage and association of the sodium potassium-adenosine triphosphatase alpha2 and beta1 genes with respiratory quotient and resting metabolic rate in the Québec Family Study.
The Journal of clinical endocrinology and metabolism | 1999-06-01 | PMID 10372716
Katzmarzyk P T, Rankinen T, Pérusse L and 5 more
Inhibition of growth hormone (GH) secretion by a mutant GH-I gene product in neuroendocrine cells containing secretory granules: an implication for isolated GH deficiency inherited in an autosomal dominant manner.
The Journal of clinical endocrinology and metabolism | 1999-06-01 | PMID 10372722
Hayashi Y, Yamamoto M, Ohmori S and 3 more
Genetic heterogeneity in familial nonmedullary thyroid carcinoma: exclusion of linkage to RET, MNG1, and TCO in 56 families. NMTC Consortium.
The Journal of clinical endocrinology and metabolism | 1999-06-01 | PMID 10372725
Lesueur F, Stark M, Tocco T and 6 more
Genes: RET
Expression of the members of the Ptx family of transcription factors in human pituitary adenomas.
The Journal of clinical endocrinology and metabolism | 1999-06-01 | PMID 10372733
Pellegrini-Bouiller I, Manrique C, Gunz G and 6 more
Analysis of mutations in genes of the follicle-stimulating hormone receptor signaling pathway in ovarian granulosa cell tumors.
The Journal of clinical endocrinology and metabolism | 1999-06-01 | PMID 10372736
Ligtenberg M J, Siers M, Themmen A P and 3 more
Discovery of a Met300Val variant in Shc and studies of its relationship to birth weight and length, impaired insulin secretion, insulin resistance, and type 2 diabetes mellitus.
The Journal of clinical endocrinology and metabolism | 1999-06-01 | PMID 10372739
Almind K, Ahlgren M G, Hansen T and 3 more
Cardiovascular and neurological toxicity of venlafaxine.
Human & experimental toxicology | 1999-05-01 | PMID 10372752
Blythe D, Hackett L P
Vitamin D and the parathyroid.
The American journal of the medical sciences | 1999-06-01 | PMID 10372835
Beckerman P, Silver J
Genes: PTH
Rett syndrome and genetic drift.
Brain & development | 1999-04-01 | PMID 10372903
Bühler E M, Malik N J, Alkan M
Evidence for distinct signaling properties and biological responses induced by the PDGF receptor alpha and beta subtypes.
Growth factors (Chur, Switzerland) | 1999-01-01 | PMID 10372961
Rosenkranz S, Kazlauskas A
Mutant herpes simplex virus-mediated suppression of retinoblastoma.
Current eye research | 1999-05-01 | PMID 10372992
Kogishi J, Miyatake S, Hangai M and 3 more
Provisional QTL for circadian period of wheel running in laboratory mice: quantitative genetics of period in RI mice.
Chronobiology international | 1999-05-01 | PMID 10373097
Hofstetter J R, Possidente B, Mayeda A R
Preventing neurodegeneration in the Drosophila mutant bubblegum.
Science (New York, N.Y.) | 1999-06-18 | PMID 10373116
Min K T, Benzer S
Requirement for croquemort in phagocytosis of apoptotic cells in Drosophila.
Science (New York, N.Y.) | 1999-06-18 | PMID 10373118
Franc N C, Heitzler P, Ezekowitz R A and 1 more
Factor V Leiden and thermolabile methylenetetrahydrofolate reductase gene variants in an East Anglian preeclampsia cohort.
Hypertension (Dallas, Tex. : 1979) | 1999-06-01 | PMID 10373212
O'Shaughnessy K M, Fu B, Ferraro F and 3 more
beta-2 Adrenergic receptor variants affect resting blood pressure and agonist-induced vasodilation in young adult Caucasians.
Hypertension (Dallas, Tex. : 1979) | 1999-06-01 | PMID 10373227
Gratze G, Fortin J, Labugger R and 6 more
High stress responsivity predicts later blood pressure only in combination with positive family history and high life stress.
Hypertension (Dallas, Tex. : 1979) | 1999-06-01 | PMID 10373233
Light K C, Girdler S S, Sherwood A and 4 more
The even-skipped locus is contained in a 16-kb chromatin domain.
Developmental biology | 1999-07-01 | PMID 10373303
Sackerson C, Fujioka M, Goto T
Dorsal-ventral patterning defects in the eye of BF-1-deficient mice associated with a restricted loss of shh expression.
Developmental biology | 1999-07-01 | PMID 10373304
Huh S, Hatini V, Marcus R C and 2 more
Socket cells mediate spicule morphogenesis in Caenorhabditis elegans males.
Developmental biology | 1999-07-01 | PMID 10373307
Jiang L I, Sternberg P W
Chamber-specific cardiac expression of Tbx5 and heart defects in Holt-Oram syndrome.
Developmental biology | 1999-07-01 | PMID 10373308
Bruneau B G, Logan M, Davis N and 4 more
Genes: TBX5
Spag4, a novel sperm protein, binds outer dense-fiber protein Odf1 and localizes to microtubules of manchette and axoneme.
Developmental biology | 1999-07-01 | PMID 10373309
Shao X, Tarnasky H A, Lee J P and 2 more
Zebrafish genetic map with 2000 microsatellite markers.
Genomics | 1999-06-15 | PMID 10373319
Shimoda N, Knapik E W, Ziniti J and 7 more