Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences.
American journal of medical genetics | 1996-10-16 | PMID 8911605
Mitchell J, Schinzel A, Langlois S and 9 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 779 of 10600
Unusual xanthomas in a young patient with heterozygous familial hypercholesterolemia and type III hyperlipoproteinemia.
American journal of medical genetics | 1996-10-16 | PMID 8911609
Feussner G, Dobmeyer J, Nissen H and 1 more
Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 Gene.
American journal of medical genetics | 1996-10-16 | PMID 8911610
Rossetti S, Bresin E, Restagno G and 5 more
Genes: PKD1
Proteolipid protein: is it more than just a structural component of myelin?
Developmental neuroscience | 1996-01-01 | PMID 8911768
Knapp P E
A population association study of four candidate genes (hexokinase II, glucagon-like peptide-1 receptor, fatty acid binding protein-2, and apolipoprotein C-II) with type 2 diabetes and impaired glucose tolerance in Japanese subjects.
Diabetic medicine : a journal of the British Diabetic Association | 1996-10-01 | PMID 8911786
Yagi T, Nishi S, Hinata S and 2 more
Effect of polymorphism in the insulin gene region on IDDM susceptibility and insulin secretion. The Childhood Diabetes in Finland (DiMe) Study Group.
European journal of clinical investigation | 1996-10-01 | PMID 8911856
Halminen M, Veijola R, Reijonen H and 3 more
Genes: INS
HIV-1 viraemia changes in patients with and without syncytium-inducing phenotype treated with nucleoside analogues: a case-control study.
European journal of clinical investigation | 1996-10-01 | PMID 8911867
Leal M, Torres Y, Medrano F J and 4 more
Phenotype and genotype analysis of debrisoquine hydroxylase (CYP2D6) in a black Zimbabwean population. Reduced enzyme activity and evaluation of metabolic correlation of CYP2D6 probe drugs.
European journal of clinical pharmacology | 1996-01-01 | PMID 8911874
Masimirembwa C, Hasler J, Bertilssons L and 3 more
Inherited defects of the protein C anticoagulant system in childhood thrombo-embolism.
European journal of pediatrics | 1996-11-01 | PMID 8911889
Nowak-Göttl U, Auberger K, Göbel U and 5 more
Congenital muscular dystrophy with laminin alpha 2 chain deficiency: identification of a new intermediate phenotype and correlation of clinical findings to muscle immunohistochemistry.
European journal of pediatrics | 1996-11-01 | PMID 8911899
Herrmann R, Straub V, Meyer K and 3 more
Immunosusceptibility genes in rheumatoid arthritis.
Human immunology | 1996-11-01 | PMID 8911995
Sherritt M A, Tait B, Varney M and 6 more
An association between type 1 diabetes and the interleukin-1 receptor type 1 gene. The DiMe Study Group. Childhood Diabetes in Finland.
Human immunology | 1996-11-01 | PMID 8911996
Metcalfe K A, Hitman G A, Pociot F and 6 more
Low molecular weight IgM in healthy adults: influence of HLA.
Human immunology | 1996-11-01 | PMID 8911998
Xu H, Roberts-Thomson P J
Sequence of a new HLA-DR4 allele with an unusual residue at position 88 that does not seem to affect T-cell allo recognition.
Human immunology | 1996-11-01 | PMID 8911999
Gebuhrer L, Adami N, Javaux F and 4 more
NK cell proliferation and inflammation.
Immunology and cell biology | 1996-10-01 | PMID 8912011
Warren H S
Sequence analysis and allelic designation of the two short tandem repeat loci D18S51 and D8S1179.
International journal of legal medicine | 1996-01-01 | PMID 8912049
Barber M D, Parkin B H
Genes: TCTA
Genotyping of the ABO blood group system: analysis of nucleotide position 802 by PCR-RFLP and the distribution of ABO genotypes in a German population.
International journal of legal medicine | 1996-01-01 | PMID 8912054
Nishimukai H, Fukumori Y, Okiura T and 5 more
Genes: ABO
Polymorphism analysis of the VNTR locus D17S5 in central Spain.
International journal of legal medicine | 1996-01-01 | PMID 8912056
Arroyo E, García-Sánchez F, Prieto L and 2 more
Hungarian population data on six STR loci--HUMVWFA31, HUMTH01, HUMCSF1PO, HUMFES/FPS, HUMTPOX, and HUMHPRTB--derived using multiplex PCR amplification and manual typing.
International journal of legal medicine | 1996-01-01 | PMID 8912057
Füredi S, Budowle B, Woller J and 1 more
Population data for the STR systems HumTH01, HumVWA and FES/FPS in a population sample from lower Franconia.
