On the many faces of Leber hereditary optic neuropathy.
Clinical genetics | 1997-06-01 | PMID 9237501
Oostra R J, Tijmes N T, Cobben J M and 5 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 875 of 10600
CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolaemia among South African Indians.
Clinical genetics | 1997-06-01 | PMID 9237502
Kotze M J, Loubser O, Thiart R and 6 more
Genes: LDLR
Codon 89 polymorphism of the human 5alpha-steroid reductase type 2 gene.
Clinical genetics | 1997-06-01 | PMID 9237503
Vilchis F, Hernández D, Canto P and 2 more
The electrical activity is impaired in the red nucleus of dt(sz) mutant hamsters with paroxysmal dystonia: an EEG power spectrum analysis of depth electrode recordings.
Brain research | 1997-06-20 | PMID 9237524
Gernert M, Richter A, Löscher W
A set of electrophoretic molecular markers for strain typing and population genetic studies of Histoplasma capsulatum.
Electrophoresis | 1997-06-01 | PMID 9237553
Carter D A, Burt A, Taylor J W and 3 more
Polymorphism of 5' of the catalase gene in Hungarian acatalasemia and hypocatalasemia.
Electrophoresis | 1997-06-01 | PMID 9237564
Góth L, Vitai M
Sequence and characterization of two Arabidopsis thaliana cDNAs isolated by functional complementation of a yeast gln3 gdh1 mutant.
FEBS letters | 1997-06-30 | PMID 9237632
Truong H N, Caboche M, Daniel-Vedele F
Genetic and immunologic characterization of viruses infecting MN-rgp120-vaccinated volunteers.
The Journal of infectious diseases | 1997-08-01 | PMID 9237703
Berman P W, Gray A M, Wrin T and 6 more
Lamivudine-resistant human immunodeficiency virus type 1 variants (184V) require multiple amino acid changes to become co-resistant to zidovudine in vivo.
The Journal of infectious diseases | 1997-08-01 | PMID 9237704
Nijhuis M, Schuurman R, de Jong D and 6 more
On/off blinking and switching behaviour of single molecules of green fluorescent protein.
Nature | 1997-07-24 | PMID 9237752
Dickson R M, Cubitt A B, Tsien R Y and 1 more
A human homologue of the Drosophila Toll protein signals activation of adaptive immunity.
Nature | 1997-07-24 | PMID 9237759
Medzhitov R, Preston-Hurlburt P, Janeway C A
Survival, mutagenesis, and host cell reactivation in a Chinese hamster ovary cell ERCC1 knock-out mutant.
Mutagenesis | 1997-07-01 | PMID 9237774
Rolig R L, Layher S K, Santi B and 4 more
Genes: ERCC1
Gestational diabetes mellitus and gene mutations which affect insulin secretion.
Diabetes research and clinical practice | 1997-06-01 | PMID 9237779
Allan C J, Argyropoulos G, Bowker M and 5 more
Effects of the murine genotype on T cell activation and cytokine production in murine mercury-induced autoimmunity.
Journal of autoimmunity | 1997-08-01 | PMID 9237798
Johansson U, Sander B, Hultman P
Genes: TNF
Lack of association of DMB polymorphism with insulin-dependent diabetes.
Journal of autoimmunity | 1997-08-01 | PMID 9237803
Esposito L, Lampasona V, Bonifacio E and 2 more
Genes: TAP2
Evolutionarily stable strategy distributions for the Repeated Prisoner's Dilemma.
Journal of theoretical biology | 1997-07-21 | PMID 9237893
Mowbray M
Base-pairings within the RNA pseudoknot associated with the simian retrovirus-1 gag-pro frameshift site.
Journal of molecular biology | 1997-07-18 | PMID 9237911
Du Z, Holland J A, Hansen M R and 2 more
The high spontaneous mutation rate: is it a health risk?
Proceedings of the National Academy of Sciences of the United States of America | 1997-08-05 | PMID 9237985
Crow J F
The Bacillus subtilis crh gene encodes a HPr-like protein involved in carbon catabolite repression.
Proceedings of the National Academy of Sciences of the United States of America | 1997-08-05 | PMID 9237995
Galinier A, Haiech J, Kilhoffer M C and 4 more
Phenotypic conversion of drug-resistant bacteria to drug sensitivity.
