High level multiplex genotyping by MALDI-TOF mass spectrometry.
Nature biotechnology | 1998-12-01 | PMID 9853617
Ross P, Hall L, Smirnov I and 1 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 1078 of 10600
Genotyping by mass spectrometric analysis of short DNA fragments.
Nature biotechnology | 1998-12-01 | PMID 9853618
Laken S J, Jackson P E, Kinzler K W and 4 more
Genes: APC
Enhanced long-term potentiation and impaired learning in mice with mutant postsynaptic density-95 protein.
Nature | 1998-12-03 | PMID 9853749
Migaud M, Charlesworth P, Dempster M and 9 more
Genes: PSD
A role of Ultrabithorax in morphological differences between Drosophila species.
Nature | 1998-12-03 | PMID 9853753
Stern D L
HMG-CoA reductase guides migrating primordial germ cells.
Nature | 1998-12-03 | PMID 9853754
Van Doren M, Broihier H T, Moore L A and 1 more
The receptor Msn5 exports the phosphorylated transcription factor Pho4 out of the nucleus.
Nature | 1998-12-03 | PMID 9853758
Kaffman A, Rank N M, O'Neill E M and 2 more
Rapid molecular diagnosis of erythropoietic protoporphyria among Swiss patients.
Clinical chemistry and laboratory medicine | 1998-10-01 | PMID 9853802
Rüfenacht U B, Schneider-Yin X, Schäfer B W and 3 more
Induction of a differentiated ciliated cell phenotype in primary cultures of Fallopian tube epithelium.
Human reproduction (Oxford, England) | 1998-11-01 | PMID 9853867
Comer M T, Leese H J, Southgate J
Genotype-phenotype association in infants with cystic fibrosis at the time of diagnosis.
Pediatric research | 1998-12-01 | PMID 9853928
Kraemer R, Birrer P, Liechti-Gallati S
Identification of a hereditary pancreatitis mutation in four West Virginia families.
Pediatric research | 1998-12-01 | PMID 9853929
Elitsur Y, Chertow B C, Jewell R D and 2 more
Adolescents with alpha1-antitrypsin deficiency have high alpha2-macroglobulin and low neutrophil lipocalin and elastase levels in plasma.
Pediatric research | 1998-12-01 | PMID 9853931
Sveger T, Ohlsson K, Piitulainen E
Genes: SLPI
Ectopic expression of tropomyosin promotes myofibrillogenesis in mutant axolotl hearts.
Developmental dynamics : an official publication of the American Association of Anatomists | 1998-12-01 | PMID 9853962
Zajdel R W, McLean M D, Lemanski S L and 4 more
Gpc3 expression correlates with the phenotype of the Simpson-Golabi-Behmel syndrome.
Developmental dynamics : an official publication of the American Association of Anatomists | 1998-12-01 | PMID 9853964
Pellegrini M, Pilia G, Pantano S and 6 more
Genes: GPC3, IGF2
Impaired growth and differentiation of diploid but not immortal melanoblasts from endothelin receptor B mutant (piebald) mice.
Developmental dynamics : an official publication of the American Association of Anatomists | 1998-12-01 | PMID 9853966
Sviderskaya E V, Easty D J, Bennett D C
Phenol sulphotransferase SULT1A1 polymorphism: molecular diagnosis and allele frequencies in Caucasian and African populations.
The Biochemical journal | 1999-01-01 | PMID 9854023
Coughtrie M W, Gilissen R A, Shek B and 4 more
Blunted feedback suppression of SREBP processing by dietary cholesterol in transgenic mice expressing sterol-resistant SCAP(D443N).
The Journal of clinical investigation | 1998-12-15 | PMID 9854040
Korn B S, Shimomura I, Bashmakov Y and 4 more
Genes: SCAP
Hypotension and reduced nitric oxide-elicited vasorelaxation in transgenic mice overexpressing endothelial nitric oxide synthase.
The Journal of clinical investigation | 1998-12-15 | PMID 9854041
Ohashi Y, Kawashima S, Hirata K i and 7 more
SCID mice containing muscle with human mitochondrial DNA mutations. An animal model for mitochondrial DNA defects.
The Journal of clinical investigation | 1998-12-15 | PMID 9854044
Clark K M, Watt D J, Lightowlers R N and 4 more
Host defense molecule polymorphisms influence the risk for immune-mediated complications in chronic granulomatous disease.