International journal of legal medicine | 1996-01-01 | PMID 8912058
Günther S, Patzelt D
Genes: FES
A null allele for the Afm175xg3 marker at locus D17S795 caused by a primer binding failure.
International journal of legal medicine | 1996-01-01 | PMID 8912059
Mochi M, Valentino M L, Montagna P
Hepatitis C virus genotypes and subtypes in patients with hepatitis C, with and without cryoglobulinemia.
Journal of hepatology | 1996-10-01 | PMID 8912140
Frangeul L, Musset L, Cresta P and 3 more
Low hepatitis C viremia levels in patients with anti-liver/kidney microsomal antibody type 1 positive chronic hepatitis.
Journal of hepatology | 1996-10-01 | PMID 8912141
Giostra F, Manzin A, Lenzi M and 7 more
Mutation rates in LTR of HTLV-1 in HAM/TSP patients and the carriers are similarly high to Tax/Rex-coding sequence.
Journal of neurovirology | 1996-10-01 | PMID 8912209
Saito M, Furukawa Y, Kubota R and 4 more
Transplanted sweat glands from mature and aged donors determine cholinergic phenotype and altered density of host sympathetic nerves.
Journal of the autonomic nervous system | 1996-09-12 | PMID 8912274
Cowen T, Thrasivoulou C, Shaw S A and 1 more
Genes: VIP
Familial presumed cerebral cavernous angiomas diagnosed by MRI: three generations.
Neuroradiology | 1996-10-01 | PMID 8912319
Mori T, Fujimoto M, Sakae K and 5 more
Implications of p53 protein expression in clear cell sarcoma of the kidney.
Pathology | 1996-08-01 | PMID 8912350
Cheah P L, Looi L M
Kinetic characterisation of alpha-1-antitrypsin F as an inhibitor of human neutrophil elastase.
Pathology | 1996-08-01 | PMID 8912354
Cook L, Burdon J G, Brenton S and 2 more
Rapid genotypic confirmation of methicillin resistance.
Pathology | 1996-08-01 | PMID 8912358
Inglis T J, Rahman W
Molecular determinants of sexual differentiation.
World journal of urology | 1996-01-01 | PMID 8912468
Wiener J S, Marcelli M, Lamb D J
Genes: SOX9, SRY
Androgen-receptor gene structure and function in prostate cancer.
World journal of urology | 1996-01-01 | PMID 8912473
Hakimi J M, Rondinelli R H, Schoenberg M P and 1 more
Review of allelic loss and gain in prostate cancer.
World journal of urology | 1996-01-01 | PMID 8912474
Bova G S, Isaacs W B
HLA-DRB1 genes and disease severity in rheumatoid arthritis. The MIRA Trial Group. Minocycline in Rheumatoid Arthritis.
Arthritis and rheumatism | 1996-11-01 | PMID 8912501
Reveille J D, Alarcón G S, Fowler S E and 13 more
Specificities of human TAP alleles for HLA-B27 binding peptides.
Arthritis and rheumatism | 1996-11-01 | PMID 8912512
Kuipers J G, Raybourne R B, Williams K M and 2 more
Defective expression of HLA class I and CD1a molecules in boy with Marfan-like phenotype and deep skin ulcers.
Journal of the American Academy of Dermatology | 1996-11-01 | PMID 8912593
Plebani A, Monafo V, Cattaneo R and 8 more
Identification of novel exon-deleted progesterone receptor variant mRNAs in human breast tissue.
Biochemical and biophysical research communications | 1996-11-01 | PMID 8912636
Leygue E, Dotzlaw H, Watson P H and 1 more
Genomic organization and DNA sequences of two human phenol sulfotransferase genes (STP1 and STP2) on the short arm of chromosome 16.
Biochemical and biophysical research communications | 1996-11-01 | PMID 8912648
Dooley T P, Huang Z
Improved thermostability of the North American firefly luciferase: saturation mutagenesis at position 354.
The Biochemical journal | 1996-10-15 | PMID 8912666
White P J, Squirrell D J, Arnaud P and 2 more
Identification of an E689K substitution as the molecular basis of the human acid alpha-glucosidase type 4 allozyme (GAA*4).
Annals of human genetics | 1996-09-01 | PMID 8912788
Huie M L, Menaker M, McAlpine P J and 1 more
Genes: GAA
Variants at the secretory phospholipase A2 (PLA2G2A) locus: analysis of associations with familial adenomatous polyposis and sporadic colorectal tumours.
