Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling.
European journal of human genetics : EJHG | 1999-09-01 | PMID 10482961
Ausems M G, Verbiest J, Hermans M P and 6 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 1203 of 10600
The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.
European journal of human genetics : EJHG | 1999-09-01 | PMID 10482962
Veiga-da-Cunha M, Gerin I, Chen Y T and 6 more
Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene.
European journal of human genetics : EJHG | 1999-09-01 | PMID 10482963
Larsen L A, Fosdal I, Andersen P S and 4 more
Genes: KCNQ1
Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1alpha gene: implications for predictive testing.
European journal of human genetics : EJHG | 1999-09-01 | PMID 10482964
Miedzybrodzka Z, Hattersley A T, Ellard S and 4 more
Influence of parental history of hypertension on blood pressure.
Journal of human hypertension | 1999-09-01 | PMID 10482973
Lascaux-Lefebvre V, Ruidavets J, Arveiler D and 6 more
Axl expression is associated with adverse prognosis and with expression of Bcl-2 and CD34 in de novo acute myeloid leukemia (AML): results from a multicenter trial of the Swiss Group for Clinical Cancer Research (SAKK).
Leukemia | 1999-09-01 | PMID 10482985
Rochlitz C, Lohri A, Bacchi M and 6 more
Frequent allelic loss of the RB, D13S319 and D13S25 locus in myeloid malignancies with deletion/translocation at 13q14 of chromosome 13, but not in lymphoid malignancies.
Leukemia | 1999-09-01 | PMID 10482987
Tanaka K, Arif M, Eguchi M and 6 more
Molecular and immunological dissection of diffuse large B cell lymphoma: CD5+, and CD5- with CD10+ groups may constitute clinically relevant subtypes.
Leukemia | 1999-09-01 | PMID 10482997
Harada S, Suzuki R, Uehira K and 10 more
Genes: BCL2, BCL6
High throughput fluorescent CE-SSCP SNP genotyping.
Molecular psychiatry | 1999-07-01 | PMID 10483050
Gonen D, Veenstra-VanderWeele J, Yang Z and 2 more
Autosome search for schizophrenia susceptibility genes in multiply affected families.
Molecular psychiatry | 1999-07-01 | PMID 10483052
Rees M I, Fenton I, Williams N M and 17 more
Identification of four variants in the tryptophan hydroxylase promoter and association to behavior.
Molecular psychiatry | 1999-07-01 | PMID 10483053
Rotondo A, Schuebel K, Bergen A and 5 more
Dopamine D4 receptor (D4DR) and serotonin transporter promoter (5-HTTLPR) polymorphisms in the determination of temperament in 2-month-old infants.
Molecular psychiatry | 1999-07-01 | PMID 10483054
Auerbach J, Geller V, Lezer S and 4 more
Genes: NBAS
Potential role of the estrogen receptor gene (ESR1) in anxiety.
Molecular psychiatry | 1999-07-01 | PMID 10483055
Comings D E, Muhleman D, Johnson P and 1 more
Genes: ESR1
Association between low activity serotonin transporter promoter genotype and early onset alcoholism with habitual impulsive violent behavior.
Molecular psychiatry | 1999-07-01 | PMID 10483057
Hallikainen T, Saito T, Lachman H M and 7 more
Genes: HTT
Association of unipolar major depressive disorder with genes of the serotonergic and dopaminergic pathways.
Molecular psychiatry | 1999-07-01 | PMID 10483058
Frisch A, Postilnick D, Rockah R and 10 more
Genes: COMT, DRD4
The epidemiology of lip cancer: a review of global incidence and aetiology.
Oral diseases | 1999-07-01 | PMID 10483063
Moore S, Johnson N, Pierce A and 1 more
Does evolution reduce the body size? A study of the four members of newly evolved nasuta-albomicans complex of Drosophila.
Genetica | 1999-01-01 | PMID 10483088
Harini B P, Ramachandra N B
Fitness of wild-caught Drosophila melanogaster females: allozyme variants of GPDH, ADH, PGM, and EST.
Genetica | 1999-01-01 | PMID 10483089
Ochando M D, Ayala F J
Localization of subtelomeric sequences of human chromosomes 1q, 11p, 13q, and 16q in the higher primates.
Genetica | 1999-01-01 | PMID 10483091
Conte R A, Samonte R V, Verma R S
Genes: PPY
Size and shape heritability in natural populations of Drosophila mediopunctata: temporal and microgeographical variation.
Genetica | 1999-01-01 | PMID 10483092
Bitner-Mathé B C, Klaczko L B
Distribution of transposable elements in Drosophila species.
