Identification of NF2 germ-line mutations and comparison with neurofibromatosis 2 phenotypes.
Human genetics | 1996-11-01 | PMID 8882871
Kluwe L, Bayer S, Baser M E and 4 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 770 of 10600
Absence of somatic mosaicism in 17 families with hemophilia B: an analysis with a sensitivity 10- to 1000-fold greater than that of sequencing gels.
Human genetics | 1996-11-01 | PMID 8882872
Knöll A, Ketterling R P, Sommer S S
The apolipoprotein E polymorphism in Greenland Inuit in its global perspective.
Human genetics | 1996-11-01 | PMID 8882873
Gerdes L U, Gerdes C, Hansen P S and 3 more
HindIII DNA polymorphism in the lipoprotein lipase gene and plasma lipid phenotypes and carotid artery atherosclerosis.
Human genetics | 1996-11-01 | PMID 8882874
Chen L, Patsch W, Boerwinkle E
Genes: LPL
Hypertriglyceridemia and the apolipoprotein CIII gene locus: lack of association with the variant insulin response element in Italian school children.
Human genetics | 1996-11-01 | PMID 8882875
Shoulders C C, Grantham T T, North J D and 6 more
Age-dependent penetrance and mapping of the locus for juvenile and early-onset open-angle glaucoma on chromosome 1q (GLC1A) in a French family.
Human genetics | 1996-11-01 | PMID 8882876
Meyer A, Béchetoille A, Valtot F and 7 more
Molecular genetics of familial hypercholesterolemia in Israel.
Human genetics | 1996-11-01 | PMID 8882879
Reshef A, Nissen H, Triger L and 6 more
Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus.
Human genetics | 1996-11-01 | PMID 8882880
Oksche A, Möller A, Dickson J and 4 more
OB gene not linked to human obesity in Mexican American affected sib pairs from Starr County, Texas.
Human genetics | 1996-11-01 | PMID 8882881
Bray M S, Boerwinkle E, Hanis C L
The origin of the most common mutation of adenine phosphoribosyltransferase among Japanese goes back to a prehistoric era.
Human genetics | 1996-11-01 | PMID 8882882
Kamatani N, Terai C, Kim S Y and 5 more
Genes: APRT
Microsatellite instability and mutations of p53 and TGF-beta RII genes in gastric cancer.
Human genetics | 1996-11-01 | PMID 8882883
Renault B, Calistri D, Buonsanti G and 3 more
Simultaneous detection of structural and numerical chromosome abnormalities in sperm of healthy men by multicolor fluorescence in situ hybridization.
Human genetics | 1996-11-01 | PMID 8882884
Van Hummelen P, Lowe X R, Wyrobek A J
Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins.
Human genetics | 1996-11-01 | PMID 8882886
Gaspar C, Lopes-Cendes I, DeStefano A L and 7 more
Dopamine D2, D3 and D4 receptor and transporter gene polymorphisms and mood disorders.
Journal of affective disorders | 1996-09-09 | PMID 8882909
Manki H, Kanba S, Muramatsu T and 9 more
Polymorphisms of the vitamin D receptor gene do not predict quantitative ultrasound of the calcaneus or hip axis length.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA | 1996-01-01 | PMID 8883125
Arden N K, Keen R W, Lanchbury J S and 1 more
Genes: VDR
Ala244Val is a common, probably ancient mutation causing factor VII deficiency in Moroccan and Iranian Jews.
Thrombosis and haemostasis | 1996-09-01 | PMID 8883260
Tamary H, Fromovich Y, Shalmon L and 10 more
A mutant (Arg327-->His) GPIIb associated to thrombasthenia exerts a dominant negative effect in stably transfected CHO cells.
Thrombosis and haemostasis | 1996-09-01 | PMID 8883261
Ferrer M, Fernández-Pinel M, González-Manchón C and 3 more
Genetic characterization of protein C deficiency in Japanese subjects using a rapid and nonradioactive method for single-stand conformational polymorphism analysis and a model building.
Thrombosis and haemostasis | 1996-09-01 | PMID 8883262
Miyata T, Sakata T, Zheng Y Z and 9 more
Genes: EGF
Normal binding of calcium to five fibrinogen variants with mutations in the carboxy terminal part of the gamma-chain.
Thrombosis and haemostasis | 1996-09-01 | PMID 8883274
Furlan M, Stucki B, Steinmann C and 2 more
Two new frequent dimorphisms in the protein S (PROS1) gene.