Annals of human genetics | 1996-09-01 | PMID 8912789
Tomlinson I P, Beck N E, Neale K and 1 more
Genes: FAP
Testing candidate loci on chromosomes 1 and 6 for genetic linkage to Peutz-Jeghers' disease.
Annals of human genetics | 1996-09-01 | PMID 8912790
Tomlinson I P, Olschwang S, Abelovitch D and 4 more
Dynamic mutation loci: allele distributions in different populations.
Annals of human genetics | 1996-09-01 | PMID 8912792
Richards R I, Crawford J, Narahara K and 12 more
Geographic clustering of human Y-chromosome haplotypes.
Annals of human genetics | 1996-09-01 | PMID 8912793
Ruiz Linares A, Nayar K, Goldstein D B and 6 more
Mutations in the p53 gene in pulmonary blastomas: immunohistochemical and molecular studies.
Human pathology | 1996-11-01 | PMID 8912818
Bodner S M, Koss M N
Loss of heterozygosity and microsatellite alterations in p53 and RB genes in adenoid cystic carcinoma of the salivary glands.
Human pathology | 1996-11-01 | PMID 8912832
Yamamoto Y, Virmani A K, Wistuba I I and 4 more
T-cell-directed TAL-1 expression induces T-cell malignancies in transgenic mice.
Cancer research | 1996-11-15 | PMID 8912842
Condorelli G L, Facchiano F, Valtieri M and 6 more
Genes: LCK
Expression of an ornithine decarboxylase dominant-negative mutant reverses eukaryotic initiation factor 4E-induced cell transformation.
Cancer research | 1996-11-15 | PMID 8912847
Shantz L M, Coleman C S, Pegg A E
Genetic progression, histological grade, and allelic loss in ductal carcinoma in situ of the breast.
Cancer research | 1996-11-15 | PMID 8912866
Fujii H, Szumel R, Marsh C and 2 more
Allelic deletions on chromosome 11q13 in multiple tumors from individual MEN1 patients.
Cancer research | 1996-11-15 | PMID 8912868
Lubensky I A, Debelenko L V, Zhuang Z and 10 more
Genes: MEN1, PYGM
E-cadherin transfection down-regulates the epidermal growth factor receptor and reverses the invasive phenotype of human papilloma virus-transfected keratinocytes.
Cancer research | 1996-11-15 | PMID 8912870
Wilding J, Vousden K H, Soutter W P and 3 more
A new variant of B1 elements, vB1, identified upstream of a retroviral integration site.
DNA sequence : the journal of DNA sequencing and mapping | 1996-01-01 | PMID 8912925
Gimbel W, Schmidt J, Erfle V and 1 more
Lithium-responsive affective disorders: no association with the tyrosine hydroxylase gene.
Psychiatry research | 1996-09-27 | PMID 8912950
Cavazzoni P, Alda M, Turecki G and 5 more
Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene.
Retina (Philadelphia, Pa.) | 1996-01-01 | PMID 8912967
Nakazawa M, Naoi N, Wada Y and 4 more
Molecular genetics of central retinal dystrophies.
Australian and New Zealand journal of ophthalmology | 1996-08-01 | PMID 8913120
Moore A T, Evans K
Genes: TIMP3
Phenotypic and genotypic analysis of rat liver epithelial cells infected with retroviral shuttle vectors.
Cancer letters | 1996-10-01 | PMID 8913262
Dees C, Travis C
Genes: EGF
Relaxation of imprinting of the insulin-like growth factor II gene in colorectal cancer.
Cancer letters | 1996-10-01 | PMID 8913273
Kinouchi Y, Hiwatashi N, Higashioka S and 3 more
Genes: IGF2
Systematic mutational analysis revealing the functional domain organization of Escherichia coli nucleoid protein H-NS.
Journal of molecular biology | 1996-10-25 | PMID 8913298
Ueguchi C, Suzuki T, Yoshida T and 2 more
Substrate recognition and induced DNA distortion by the PI-SceI endonuclease, an enzyme generated by protein splicing.
Journal of molecular biology | 1996-10-25 | PMID 8913299
Gimble F S, Wang J
Mutations within a conserved region of vaccinia topoisomerase affect the DNA cleavage-religation equilibrium.
Journal of molecular biology | 1996-10-25 | PMID 8913300
Petersen B O, Wittschieben J, Shuman S
Ligand-induced conformational change within the CD2 ectodomain accompanies receptor clustering: implication for molecular lattice formation.
Journal of molecular biology | 1996-10-25 | PMID 8913302
Li J, Smolyar A, Sunder-Plassmann R and 1 more
Microsecond protein folding through a compact transition state.
