Biomedical publications with connected research

Renal proximal tubular epithelium from patients with nephropathic cystinosis: Immortalized cell lines as in vitro model systems

1995-08-01 | PMID 7564123

Long-term follow-up of 77 patients with isolated methylmalonic acidaemia.

Journal of inherited metabolic disease | 1995-01-01 | PMID 7564229

Baumgarter E R, Viardot C

Galactosaemia: relationship of IQ to biochemical control and genotype.

Journal of inherited metabolic disease | 1995-01-01 | PMID 7564232

Cleary M A, Heptinstall L E, Wraith J E and 1 more

Segregation of the N301T mutation in the family of the index patient with mevalonate kinase deficiency.

Journal of inherited metabolic disease | 1995-01-01 | PMID 7564245

Goebel-Schreiner B, Schreiner R, Hoffmann G F and 1 more

RFLPs for linkage analysis in families with glycogen storage disease type III.

Journal of inherited metabolic disease | 1995-01-01 | PMID 7564248

Mishori-Dery A, Bashan N, Moses S and 4 more

Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11.

Journal of inherited metabolic disease | 1995-01-01 | PMID 7564249

Sperandeo M P, Panico M, Pepe A and 5 more

Prenatal diagnosis for Canavan disease: the use of DNA markers.

Journal of inherited metabolic disease | 1995-01-01 | PMID 7564250

Matalon R, Kaul R, Gao G P and 6 more

Riboflavin-responsive epilepsy in a patient with SER209 variant form of short-chain acyl-CoA dehydrogenase.

Journal of inherited metabolic disease | 1995-01-01 | PMID 7564254

Kmoch S, Zeman J, Hrebícek M and 3 more

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype.

Journal of inherited metabolic disease | 1995-01-01 | PMID 7564258

Ijlst L, Uskikubo S, Kamijo T and 4 more

Is genotyping useful for the screening of medium-chain acyl-CoA dehydrogenase deficiency in France?

Journal of inherited metabolic disease | 1995-01-01 | PMID 7564261

Ged C, el Sebai H, de Verneuil H and 1 more

Clinical spectrum of CADASIL: a study of 7 families

1995-10-01 | PMID 7564728

Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida

1995-10-01 | PMID 7564788

Genetic variation of 5-HT2A receptor and response to clozapine.

Lancet (London, England) | 1995-10-21 | PMID 7564821

Masellis M, Paterson A D, Badri F and 4 more

Genetic susceptibility in the occupational setting: introduction to the workshop.

La Medicina del lavoro | 2000-01-01 | PMID 7565278

Caporaso N

Markers of susceptibility and environmental cancer risk: experiences in Italy.

La Medicina del lavoro | 2000-01-01 | PMID 7565280

Landi M T

Use of case-control studies in the general population and in occupational cohorts to study genetic susceptibility and cancer risk.

La Medicina del lavoro | 2000-01-01 | PMID 7565281

Rothman N

A genetic marker for chronic beryllium disease.

La Medicina del lavoro | 2000-01-01 | PMID 7565282

Saltini C, Richeldi L

ALA-D genotype is not associated with HT or HB levels among workers exposed to low levels of lead.

La Medicina del lavoro | 2000-01-01 | PMID 7565283

Smith C M, Hu H, Wang X and 1 more

Immune regulation in Epstein-Barr virus-associated diseases

1995-09-01 | PMID 7565411

Maternal risk factors in fetal alcohol syndrome: Provocative and permissive influences

1995-07-01 | PMID 7565491

[Wild type p53 tumor suppressor gene and apoptosis in thyroid tumors: preliminary report].

Nihon Geka Gakkai zasshi | 1995-08-01 | PMID 7565583

Kikuchi S, Hiraide H, Tamakuma S and 1 more

Regulation of Interleukin 12 p40 Expression through an NF-κB Half-Site

1995-10-01 | PMID 7565674

An Interaction between the DNA Repair Factor XPA and Replication Protein A Appears Essential for Nucleotide Excision Repair

1995-10-01 | PMID 7565690

Collagenase Expression in Transgenic Mouse Skin Causes Hyperkeratosis and Acanthosis and Increases Susceptibility to Tumorigenesis

1995-10-01 | PMID 7565725

Overexpression of the Zinc Finger Protein MZF1 Inhibits Hematopoietic Development from Embryonic Stem Cells: Correlation with Negative Regulation of <i>CD34</i> and c-<i>myb</i> Promoter Activity

1995-11-01 | PMID 7565760

Reversal of In Vitro p53 Squelching by both TFIIB and TFIID

1995-11-01 | PMID 7565799

The somatic mutation theory of ageing.

Mutation research | 1995-10-01 | PMID 7565875

Morley A A

Deletional mutations are the basic cause of aging: historical perspectives.

Mutation research | 1995-10-01 | PMID 7565879

Strehler B L

Variability in adaptive response to low dose radiation in human blood lymphocytes: consistent results from chromosome aberrations and micronuclei

1995-09-01 | PMID 7565914

Desmin‐related neuromuscular disorders

1995-11-01 | PMID 7565929

Adult-Onset Spinocerebellar Dysfunction Caused by a Mutation in the Gene for the α-Tocopherol–Transfer Protein

1995-11-16 | PMID 7566022

Genome diversity alarms.