Genetica | 1999-01-01 | PMID 10483093
Biémont C, Cizeron G
The re-incarnation, re-interpretation and re-demise of the transition probability model.
Journal of biotechnology | 1999-05-28 | PMID 10483104
Koch A L
FLD interacts with CO to affect both flowering time and floral initiation in Arabidopsis thaliana.
Plant & cell physiology | 1999-06-01 | PMID 10483125
Yang C H, Chou M L
(TTA)n repeat polymorphism in the HMG-CoA reductase gene and cholesterolaemia.
VASA. Zeitschrift fur Gefasskrankheiten | 1999-08-01 | PMID 10483321
Hubacek J A, Pistulková H, Valenta Z and 1 more
Variation of 17 RFLP markers on chromosome 13 in southeastern Spain.
Anthropologischer Anzeiger; Bericht uber die biologisch-anthropologische Literatur | 1999-06-01 | PMID 10483480
Fernández-Santander A, Luna F, Moral P
Genetic variability of blood and saliva antigens and serum proteins among subtribes of Mali from Andhra Pradesh, India.
Anthropologischer Anzeiger; Bericht uber die biologisch-anthropologische Literatur | 1999-06-01 | PMID 10483481
Babu B V, Naidu J M
[Hand clasping--an overview].
Anthropologischer Anzeiger; Bericht uber die biologisch-anthropologische Literatur | 1999-06-01 | PMID 10483485
Reiss M
Successful pregnancy outcome in a woman with a gain-of-function mutation of the calcium-sensing receptor. A case report.
The Journal of reproductive medicine | 1999-08-01 | PMID 10483549
Gherman R B, Bowen E, Eggleston M K and 4 more
Expression of urease does not affect the ability of Bordetella bronchiseptica to colonise and persist in the murine respiratory tract.
FEMS microbiology letters | 1999-09-01 | PMID 10483716
McMillan D J, Medina E, Guzmán C A and 1 more
Single-step PCR amplification and enzyme restriction analysis of the entire Helicobacter pylori cytotoxin vacA gene for genetic variability studies.
FEMS microbiology letters | 1999-09-01 | PMID 10483723
Perales G, Sanchez J, Mohar A and 5 more
Increased thermosensitivity associated with topoisomerase I deletion and promoter mutations in Escherichia coli.
FEMS microbiology letters | 1999-09-01 | PMID 10483733
Qi H, Menzel R, Tse-Dinh Y C
Apolipoprotein E isoforms and the development of low and high Braak stages of Alzheimer's disease-related lesions.
Acta neuropathologica | 1999-09-01 | PMID 10483785
Ohm T G, Scharnagl H, März W and 1 more
Apoptosis in experimental rabies in bax-deficient mice.
Acta neuropathologica | 1999-09-01 | PMID 10483787
Jackson A C
Depression and anxiety in Parkinson's disease: possible effect of genetic variation in the serotonin transporter.
Journal of geriatric psychiatry and neurology | 1999-01-01 | PMID 10483924
Menza M A, Palermo B, DiPaola R and 2 more
Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects.
Journal of the American College of Cardiology | 1999-09-01 | PMID 10483966
Swan H, Viitasalo M, Piippo K and 3 more
The deletion genotype of the angiotensin I-converting enzyme is associated with an increased vascular reactivity in vivo and in vitro.
Journal of the American College of Cardiology | 1999-09-01 | PMID 10483967
Henrion D, Benessiano J, Philip I and 9 more
Genes: ACE
Clinical profiles of four large pedigrees with familial dilated cardiomyopathy: preliminary recommendations for clinical practice.
Journal of the American College of Cardiology | 1999-09-01 | PMID 10483968
Crispell K A, Wray A, Ni H and 2 more
Diagnosis of pancreatic cancer by detecting telomerase activity in pancreatic juice: comparison with K-ras mutations.
The American journal of gastroenterology | 1999-09-01 | PMID 10484017
Uehara H, Nakaizumi A, Tatsuta M and 10 more
Human lipoprotein lipase HindIII polymorphism in young patients with myocardial infarction.
Metabolism: clinical and experimental | 1999-09-01 | PMID 10484057
Gambino R, Scaglione L, Alemanno N and 2 more
Genes: CAD, LPL
Expression of rab11a N124I in gastric parietal cells inhibits stimulatory recruitment of the H+-K+-ATPase.
The American journal of physiology | 1999-09-01 | PMID 10484323
Duman J G, Tyagarajan K, Kolsi M S and 2 more
Identification of specific EP receptors responsible for the hemodynamic effects of PGE2.