Thrombosis and haemostasis | 1996-09-01 | PMID 8883276
Mustafa S, Pabinger I, Mannhalter C
Genes: PROS1
Six newly identified HLA-DRB alleles: DRB1*1121, *1419, *1420, *1421, DRB3*0203 and DRB5*0103.
Tissue antigens | 1996-08-01 | PMID 8883296
Verduyn W, Anholts J D, Versluis L F and 7 more
Genes: GCG
HLA-C typing of eleven Papua New Guineans: identification of an HLA-Cw4/Cw2 hybrid allele.
Tissue antigens | 1996-08-01 | PMID 8883300
Little A M, Mason A, Marsh S G and 1 more
Sequence analysis of the complete S genomic segment of a newly identified hantavirus isolated from the white-footed mouse (Peromyscus leucopus): phylogenetic relationship with other sigmodontine rodent-borne hantaviruses.
Virus genes | 1996-01-01 | PMID 8883362
Song J W, Baek L J, Gavrilovskaya I N and 3 more
Sulfur availability and the SAC1 gene control adenosine triphosphate sulfurylase gene expression in Chlamydomonas reinhardtii.
Plant physiology | 1996-10-01 | PMID 8883379
Yildiz F H, Davies J P, Grossman A
Isolation and characterization of mutants of Arabidopsis thaliana with increased resistance to growth inhibition by indoleacetic acid-amino acid conjugates.
Plant physiology | 1996-10-01 | PMID 8883385
Campanella J J, Ludwig-Mueller J, Town C D
Synthesis of small heat-shock proteins is part of the developmental program of late seed maturation.
Plant physiology | 1996-10-01 | PMID 8883386
Wehmeyer N, Hernandez L D, Finkelstein R R and 1 more
Genes: ABI3
Severity of mutant phenotype in a series of chlorophyll-deficient wheat mutants depends on light intensity and the severity of the block in chlorophyll synthesis.
Plant physiology | 1996-10-01 | PMID 8883392
Falbel T G, Meehl J B, Staehelin L A
A comparative study of detection of p53 mutations in human breast cancer by flow cytometry, single-strand conformation polymorphism and genomic sequencing.
British journal of cancer | 1996-10-01 | PMID 8883402
Chakravarty G, Redkar A, Mittra I
1H-magnetic resonance spectroscopic observation of cultured malignant cells pharmacologically induced to different phenotypes.
Academic radiology | 1996-09-01 | PMID 8883515
Nakai T, Ishima R, Sakahara H and 3 more
Quantitative HIV-1 RNA as a marker of clinical stability and survival in a cohort of 302 patients with a mean CD4 cell count of 300 x 10(6)/l.
AIDS (London, England) | 1996-09-01 | PMID 8883577
Ruiz L, Romeu J, Clotet B and 9 more
Selection conditions affect the evolution of specific mutations in the reverse transcriptase gene associated with resistance to DMP 266.
AIDS (London, England) | 1996-09-01 | PMID 8883581
Winslow D L, Garber S, Reid C and 4 more
Spindle cells isolated from Kaposi's sarcoma-like lesions of BKV/tat-transgenic mice co-express markers of different cell types.
AIDS (London, England) | 1996-09-01 | PMID 8883582
Cavallaro U, Gasparini G, Soria M R and 1 more
Analysis of plasmids cloned from a virulent avian Escherichia coli and transformed into Escherichia coli DH5 alpha.
Avian diseases | 2000-01-01 | PMID 8883780
Wooley R E, Gibbs P S, Dickerson H W and 2 more
Genetic susceptibility to Marek's disease virus of local chickens in Taiwan.
Avian diseases | 2000-01-01 | PMID 8883787
Lin J A, Lee T S
Genes: LTB
Susceptibility of pigeons to avian influenza.
Avian diseases | 2000-01-01 | PMID 8883790
Panigrahy B, Senne D A, Pedersen J C and 2 more
Isolation, pathogenicity, and H120 protection efficacy of infectious bronchitis viruses isolated in Taiwan.
Avian diseases | 2000-01-01 | PMID 8883793
Wang C H, Hsieh M C, Chang P C
Sparse distribution of NADPH diaphorase neurons in the hippocampal formation of the inbred mutant strain EL mouse.
Brain research | 1996-08-19 | PMID 8883907
Nagatomo I, Akasaki Y, Kuchiiwa S and 2 more
Phase-shifting effects of a serotonin agonist in tau mutant hamsters.
Brain research | 1996-08-19 | PMID 8883908
Colecchia E F, Penev P D, Zee P C and 1 more
Genes: NPY
New serotype candidate of Neisseria meningitidis.
