Tuberous sclerosis type 1: three novel mutations detected in exon 15 by a combination of HDA and TGGE.
Human mutation | 2000-07-01 | PMID 10874311
Hass J, Mayer K, Rott H D
Genes: TSC1, TSC2
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 1356 of 10600
Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type ia, including novel mutations K76N, V166A and 540del5.
Human mutation | 2000-07-01 | PMID 10874313
Kozák L, Francová H, Hrabincová E and 3 more
Identification of PATCHED mutations in medulloblastomas by direct sequencing.
Human mutation | 2000-07-01 | PMID 10874314
Dong J, Gailani M R, Pomeroy S L and 2 more
Enzymatic mutation detection (EMD) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII.
Human mutation | 2000-07-01 | PMID 10874320
Youil R, Toner T J, Bull E and 4 more
Genes: EMD, FBN1
Before the storm: informing and involving stakeholder groups in workplace biomarker monitoring.
Journal of public health policy | 1999-01-01 | PMID 10874405
Musham C, Trettin L, Jablonski R
Deletion polymorphism of angiotensin-converting enzyme gene is associated with postprandial hyperglycaemia in individuals undergoing general check-up.
Clinical and experimental pharmacology & physiology | 2000-07-01 | PMID 10874503
Ohishi M, Rakugi H, Miki T and 11 more
Genes: ACE
The genetics of Graves' disease.
Endocrinology and metabolism clinics of North America | 2000-06-01 | PMID 10874528
Gough S C
The genetics of Hashimoto's disease.
Endocrinology and metabolism clinics of North America | 2000-06-01 | PMID 10874534
Barbesino G, Chiovato L
The impact of the factor V Leiden mutation on pregnancy.
Human reproduction update | 2000-01-01 | PMID 10874575
Spina V, Aleandri V, Morini F
Genes: APC
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.
Journal of medical genetics | 1999-06-01 | PMID 10874630
Beales P L, Elcioglu N, Woolf A S and 2 more
Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus.
Journal of medical genetics | 1999-06-01 | PMID 10874631
Rozet J M, Gerber S, Ghazi I and 7 more
Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome.
Journal of medical genetics | 1999-06-01 | PMID 10874632
Kusz K, Kotecki M, Wojda A and 5 more
Genes: SRY
An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands.
Journal of medical genetics | 1999-06-01 | PMID 10874633
Preece M A, Abu-Amero S N, Ali Z and 4 more
Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome.
Journal of medical genetics | 1999-06-01 | PMID 10874637
Coucke P J, Van Hauwe P, Everett L A and 10 more
Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes.
Journal of medical genetics | 1999-06-01 | PMID 10874638
Botta A, Novelli G, Mari A and 7 more
Genes: FZD3
A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome).
Journal of medical genetics | 1999-06-01 | PMID 10874640
Brooks A S, Breuning M H, Osinga J and 5 more
Genes: EDNRB, EDN3, GDNF, RET
CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia.
Journal of medical genetics | 1999-06-01 | PMID 10874641
Ruiz A, Puig S, Malvehy J and 7 more
Genes: CDK4
Allelotype analysis of intrahepatic cholangiocarcinoma.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc | 2000-06-01 | PMID 10874666
Kang Y K, Kim Y I, Kim W H
"High risk" HPV types are frequently detected in potentially malignant and malignant oral lesions, but not in normal oral mucosa.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc | 2000-06-01 | PMID 10874669
Bouda M, Gorgoulis V G, Kastrinakis N G and 8 more
Evolution of microbial pathogens.
Philosophical transactions of the Royal Society of London. Series B, Biological sciences | 2000-05-29 | PMID 10874741
Morschhäuser J, Köhler G, Ziebuhr W and 3 more
Identification of an Arg403Gln beta myosin heavy chain gene mutation in a Portuguese family with hypertrophic cardiomyopathy.
Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology | 2000-04-01 | PMID 10874840
Gonçalves L M, Vieira M, Faro C and 3 more
Modulation between aerobic and anaerobic metabolism in the mutant cell line CdtR-Q.
Bollettino della Societa italiana di biologia sperimentale | 2000-01-01 | PMID 10874983
Lofrumento D D, Panaro M A, Mitolo V
[Extrapyramidal side effects of neuroleptic and antidepressant treatment: assessment of potential risk factors through CYP2D6 genetic polymorphism].
L'Encephale | 2000-01-01 | PMID 10875063
Reggiani K, Vandel P, Haffen E and 3 more
Transgenic analysis of the response of the rat calbindin-D 9k gene to vitamin D.