Proceedings of the National Academy of Sciences of the United States of America | 1997-08-05 | PMID 9238000
Guerrier-Takada C, Salavati R, Altman S
ECA1 complements yeast mutants defective in Ca2+ pumps and encodes an endoplasmic reticulum-type Ca2+-ATPase in Arabidopsis thaliana.
Proceedings of the National Academy of Sciences of the United States of America | 1997-08-05 | PMID 9238019
Liang F, Cunningham K W, Harper J F and 1 more
Importin/karyopherin protein family members required for mRNA export from the nucleus.
Proceedings of the National Academy of Sciences of the United States of America | 1997-08-05 | PMID 9238021
Seedorf M, Silver P A
Mutagenicity in Escherichia coli of the major DNA adduct derived from the endogenous mutagen malondialdehyde.
Proceedings of the National Academy of Sciences of the United States of America | 1997-08-05 | PMID 9238032
Fink S P, Reddy G R, Marnett L J
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.
Proceedings of the National Academy of Sciences of the United States of America | 1997-08-05 | PMID 9238033
Taylor E M, Broughton B C, Botta E and 7 more
Genes: ERCC2
Mouse mammary tumor virus/v-Ha-ras transgene-induced mammary tumors exhibit strain-specific allelic loss on mouse chromosome 4.
Proceedings of the National Academy of Sciences of the United States of America | 1997-08-05 | PMID 9238034
Radany E H, Hong K, Kesharvarzi S and 2 more
Apoptosis resistance of nonobese diabetic peripheral lymphocytes linked to the Idd5 diabetes susceptibility region.
Proceedings of the National Academy of Sciences of the United States of America | 1997-08-05 | PMID 9238035
Colucci F, Bergman M L, Penha-Gonçalves C and 2 more
Resistance to apoptosis caused by PIG-A gene mutations in paroxysmal nocturnal hemoglobinuria.
Proceedings of the National Academy of Sciences of the United States of America | 1997-08-05 | PMID 9238050
Brodsky R A, Vala M S, Barber J P and 2 more
Genes: GPI
A natural polymorphism in beta-lactamase is a global suppressor.
Proceedings of the National Academy of Sciences of the United States of America | 1997-08-05 | PMID 9238058
Huang W, Palzkill T
Mendel's dwarfing gene: cDNAs from the Le alleles and function of the expressed proteins.
Proceedings of the National Academy of Sciences of the United States of America | 1997-08-05 | PMID 9238076
Martin D N, Proebsting W M, Hedden P
Non P-glycoprotein novel proteins involved in human cancer multidrug resistance.
Bulletin du cancer | 1997-04-01 | PMID 9238162
Baggetto L G
[Multigenic thrombophilia: genetic anomaly of factor II and mutation of factor V Leiden. Study in a French family].
Presse medicale (Paris, France : 1983) | 1997-06-14 | PMID 9238178
Conard J, Mabileau-Brouzes C, Horellou M H and 2 more
Luteinizing hormone resistance syndromes.
Annals of the New York Academy of Sciences | 1997-06-17 | PMID 9238276
Tsigos C, Latronico C, Chrousos G P
Karyotype-phenotype correlation in females with X chromosome abnormalities.
Annals of the New York Academy of Sciences | 1997-06-17 | PMID 9238290
Kosmaidou-Aravidou Z
Genetic screening for RET mutations in families with multiple endocrine neoplasia 2 syndromes.
Annals of the New York Academy of Sciences | 1997-06-17 | PMID 9238292
Alevizaki M, Sarika H, Koutras D A and 1 more
Genes: RET
Hair keratinization in health and disease.
Dermatologic clinics | 1996-10-01 | PMID 9238322
Jones L N, Steinert P M
Familial and genetic influences on heart rate variability.
Journal of electrocardiology | 1996-01-01 | PMID 9238392
Voss A, Busjahn A, Wessel N and 4 more
[Genetic hemochromatosis].
Annales de biologie clinique | 2000-01-01 | PMID 9238420
Jouanolle A M, David V, Le Gall J Y
[Hereditary cardiac arrhythmia].
Archives des maladies du coeur et des vaisseaux | 1997-04-01 | PMID 9238458
Le Marec H, Schott J J
Genetic variation at structural loci in the Glossina morsitans species group.
