Hereditary nonpolyposis colorectal cancer: review of clinical, molecular genetics, and counseling aspects.
American journal of medical genetics | 1996-04-24 | PMID 8723065
Bellacosa A, Genuardi M, Anti M and 2 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 723 of 10600
Hunter-McAlpine craniosynostosis phenotype associated with skeletal anomalies and interstitial deletion of chromosome 17q.
American journal of medical genetics | 1996-04-24 | PMID 8723067
Thomas J A, Manchester D K, Prescott K E and 3 more
The expanding clinical phenotype of the tRNA(Leu(UUR)) A-->G mutation at np 3243 of mitochondrial DNA: diabetic embryopathy associated with mitochondrial cytopathy.
American journal of medical genetics | 1996-04-24 | PMID 8723072
Feigenbaum A, Chitayat D, Robinson B and 4 more
Phenotypic expressions of a Gly 154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD).
American journal of medical genetics | 1996-05-03 | PMID 8723096
Kaitila I, Körkkö J, Marttinen E and 1 more
An alpha 1(II) Gly913 to Cys substitution prevents the matrix incorporation of type II collagen which is replaced with type I and III collagens in cartilage from a patient with hypochondrogenesis.
American journal of medical genetics | 1996-05-03 | PMID 8723098
Mundlos S, Chan D, McGill J and 1 more
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.
American journal of medical genetics | 1996-05-03 | PMID 8723100
Superti-Furga A, Rossi A, Steinmann B and 1 more
Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.
American journal of medical genetics | 1996-05-03 | PMID 8723101
Bonaventure J, Rousseau F, Legeai-Mallet L and 3 more
Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3.
American journal of medical genetics | 1996-05-03 | PMID 8723102
Nerlich A G, Freisinger P, Bonaventure J
Deficient expression of the small proteoglycan decorin in a case of severe/lethal osteogenesis imperfecta.
American journal of medical genetics | 1996-05-03 | PMID 8723103
Dyne K M, Valli M, Forlino A and 3 more
Tracing the pathway between mutation and phenotype in osteogenesis imperfecta: isolation of mineralization-specific genes.
American journal of medical genetics | 1996-05-03 | PMID 8723104
Culbert A A, Wallis G A, Kadler K E
Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p.
American journal of medical genetics | 1996-05-03 | PMID 8723106
von Gernet S, Schuffenhauer S, Golla A and 6 more
The clinical and molecular spectrum of androgen insensitivity syndromes.
American journal of medical genetics | 1996-05-03 | PMID 8723113
Hiort O, Sinnecker G H, Holterhus P M and 2 more
Phenotypic classification of male pseudohermaphroditism due to steroid 5 alpha-reductase 2 deficiency.
American journal of medical genetics | 1996-05-03 | PMID 8723114
Sinnecker G H, Hiort O, Dibbelt L and 9 more
Informative morphogenetic and phenogenetic variants in children with cleft lip/cleft palate.
American journal of medical genetics | 1996-05-03 | PMID 8723125
Pelz L, Amling A
Factors influencing plasma lipid profiles including lipoprotein (a) concentrations in renal transplant recipients.
Transplant international : official journal of the European Society for Organ Transplantation | 1996-01-01 | PMID 8723190
Wheeler D C, Morgan R, Thomas D M and 3 more
Gene-targeting studies of mammalian behavior: is it the mutation or the background genotype?
Trends in neurosciences | 1996-05-01 | PMID 8723200
Gerlai R
Mitochondrial NADH dehydrogenase and CYP2D6 genotypes in Lewy-body parkinsonism.
Journal of neuroscience research | 1996-04-15 | PMID 8723226
Kösel S, Lücking C B, Egensperger R and 2 more
The "epidemic" of breast cancer in the U.S.--determining the factors.
Oncology (Williston Park, N.Y.) | 1996-04-01 | PMID 8723277
King S E, Schottenfeld D
Comparative interaction kinetics of two recombinant Fabs and of the corresponding antibodies directed to the coat protein of tobacco mosaic virus.
Journal of molecular recognition : JMR | 2000-01-01 | PMID 8723318
Chatellier J, Rauffer-Bruyère N, Van Regenmortel M H and 2 more
Wilson disease: genetic basis of copper toxicity and natural history.
Seminars in liver disease | 1996-02-01 | PMID 8723326
Schilsky M L
Drosophila morphogenesis: follow-my-leader in epithelia.
Current biology : CB | 1996-04-01 | PMID 8723337
Knust E
A mechanism of Bud1p GTPase action suggested by mutational analysis and immunolocalization.