Journal of molecular biology | 1996-10-25 | PMID 8913309
Burton R E, Huang G S, Daugherty M A and 2 more
Isolation and characterization of a cisplatin-resistant strain of Schizosaccharomyces pombe.
Molecular pharmacology | 1996-11-01 | PMID 8913338
Perego P, Jimenez G, Howell S B
Identification of critical extracellular loop residues involved in alpha 1-adrenergic receptor subtype-selective antagonist binding.
Molecular pharmacology | 1996-11-01 | PMID 8913343
Zhao M M, Hwa J, Perez D M
Evidence for distinction of the differentiation-inducing activities and cytostatic properties of 9-(2-phosphonylmethoxyethyl)adenine and a variety of differentiation-inducing agents in human erythroleukemia K562 cells.
Molecular pharmacology | 1996-11-01 | PMID 8913355
Hatse S, De Clercq E, Balzarini J
Distinct effects of mutations in transmembrane segment IVS6 on block of L-type calcium channels by structurally similar phenylalkylamines.
Molecular pharmacology | 1996-11-01 | PMID 8913371
Johnson B D, Hockerman G H, Scheuer T and 1 more
Correlation of molecular resistance mechanisms and phenotypic resistance levels in streptomycin-resistant Mycobacterium tuberculosis.
Antimicrobial agents and chemotherapy | 1996-11-01 | PMID 8913445
Meier A, Sander P, Schaper K J and 2 more
A TEM-derived extended-spectrum beta-lactamase in Pseudomonas aeruginosa.
Antimicrobial agents and chemotherapy | 1996-11-01 | PMID 8913451
Mugnier P, Dubrous P, Casin I and 2 more
In vitro interaction between amphotericin B and azoles in Candida albicans.
Antimicrobial agents and chemotherapy | 1996-11-01 | PMID 8913455
Vazquez J A, Arganoza M T, Vaishampayan J K and 1 more
Emergence of protease inhibitor resistance mutations in human immunodeficiency virus type 1 isolates from patients and rapid screening procedure for their detection.
Antimicrobial agents and chemotherapy | 1996-11-01 | PMID 8913459
Vasudevachari M B, Zhang Y M, Imamichi H and 3 more
9-[2-(Phosphonomethoxy)propyl]adenine therapy of established simian immunodeficiency virus infection in infant rhesus macaques.
Antimicrobial agents and chemotherapy | 1996-11-01 | PMID 8913470
Van Rompay K K, Cherrington J M, Marthas M L and 8 more
Species selectivity of new siderophore-drug conjugates that use specific iron uptake for entry into bacteria.
Antimicrobial agents and chemotherapy | 1996-11-01 | PMID 8913474
Diarra M S, Lavoie M C, Jacques M and 7 more
Comparative antimycobacterial activities of rifampin, rifapentine, and KRM-1648 against a collection of rifampin-resistant Mycobacterium tuberculosis isolates with known rpoB mutations.
Antimicrobial agents and chemotherapy | 1996-11-01 | PMID 8913484
Moghazeh S L, Pan X, Arain T and 3 more
Growth phenotypes of Escherichia coli carrying a mutation of acidic phospholipid synthesis.
Biological & pharmaceutical bulletin | 1996-10-01 | PMID 8913496
Akimitsu N, Mizushima T, Suzuki E and 2 more
Association of TAP1 and TAP2 with systemic sclerosis in Japanese.
Clinical and experimental rheumatology | 2000-01-01 | PMID 8913653
Takeuchi F, Kuwata S, Nakano K and 5 more
Genes: TAP1, TAP2
Origin and migration of an Afrikaner founder mutation FHAfrikaner-2 (V408M) causing familial hypercholesterolemia.
Gene geography : a computerized bulletin on human gene frequencies | 1996-04-01 | PMID 8913716
Defesche J C, Van Diermen D E, Hayden M R and 1 more
Polymorphisms and phyletic relationships of the Paisa community from Antioquia (Colombia).
Gene geography : a computerized bulletin on human gene frequencies | 1996-04-01 | PMID 8913717
Bravo M L, Valenzuela C Y, Arcos-Burgos O M
A report on an extremely rare superoxide dismutase phenotype from India.
Gene geography : a computerized bulletin on human gene frequencies | 1996-04-01 | PMID 8913719
Khaja M N, Veerraju P, Ramesh M
Gene differentiation at the AB0, MN and Rhesus loci among Albanians and their relation with other Balkanic populations.
Gene geography : a computerized bulletin on human gene frequencies | 1996-04-01 | PMID 8913720
Susanne C, Bajrami Z, Kume K and 1 more
Variability of the CD4 and F13A1 short tandem repeats in Corsicans, Sardinians and Piaroa Indians.