The American journal of physiology | 1999-09-01 | PMID 10484412
Audoly L P, Tilley S L, Goulet J and 6 more
Role of lipoprotein(a) and apolipoprotein(a) phenotype in atherogenesis: prospective results from the Bruneck study.
Circulation | 1999-09-14 | PMID 10484534
Kronenberg F, Kronenberg M F, Kiechl S and 6 more
Familial aggregation of VO(2max) response to exercise training: results from the HERITAGE Family Study.
Journal of applied physiology (Bethesda, Md. : 1985) | 1999-09-01 | PMID 10484570
Bouchard C, An P, Rice T and 6 more
Elite athletes and the gene for angiotensin-converting enzyme.
Journal of applied physiology (Bethesda, Md. : 1985) | 1999-09-01 | PMID 10484574
Taylor R R, Mamotte C D, Fallon K and 1 more
Genes: ACE
Differential binding of proteins to peroxisomes in rat hepatoma cells: unique association of enzymes involved in isoprenoid metabolism.
Journal of lipid research | 1999-09-01 | PMID 10484604
Gupta S D, Mehan R S, Tansey T R and 4 more
Delayed clearance of postprandial large TG-rich particles in normolipidemic carriers of LPL Asn291Ser gene variant.
Journal of lipid research | 1999-09-01 | PMID 10484613
Mero N, Suurinkeroinen L, Syvänne M and 3 more
Genes: LPL
A functional polymorphism in the apolipoprotein B promoter that influences the level of plasma low density lipoprotein.
Journal of lipid research | 1999-09-01 | PMID 10484616
van 't Hooft F M, Jormsjö S, Lundahl B and 3 more
Mutations in the FASS gene uncouple pattern formation and morphogenesis in Arabidopsis development.
Development (Cambridge, England) | 1994-10-01 | PMID 10484674
Torres-Ruiz R A, Jürgens G
Instability of the EPM1 minisatellite.
Human molecular genetics | 1999-10-01 | PMID 10484766
Larson G P, Ding S, Lafrenière R G and 2 more
Genes: CSTB
Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism.
Human molecular genetics | 1999-10-01 | PMID 10484769
Wilson A, Leclerc D, Rosenblatt D S and 1 more
Mutation -59c-->t in repeat 2 of the LDL receptor promoter: reduction in transcriptional activity and possible allelic interaction in a South African family with familial hypercholesterolaemia.
Human molecular genetics | 1999-10-01 | PMID 10484771
Scholtz C L, Peeters A V, Hoogendijk C F and 6 more
Genes: LDLR
A common polymorphic allele of the human luteinizing hormone beta-subunit gene: additional mutations and differential function of the promoter sequence.
Human molecular genetics | 1999-10-01 | PMID 10484773
Jiang M, Pakarinen P, Zhang F P and 4 more
Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test.
Human molecular genetics | 1999-10-01 | PMID 10484775
Brandt A, Schleithoff L, Jurkat-Rott K and 3 more
Genes: RYR1
Molecular basis of congenital lp(a) deficiency: a frequent apo(a) 'null' mutation in caucasians.
Human molecular genetics | 1999-10-01 | PMID 10484779
Ogorelkova M, Gruber A, Utermann G
Familial medullary thyroid carcinoma: presymptomatic diagnosis and management in children.
The Journal of pediatrics | 1999-09-01 | PMID 10484798
Heptulla R A, Schwartz R P, Bale A E and 2 more
Genes: RET
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
The Journal of pediatrics | 1999-09-01 | PMID 10484807
Kure S, Hou D C, Ohura T and 7 more
Relationship between a GABAA alpha 6 Pro385Ser substitution and benzodiazepine sensitivity.
The American journal of psychiatry | 1999-09-01 | PMID 10484961
Iwata N, Cowley D S, Radel M and 2 more
Association between novelty seeking and the type 4 dopamine receptor gene in a large Finnish cohort sample.
The American journal of psychiatry | 1999-09-01 | PMID 10484963
Ekelund J, Lichtermann D, Järvelin M R and 1 more
Genes: DRD4
Prediction of level of serotonin 2A receptor binding by serotonin receptor 2A genetic variation in postmortem brain samples from subjects who did or did not commit suicide.
The American journal of psychiatry | 1999-09-01 | PMID 10484964
Turecki G, Brière R, Dewar K and 9 more
Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family.
Cancer genetics and cytogenetics | 1999-09-01 | PMID 10484981
Güran S, Tunca Y, Imirzalioğlu N
Genes: GCG
High-resolution mapping and genetic characterization of the Lazy-2 gravitropic mutant of tomato.
The Journal of heredity | 2000-01-01 | PMID 10485138
Behringer F J, Lomax T L
Hypoplasia of the sphenoid sinuses as a diagnostic tool in cystic fibrosis.
