Spectrum of novel ATP2A2 mutations in patients with Darier's disease.
Human molecular genetics | 1999-09-01 | PMID 10441323
Sakuntabhai A, Burge S, Monk S 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 1186 of 10600
ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class.
Human molecular genetics | 1999-09-01 | PMID 10441324
Ruiz-Perez V L, Carter S A, Healy E and 14 more
ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes.
Human molecular genetics | 1999-09-01 | PMID 10441325
Jacobsen N J, Lyons I, Hoogendoorn B and 5 more
The plasticity of human telomeres demonstrated by a hypervariable telomere repeat array that is located on some copies of 16p and 16q.
Human molecular genetics | 1999-09-01 | PMID 10441326
Coleman J, Baird D M, Royle N J
Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation.
Human molecular genetics | 1999-09-01 | PMID 10441329
Buiakova O I, Xu J, Lutsenko S and 7 more
Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly.
Human molecular genetics | 1999-09-01 | PMID 10441331
Odent S, Atti-Bitach T, Blayau M and 8 more
Genes: SHH
Mapping recombination hotspots in human phosphoglucomutase (PGM1).
Human molecular genetics | 1999-09-01 | PMID 10441333
Yip S P, Lovegrove J U, Rana N A and 2 more
Genes: PGM1
Combined sib-TDT and TDT provide evidence for linkage of the interleukin-1 gene cluster to erosive rheumatoid arthritis.
Human molecular genetics | 1999-09-01 | PMID 10441334
Cox A, Camp N J, Cannings C and 7 more
A two-stage genome scan for schizophrenia susceptibility genes in 196 affected sibling pairs.
Human molecular genetics | 1999-09-01 | PMID 10441337
Williams N M, Rees M I, Holmans P and 10 more
Introduction of heteroplasmic mitochondrial DNA (mtDNA) from a patient with NARP into two human rho degrees cell lines is associated either with selection and maintenance of NARP mutant mtDNA or failure to maintain mtDNA.
Human molecular genetics | 1999-09-01 | PMID 10441339
Vergani L, Rossi R, Brierley C H and 2 more
Genetic modification of hearing in tubby mice: evidence for the existence of a major gene (moth1) which protects tubby mice from hearing loss.
Human molecular genetics | 1999-09-01 | PMID 10441341
Ikeda A, Zheng Q Y, Rosenstiel P and 7 more
Genes: CAST, ABR
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.
Human molecular genetics | 1999-09-01 | PMID 10441342
Kalff-Suske M, Wild A, Topp J and 20 more
Genes: GLI3
French Machado-Joseph disease patients do not exhibit gametic segregation distortion: a sperm typing analysis.
Human molecular genetics | 1999-09-01 | PMID 10441343
Grewal R P, Cancel G, Leeflang E P and 8 more
A genome-wide scan reveals a maternal susceptibility locus for pre-eclampsia on chromosome 2p13.
Human molecular genetics | 1999-09-01 | PMID 10441346
Arngrímsson R, Sigurõardóttir S, Frigge M L and 14 more
Production of acetone butanol ethanol (ABE) by a hyper-producing mutant strain of Clostridium beijerinckii BA101 and recovery by pervaporation.
Biotechnology progress | 2000-01-01 | PMID 10441349
Qureshi N, Blaschek H P
Distinct but dispensable N-glycosylation of human CD69 proteins.
Archives of biochemistry and biophysics | 1999-08-15 | PMID 10441371
Vance B A, Bennett M J, Ward Y and 2 more
Kinetic studies on drug-resistant variants of Escherichia coli thymidylate synthase: functional effects of amino acid substitutions at residue 4.
Archives of biochemistry and biophysics | 1999-08-15 | PMID 10441376
Mahdavian E, Spencer H T, Dunlap R B
Mating types and pheromone recognition in the Homobasidiomycete schizophyllum commune.
Fungal genetics and biology : FG & B | 2000-01-01 | PMID 10441440
Kothe E
Characterization and phosphorylation of PDE10A2, a novel alternative splice variant of human phosphodiesterase that hydrolyzes cAMP and cGMP.
Biochemical and biophysical research communications | 1999-08-11 | PMID 10441464
Kotera J, Fujishige K, Yuasa K and 1 more
JNK/SAPK activation by platelet-derived growth factor in A431 cells requires both the phospholipase C-gamma and the phosphatidylinositol 3-kinase signaling pathways of the receptor.