The Journal of clinical investigation | 1998-12-15 | PMID 9854050
Foster C B, Lehrnbecher T, Mol F and 8 more
Genes: MPO, TNF
Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.
The Journal of clinical investigation | 1998-12-15 | PMID 9854053
Tanphaichitr V S, Sumboonnanonda A, Ideguchi H and 5 more
Increasing incidence and comparison of nalidixic acid-resistant Salmonella enterica subsp. enterica serotype typhimurium isolates from humans and animals.
Journal of clinical microbiology | 1999-01-01 | PMID 9854111
Heurtin-Le Corre C, Donnio P Y, Perrin M and 2 more
Endocrine withdrawal syndrome and its relevance to the management of hormone refractory prostate cancer.
European urology | 1998-01-01 | PMID 9854191
Kelly W K
[Congenital heart disease and nuchal translucency with normal karyotype. Report of 3 cases].
Journal de gynecologie, obstetrique et biologie de la reproduction | 1998-10-01 | PMID 9854228
Gicquel J M, Potier A, Camillieri J F and 2 more
ECM signalling: orchestrating cell behaviour and misbehaviour.
Trends in cell biology | 1998-11-01 | PMID 9854310
Lukashev M E, Werb Z
[Epidemiology and risk factors of Alzheimer's disease].
La Revue du praticien | 1998-11-01 | PMID 9854389
Amouyel P
Immunoexpression of mutant p53 and human papillomavirus related E6 oncoprotein in anal malignancies.
Indian journal of experimental biology | 1998-09-01 | PMID 9854426
Gupta S, Sharma B K
Nucleotide sequence of DR-B exon of major histocompatibility complex from an Indian zebu cattle breed.
Indian journal of experimental biology | 1998-09-01 | PMID 9854427
Dechamma H J, Natarajan C, Suryanarayanan V V and 1 more
P53 mutation in advanced stage of primary myelodysplastic syndrome.
Anticancer research | 2000-01-01 | PMID 9854490
Tang J L, Tien H F, Lin M T and 2 more
The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency.
Medicine | 1998-11-01 | PMID 9854602
Maestri N E, Lord C, Glynn M and 2 more
Genes: OTC
Thyroid follicular oncogenesis in iodine-deficient and iodine-sufficient areas: search for alterations of the ras, met and bFGF oncogenes and of the Rb anti-oncogene.
Journal of endocrinological investigation | 1998-11-01 | PMID 9854684
Bartolone L, Vermiglio F, Finocchiaro M D and 5 more
First report of prenatal biochemical diagnosis of Lowe syndrome.
Prenatal diagnosis | 1998-11-01 | PMID 9854717
Suchy S F, Lin T, Horwitz J A and 2 more
Genes: OCRL
Bothrops jararaca snakes produce several bothrojaracin isoforms following an individual pattern.
Comparative biochemistry and physiology. Part B, Biochemistry & molecular biology | 1998-08-01 | PMID 9854824
Monteiro R Q, Dutra D L, Machado O L and 4 more
Genes: SDS
Genetic variation at the STR loci D12S391 and CSF1PO in four populations from Austria, Italy, Egypt and Yemen.
Forensic science international | 1998-10-12 | PMID 9854838
Klintschar M, Ricci U, al Hammadi N and 3 more
DNA short tandem repeat profiling of Chinese population in Taiwan determined by using an automated sequencer.
Forensic science international | 1998-10-12 | PMID 9854839
Pu C E, Wu F C, Cheng C L and 3 more
Genes: FGA
Italian population data on thirteen short tandem repeat loci: HUMTH01, D21S11, D18S51, HUMVWFA31, HUMFIBRA, D8S1179, HUMTPOX, HUMCSF1PO, D16S539, D7S820, D13S317, D5S818, D3S1358.
Forensic science international | 1998-10-12 | PMID 9854840
Garofano L, Pizzamiglio M, Vecchio C and 6 more
Tandem repeat structure of the duplicated Y-chromosomal STR locus DYS385 and frequency studies in the German and three Asian populations.
Forensic science international | 1998-10-12 | PMID 9854841
Schneider P M, Meuser S, Waiyawuth W and 2 more
Molecular characterisation of Cryptosporidium parvum from two large suspected waterborne outbreaks. Outbreak Control Team South and West Devon 1995, Incident Management Team and Further Epidemiological and Microbiological Studies Subgroup North Thames 1997.
Communicable disease and public health | 1998-12-01 | PMID 9854879
Patel S, Pedraza-Díaz S, McLauchlin J and 1 more
Molecular analysis of lacI mutants from transgenic fibroblasts exposed to 1,2-epoxybutene.