Current biology : CB | 1996-04-01 | PMID 8723349
Michelitch M, Chant J
Evidence of genetic heterogeneity in IBD: 1. The interleukin-1 receptor antagonist in the predisposition to suffer from ulcerative colitis.
European journal of gastroenterology & hepatology | 1996-02-01 | PMID 8723412
Bioque G, Bouma G, Crusius J B and 4 more
Alterations in the DNA topoisomerase IV grlA gene responsible for quinolone resistance in Staphylococcus aureus.
Antimicrobial agents and chemotherapy | 1996-05-01 | PMID 8723458
Yamagishi J, Kojima T, Oyamada Y and 4 more
Characterization of streptomycin resistance mechanisms among Mycobacterium tuberculosis isolates from patients in New York City.
Antimicrobial agents and chemotherapy | 1996-05-01 | PMID 8723463
Cooksey R C, Morlock G P, McQueen A and 2 more
Directly repeated insertion of 9-nucleotide sequence detected in penicillin-binding protein 2B gene of penicillin-resistant Streptococcus pneumoniae.
Antimicrobial agents and chemotherapy | 1996-05-01 | PMID 8723477
Yamane A, Nakano H, Asahi Y and 2 more
Multiple antibiotic resistance (mar) locus protects Escherichia coli from rapid cell killing by fluoroquinolones.
Antimicrobial agents and chemotherapy | 1996-05-01 | PMID 8723480
Goldman J D, White D G, Levy S B
Variation in fluconazole efficacy for Candida albicans strains sequentially isolated from oral cavities of patients with AIDS in an experimental murine candidiasis model.
Antimicrobial agents and chemotherapy | 1996-05-01 | PMID 8723495
Barchiesi F, Najvar L K, Luther M F and 3 more
Serpentine fibula syndrome: expansion of the phenotype with three affected siblings.
Clinical dysmorphology | 1996-04-01 | PMID 8723560
Rosser E M, Mann N P, Hall C M and 1 more
Schinzel-Giedion syndrome: further delineation of the phenotype.
Clinical dysmorphology | 1996-04-01 | PMID 8723563
Elliott A M, Meagher-Villemure K, Oudjhane K and 1 more
An unusual presentation of Smith-Magenis syndrome with iris dysgenesis.
Clinical dysmorphology | 1996-04-01 | PMID 8723565
Barnicoat A J, Moller H U, Palmer R W and 2 more
ATSDR evaluation of health effects of chemicals. II. Mirex and chlordecone: health effects, toxicokinetics, human exposure, and environmental fate.
Toxicology and industrial health | 1995-01-01 | PMID 8723616
Faroon O, Kueberuwa S, Smith L and 1 more
[Comparative genetics of representatives of the genus Yersinia and evolution of their pathogenicity].
Genetika | 1996-03-01 | PMID 8723624
Anisimov P I, Mozharov O T
[Selection and properties of totally phage-resistant mutant Pseudomonas putida PpG1].
Genetika | 1996-03-01 | PMID 8723627
Krylov V N, Rasskazchikova S A, Al'nikin A F
[A strain of the yeast Saccharomyces cerevisiae for testing environmental mutagens based on interaction of the mutations rad2 and him1].
Genetika | 1996-03-01 | PMID 8723629
Koval'tsova S V, Korolev V G
[Polymorphism of biochemical markers in European bison (bison bonasus)].
Genetika | 1996-03-01 | PMID 8723630
Sipko T P, Rautian G S, Udina I G and 1 more
[Genetic study of idiopathic torsion dystonia in Russia].
Genetika | 1996-03-01 | PMID 8723633
Dadali E L, Markova E D, Petrin A N and 2 more
[Polymorphism of placental alkaline phosphatase on the level of DNA and protein in the Mordovian population].
Genetika | 1996-03-01 | PMID 8723634
Bekman G, Vennberg K, Bekman L and 2 more
[Mitochondrial DNA variation in native inhabitants of Siberia with reconstructions of the evolutional history of the American Indians. Restriction polymorphism].
Genetika | 1996-03-01 | PMID 8723636
Sukernik R I, Shur T G, Starikovskaia E B and 1 more
[Differential characteristics of the temperature-sensitive period of the lawcp1 mutation on the basis of macrochaetae overexpression in Drosophila].
Genetika | 1996-03-01 | PMID 8723638
Simonova O B, Petruk S F, Korochkin L I
[Effect of a single-locus mutation of the silver-blue color allele in mink on the dopaminergic system of the brain].