Acta radiologica (Stockholm, Sweden : 1987) | 1999-09-01 | PMID 10485235
Eggesbø H B, Eken T, Eiklid K and 1 more
Somatic mutations and intraclonal variations in the rearranged Vkappa genes of B-non-Hodgkin's lymphoma cell lines.
European journal of haematology | 1999-09-01 | PMID 10485273
Gabay C, Ben-Bassat H, Schlesinger M and 1 more
Characterization of the gene encoding the apoprotein of phytochrome B2 in tomato, and identification of molecular lesions in two mutant alleles.
Molecular & general genetics : MGG | 1999-07-01 | PMID 10485280
Kerckhoffs L H, Kelmenson P M, Schreuder M E and 6 more
Genetic interactions between a null allele of the RIT1 gene encoding an initiator tRNA-specific modification enzyme and genes encoding translation factors in Saccharomyces cerevisiae.
Molecular & general genetics : MGG | 1999-07-01 | PMID 10485288
Aström S U, Nordlund M E, Erickson F L and 2 more
Genes: RIT1
Intrachromosomal recombination between direct repeats in Penicillium chrysogenum: gene conversion and deletion events.
Molecular & general genetics : MGG | 1999-07-01 | PMID 10485291
Casqueiro J, Bañuelos O, Gutiérrez S and 2 more
Oxidation of protoporphyrinogen IX in Escherichia coli is mediated by the aerobic coproporphyrinogen oxidase.
Molecular & general genetics : MGG | 1999-07-01 | PMID 10485293
Narita S, Taketani S, Inokuchi H
Linkage analysis by genotyping of sibling populations: a genetic map for the potato cyst nematode constructed using a "pseudo-F2" mapping strategy.
Molecular & general genetics : MGG | 1999-07-01 | PMID 10485294
Rouppe van der Voort J N, van Eck H J, van Zandvoort P M and 3 more
The eff-482 locus of Sinorhizobium meliloti CXM1-105 that influences symbiotic effectiveness consists of three genes encoding an endoglycanase, a transcriptional regulator and an adenylate cyclase.
Molecular & general genetics : MGG | 1999-07-01 | PMID 10485295
Sharypova L A, Yurgel S N, Keller M and 3 more
On the prevention and therapy of prostate cancer by androgen administration.
Cancer research | 1999-09-01 | PMID 10485446
Prehn R T
Mutational analysis of the p63/p73L/p51/p40/CUSP/KET gene in human cancer cell lines using intronic primers.
Cancer research | 1999-09-01 | PMID 10485447
Hagiwara K, McMenamin M G, Miura K and 1 more
Alterations of the PPP1R3 gene in human cancer.
Cancer research | 1999-09-01 | PMID 10485448
Kohno T, Takakura S, Yamada T and 3 more
Genes: PTEN
Four new colon cancer susceptibility loci, Scc6 to Scc9 in the mouse.
Cancer research | 1999-09-01 | PMID 10485458
van Wezel T, Ruivenkamp C A, Stassen A P and 2 more
Genes: APC
Heat shock cognate 70 mutations in sporadic breast carcinoma.
Cancer research | 1999-09-01 | PMID 10485459
Bakkenist C J, Koreth J, Williams C S and 2 more
Absence of genetic alteration at codon 531 of the human c-src gene in 479 advanced colorectal cancers from Japanese and Caucasian patients.
Cancer research | 1999-09-01 | PMID 10485460
Daigo Y, Furukawa Y, Kawasoe T and 8 more
Distinct expression patterns of the p53-homologue p73 in malignant and normal hematopoiesis assessed by a novel real-time reverse transcription-polymerase chain reaction assay and protein analysis.
Cancer research | 1999-09-01 | PMID 10485463
Peters U R, Tschan M P, Kreuzer K A and 5 more
A single targeted Ets2 allele restricts development of mammary tumors in transgenic mice.
Cancer research | 1999-09-01 | PMID 10485465
Neznanov N, Man A K, Yamamoto H and 3 more
Effect of c-kit mutation on prognosis of gastrointestinal stromal tumors.
Cancer research | 1999-09-01 | PMID 10485475
Taniguchi M, Nishida T, Hirota S and 5 more
Genes: KIT
Epistatic modifiers of autoimmunity in a murine model of lupus nephritis.
Immunity | 1999-08-01 | PMID 10485648
Morel L, Tian X H, Croker B P and 1 more
2.8 A resolution crystal structure of human TRAIL, a cytokine with selective antitumor activity.
Immunity | 1999-08-01 | PMID 10485660
Cha S S, Kim M S, Choi Y H and 5 more
Genes: TNF
NF-kappaB is a target of AKT in anti-apoptotic PDGF signalling.