Carcinogenesis | 1998-11-01 | PMID 9854997
Saranko C J, Pluta L J, Recio L
Isolation and characterization of a spontaneously transformed malignant mouse mammary epithelial cell line in culture.
Carcinogenesis | 1998-11-01 | PMID 9855001
Bandyopadhyay A, Cibull M L, Sun L Z
Resistance to 6-thioguanine in mismatch repair-deficient human cancer cell lines correlates with an increase in induced mutations at the HPRT locus.
Carcinogenesis | 1998-11-01 | PMID 9855005
Glaab W E, Risinger J I, Umar A and 3 more
Catechol-O-methyltransferase and breast cancer risk.
Carcinogenesis | 1998-11-01 | PMID 9855007
Millikan R C, Pittman G S, Tse C K and 6 more
Genes: COMT
Estrogen treatment enhances hereditary renal tumor development in Eker rats.
Carcinogenesis | 1998-11-01 | PMID 9855022
Wolf D C, Goldsworthy T L, Donner E M and 3 more
Principles of tissue engineering applied to programmable osteogenesis.
Journal of biomedical materials research | 1998-01-01 | PMID 9855197
Brekke J H, Toth J M
Pancreatic cancer associated with granulocyte-colony stimulating factor production confirmed by immunohistochemistry.
Journal of clinical gastroenterology | 1998-12-01 | PMID 9855271
Ohtsubo K, Mouri H, Sakai J and 7 more
Elevated intracellular calcium levels in cerebellar granule neurons of weaver mice.
Neuroreport | 1998-10-26 | PMID 9855287
Womack M, Thompson K, Fanselow E and 2 more
Voltage-activated sodium currents in a cell line expressing a Cu,Zn superoxide dismutase typical of familial ALS.
Neuroreport | 1998-10-26 | PMID 9855309
Zona C, Ferri A, Gabbianelli R and 4 more
Slow allotypic variants of the NAT2 gene and susceptibility to early-onset Parkinson's disease.
Neurology | 1998-12-01 | PMID 9855506
Agúndez J A, Jiménez-Jiménez F J, Luengo A and 9 more
Genes: NAT2
Sleep disturbance in spinocerebellar ataxias: is the SCA3 mutation a cause of restless legs syndrome?
Neurology | 1998-12-01 | PMID 9855509
Schöls L, Haan J, Riess O and 2 more
Inflammatory cytokines inhibit upregulation of glycolipid expression by Schwann cells in vitro.
Neurology | 1998-12-01 | PMID 9855519
Lisak R P, Bealmear B, Benjamins J and 1 more
Fatal familial insomnia: clinical and pathologic heterogeneity in genetic half brothers.
Neurology | 1998-12-01 | PMID 9855529
Johnson M D, Vnencak-Jones C L, McLean M J
Evaluation of the alpha(2A)-adrenergic receptor gene in a heritable form of temporal lobe epilepsy.
Neurology | 1998-12-01 | PMID 9855534
Wilson M H, Puranam R S, Ottman R and 4 more
Mutation, sequence analysis, and association studies of alpha-synuclein in Parkinson's disease.
Neurology | 1998-12-01 | PMID 9855543
Parsian A, Racette B, Zhang Z H and 4 more
A hydrophobic cluster between transmembrane helices 5 and 6 constrains the thyrotropin-releasing hormone receptor in an inactive conformation.
Molecular pharmacology | 1998-12-01 | PMID 9855624
Colson A O, Perlman J H, Jinsi-Parimoo A and 3 more
Genes: TRH
Identification of a glucocorticoid response element in the rat beta2-adrenergic receptor gene.
Molecular pharmacology | 1998-12-01 | PMID 9855630
Cornett L E, Hiller F C, Jacobi S E and 2 more
Cycloguanil and its parent compound proguanil demonstrate distinct activities against Plasmodium falciparum malaria parasites transformed with human dihydrofolate reductase.
Molecular pharmacology | 1998-12-01 | PMID 9855645
Fidock D A, Nomura T, Wellems T E
Genes: DHFR
Clinical significance and molecular mechanisms of bioinactive growth hormone (review).
International journal of molecular medicine | 1998-09-01 | PMID 9855700
Takahashi Y, Chihara K
Ryanodine receptors and their role in genetic diseases (review).