Genetika | 1996-03-01 | PMID 8723640
Popova N K, Nikulina E M, Voĭtenko N N and 2 more
The S. cerevisiae outwardly-rectifying potassium channel (DUK1) identifies a new family of channels with duplicated pore domains.
Receptors & channels | 1996-01-01 | PMID 8723646
Reid J D, Lukas W, Shafaatian R and 4 more
Relationship between genotype and phenotype in monogenic diseases: relevance to polygenic diseases.
Human mutation | 1996-01-01 | PMID 8723677
Summers K M
CDKN2A (p16INK4A) somatic and germline mutations.
Human mutation | 1996-01-01 | PMID 8723678
Smith-Sørensen B, Hovig E
Characterization of large CTG repeat expansions in myotonic dystrophy alleles using PCR.
Human mutation | 1996-01-01 | PMID 8723679
Cheng S, Barceló J M, Korneluk R G
Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy.
Human mutation | 1996-01-01 | PMID 8723680
Hess B, Kafert S, Heinisch U and 3 more
Mutation in the carboxy-terminal propeptide of the Pro alpha 1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): possible implications for protein folding.
Human mutation | 1996-01-01 | PMID 8723681
Oliver J E, Thompson E M, Pope F M and 1 more
Mutation of the hMSH2 gene in two families with hereditary nonpolyposis colorectal cancer.
Human mutation | 1996-01-01 | PMID 8723682
Jeon H M, Lynch P M, Howard L and 3 more
Mutations in the BRCA1 gene in Japanese breast cancer patients.
Human mutation | 1996-01-01 | PMID 8723683
Katagiri T, Emi M, Ito I and 7 more
Genes: BRCA1
Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100.
Human mutation | 1996-01-01 | PMID 8723684
Benlian P, de Gennes J L, Dairou F and 8 more
Mutation detection by solid phase primer extension.
Human mutation | 1996-01-01 | PMID 8723685
Shumaker J M, Metspalu A, Caskey C T
A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation.
Genome research | 1996-04-01 | PMID 8723723
Siracusa L D, McGrath R, Ma Q and 5 more
Genes: FBN1
Single nucleotide primer extension: quantitative range, variability, and multiplex analysis.
Genome research | 1996-04-01 | PMID 8723726
Greenwood A D, Burke D T
A comparison of the Ames assay and Mutatox in assessing the mutagenic potential of contaminated dredged sediment.
Ecotoxicology and environmental safety | 1996-03-01 | PMID 8723758
Jarvis A S, Honeycutt M E, McFarland V A and 2 more
Presence of calbindin D28K and GAD67 mRNAs in both orthotopic and ectopic Purkinje cells of staggerer mice suggests that staggerer acts after the onset of cytodifferentiation.
Journal of neuroscience research | 1996-05-01 | PMID 8723764
Frantz G D, Wuenschell C W, Messer A and 1 more
Detailed description of an alpha helix-->pi bulge transition detected by molecular dynamics simulations of the p185c-erbB2 V659G transmembrane domain.
Journal of biomolecular structure & dynamics | 1996-04-01 | PMID 8723771
Duneau J P, Genest D, Genest M
Mutation segregation and rapid carrier detection of X-linked muscular dystrophy in dogs.
American journal of veterinary research | 1996-05-01 | PMID 8723876
Bartlett R J, Winand N J, Secore S L and 9 more
Protection of BALB/c mice against homologous and heterologous species of Brucella by rough strain vaccines derived from Brucella melitensis and Brucella suis biovar 4.
American journal of veterinary research | 1996-05-01 | PMID 8723881
Winter A J, Schurig G G, Boyle S M and 5 more
Genotypes of sarco(endo)plasmic reticulum Ca(2+)-dependent ATPase II gene in substrains of spontaneously hypertensive rats.
Journal of hypertension | 1996-03-01 | PMID 8723980
Ohno Y, Matsuo K, Suzuki H and 4 more
The use of embryo genotyping in the propagation of genes involved in the immune response.
Immunology and cell biology | 1996-04-01 | PMID 8723998
Saberivand A, Outteridge P M
Immunoglobulin allotypes and genetic susceptibility to invasive Haemophilus influenzae type b and Staphylococcus aureus infections in South African children.
The Pediatric infectious disease journal | 1996-05-01 | PMID 8724064
Goddard E A, Beatty D W, Hoffman E B
The effects of the apolipoprotein B signal peptide (ins/del) and XbaI polymorphisms on plasma lipid responses to dietary change.