Endocrinology | 2000-07-01 | PMID 10875229
Colnot S, Ovejero C, Romagnolo B and 4 more
Regulation of insulin secretion by overexpression of Ca2+/calmodulin-dependent protein kinase II in insulinoma MIN6 cells.
Endocrinology | 2000-07-01 | PMID 10875234
Tabuchi H, Yamamoto H, Matsumoto K and 7 more
Effects of leptin receptor mutation on Agrp gene expression in fed and fasted lean and obese (LA/N-faf) rats.
Endocrinology | 2000-07-01 | PMID 10875247
Korner J, Wardlaw S L, Liu S M and 3 more
A targeted partial invalidation of the insulin-like growth factor I receptor gene in mice causes a postnatal growth deficit.
Endocrinology | 2000-07-01 | PMID 10875258
Holzenberger M, Leneuve P, Hamard G and 4 more
The two tumor necrosis factor receptors mediate opposite effects on differentiation and glucose metabolism in human adipocytes in primary culture.
Endocrinology | 2000-07-01 | PMID 10875261
Hube F, Hauner H
Genes: TNF
An age-related ovarian phenotype in mice with targeted disruption of the Cyp 19 (aromatase) gene.
Endocrinology | 2000-07-01 | PMID 10875266
Britt K L, Drummond A E, Cox V A and 5 more
Deficient mineralization of intramembranous bone in vitamin D-24-hydroxylase-ablated mice is due to elevated 1,25-dihydroxyvitamin D and not to the absence of 24,25-dihydroxyvitamin D.
Endocrinology | 2000-07-01 | PMID 10875271
St-Arnaud R, Arabian A, Travers R and 8 more
Vegetative incompatibility in filamentous fungi: a roundabout way of understanding the phenomenon.
Research in microbiology | 2000-05-01 | PMID 10875280
Loubradou G, Turcq B
Entry of Rhizobium leguminosarum bv.viciae into root hairs requires minimal Nod factor specificity, but subsequent infection thread growth requires nodO or nodE.
Molecular plant-microbe interactions : MPMI | 2000-07-01 | PMID 10875336
Walker S A, Downie J A
Zinc-induced neuronal death in cortical neurons.
Cellular and molecular biology (Noisy-le-Grand, France) | 2000-06-01 | PMID 10875441
Lobner D, Canzoniero L M, Manzerra P and 9 more
Presence of 2',5'-Bis-O-(tert-butyldimethylsilyl)-3'-spiro-5"-(4"-amino-1",2"-oxath iole-2",2"-dioxide) (TSAO)-resistant virus strains in TSAO-inexperienced HIV patients.
AIDS research and human retroviruses | 2000-06-10 | PMID 10875608
Van Laethem K, Schmit J C, Pelemans H and 17 more
Molecular characterization of a recombinant HIV type 1 isolate (A/G/E/?): unidentified regions may be derived from parental subtype E sequences.
AIDS research and human retroviruses | 2000-06-10 | PMID 10875610
Paraskevis D, Magiorkinis M, Paparizos V and 2 more
Determinants for the syncytium-inducing phenotype of HIV-1 subtype F isolates are located in the V3 region.
AIDS research and human retroviruses | 2000-06-10 | PMID 10875612
Holm-Hansen C, Baan E, Asjö B and 3 more
Critical role of enhanced CD4 affinity in laboratory adaptation of human immunodeficiency virus type 1.
AIDS research and human retroviruses | 2000-06-10 | PMID 10875613
Platt E J, Kozak S L, Kabat D
Genes: CXCR4
Nucleotide sequence analyses of partial envgp46 gene of human T-lymphotropic virus type I from inhabitants of Fujian Province in Southeast China.
AIDS research and human retroviruses | 2000-06-10 | PMID 10875617
Cao F, Ji Y, Huang R and 2 more
Comparison of plasma FSH concentration in boars and gilts from lines selected for ovulation rate and embryonal survival, and litter size and estimation of (co)variance components for FSH and ovulation rate.
Journal of animal science | 2000-06-01 | PMID 10875623
Cassady J P, Johnson R K, Ford J J
Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens.
Human reproduction (Oxford, England) | 2000-07-01 | PMID 10875853
Casals T, Bassas L, Egozcue S and 8 more
Genes: CFTR
Maturation phenotype of Sertoli cells in testicular biopsies of azoospermic men.
Human reproduction (Oxford, England) | 2000-07-01 | PMID 10875862
Bar-Shira Maymon B, Paz G, Elliott D J and 6 more
Non-reproductive heritable disorders in infertile couples and their first degree relatives.