Biochemical genetics | 1997-02-01 | PMID 9238514
Krafsur E S, Griffiths N
Genetic diversity and divergence in Chinese yak (Bos grunniens) populations inferred from blood protein electrophoresis.
Biochemical genetics | 1997-02-01 | PMID 9238515
Tu Z C, Zhang Y P, Qiu H
Genes: ALB
Biochemistry of esterases associated with organophosphate resistance in Lucilia cuprina with comparisons to putative orthologues in other Diptera.
Biochemical genetics | 1997-02-01 | PMID 9238516
Campbell P M, Trott J F, Claudianos C and 3 more
Genetic variants affecting phenoloxidase activity in Drosophila melanogaster.
Biochemical genetics | 1997-02-01 | PMID 9238517
Asada N
Activity and carboxylation specificity factor of mutant ribulose 1,5-bisphosphate carboxylase/oxygenase from Anacystis nidulans.
Biochemistry and molecular biology international | 1997-06-01 | PMID 9238528
Romanova A K, Zhen-Qi-Cheng Z, McFadden B A
Role of H-ras gene in chronic liver damage in mice. By using transgenic mice carrying a human C-H-ras proto-oncogene without mutations.
Biochemistry and molecular biology international | 1997-06-01 | PMID 9238536
Tsunematsu S, Saito H, Sato R and 2 more
Management of rhesus isoimmunization by preimplantation genetic diagnosis.
Molecular human reproduction | 1996-01-01 | PMID 9238659
Avner R, Reubinoff B E, Simon A and 4 more
Nuclear structural conditions and PCR amplification in human preimplantation diagnosis.
Molecular human reproduction | 1996-01-01 | PMID 9238660
Cui K H, Matthews C D
Vaginal agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome) associated with the N314D mutation of galactose-1-phosphate uridyl transferase (GALT).
Molecular human reproduction | 1996-03-01 | PMID 9238673
Cramer D W, Goldstein D P, Fraer C and 1 more
Genes: GALT
Endometriosis associated with the N314D mutation of galactose-1-phosphate uridyl transferase (GALT).
Molecular human reproduction | 1996-03-01 | PMID 9238674
Cramer D W, Hornstein M D, Ng W G and 1 more
Genes: GALT
Identification of the five most common cystic fibrosis mutations in single cells using a rapid and specific differential amplification system.
Molecular human reproduction | 1996-03-01 | PMID 9238680
Scobie G, Woodroffe B, Fishel S and 1 more
Genes: CFTR
Increasing the denaturation temperature during the first cycles of amplification reduces allele dropout from single cells for preimplantation genetic diagnosis.
Molecular human reproduction | 1996-03-01 | PMID 9238682
Ray P F, Handyside A H
Genes: ADO, PGD
Molecular analysis of porphobilinogen (PBG) deaminase gene mutations in acute intermittent porphyria: first study in patients of Slavic origin.
Scandinavian journal of clinical and laboratory investigation | 1997-05-01 | PMID 9238757
Rosipal R, Puy H, Lamoril J and 3 more
Genes: AIP
Life threatening pulmonary embolus in a factor V Leiden carrier on oral contraceptives: a case report.
Connecticut medicine | 1997-06-01 | PMID 9238827
Saif M W, Volpe B T, Dailey M and 1 more
Mineralocorticoid receptors, salt, and hypertension.
Recent progress in hormone research | 1997-01-01 | PMID 9238855
Funder J W, Krozowski Z, Myles K and 3 more
Mutations contributing to human blood pressure variation.
Recent progress in hormone research | 1997-01-01 | PMID 9238856
Karet F E, Lifton R P
Human histocompatibility leukocyte antigen-binding supermotifs predict broadly cross-reactive cytotoxic T lymphocyte responses in patients with acute hepatitis.
The Journal of clinical investigation | 1997-08-01 | PMID 9239396
Bertoni R, Sidney J, Fowler P and 3 more
E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype.
The Journal of clinical investigation | 1997-08-01 | PMID 9239422
Chuang J L, Cox R P, Chuang D T
Is cellulose acetate electrophoresis a suitable technique for detection of Hb Bart's at birth?
Human heredity | 2000-01-01 | PMID 9239503
Desai S, Colah R, Gupte S and 1 more
Ethnic differences in interferon-alpha allele frequencies.