Atherosclerosis | 1996-04-26 | PMID 8724106
Pajukanta P E, Valsta L M, Aro A and 3 more
Association between the LPL-D9N mutation in the lipoprotein lipase gene and plasma lipid traits in myocardial infarction survivors from the ECTIM Study.
Atherosclerosis | 1996-04-26 | PMID 8724108
Mailly F, Fisher R M, Nicaud V and 9 more
Genes: LPL
Incomplete dominance of type III hyperlipoproteinemia is associated with the rare apolipoprotein E2 (Arg136-->Ser) variant in multigenerational pedigree studies.
Atherosclerosis | 1996-04-26 | PMID 8724110
Pocovi M, Cenarro A, Civeira F and 4 more
Prevalence of hyperapobetalipoproteinemia and factors affecting the phenotype expression in children and young adults. The Cardiovascular Risk in Young Finns Study.
Atherosclerosis | 1996-04-26 | PMID 8724114
Nuotio I O, Porkka K V, Raitakari O T and 5 more
Testosterone-induced suppression of lipoprotein(a) in normal men; relation to basal lipoprotein(a) level.
Atherosclerosis | 1996-04-26 | PMID 8724115
Marcovina S M, Lippi G, Bagatell C J and 1 more
Genetic correlations between lipoprotein phenotypes and indicators of sex hormone levels in Mexican Americans.
Atherosclerosis | 1996-04-26 | PMID 8724118
Jaquish C E, Mahaney M C, Blangero J and 3 more
Genes: SHBG
Defective threonine-linked glycosylation of human insulin-like growth factor in mutants of the yeast Saccharomyces cerevisiae.
Glycobiology | 1996-04-01 | PMID 8724139
Finck M, Bergmann N, Jansson B and 1 more
Allele imbalance at tumour suppressor loci during the indolent phase of follicle centre cell lymphoma.
Leukemia & lymphoma | 1996-06-01 | PMID 8724537
Randerson J, Cawkwell L, Jack A S and 7 more
Genes: APC, DCC
Pupil dilatation assay by tropicamide is modulated by apolipoprotein E epsilon 4 allele dosage in Alzheimer's disease.
Neuroreport | 1996-03-22 | PMID 8724673
Arai H, Terajima M, Nakagawa T and 3 more
Comparative effects of insulin-like growth factor II (IGF-II) and IGF-II mutants specific for IGF-II/CIM6-P or IGF-I receptors on in vitro hematopoiesis.
Stem cells (Dayton, Ohio) | 1996-05-01 | PMID 8724700
Schwartz G N, Warren M K, Sakano K and 5 more
[Analysis of the effect of replacing Lys(-20) in the alkaline phosphatase signal peptide on secretion of this enzyme].
Biokhimiia (Moscow, Russia) | 1996-04-01 | PMID 8724791
Karamysheva Z N, Karamyshev A L, Ksenzenko V N and 1 more
The role of lipids in cardiovascular disease: lessons from rare mutations and special populations.
Clinical and investigative medicine. Medecine clinique et experimentale | 1996-06-01 | PMID 8724819
Hegele R A
Molecular genetic aspects of hyperhomocysteinemia and its relation to folic acid.
Clinical and investigative medicine. Medecine clinique et experimentale | 1996-06-01 | PMID 8724820
Rozen R
Amino acid substitutions in glycoprotein D mediate the ability of fusion from without-positive herpes simplex virus type 1 strains to penetrate at 4 degrees and in the presence of soluble glycoprotein D.
Intervirology | 1995-01-01 | PMID 8724859
Lingen M, Seck T, Dehoust U and 2 more
Genes: ANG
Mutations in the core promoter/enhancer II regions of naturally occurring hepatitis B virus variants and analysis of the effects on transcription activities.
Intervirology | 1995-01-01 | PMID 8724860
Nishizono A, Hiraga M, Kohno K and 5 more
Mutations affecting the cytoplasmic domain of the Moloney murine leukemia virus envelope protein: rapid reversion during replication.
Virus research | 1996-03-01 | PMID 8725100
Granowitz C, Berkowitz R D, Goff S P
Restitution of the UL56 gene expression of HSV-1 HFEM led to restoration of virulent phenotype; deletion of the amino acids 217 to 234 of the UL56 protein abrogates the virulent phenotype.
Virus research | 1996-01-01 | PMID 8725118
Kehm R, Rösen-Wolff A, Darai G
Development and characterization of a conditionally transformed adult human osteoblastic cell line.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research | 1996-06-01 | PMID 8725178
Bodine P V, Trailsmith M, Komm B S
Vitamin D receptor gene polymorphisms are not related to bone turnover, rate of bone loss, and bone mass in postmenopausal women: the OFELY Study.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research | 1996-06-01 | PMID 8725180
Garnero P, Borel O, Sornay-Rendu E and 2 more
Genes: VDR
A mutation in a new gene, bglJ, activates the bgl operon in Escherichia coli K-12.