Biochemical and biophysical research communications | 1999-08-11 | PMID 10441479
Assefa Z, Valius M, Vántus T and 3 more
CYP2A6 gene deletion reduces susceptibility to lung cancer.
Biochemical and biophysical research communications | 1999-08-11 | PMID 10441482
Miyamoto M, Umetsu Y, Dosaka-Akita H and 7 more
Up-regulation of the human gamma-glutamylcysteine synthetase regulatory subunit gene involves binding of Nrf-2 to an electrophile responsive element.
Biochemical and biophysical research communications | 1999-08-11 | PMID 10441483
Moinova H R, Mulcahy R T
Characterization of cybrid cell lines containing mtDNA from Huntington's disease patients.
Biochemical and biophysical research communications | 1999-08-11 | PMID 10441489
Swerdlow R H, Parks J K, Cassarino D S and 4 more
Three new types of Apaf-1 in mammalian cells.
Biochemical and biophysical research communications | 1999-08-11 | PMID 10441496
Hahn C, Hirsch B, Jahnke D and 2 more
Loss of cytoplasmic retention ability of mutant LKB1 found in Peutz-Jeghers syndrome patients.
Biochemical and biophysical research communications | 1999-08-11 | PMID 10441497
Nezu J, Oku A, Shimane M
Genes: STK11
Stress-responsive and developmental regulation of Delta(1)-pyrroline-5-carboxylate synthetase 1 (P5CS1) gene expression in Arabidopsis thaliana.
Biochemical and biophysical research communications | 1999-08-11 | PMID 10441499
Yoshiba Y, Nanjo T, Miura S and 2 more
Defining functional domains of Ku80: DNA end binding and survival after radiation.
Biochemical and biophysical research communications | 1999-08-11 | PMID 10441505
Osipovich O, Duhe R J, Hasty P and 2 more
Molecular cloning and cell-specific growth characterization of polymorphic variants of type D serogroup 2 simian retroviruses.
Virology | 1999-08-15 | PMID 10441555
Marracci G H, Avery N A, Shiigi S M and 7 more
Signature amino acid changes in latent membrane protein 1 distinguish Epstein-Barr virus strains.
Virology | 1999-08-15 | PMID 10441557
Edwards R H, Seillier-Moiseiwitsch F, Raab-Traub N
Domains of glycoprotein H of herpes simplex virus type 1 involved in complex formation with glycoprotein L.
Virology | 1999-08-15 | PMID 10441558
Westra D F, Kuiperij H B, Welling G W and 3 more
Individuals from North America, Australasia, and Africa are infected with four different genotypes of human herpesvirus 8.
Virology | 1999-08-15 | PMID 10441559
Meng Y X, Spira T J, Bhat G J and 9 more
A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV.
American journal of human genetics | 1999-09-01 | PMID 10441567
Bruno C, Martinuzzi A, Tang Y and 9 more
PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders.
American journal of human genetics | 1999-09-01 | PMID 10441568
Liu Y, Björkman J, Urquhart A and 3 more
Genes: PEX13
Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?
American journal of human genetics | 1999-09-01 | PMID 10441569
Ohno K, Brengman J M, Felice K J and 2 more
Genes: COLQ
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.
American journal of human genetics | 1999-09-01 | PMID 10441570
Radhakrishna U, Bornholdt D, Scott H S and 9 more
Genes: GLI3
Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies.
American journal of human genetics | 1999-09-01 | PMID 10441571
Azuma N, Yamaguchi Y, Handa H and 3 more
Genes: NTS, PAX6
Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum.
American journal of human genetics | 1999-09-01 | PMID 10441572
Campion D, Dumanchin C, Hannequin D and 15 more
Genes: APP, PSEN1, PSEN2
Penetrances of BRCA1 1675delA and 1135insA with respect to breast cancer and ovarian cancer.
American journal of human genetics | 1999-09-01 | PMID 10441573
Dørum A, Heimdal K, Hovig E and 2 more
Genes: BRCA1
FMR1 CGG-repeat instability in single sperm and lymphocytes of fragile-X premutation males.
American journal of human genetics | 1999-09-01 | PMID 10441574
Nolin S L, Houck G E, Gargano A D and 3 more
Genes: FMR1
EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas.
American journal of human genetics | 1999-09-01 | PMID 10441575
Bovée J V, Cleton-Jansen A M, Wuyts W and 6 more
Genes: EXT1, EXT2
Polymorphic X-chromosome inactivation of the human TIMP1 gene.