Human reproduction (Oxford, England) | 2000-07-01 | PMID 10875875
Meschede D, Lemcke B, Behre H M and 3 more
Histological and genetic analysis and risk assessment for chromosomal aberration after ICSI for patients presenting with CBAVD.
Human reproduction (Oxford, England) | 2000-07-01 | PMID 10875876
Viville S, Warter S, Meyer J M and 4 more
Genes: CFTR
A domain in TNF receptors that mediates ligand-independent receptor assembly and signaling.
Science (New York, N.Y.) | 2000-06-30 | PMID 10875917
Chan F K, Chun H J, Zheng L and 3 more
Genes: TNF
Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations.
Science (New York, N.Y.) | 2000-06-30 | PMID 10875918
Siegel R M, Frederiksen J K, Zacharias D A and 5 more
Malaria parasite development in a Drosophila model.
Science (New York, N.Y.) | 2000-06-30 | PMID 10875925
Schneider D, Shahabuddin M
Expression analysis of phenylketonuria mutations. Effect on folding and stability of the phenylalanine hydroxylase protein.
The Journal of biological chemistry | 2000-09-22 | PMID 10875932
Gámez A, Pérez B, Ugarte M and 1 more
Genes: PAH
Insect globin gene polymorphisms: intronic minisatellites and a retroposon interrupting exon 1 of homologous globin genes in Chironomus (Diptera).
Gene | 2000-06-27 | PMID 10876092
Gruhl M C, Scherbik S V, Aimanova K G and 3 more
Stress-reactivity and juvenile hormone degradation in Drosophila melanogaster strains having stress-related mutations.
Insect biochemistry and molecular biology | 2000-01-01 | PMID 10876121
Gruntenko N E, Wilson T G, Monastirioti M and 1 more
Study of cytochrome bo function in Vitreoscilla using a cyo(-) knockout mutant.
Journal of biochemistry | 2000-07-01 | PMID 10876157
Kim K J, Chi P Y, Hwang K W and 2 more
Structure-specific effects of thyroxine analogs on human liver 3 alpha-hydroxysteroid dehydrogenase.
Journal of biochemistry | 2000-07-01 | PMID 10876166
Yamamoto T, Nozaki A, Shintani S and 3 more
Two SecG molecules present in a single protein translocation machinery are functional even after crosslinking.
Journal of biochemistry | 2000-07-01 | PMID 10876167
Nagamori S, Nishiyama K, Tokuda H
Variable expressivity of familial medullary thyroid carcinoma (FMTC) due to a RET V804M (GTG-->ATG) mutation.
Surgery | 2000-07-01 | PMID 10876191
Feldman G L, Edmonds M W, Ainsworth P J and 7 more
Genes: RET
Rational design of faster associating and tighter binding protein complexes.
Nature structural biology | 2000-07-01 | PMID 10876236
Selzer T, Albeck S, Schreiber G
Crystal structure of the bacterial conjugation repressor finO.
Nature structural biology | 2000-07-01 | PMID 10876242
Ghetu A F, Gubbins M J, Frost L S and 1 more
Systematic circular permutation of an entire protein reveals essential folding elements.
Nature structural biology | 2000-07-01 | PMID 10876245
Iwakura M, Nakamura T, Yamane C and 1 more
Multistep mechanism of substrate binding determines chaperone activity of Hsp70.
Nature structural biology | 2000-07-01 | PMID 10876246
Mayer M P, Schröder H, Rüdiger S and 3 more
Isomerization of a binary sigma-promoter DNA complex by transcription activators.
Nature structural biology | 2000-07-01 | PMID 10876247
Cannon W V, Gallegos M T, Buck M
Structure of the human anti-apoptotic protein survivin reveals a dimeric arrangement.
Nature structural biology | 2000-07-01 | PMID 10876248
Verdecia M A, Huang H, Dutil E and 3 more
Aggressive basal cell carcinoma in young patients: fact or fiction?
British journal of plastic surgery | 2000-07-01 | PMID 10876275
Milroy C J, Horlock N, Wilson G D and 1 more
[Mutation analysis of the beta-catenin gene in epithelial carcinomas of the ovaries].
Orvosi hetilap | 2000-05-21 | PMID 10876313
Tanyi J, Páy A, Rigó J and 2 more
Genes: CTNNB1
Larval behavior of Drosophila central complex mutants: interactions between no bridge, foraging, and Chaser.
Journal of neurogenetics | 1996-12-01 | PMID 10876652
Varnam C J, Strauss R, Belle J S and 1 more
Icebox, a recessive X-linked mutation in Drosophila causing low sexual receptivity.