Central European journal of public health | 1996-09-01 | PMID 8884051
Krízová P, Musílek M, Danielová V and 1 more
Simultaneous detection and screening of T833C and G919A mutations of the cystathionine beta-synthase gene by single-strand conformational polymorphism.
Clinical biochemistry | 1996-10-01 | PMID 8884070
Tsai M Y, Hanson N Q, Bignell M K and 1 more
Genes: CBS
Deletion or triplication of the alpha 3 (VI) collagen gene in three patients with 2q37 chromosome aberrations and symptoms of collagen-related disorders.
Clinical genetics | 1996-06-01 | PMID 8884075
Rauch A, Pfeiffer R A, Trautmann U
Genes: PAX3
Branchio-oto (BO) syndrome and oculo-auriculo-vertebral phenotype: overlapping clinical findings in a child from a BO family.
Clinical genetics | 1996-06-01 | PMID 8884078
Sensi A, Cocchi G, Martini A and 3 more
Interstitial 6q deletion and Prader-Willi-like phenotype.
Clinical genetics | 1996-06-01 | PMID 8884080
Stein C K, Stred S E, Thomson L L and 2 more
Update on Sjögren-Larsson syndrome.
Dermatology (Basel, Switzerland) | 1996-01-01 | PMID 8884139
Lacour M
Genotypic differences in mesolimbic enkephalin gene expression in DBA/2J and C57BL/6J inbred mice.
European journal of pharmacology | 1996-09-05 | PMID 8884235
Ng G Y, O'Dowd B F, George S R
Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B.
Genomics | 1996-09-15 | PMID 8884267
Chen Z Y, Hasson T, Kelley P M and 6 more
Direct complementation of Chlamydomonas mutants with amplified YAC DNA.
Genomics | 1996-09-15 | PMID 8884269
Vashishtha M, Segil G, Hall J L
The high growth (hg) locus maps to a deletion in mouse chromosome 10.
Genomics | 1996-09-15 | PMID 8884282
Horvat S, Medrano J F
Neural variant of fetal rhabdomyoma and naevoid basal cell carcinoma syndrome.
Histopathology | 1996-09-01 | PMID 8884353
Hardisson D, Jimenez-Heffernan J A, Nistal M and 3 more
Immune deficiency in SCID mice.
International reviews of immunology | 1996-01-01 | PMID 8884426
Nonoyama S, Ochs H D
The lambda B cell repertoire of kappa-deficient mice.
International reviews of immunology | 1996-01-01 | PMID 8884431
Sanchez P, Rueff-Juy D, Boudinot P and 2 more
Regulation and function of the mitochondrial genome.
Journal of inherited metabolic disease | 1996-01-01 | PMID 8884568
Jeong-Yu S, Clayton D A
Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex.
Journal of inherited metabolic disease | 1996-01-01 | PMID 8884569
Robinson B H, MacKay N, Chun K and 1 more
Mitochondrial encephalomyopathies: what next?
Journal of inherited metabolic disease | 1996-01-01 | PMID 8884573
DiMauro S
Neurological presentations of mitochondrial diseases.
Journal of inherited metabolic disease | 1996-01-01 | PMID 8884574
Zeviani M, Bertagnolio B, Uziel G
Clinical presentation of mitochondrial disorders in childhood.
Journal of inherited metabolic disease | 1996-01-01 | PMID 8884575
Munnich A, Rötig A, Chretien D and 5 more
Morphological studies of skeletal muscle in lactic acidosis.
Journal of inherited metabolic disease | 1996-01-01 | PMID 8884576
Romero N B, Lombès A, Touati G and 7 more
Neuropathology and pathogenesis of mitochondrial diseases.
Journal of inherited metabolic disease | 1996-01-01 | PMID 8884579
Brown G K, Squier M V
Genetic counselling and prenatal diagnosis in disorders of the mitochondrial energy metabolism.
Journal of inherited metabolic disease | 1996-01-01 | PMID 8884581
Ruitenbeek W, Wendel U, Hamel B C and 1 more
HLA Class II genotypes associated with early-onset periodontitis: DQB1 molecule primarily confers susceptibility to the disease.
Journal of periodontology | 1996-09-01 | PMID 8884646
Ohyama H, Takashiba S, Oyaizu K and 5 more
Sialic acids of both the capsule and the sialylated lipooligosaccharide of Neisseria meningitis serogroup B are prerequisites for virulence of meningococci in the infant rat.
Medical microbiology and immunology | 1996-09-01 | PMID 8884739
Vogel U, Hammerschmidt S, Frosch M
Binding of the V proteins to the nucleocapsid proteins of human parainfluenza type 2 virus.