American journal of human genetics | 1999-09-01 | PMID 10441576
Anderson C L, Brown C J
Genes: TIMP1, ELK1, ZNF41
Severe hepatic fibrosis in Schistosoma mansoni infection is controlled by a major locus that is closely linked to the interferon-gamma receptor gene.
American journal of human genetics | 1999-09-01 | PMID 10441577
Dessein A J, Hillaire D, Elwali N E and 8 more
The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27.
American journal of human genetics | 1999-09-01 | PMID 10441579
Leegwater P A, Könst A A, Kuyt B and 6 more
Genetic linkage of hyper-IgE syndrome to chromosome 4.
American journal of human genetics | 1999-09-01 | PMID 10441580
Grimbacher B, Schäffer A A, Holland S M and 16 more
Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1.
American journal of human genetics | 1999-09-01 | PMID 10441581
Mikami M, Yasuda T, Terao A and 8 more
Genes: KCNQ3
A second gene for autosomal dominant Möbius syndrome is localized to chromosome 10q, in a Dutch family.
American journal of human genetics | 1999-09-01 | PMID 10441582
Verzijl H T, van den Helm B, Veldman B and 4 more
A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity.
American journal of human genetics | 1999-09-01 | PMID 10441583
Reid E, Dearlove A M, Rhodes M and 1 more
Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes.
American journal of human genetics | 1999-09-01 | PMID 10441585
Slaugenhaupt S A, Acierno J S, Helbling L A and 5 more
Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome.
American journal of human genetics | 1999-09-01 | PMID 10441586
Brzustowicz L M, Farrell S, Khan M B and 1 more
Genes: GPC3
Heritability of cellular radiosensitivity: a marker of low-penetrance predisposition genes in breast cancer?
American journal of human genetics | 1999-09-01 | PMID 10441587
Roberts S A, Spreadborough A R, Bulman B and 3 more
Interaction between the functional polymorphisms of the alcohol-metabolism genes in protection against alcoholism.
American journal of human genetics | 1999-09-01 | PMID 10441588
Chen C C, Lu R B, Chen Y C and 4 more
Genes: ALDH2
Peopling of Sahul: mtDNA variation in aboriginal Australian and Papua New Guinean populations.
American journal of human genetics | 1999-09-01 | PMID 10441589
Redd A J, Stoneking M
Combined use of biallelic and microsatellite Y-chromosome polymorphisms to infer affinities among African populations.
American journal of human genetics | 1999-09-01 | PMID 10441590
Scozzari R, Cruciani F, Santolamazza P and 14 more
Replication of linkage studies of complex traits: an examination of variation in location estimates.
American journal of human genetics | 1999-09-01 | PMID 10441592
Roberts S B, MacLean C J, Neale M C and 2 more
Blocking Gibbs sampling for linkage analysis in large pedigrees with many loops.
American journal of human genetics | 1999-09-01 | PMID 10441593
Jensen C S, Kong A
Transmitting genetic risk information in families: attitudes about disclosing the identity of relatives.
American journal of human genetics | 1999-09-01 | PMID 10441594
Wilcke J T, Seersholm N, Kok-Jensen A and 1 more
Phenotypic and molecular heterogeneity in fibrodysplasia ossificans progressiva.
Calcified tissue international | 1999-09-01 | PMID 10441661
Virdi A S, Shore E M, Oreffo R O and 5 more
The role of MIP in lens fiber cell membrane transport.
The Journal of membrane biology | 1999-08-01 | PMID 10441663
Varadaraj K, Kushmerick C, Baldo G J and 3 more
Genes: MIP, AQP1
The inheritance of hypertrophic cardiomyopathy.
Pediatric cardiology | 2000-01-01 | PMID 10441682
Burch M, Blair E
Familial association of congenital left heart abnormalities and sustained fetal arrhythmia.
Pediatric cardiology | 2000-01-01 | PMID 10441694
Hajdú J, Marton T, Tóth-Pál E and 1 more
Scraggly, a new hair loss mutation on mouse chromosome 19.
Mammalian genome : official journal of the International Mammalian Genome Society | 1999-09-01 | PMID 10441736
Herron B J, Bryda E C, Heverly S A and 2 more
Genes: CAST
Molecular characterization of radiation- and chemically induced mutations associated with neuromuscular tremors, runting, juvenile lethality, and sperm defects in jdf2 mice.