Genetics | 1996-06-01 | PMID 8725214
Giel M, Desnoyer M, Lopilato J
Genetic divergence and fitness convergence under uniform selection in experimental populations of bacteria.
Genetics | 1996-06-01 | PMID 8725215
Korona R
A search for a general phenomenon of adaptive mutability.
Genetics | 1996-06-01 | PMID 8725216
Galitski T, Roth J R
Suppression analysis reveals a functional difference between the serines in positions two and five in the consensus sequence of the C-terminal domain of yeast RNA polymerase II.
Genetics | 1996-06-01 | PMID 8725217
Yuryev A, Corden J L
The yeast BSD2-1 mutation influences both the requirement for phosphatidylinositol transfer protein function and derepression of phospholipid biosynthetic gene expression in yeast.
Genetics | 1996-06-01 | PMID 8725219
Kagiwada S, Kearns B G, McGee T P and 3 more
Homologous and homeologous intermolecular gene conversion are not differentially affected by mutations in the DNA damage or the mismatch repair genes RAD1, RAD50, RAD51, RAD52, RAD54, PMS1 and MSH2.
Genetics | 1996-06-01 | PMID 8725224
Porter G, Westmoreland J, Priebe S and 1 more
Genes: RAD52, MSH2, PMS1, RAD1, RAD50, RAD51
Transmission genetics of allorecognition in Hydractinia symbiolongicarpus (Cnidaria:Hydrozoa).
Genetics | 1996-06-01 | PMID 8725230
Mokady O, Buss L W
Spontaneous mutational variances and covariances for fitness-related traits in Drosophila melanogaster.
Genetics | 1996-06-01 | PMID 8725231
Fernández J, López-Fanjul C
Age-specific patterns of genetic variance in Drosophila melanogaster. I. Mortality.
Genetics | 1996-06-01 | PMID 8725232
Promislow D E, Tatar M, Khazaeli A A and 1 more
Mutations in the Drosophila melanogaster gene encoding S-adenosylmethionine synthetase [corrected] suppress position-effect variegation.
Genetics | 1996-06-01 | PMID 8725236
Larsson J, Zhang J, Rasmuson-Lestander A
The alcohol dehydrogenase gene is nested in the outspread locus of Drosophila melanogaster.
Genetics | 1996-06-01 | PMID 8725237
McNabb S, Greig S, Davis T
The Drosophila ash1 gene product, which is localized at specific sites on polytene chromosomes, contains a SET domain and a PHD finger.
Genetics | 1996-06-01 | PMID 8725238
Tripoulas N, LaJeunesse D, Gildea J and 1 more
Genes: SET
Isolation of Arabidopsis mutants with enhanced disease susceptibility by direct screening.
Genetics | 1996-06-01 | PMID 8725243
Glazebrook J, Rogers E E, Ausubel F M
Constraints on allele size at microsatellite loci: implications for genetic differentiation.
Genetics | 1996-06-01 | PMID 8725247
Nauta M J, Weissing F J
Distribution of the predominant hepatitis B virus precore variants in hepatitis B e antigen-positive children and their effect on treatment response.
Pediatric research | 1996-06-01 | PMID 8725258
Cabrerizo M, Bartolomé J, Ruiz-Moreno M and 3 more
Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase.
Pediatric research | 1996-06-01 | PMID 8725270
Corydon M J, Gregersen N, Lehnert W and 13 more
Cathepsin A deficiency in galactosialidosis: studies of patients and carriers in 16 families.
Pediatric research | 1996-06-01 | PMID 8725271
Kleijer W J, Geilen G C, Janse H C and 5 more
Ventral neural cadherin, a novel cadherin expressed in a subset of neural tissues in the zebrafish embryo.
Developmental dynamics : an official publication of the American Association of Anatomists | 1996-06-01 | PMID 8725279
Franklin J I, Sargent T D
Two types of corticopulvinar terminations: round (type 2) and elongate (type 1).
The Journal of comparative neurology | 1996-04-22 | PMID 8725294
Rockland K S
Analysis of gene action in the meander tail mutant mouse: examination of cerebellar phenotype and mitotic activity of granule cell neuroblasts.
The Journal of comparative neurology | 1996-04-29 | PMID 8725309
Hamre K M, Goldowitz D