Journal of neurogenetics | 1997-11-01 | PMID 10876654
Kerr C, Ringo J, Dowse H and 1 more
[Analysis of MS31A in Chinese using MVR-PCR].
Yi chuan xue bao = Acta genetica Sinica | 1999-01-01 | PMID 10876658
Chen S, Huang X L, Hu L and 2 more
[Role of mutations in the A-subunit of Acholeplasma laidlawii PG-8B topoisomerase IV in formation of resistance to fluoroquinolones].
Molekuliarnaia genetika, mikrobiologiia i virusologiia | 2000-01-01 | PMID 10876765
Taganov K D, Gushchin A E, Abramycheva N Iu and 1 more
[Mobilization of a cryptic plasmid from the melioidosis pathogen in heterologous species of microorganisms].
Molekuliarnaia genetika, mikrobiologiia i virusologiia | 2000-01-01 | PMID 10876767
Merinova L K, Antonov V A, Zamaraev V S and 1 more
[Noncapsular mutants of Vibrio cholerae serogroup O139: their isolation, identification and use for the preparation of an O139 diagnostic antiserum].
Zhurnal mikrobiologii, epidemiologii i immunobiologii | 2000-01-01 | PMID 10876889
Chekhovskaia G V, Shchelkanova E Iu, Smirnova N I
[The properties of Escherichia isolated from the bodies of mice in bacterial translocation after immobilization stress].
Zhurnal mikrobiologii, epidemiologii i immunobiologii | 2000-01-01 | PMID 10876890
Gritsenko V A, Brudastov Iu A, Zhurlov O S and 1 more
[The potentials for the laboratory diagnosis of infections caused by bacteria in the genus Campylobacter].
Zhurnal mikrobiologii, epidemiologii i immunobiologii | 2000-01-01 | PMID 10876909
Vorob'ev A A, Sichinskiĭ L A, Dratvin S A
[The ecological determinacy of the intraspecies diversity of pathogenic bacteria].
Zhurnal mikrobiologii, epidemiologii i immunobiologii | 2000-01-01 | PMID 10876910
Bukharin O V, Gritsenko V A
Sequence variation of two hypervariable short tandem repeats at the D22S683 and D6S477 loci.
International journal of legal medicine | 2000-01-01 | PMID 10876985
Barral S, Lareu M V, Salas A and 1 more
Genes: TCTA
Mitochondrial heteroplasmy among maternally related individuals.
International journal of legal medicine | 2000-01-01 | PMID 10876987
Lutz S, Weisser H J, Heizmann J and 1 more
Population data on 6 short tandem repeat loci in a sample of Caucasian-Mestizos from Colombia.
International journal of legal medicine | 2000-01-01 | PMID 10876992
Yunis J J, García O, Uriarte I and 1 more
The polymorphisms of various short tandem repeats on the Y chromosome in Japanese and German populations.
International journal of legal medicine | 2000-01-01 | PMID 10876994
Sasaki M, Dahiya R
Y-chromosomal STR haplotypes in a population sample from Bavaria.
International journal of legal medicine | 2000-01-01 | PMID 10876995
Anslinger K, Keil W, Weichhold G and 1 more
The impact of the CYP2D6 and CYP2C19 genotypes on venlafaxine pharmacokinetics in a Japanese population.
European journal of clinical pharmacology | 2000-05-01 | PMID 10877013
Fukuda T, Nishida Y, Zhou Q and 3 more
Relationship between branching density and crystalline structure of A- and B-type maize mutant starches.
Carbohydrate research | 2000-06-02 | PMID 10877096
Gérard C, Planchot V, Colonna P and 1 more
Characterization by phenotype of families with atopic dermatitis.
Acta dermato-venereologica | 2000-01-01 | PMID 10877129
Bradley M, Kockum I, Söderhäll C and 4 more
Hospital-acquired adenovirus 7h infantile respiratory infection in Chile.
The Pediatric infectious disease journal | 2000-06-01 | PMID 10877167
Palomino M A, Larrañaga C, Avendaño L F
Lack of association between carotid intima-media thickness and methylenetetrahydrofolate reductase gene polymorphism or serum homocysteine in non-insulin-dependent diabetes mellitus.
Metabolism: clinical and experimental | 2000-06-01 | PMID 10877195
Mazza A, Motti C, Nulli A and 5 more
Genes: MTHFR
Associations of leptin with body fat distribution and metabolic parameters in non-insulin-dependent diabetic patients: no effect of apolipoprotein E polymorphism.
Metabolism: clinical and experimental | 2000-06-01 | PMID 10877196
Wauters M, Considine R, Löfgren A and 4 more
Association of primary biliary cirrhosis with vitamin D receptor BsmI genotype polymorphism in a Hungarian population.