Mammalian genome : official journal of the International Mammalian Genome Society | 1999-09-01 | PMID 10441737
Walkowicz M, Ji Y, Ren X and 6 more
BB rat diabetes susceptibility and body weight regulation genes colocalize on chromosome 2.
Mammalian genome : official journal of the International Mammalian Genome Society | 1999-09-01 | PMID 10441739
Klaff L S, Koike G, Jiang J and 6 more
Lung cancer and the human gene for ribonucleotide reductase subunit M1 (RRM1).
Mammalian genome : official journal of the International Mammalian Genome Society | 1999-09-01 | PMID 10441745
Pitterle D M, Kim Y C, Jolicoeur E M and 3 more
Genes: RRM1
[Bone density and bone metabolism regulated by vitamin D receptor allele polymorphism in a German study sample].
Zeitschrift fur Orthopadie und ihre Grenzgebiete | 2000-01-01 | PMID 10441835
Baltzer A W, Reinecke J, Wehling P and 2 more
Genes: VDR
[The activity of the neuromediator systems in the cortex and caudate nucleus in rats with different degrees of initial alcohol preference].
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova | 1999-01-01 | PMID 10441866
Dovedova E L
[The risk factors for the development of multiple sclerosis in the Moscow population. II. The combination of exogenous and hereditary factors].
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova | 1999-01-01 | PMID 10441868
Gusev E I, Boĭko A N, Demina T L and 5 more
Genes: TNF
The burden of dementia. A medical and research perspective.
Theoretical medicine and bioethics | 1999-01-01 | PMID 10442050
Antuono P, Beyer J
Heat-induced degradation of PER and TIM in Drosophila bearing a conditional allele of the heat shock transcription factor gene.
Chronobiology international | 1999-07-01 | PMID 10442244
Sidote D, Edery I
The apolipoprotein E epsilon 4 allele increases the risk of drug-induced hallucinations in Parkinson's disease.
Clinical neuropharmacology | 2000-01-01 | PMID 10442253
de la Fuente-Fernández R, Núñez M A, López E
Genes: APOE
[A case of multiple endocrine neoplasia type 2A (MEN2A) with a mutation in the RET gene].
Hinyokika kiyo. Acta urologica Japonica | 1999-06-01 | PMID 10442282
Ishizu K, Shiraishi K, Kawamura H and 5 more
Genes: RET
Validity of screening procedures for glycopeptide-resistant enterococci.
European journal of clinical microbiology & infectious diseases : official publication of the European Society of Clinical Microbiology | 1999-06-01 | PMID 10442420
Wendt C, Krause C, Floss H
Usefulness of genotypic analysis of resistance to nucleoside analogues in the clinical setting.
European journal of clinical microbiology & infectious diseases : official publication of the European Society of Clinical Microbiology | 1999-06-01 | PMID 10442426
Pérez-Olmeda M, Rodríguez-Rosado R, Gómez-Cano M and 2 more
Interdependent action of RalGEF and Erk in Ras-induced primitive endoderm differentiation of F9 embryonal carcinoma cells.
Oncogene | 1999-08-05 | PMID 10442634
Verheijen M H, Wolthuis R M, Defize L H and 2 more
Marfan syndrome: new clues to genotype-phenotype correlations.
Annals of medicine | 1999-06-01 | PMID 10442675
Ramirez F, Gayraud B, Pereira L
Abnormalities of cytokine receptor signalling contributing to diseases of red blood cell production.
Annals of medicine | 1999-06-01 | PMID 10442676
Goyal R K, Longmore G D
Paraoxonase genes and disease.
Annals of medicine | 1999-06-01 | PMID 10442677
Hegele R A
Genes: PON2, PON1, PON3
Schizoaffective disorder in a fragile-X carrier.
The Australian and New Zealand journal of psychiatry | 1999-06-01 | PMID 10442803
Al-Semaan Y, Malla A K, Lazosky A
Structural changes to ribonuclease A and their effects on biological activity.
Comparative biochemistry and physiology. Part C, Pharmacology, toxicology & endocrinology | 1999-06-01 | PMID 10442819
Soucek J, Raines R T, Haugg M and 2 more
Genetic and environmental influences on the relationships between family connectedness, school connectedness, and adolescent depressed mood: sex differences.
Developmental psychology | 1999-07-01 | PMID 10442862
Jacobson K C, Rowe D C
Genetic and environmental origins of verbal and performance components of cognitive delay in 2-year-olds.