Nature | 1999-09-02 | PMID 10485711
Romashkova J A, Makarov S S
Hemodynamic and metabolic manifestations of acute endotoxin infusion in pigs with and without the malignant hyperthermia mutation.
Anesthesiology | 1999-09-01 | PMID 10485795
Musley S K, Beebe D S, Komanduri V and 2 more
Nuclear export of Far1p in response to pheromones requires the export receptor Msn5p/Ste21p.
Genes & development | 1999-09-01 | PMID 10485850
Blondel M, Alepuz P M, Huang L S and 3 more
Why hunter-gatherer populations do not show signs of pleistocene demographic expansions.
Proceedings of the National Academy of Sciences of the United States of America | 1999-09-14 | PMID 10485871
Excoffier L, Schneider S
The Caulobacter crescentus smc gene is required for cell cycle progression and chromosome segregation.
Proceedings of the National Academy of Sciences of the United States of America | 1999-09-14 | PMID 10485882
Jensen R B, Shapiro L
Modeling evolutionary landscapes: mutational stability, topology, and superfunnels in sequence space.
Proceedings of the National Academy of Sciences of the United States of America | 1999-09-14 | PMID 10485887
Bornberg-Bauer E, Chan H S
A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis.
Proceedings of the National Academy of Sciences of the United States of America | 1999-09-14 | PMID 10485894
Barbieri A M, Lupo G, Bulfone A and 9 more
Genes: VAX2
The molecular clock of HIV-1 unveiled through analysis of a known transmission history.
Proceedings of the National Academy of Sciences of the United States of America | 1999-09-14 | PMID 10485898
Leitner T, Albert J
Linkage disequilibrium test implies a large effective population number for HIV in vivo.
Proceedings of the National Academy of Sciences of the United States of America | 1999-09-14 | PMID 10485899
Rouzine I M, Coffin J M
Deletion of Ku86 causes early onset of senescence in mice.
Proceedings of the National Academy of Sciences of the United States of America | 1999-09-14 | PMID 10485901
Vogel H, Lim D S, Karsenty G and 2 more
Differential protease-mediated turnover of H-NS and StpA revealed by a mutation altering protein stability and stationary-phase survival of Escherichia coli.
Proceedings of the National Academy of Sciences of the United States of America | 1999-09-14 | PMID 10485902
Johansson J, Uhlin B E
Targeted gene disruption reveals an essential role for ceruloplasmin in cellular iron efflux.
Proceedings of the National Academy of Sciences of the United States of America | 1999-09-14 | PMID 10485908
Harris Z L, Durley A P, Man T K and 1 more
Identification of a pathogenicity island, which contains genes for virulence and avirulence, on a large native plasmid in the bean pathogen Pseudomonas syringae pathovar phaseolicola.
Proceedings of the National Academy of Sciences of the United States of America | 1999-09-14 | PMID 10485919
Jackson R W, Athanassopoulos E, Tsiamis G and 7 more
Vacuolating cytotoxin (vacA) alleles of Helicobacter pylori comprise two geographically widespread types, m1 and m2, and have evolved through limited recombination.
Current microbiology | 1999-10-01 | PMID 10486057
Atherton J C, Sharp P M, Cover T L and 5 more
Ring chromosome 9 with a 9p22.3-p24.3 duplication.
European journal of pediatrics | 1999-10-01 | PMID 10486077
Seghezzi L, Maraschio P, Bozzola M and 4 more
Spondylo-epimetaphyseal dysplasia: a new X-linked variant with mental retardation.
European journal of pediatrics | 1999-10-01 | PMID 10486082
Bieganski T, Dawydzik B, Kozlowski K
Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.
European journal of pediatrics | 1999-10-01 | PMID 10486093
Lissens W, Vreken P, Barth P G and 6 more
Genome evolution of tobacco mosaic virus populations during long-term passaging in a diverse range of hosts.
Archives of virology | 1999-01-01 | PMID 10486107
Kearney C M, Thomson M J, Roland K E
Spontaneous BHV1 recombinants in which the gI/gE/US9 region is replaced by a duplication/inversion of the US1.5/US2 region.
Archives of virology | 1999-01-01 | PMID 10486108
Rijsewijk F A, Verschuren S B, Madić J and 3 more
Evidence that enviroxime targets multiple components of the rhinovirus 14 replication complex.
Archives of virology | 1999-01-01 | PMID 10486111
Brown-Augsburger P, Vance L M, Malcolm S K and 3 more