Medical microbiology and immunology | 1996-09-01 | PMID 8884740
Watanabe N, Kawano M, Tsurudome M and 6 more
Decreased DNA topoisomerase II alpha expression and cold-sensitive growth in a mouse mammary cancer cell line resistant to etoposide and doxorubicin.
Oncology research | 1996-01-01 | PMID 8884812
Kawanami K, Nakamura T, Ono M and 7 more
A rapid method to study heat shock protein 70-2 gene polymorphism in insulin-dependent diabetes mellitus.
Pancreas | 1996-10-01 | PMID 8884848
Chuang L M, Jou T S, Wu H P and 2 more
Bupropion plasma levels and CYP2D6 phenotype.
Therapeutic drug monitoring | 1996-10-01 | PMID 8885123
Pollock B G, Sweet R A, Kirshner M and 1 more
Comparison of the Lewis phenotypes among the different population groups of Taiwan.
Transfusion medicine (Oxford, England) | 1996-09-01 | PMID 8885156
Broadberry R E, Lin M
Neuronal development in the Drosophila compound eye: photoreceptor cells R1, R6, and R7 fail to differentiate in the retina aberrant in pattern (rap) mutant.
Journal of neurobiology | 1996-10-01 | PMID 8885197
Karpilow J M, Pimentel A C, Shamloula H K and 1 more
A major gene for resting metabolic rate unassociated with body composition: results from the Québec Family Study.
Obesity research | 1996-09-01 | PMID 8885208
Rice T, Tremblay A, Dériaz O and 3 more
TGF beta-induced growth inhibition in primary fibroblasts requires the retinoblastoma protein.
Molecular biology of the cell | 1996-09-01 | PMID 8885230
Herrera R E, Mäkelä T P, Weinberg R A
Genes: CDK2, CDK4
The association of annexin I with early endosomes is regulated by Ca2+ and requires an intact N-terminal domain.
Molecular biology of the cell | 1996-09-01 | PMID 8885232
Seemann J, Weber K, Osborn M and 2 more
Genes: EGF
Multiple classes of yeast mutants are defective in vacuole partitioning yet target vacuole proteins correctly.
Molecular biology of the cell | 1996-09-01 | PMID 8885233
Wang Y X, Zhao H, Harding T M and 5 more
CDC37 is required for p60v-src activity in yeast.
Molecular biology of the cell | 1996-09-01 | PMID 8885235
Dey B, Lightbody J J, Boschelli F
Genes: CDC37
Cooperation between the human estrogen receptor (ER) and MCF-7 cell-specific transcription factors elicits high activity of an estrogen-inducible enhancer from the trout ER gene promoter.
Molecular endocrinology (Baltimore, Md.) | 1996-09-01 | PMID 8885246
Lazennec G, Kern L, Salbert G and 2 more
Determination of residues important in hormone binding to the extracellular domain of the luteinizing hormone/chorionic gonadotropin receptor by site-directed mutagenesis and modeling.
Molecular endocrinology (Baltimore, Md.) | 1996-09-01 | PMID 8885249
Bhowmick N, Huang J, Puett D and 2 more
Familial hypertrophic cardiomyopathy: diagnostic and therapeutic implications of recent genetic studies.
Molecular medicine today | 1996-09-01 | PMID 8885258
Bachinski L L, Roberts R
Role of the periplasmic domain of the Escherichia coli NarX sensor-transmitter protein in nitrate-dependent signal transduction and gene regulation.
Molecular microbiology | 1996-09-01 | PMID 8885262
Cavicchioli R, Chiang R C, Kalman L V and 1 more
Two-stage regulation of an anti-sigma factor determines developmental fate during bacterial endospore formation.
Molecular microbiology | 1996-09-01 | PMID 8885263
Kellner E M, Decatur A, Moran C P
Identification of sigma S-dependent genes associated with the stationary-phase acid-resistance phenotype of Shigella flexneri.
Molecular microbiology | 1996-09-01 | PMID 8885264
Waterman S R, Small P L
Activation of stable DNA replication in rapidly growing Escherichia coli at the time of entry to stationary phase.
Molecular microbiology | 1996-09-01 | PMID 8885266
Hong X, Cadwell G W, Kogoma T
Cloning and characterization of bfpTVW, genes required for the transcriptional activation of bfpA in enteropathogenic Escherichia coli.
Molecular microbiology | 1996-09-01 | PMID 8885267
Tobe T, Schoolnik G K, Sohel I and 2 more
Identification of a ClpC ATPase required for stress tolerance and in vivo survival of Listeria monocytogenes.