Developmental psychology | 1999-07-01 | PMID 10442880
Eley T C, Bishop D V, Dale P S and 8 more
Heterozygosity excess at the cattle DRB locus revealed by large scale genotyping of two closely linked microsatellites.
Animal genetics | 1999-06-01 | PMID 10442977
van Haeringen W A, Gwakisa P S, Mikko S and 5 more
Genetic diversity analysis of six Spanish native cattle breeds using microsatellites.
Animal genetics | 1999-06-01 | PMID 10442978
Martín-Burriel I, García-Muro E, Zaragoza P
Japanese quail microsatellite loci amplified with chicken-specific primers.
Animal genetics | 1999-06-01 | PMID 10442981
Pang S W, Ritland C, Carlson J E and 1 more
Characterization of 18 new BoLA-DRB3 alleles.
Animal genetics | 1999-06-01 | PMID 10442982
Maillard J C, Renard C, Chardon P and 2 more
A diagnostic assay discriminating between two major Ovis aries mitochondrial DNA haplogroups.
Animal genetics | 1999-06-01 | PMID 10442985
Hiendleder S, Phua S H, Hecht W
Applicability of bovine microsatellite markers for population genetic studies on African buffalo (Syncerus caffer).
Animal genetics | 1999-06-01 | PMID 10442986
van Hooft W F, Hanotte O, Wenink P W and 4 more
[Toxic shock-like syndrome in two adults caused by group A beta-hemolytic streptococci].
Nederlands tijdschrift voor geneeskunde | 1999-07-10 | PMID 10443263
Yuen W, Maartense E, Vreede R W
[Brugada syndrome].
Archives des maladies du coeur et des vaisseaux | 1999-07-01 | PMID 10443304
Brugada J, Brugada R, Brugada P
Type 2 diabetes mellitus: association study of five candidate genes in an Indian population of Guadeloupe, genetic contribution of FABP2 polymorphism.
Diabetes & metabolism | 1999-06-01 | PMID 10443326
Boullu-Sanchis S, Leprêtre F, Hedelin G and 4 more
Genes: FABP2, UCP1, VDR
Genetically modified animals in pharmacological research: future trends.
European journal of pharmacology | 1999-06-30 | PMID 10443586
Rudolph U, Möhler H
Progressive decline in insulin levels in Rabson-Mendenhall syndrome.
The Journal of clinical endocrinology and metabolism | 1999-08-01 | PMID 10443650
Longo N, Wang Y, Pasquali M
Impact of gsp oncogene on the expression of genes coding for Gsalpha, Pit-1, Gi2alpha, and somatostatin receptor 2 in human somatotroph adenomas: involvement in octreotide sensitivity.
The Journal of clinical endocrinology and metabolism | 1999-08-01 | PMID 10443675
Barlier A, Pellegrini-Bouiller I, Gunz G and 3 more
Genes: SSTR2
Functional characterization of naturally occurring mutations of the human adrenocorticotropin receptor: poor correlation of phenotype and genotype.
The Journal of clinical endocrinology and metabolism | 1999-08-01 | PMID 10443676
Elias L L, Huebner A, Pullinger G D and 2 more
Mutation analysis reveals novel sequence variants in NTRK1 in sporadic human medullary thyroid carcinoma.
The Journal of clinical endocrinology and metabolism | 1999-08-01 | PMID 10443680
Gimm O, Greco A, Hoang-Vu C and 3 more
Genes: NTRK1, RET
Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation.
The Journal of clinical endocrinology and metabolism | 1999-08-01 | PMID 10443701
Siggaard C, Rittig S, Corydon T J and 7 more
Genes: AVP
Genetic and environmental influences on coping styles: a twin study.
Psychosomatic medicine | 2000-01-01 | PMID 10443755
Busjahn A, Faulhaber H D, Freier K and 1 more
HCV genotyping by three methods: analysis of discordant results based on sequencing.
Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology | 1999-08-01 | PMID 10443788
Furione M, Simoncini L, Gatti M and 3 more
Ganciclovir resistance and UL97 gene mutations in cytomegalovirus blood isolates from patients with AIDS treated with ganciclovir.
Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology | 1999-08-01 | PMID 10443790
Abraham B, Lastere S, Reynes J and 3 more
Normal cochlear function in mdx and mdx(Cv3) Duchenne muscular dystrophy mouse models.
The Laryngoscope | 1999-08-01 | PMID 10443839
Pillers D A, Duncan N M, Dwinnell S J and 3 more
Genes: ABR