Human heredity | 2000-01-01 | PMID 9239504
Golovleva I, Saha N, Beckman L
Allele frequencies for 20 microsatellites in a worldwide population survey.
Human heredity | 2000-01-01 | PMID 9239505
Pérez-Lezaun A, Calafell F, Mateu E and 3 more
Linkage analyses in type I diabetes mellitus using CASPAR, a software and statistical program for conditional analysis of polygenic diseases.
Human heredity | 2000-01-01 | PMID 9239508
Buhler J, Owerbach D, Schäffer A A and 2 more
Linkage analysis under locus heterogeneity: behaviour of the A-test in complex analyses.
Human heredity | 2000-01-01 | PMID 9239509
Janssen B, Halley D, Sandkuijl L
Mitochondrial DNA mutations and pathogenesis.
Journal of bioenergetics and biomembranes | 1997-04-01 | PMID 9239539
Schon E A, Bonilla E, DiMauro S
Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve?
Journal of bioenergetics and biomembranes | 1997-04-01 | PMID 9239541
Howell N
Effect of skin movement on the analysis of skeletal knee joint motion during running.
Journal of biomechanics | 1997-07-01 | PMID 9239553
Reinschmidt C, van den Bogert A J, Nigg B M and 2 more
Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens.
Molecular human reproduction | 1996-09-01 | PMID 9239681
De Braekeleer M, Férec C
Genes: CFTR
Hyaluronan, CD44 and its variant exons in human trophoblast invasion and placental angiogenesis.
Molecular human reproduction | 1996-09-01 | PMID 9239683
Goshen R, Ariel I, Shuster S and 5 more
Preimplantation genetic testing for Marfan syndrome.
Molecular human reproduction | 1996-09-01 | PMID 9239687
Harton G L, Tsipouras P, Sisson M E and 7 more
Polymerase chain reaction screening for Y chromosome microdeletions: a first step towards the diagnosis of genetically-determined spermatogenic failure in men.
Molecular human reproduction | 1996-10-01 | PMID 9239696
Qureshi S J, Ross A R, Ma K and 4 more
Genes: STS
Absence of DAZ gene mutations in cases of non-obstructed azoospermia.
Molecular human reproduction | 1997-01-01 | PMID 9239708
Vereb M, Agulnik A I, Houston J T and 3 more
Genes: STS
Mitochondrial disorders.
Molecular human reproduction | 1997-02-01 | PMID 9239718
Zeviani M, Antozzi C
Beck-Wiedemann syndrome and Wilms' tumour.
Molecular human reproduction | 1997-02-01 | PMID 9239720
Ward A
The molecular genetics of male infertility.
Molecular human reproduction | 1997-05-01 | PMID 9239727
Meschede D, Horst J
Fluorescent in-situ hybridization and sequence-tagged sites for delineation of an X:Y translocation in a patient with secondary amenorrhoea.
Molecular human reproduction | 1997-05-01 | PMID 9239729
Delon B, Lallaoui H, Abel-Lablanche C and 3 more
Genes: STS
Prenatal diagnosis of the thalassaemia syndromes by rapid DNA analytical methods.
Molecular human reproduction | 1997-06-01 | PMID 9239742
Kanavakis E, Traeger-Synodinos J, Vrettou C and 3 more
Transgenic analysis of prion diseases.
Molecular human reproduction | 1997-06-01 | PMID 9239743
Moore R C, Melton D W
[Molecular genetics of hemophilia A].
Medicina | 1996-01-01 | PMID 9239887
De Brasi C D, Slavutsky I R, Larripa I B
[Insulin-dependent diabetes mellitus in Santiago, Chile: the role of immunogenetic and environmental factors].
Revista medica de Chile | 1996-10-01 | PMID 9239904
Pérez F, Calvillán M, Santos J L and 1 more
Dental occlusion and arch size and shape in karyotype 46,XY females.
European journal of orthodontics | 1997-06-01 | PMID 9239961
Grön M, Alvesalo L
Genetic linkage of mild malaria to the major histocompatibility complex in Gambian children: study of affected sibling pairs.
BMJ (Clinical research ed.) | 1997-07-12 | PMID 9240049
Jepson A, Sisay-Joof F, Banya W and 5 more
Genetic instability in patients with metachronous colorectal cancers.