Gene geography : a computerized bulletin on human gene frequencies | 1996-04-01 | PMID 8913722
Vona G, Calò C M, Mameli G E and 5 more
Constitutional trisomy 8 as first mutation in multistep carcinogenesis: clinical, cytogenetic, and molecular data on three cases.
Genes, chromosomes & cancer | 1996-10-01 | PMID 8913726
Seghezzi L, Maserati E, Minelli A and 9 more
Two classes of Tn10 transposase mutants that suppress mutations in the Tn10 terminal inverted repeat.
Genetics | 1996-11-01 | PMID 8913733
Sakai J, Kleckner N
A novel involvement of the PurG and PurI proteins in thiamine synthesis via the alternative pyrimidine biosynthetic (APB) pathway in Salmonella typhimurium.
Genetics | 1996-11-01 | PMID 8913735
Zilles J L, Downs D M
The Saccharomyces cerevisiae RTG2 gene is a regulator of aconitase expression under catabolite repression conditions.
Genetics | 1996-11-01 | PMID 8913736
Vélot C, Haviernik P, Lauquin G J
Genes: ACO1
Identification and characterization of FAR3, a gene required for pheromone-mediated G1 arrest in Saccharomyces cerevisiae.
Genetics | 1996-11-01 | PMID 8913737
Horecka J, Sprague G F
Genes: CLN3, FAR1
SGS1, a homologue of the Bloom's and Werner's syndrome genes, is required for maintenance of genome stability in Saccharomyces cerevisiae.
Genetics | 1996-11-01 | PMID 8913739
Watt P M, Hickson I D, Borts R H and 1 more
Genes: BLM, RAD1, RAD52, WRN
Saccharomyces cerevisiae S288C has a mutation in FLO8, a gene required for filamentous growth.
Genetics | 1996-11-01 | PMID 8913742
Liu H, Styles C A, Fink G R
Yeast mutants that produce a novel type of ascus containing asci instead of spores.
Genetics | 1996-11-01 | PMID 8913743
Xue Z, Shan X, Sinelnikov A and 1 more
Genetic and physical variability at the mating type locus of the oomycete, Phytophthora infestans.
Genetics | 1996-11-01 | PMID 8913745
Judelson H S
DNA sequence variation at the period locus reveals the history of species and speciation events in the Drosophila virilis group.
Genetics | 1996-11-01 | PMID 8913746
Hilton H, Hey J
Kinesin mutations cause motor neuron disease phenotypes by disrupting fast axonal transport in Drosophila.
Genetics | 1996-11-01 | PMID 8913751
Hurd D D, Saxton W M
Subunit interactions in the mariner transposase.
Genetics | 1996-11-01 | PMID 8913752
Lohe A R, Sullivan D T, Hartl D L
Mutations in new cell cycle genes that fail to complement a multiply mutant third chromosome of Drosophila.
Genetics | 1996-11-01 | PMID 8913753
White-Cooper H, Carmena M, Gonzalez C and 1 more
The speciation history of Drosophila pseudoobscura and close relatives: inferences from DNA sequence variation at the period locus.
Genetics | 1996-11-01 | PMID 8913754
Wang R L, Hey J
Genes regulating the remote wing margin enhancer in the Drosophila cut locus.
Genetics | 1996-11-01 | PMID 8913756
Morcillo P, Rosen C, Dorsett D
An evaluation of evolutionary constraints on microsatellite loci using null alleles.
Genetics | 1996-11-01 | PMID 8913757
Lehmann T, Hawley W A, Collins F H
Compensatory aspects of allele diversity at immunoglobulin loci: gene correlations in rabbit populations devoid of light chain diversity (Oryctolagus cuniculus L.; Kerguelen Islands).
Genetics | 1996-11-01 | PMID 8913759
Van der Loo W, Boussès P, Arthur C P and 1 more
Measuring and testing genetic differentiation with ordered versus unordered alleles.
Genetics | 1996-11-01 | PMID 8913764
Pons O, Petit R J
Optimal sequencing strategies for surveying molecular genetic diversity.
Genetics | 1996-11-01 | PMID 8913765
Pluzhnikov A, Donnelly P
The effects of variable mutation rates across sites on the phylogenetic estimation of effective population size or mutation rate of DNA sequences.
Genetics | 1996-11-01 | PMID 8913767
Deng H W, Fu Y X
The evolution of genomic imprinting.
Genetics | 1996-11-01 | PMID 8913768
Mochizuki A, Takeda Y, Iwasa Y