International journal of molecular medicine | 1998-09-01 | PMID 9855701
Leeb T, Brenig B
Genes: RYR1
Suppression of HIV replication by dominant negative mutants of HIV-1 (review).
International journal of molecular medicine | 1998-09-01 | PMID 9855705
Inubushi R, Shimano R, Oshima Y and 3 more
Optimizing drug therapy based on genetic differences: implications for the clinical setting.
AACN clinical issues | 1998-11-01 | PMID 9855860
Prows D R, Prows C A
Genetics and the central nervous system: apolipoprotein E and brain injury.
AACN clinical issues | 1998-11-01 | PMID 9855862
Kerr M E, Kraus M
Genes: APOE
The genetic basis of diabetes mellitus.
AACN clinical issues | 1998-11-01 | PMID 9855864
Morwessel N J
Genetic predisposition to breast and ovarian cancer: a case study.
AACN clinical issues | 1998-11-01 | PMID 9855865
Amlung S, Huelsman K, Skinn B
RFLP mapping of the whole genome of ten viral isolates representative of different biological groups of potato virus Y.
Archives of virology | 1998-01-01 | PMID 9856095
Glais L, Tribodet M, Gauthier J P and 3 more
A thermoresistant strain of feline immunodeficiency virus (FIV) with an altered cytopathic effect and a restricted cell tropism.
Archives of virology | 1998-01-01 | PMID 9856096
Alix C, Koehren F, Martin J P and 2 more
Nucleotide sequence of a resistance breaking mutant of southern bean mosaic virus.
Archives of virology | 1998-01-01 | PMID 9856101
Lee L, Anderson E J
Molecular characterisation of a distinct South African cassava infecting geminivirus.
Archives of virology | 1998-01-01 | PMID 9856107
Berrie L C, Palmer K E, Rybicki E P and 1 more
[Diagnosis of hereditary hemochromatosis with molecular analysis of DNA in patients with anti-HCV positive liver cirrhosis. Clinical case].
Minerva medica | 1998-09-01 | PMID 9856121
Carella A M, Bianco G, Carella M and 1 more
[A successful treatment of drug-resistant depression with electroconvulsive therapy].
Nederlands tijdschrift voor geneeskunde | 1998-09-19 | PMID 9856226
Gieteling M, Hoekstra R, van den Broek W W and 1 more
Association between apolipoprotein(a) polymorphism and Lp(a) levels in Koreans.
Molecules and cells | 1998-10-31 | PMID 9856341
Hong S H, Min W K, Cheon S I and 3 more
Genes: CAD
A site in the dinucleotide-fold domain contributes to the accuracy of tRNA selection by Escherichia coli methionyl-tRNA synthetase.
Molecules and cells | 1998-10-31 | PMID 9856352
Kim H Y, Pak M, Jakubowski H
Structural analysis and evaluation of the 11beta-hydroxysteroid dehydrogenase type 2 (11beta-HSD2) gene in human essential hypertension.
Journal of hypertension | 1998-11-01 | PMID 9856363
Brand E, Kato N, Chatelain N and 7 more
Pax6 controls radial glia differentiation in the cerebral cortex.
Neuron | 1998-11-01 | PMID 9856459
Götz M, Stoykova A, Gruss P
A novel mutation at a probable heme-binding ligand in neutrophil cytochrome b558 in atypical X-linked chronic granulomatous disease.
Human genetics | 1998-10-01 | PMID 9856476
Tsuda M, Kaneda M, Sakiyama T and 5 more
In vivo somatic mutations in Werner's syndrome.
Human genetics | 1998-10-01 | PMID 9856481
Kyoizumi S, Kusunoki Y, Seyama T and 2 more
Genes: WRN, BLM
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.
Human genetics | 1998-10-01 | PMID 9856486
Rosatelli M C, Meloni A, Meloni A and 10 more
Genes: AIRE
Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease.
Human genetics | 1998-10-01 | PMID 9856491
Fujimaru M, Tanaka A, Choeh K and 3 more
Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib.
Human genetics | 1998-10-01 | PMID 9856496
Ihara K, Kuromaru R, Hara T
Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion.
Human genetics | 1998-10-01 | PMID 9856497
Courtens W, Grossman D, Van Roy N and 8 more
The molecular basis of C6 deficiency in the western Cape, South Africa.
Human genetics | 1998-10-01 | PMID 9856498
Hobart M J, Fernie B A, Fijen K A and 1 more
Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes.
Human genetics | 1998-10-01 | PMID 9856499
Fernie B A, Hobart M J
Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome.