Digestive diseases and sciences | 2000-06-01 | PMID 10877221
Halmos B, Szalay F, Cserniczky T and 6 more
Effects of brown midrib 3 mutation in corn silage on productivity of dairy cows fed two concentrations of dietary neutral detergent fiber: 1. Feeding behavior and nutrient utilization.
Journal of dairy science | 2000-06-01 | PMID 10877399
Oba M, Allen M S
Effects of brown midrib 3 mutation in corn silage on productivity of dairy cows fed two concentrations of dietary neutral detergent fiber: 2. Chewing activities.
Journal of dairy science | 2000-06-01 | PMID 10877400
Oba M, Allen M S
Effects of brown midrib 3 mutation in corn silage on productivity of dairy cows fed two concentrations of dietary neutral detergent fiber: 3. Digestibility and microbial efficiency.
Journal of dairy science | 2000-06-01 | PMID 10877401
Oba M, Allen M S
Factors affecting the shape of lactation curves of Holstein cows from the Balikesir Province of Turkey.
Journal of dairy science | 2000-06-01 | PMID 10877405
Tekerli M, Akinci Z, Dogan I and 1 more
Associations between casein haplotypes and milk production traits of Swiss Brown cattle.
Journal of dairy science | 2000-06-01 | PMID 10877406
Braunschweig M, Hagger C, Stranzinger G and 1 more
Compound heterozygous mutations (PHE53/54DEL and HIS373LEU) of the P450c17 gene result in a 17alpha-hydroxylase/17,20-lyase deficient male pseudohermaphrodite with unambiguous external genitalia.
The Tohoku journal of experimental medicine | 2000-04-01 | PMID 10877510
Uehara S, Sato J, Nishiyama Y and 6 more
Host range variability in the transfer of antibiotic resistance determinants from Pseudomonas aeruginosa strains.
Journal of chemotherapy (Florence, Italy) | 2000-06-01 | PMID 10877513
Blahová J, Králiková K, Krcméry V and 1 more
Beta-lactamase patterns and betalactam/clavulanic acid resistance in Escherichia coli isolated from fecal samples from healthy volunteers.
Journal of chemotherapy (Florence, Italy) | 2000-06-01 | PMID 10877515
Gulay Z, Bicmen M, Amyes S G and 1 more
VRE in the Republic of Ireland: clinical significance, characteristics and molecular similarity of isolates.
The Journal of hospital infection | 2000-04-01 | PMID 10877622
Nourse C, Byrne C, Kaufmann M and 5 more
Spread of methicillin-resistant Staphylococcus aureus belonging to the Brazilian epidemic clone in a general hospital and emergence of heterogenous resistance to glycopeptide antibiotics among these isolates.
The Journal of hospital infection | 2000-04-01 | PMID 10877623
dos Santos Soares M J, da Silva-Carvalho M C, Ferreira-Carvalho B T and 1 more
Development. PARallels in axis formation.
Science (New York, N.Y.) | 2000-06-09 | PMID 10877696
Morris J, Lehmann R, Navarro C
3-year suppression of HIV viremia with indinavir, zidovudine, and lamivudine.
Annals of internal medicine | 2000-07-04 | PMID 10877738
Gulick R M, Mellors J W, Havlir D and 11 more
Genes expressed in Pseudomonas putida during colonization of a plant-pathogenic fungus.
Applied and environmental microbiology | 2000-07-01 | PMID 10877766
Lee S W, Cooksey D A
Phosphorylation of nucleosides by the mutated acid phosphatase from Morganella morganii.
Applied and environmental microbiology | 2000-07-01 | PMID 10877772
Mihara Y, Utagawa T, Yamada H and 1 more
The common nodulation genes of Astragalus sinicus rhizobia are conserved despite chromosomal diversity.
Applied and environmental microbiology | 2000-07-01 | PMID 10877796
Zhang X X, Turner S L, Guo X W and 6 more
Roles of Fe superoxide dismutase and catalase in resistance of Campylobacter coli to freeze-thaw stress.
Applied and environmental microbiology | 2000-07-01 | PMID 10877815
Stead D, Park S F
Viral mutation accelerated by nitric oxide production during infection in vivo.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology | 2000-07-01 | PMID 10877838
Akaike T, Fujii S, Kato A and 8 more
Influence of FAD structure on its binding and activity with the C406A mutant of recombinant human liver monoamine oxidase A.
The Journal of biological chemistry | 2000-07-07 | PMID 10877844
Nandigama R K, Edmondson D E