The British journal of surgery | 1997-07-01 | PMID 9240146
Sengupta S B, Yiu C Y, Boulos P B and 3 more
Mutation of the central nervous system neuroblast proliferation repressor ana leads to defects in larval olfactory behavior.
Journal of neurobiology | 1997-08-01 | PMID 9240375
Park Y, Caldwell M C, Datta S
The copper chelator d-penicillamine delays onset of disease and extends survival in a transgenic mouse model of familial amyotrophic lateral sclerosis.
The European journal of neuroscience | 1997-07-01 | PMID 9240414
Hottinger A F, Fine E G, Gurney M E and 2 more
Genes: SOD1
N-cadherin protein distribution in normal embryos and in embryos carrying mutations in the homeobox gene Hoxa-4.
The International journal of developmental biology | 1997-06-01 | PMID 9240562
Packer A I, Elwell V A, Parnass J D and 2 more
Changes in activated protein C resistance during normal pregnancy.
American journal of obstetrics and gynecology | 1997-07-01 | PMID 9240601
Walker M C, Garner P R, Keely E J and 2 more
Activated protein C resistance and adverse pregnancy outcome.
American journal of obstetrics and gynecology | 1997-07-01 | PMID 9240602
Rotmensch S, Liberati M, Mittlemann M and 1 more
Oestrogen receptor variants and mutations in human breast cancer.
Annals of medicine | 1997-06-01 | PMID 9240628
Murphy L C, Leygue E, Dotzlaw H and 3 more
Mitochondrial DNA and disease.
Annals of medicine | 1997-06-01 | PMID 9240629
Suomalainen A
Selection of influenza A and B viruses for resistance to 4-guanidino-Neu5Ac2en in cell culture.
The Journal of infectious diseases | 1997-08-01 | PMID 9240698
Colacino J M, Laver W G, Air G M
Gaucher disease: functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in Baculovirus-transfected Spodoptera frugiperda cells.
American journal of medical genetics | 1996-10-28 | PMID 9240741
Choy F Y, Wei C, Levin D
Segregation analysis of microcephaly.
American journal of medical genetics | 1996-10-28 | PMID 9240749
Cohen T, Zeitune M, McGillivray B C and 4 more
Viral phenotype in mother-to-child HIV-1 transmission and disease progression of vertically acquired HIV-1 infection.
Acta paediatrica (Oslo, Norway : 1992). Supplement | 1997-06-01 | PMID 9240853
De Rossi A, Ometto L, Masiero S and 2 more
Role of immunity in maternal-infant HIV-1 transmission.
Acta paediatrica (Oslo, Norway : 1992). Supplement | 1997-06-01 | PMID 9240856
Jansson M, Orlandi P, Scarlatti G and 8 more
Immunological and virological markers of disease progression in HIV-infected children.
Acta paediatrica (Oslo, Norway : 1992). Supplement | 1997-06-01 | PMID 9240857
Muñoz-Fernández M A, Navarro J, Obregón E and 4 more
Rhesus monkeys produced by nuclear transfer.
Biology of reproduction | 1997-08-01 | PMID 9241063
Meng L, Ely J J, Stouffer R L and 1 more
Influence of BRCA1 mutations on nuclear grade and estrogen receptor status of breast carcinoma in Ashkenazi Jewish women.
Cancer | 1997-08-01 | PMID 9241077
Karp S E, Tonin P N, Bégin L R and 4 more
Genes: BRCA1, BRCA2
Comparative rates of disease progression among persons infected with the same or different HIV-1 strains. The Transfusion Safety Study Group.
Journal of acquired immune deficiency syndromes and human retrovirology : official publication of the International Retrovirology Association | 1997-06-01 | PMID 9241114
Operskalski E A, Busch M P, Mosley J W and 1 more
Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin.
Nature genetics | 1997-08-01 | PMID 9241270
Koutnikova H, Campuzano V, Foury F and 3 more
Bcl-2 and Bax function independently to regulate cell death.
Nature genetics | 1997-08-01 | PMID 9241272
Knudson C M, Korsmeyer S J
Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix.
Nature genetics | 1997-08-01 | PMID 9241275
Winter H, Rogers M A, Langbein L and 7 more
Somatic mutation of the MEN1 gene in parathyroid tumours.
Nature genetics | 1997-08-01 | PMID 9241276
Heppner C, Kester M B, Agarwal S K and 18 more
Genes: MEN1