Human genetics | 1998-10-01 | PMID 9856504
Lundberg Giwercman Y, Nikoshkov A, Lindsten K and 10 more
Origin and phenotypic features of hyperplastic epithelial cells in collapsing glomerulopathy.
American journal of kidney diseases : the official journal of the National Kidney Foundation | 1998-12-01 | PMID 9856511
Nagata M, Hattori M, Hamano Y and 3 more
Cystic fibrosis and the phenotypic expression of autosomal dominant polycystic kidney disease.
American journal of kidney diseases : the official journal of the National Kidney Foundation | 1998-12-01 | PMID 9856513
O'Sullivan D A, Torres V E, Gabow P A and 3 more
Genes: CFTR, PKD1
Childhood membranous nephropathy, circulating antibodies to the 58-kD TIN antigen, and anti-tubular basement membrane nephritis: an 11-year follow-up.
American journal of kidney diseases : the official journal of the National Kidney Foundation | 1998-12-01 | PMID 9856526
Iványi B, Haszon I, Endreffy E and 6 more
Novel mutations of the glutaryl-CoA dehydrogenase gene in two Japanese patients with glutaric aciduria type I.
American journal of medical genetics | 1998-12-04 | PMID 9856558
Ikeda H, Kimura T, Ikegami T and 6 more
Genes: GCDH
Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation.
American journal of medical genetics | 1998-12-04 | PMID 9856561
Cormand B, Harboe T L, Gort L and 6 more
Frequent loss of imprinting of the H19 and IGF-II genes in ovarian tumors.
American journal of medical genetics | 1998-12-04 | PMID 9856569
Kim H T, Choi B H, Niikawa N and 2 more
Genes: IGF2
Segregation analysis of Parkinson disease.
American journal of medical genetics | 1998-12-04 | PMID 9856574
Zareparsi S, Taylor T D, Harris E L and 1 more
Secondary structure and molecular analysis of interstrain variability in the P5 outer-membrane protein of non-typable Haemophilus influenzae isolated from diverse anatomical sites.
Journal of medical microbiology | 1998-12-01 | PMID 9856641
Webb D C, Cripps A W
Erythroid marrow activity and hemoglobin H levels in hemoglobin H disease.
Journal of pediatric hematology/oncology | 2000-01-01 | PMID 9856674
Papassotiriou I, Traeger-Synodinos J, Kanavakis E and 3 more
Common genetic determinants of halothane and isoflurane potencies in Caenorhabditis elegans.
Anesthesiology | 1998-12-01 | PMID 9856727
van Swinderen B, Galifianakis A, Crowder M
Multiple genetic loci modify risk for retinoblastoma in transgenic mice.
Investigative ophthalmology & visual science | 1998-12-01 | PMID 9856783
Griep A E, Krawcek J, Lee D and 8 more
Effect of tenascin-C deficiency on chemically induced dermatitis in the mouse.
The Journal of investigative dermatology | 1998-12-01 | PMID 9856798
Koyama Y, Kusubata M, Yoshiki A and 4 more
MCP-1 and MIP-1alpha are most efficient in recruiting T cells into the skin in vivo.
The Journal of investigative dermatology | 1998-12-01 | PMID 9856814
Kunstfeld R, Lechleitner S, Wolff K and 1 more
Genes: MIP
CDKN2a/p16INK4a mutations and lack of p19ARF involvement in familial melanoma kindreds.
The Journal of investigative dermatology | 1998-12-01 | PMID 9856841
Fargnoli M C, Chimenti S, Keller G and 4 more
Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations.
The Journal of investigative dermatology | 1998-12-01 | PMID 9856844
Hammami-Hauasli N, Raghunath M, Küster W and 1 more
A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma.
The Journal of investigative dermatology | 1998-12-01 | PMID 9856845
Suga Y, Duncan K O, Heald P W and 1 more
An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1.
The Journal of investigative dermatology | 1998-12-01 | PMID 9856846
Kremer H, Lavrijsen A P, McLean W H and 5 more
Regulation of polar auxin transport by AtPIN1 in Arabidopsis vascular tissue.
Science (New York, N.Y.) | 1998-12-18 | PMID 9856939
Gälweiler L, Guan C, Müller A and 4 more
Genes: PIN1
Requirement for IL-13 independently of IL-4 in experimental asthma.
Science (New York, N.Y.) | 1998-12-18 | PMID 9856950
Grünig G, Warnock M, Wakil A E and 8 more