Molecular microbiology | 1996-09-01 | PMID 8885268
Rouquette C, Ripio M T, Pellegrini E and 4 more
Ferric uptake regulator mutants of Pseudomonas aeruginosa with distinct alterations in the iron-dependent repression of exotoxin A and siderophores in aerobic and microaerobic environments.
Molecular microbiology | 1996-09-01 | PMID 8885270
Barton H A, Johnson Z, Cox C D and 2 more
Exotoxin A production in Pseudomonas aeruginosa requires the iron-regulated pvdS gene encoding an alternative sigma factor.
Molecular microbiology | 1996-09-01 | PMID 8885271
Ochsner U A, Johnson Z, Lamont I L and 2 more
The P1 ParA protein and its ATPase activity play a direct role in the segregation of plasmid copies to daughter cells.
Molecular microbiology | 1996-09-01 | PMID 8885272
Davis M A, Radnedge L, Martin K A and 3 more
Nucleotide sequence and role in DNA amplification of the direct repeats composing the amplifiable element AUD1 of Streptomyces lividans 66.
Molecular microbiology | 1996-09-01 | PMID 8885273
Volff J N, Eichenseer C, Viell P and 2 more
Programmed cell death in bacteria: translational repression by mRNA end-pairing.
Molecular microbiology | 1996-09-01 | PMID 8885274
Franch T, Gerdes K
The cutRS signal transduction system of Streptomyces lividans represses the biosynthesis of the polyketide antibiotic actinorhodin.
Molecular microbiology | 1996-09-01 | PMID 8885276
Chang H M, Chen M Y, Shieh Y T and 2 more
Molecular characterization of group A streptococcal (GAS) oligopeptide permease (opp) and its effect on cysteine protease production.
Molecular microbiology | 1996-09-01 | PMID 8885277
Podbielski A, Pohl B, Woischnik M and 4 more
Salmonella spp. are cytotoxic for cultured macrophages.
Molecular microbiology | 1996-09-01 | PMID 8885278
Chen L M, Kaniga K, Galán J E
Polygenic control of a mating signal in Drosophila.
Heredity | 1996-10-01 | PMID 8885379
Pugh A R, Ritchie M G
Protein and microsatellite single locus variability in Salmo salar L. (Atlantic salmon).
Heredity | 1996-10-01 | PMID 8885382
Sánchez J A, Clabby C, Ramos D and 4 more
On the difficulties of discriminating between major and minor hybrid male sterility factors in Drosophila by examining the segregation ratio of sterile and fertile sons in backcrossing experiments.
Heredity | 1996-10-01 | PMID 8885383
Maside X R, Naveira H F
Motility mutants of Vibrio cholerae O1 have reduced adherence in vitro to human small intestinal epithelial cells as demonstrated by ELISA.
Microbiology (Reading, England) | 1996-10-01 | PMID 8885392
Postnova T, Gómez-Duarte O G, Richardson K
Chemotactic responses to an attractant and a repellent by the polar and lateral flagellar systems of Vibrio alginolyticus.
Microbiology (Reading, England) | 1996-10-01 | PMID 8885393
Homma M, Oota H, Kojima S and 2 more
Isolation of an IHF-deficient mutant of a Pseudomonas aeruginosa mucoid isolate and evaluation of the role of IHF in algD gene expression.
Microbiology (Reading, England) | 1996-10-01 | PMID 8885394
Delic-Attree I, Toussaint B, Froger A and 2 more
Mutants of Streptomyces roseosporus that express enhanced recombination within partially homologous genes.
Microbiology (Reading, England) | 1996-10-01 | PMID 8885396
Hosted T J, Baltz R H
Detection of genetic variation in Ustilago maydis strains by probes derived from telomeric sequences.
Microbiology (Reading, England) | 1996-10-01 | PMID 8885409
Sánchez-Alonso P, Valverde M E, Paredes-López O and 1 more
Genetic effects of contaminant exposure--towards an assessment of impacts on animal populations.
The Science of the total environment | 1996-11-18 | PMID 8885423
Hebert P D, Luiker M M
Craniofacial defects in AP-2 null mutant mice.
BioEssays : news and reviews in molecular, cellular and developmental biology | 1996-10-01 | PMID 8885715
Morriss-Kay G M
Myelin mutants: model systems for the study of normal and abnormal myelination.
BioEssays : news and reviews in molecular, cellular and developmental biology | 1996-10-01 | PMID 8885716
Griffiths I R