Nature | 1995-10-05 | PMID 7566102

Increased T-cell apoptosis and terminal B-cell differentiation induced by inactivation of the Ets-1 proto-oncogene

1995-10-01 | PMID 7566176

Defective activation and survival of T cells lacking the Ets-1 transcription factor

1995-10-01 | PMID 7566177

Hyperphosphorylation of Tau in PHF

1995-05-01 | PMID 7566346

Rett syndrome--distribution of phenotypes with special attention to the preserved speech variant.

Neuropediatrics | 1995-04-01 | PMID 7566462

Skjeldal O H, von Tetzchner S, Jacobsen K and 2 more

An intronic (A/U)GGG repeat enhances the splicing of an alternative intron of the chicken β-tropomyosin pre-mRNA

1995-01-01 | PMID 7567462

Incidence of congenital heart disease: II. Prenatal incidence

1995-07-01 | PMID 7567659

Genetic dissection of Alzheimer disease, a heterogeneous disorder.

1995-09-12 | PMID 7567974

Genetic analysis of type 1 diabetes using whole genome approaches.

1995-09-12 | PMID 7567975

Identification and localization of huntingtin in brain and human lymphoblastoid cell lines with anti-fusion protein antibodies.

1995-09-12 | PMID 7568002

Murine eotaxin: an eosinophil chemoattractant inducible in endothelial cells and in interleukin 4-induced tumor suppression.

1995-09-12 | PMID 7568052

Transfection and continuous expression of heterologous genes in the protozoan parasite Entamoeba histolytica.

1995-09-12 | PMID 7568055

Telomerase activity in normal and malignant hematopoietic cells.

1995-09-26 | PMID 7568077

Reduction of insulin gene transcription in HIT-T15 beta cells chronically exposed to a supraphysiologic glucose concentration is associated with loss of STF-1 transcription factor expression.

1995-09-26 | PMID 7568086

Recoverin, a photoreceptor-specific calcium-binding protein, is expressed by the tumor of a patient with cancer-associated retinopathy.

1995-09-26 | PMID 7568096

A biomarker that identifies senescent human cells in culture and in aging skin in vivo.

1995-09-26 | PMID 7568133

The leukemia-associated-protein (LAP) domain, a cysteine-rich motif, is present in a wide range of proteins, including MLL, AF10, and MLLT6 proteins.

1995-10-10 | PMID 7568208

Systemic gene therapy: biodistribution and long-term expression of a transgene in mice.

1995-10-10 | PMID 7568209

Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B.

1995-10-10 | PMID 7568224

Mutant oocytic low density lipoprotein receptor gene family member causes atherosclerosis and female sterility.

1995-10-10 | PMID 7568242

Coinfection and the evolution of parasite virulence

1995-08-22 | PMID 7568274

Molecular genetic analyses of myelin deficiency and cerebellar ataxia.

Progress in brain research | 1995-01-01 | PMID 7568881

Mikoshiba K, Okano H, Miyawaki A and 2 more

[DNA lesions produced by active oxygen and their induced mutations].

Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme | 1995-07-01 | PMID 7568960

Kamiya H, Kasai H

Association between different clinical manifestations of Lyme disease and different species of Borrelia burgdorferi sensu lato

1995-01-01 | PMID 7569327

[Dendritic cells].

La Revue de medecine interne | 1995-01-01 | PMID 7569427

Hosmalin A

Minisatellites and human disease.

Science (New York, N.Y.) | 1995-09-22 | PMID 7569893

Krontiris T G

Titins: Giant Proteins in Charge of Muscle Ultrastructure and Elasticity

1995-10-13 | PMID 7569978

Genetic Discrimination and Health Insurance: An Urgent Need for Reform

1995-10-20 | PMID 7569991

A time to sequence.

Science (New York, N.Y.) | 1995-10-20 | PMID 7569992

Olson M V

The Minimal Gene Complement of <i>Mycoplasma genitalium</i>

1995-10-20 | PMID 7569993

Gene Therapy in Peripheral Blood Lymphocytes and Bone Marrow for ADA ⁻ Immunodeficient Patients

1995-10-20 | PMID 7570000

T Lymphocyte-Directed Gene Therapy for ADA ⁻ SCID: Initial Trial Results After 4 Years

1995-10-20 | PMID 7570001

Colorectal cancer biology: clinical implications.

Seminars in oncology | 1995-10-01 | PMID 7570055

Johnston P G, Allegra C J

[Collagen genes and skeletal disorders].

Ryumachi. [Rheumatism] | 1995-06-01 | PMID 7570217

Kimura T, Tsumaki N, Matsui Y

[Is protein p53 an independent prognostic factor in bladder carcinoma?].

Strahlentherapie und Onkologie : Organ der Deutschen Rontgengesellschaft ... [et al] | 1995-09-01 | PMID 7570304

Keilholz L

Lack of mycobactin dependence of mycobacteria isolated on Middlebrook 7H11 from clinical cases of ovine paratuberculosis

1995-07-01 | PMID 7571372

Human Papillomavirus Type 11 Transcripts Are Present at Low Abundance in Latently Infected Respiratory Tissues

1995-10-01 | PMID 7571398

Viral Pathogens and ImmunityMutations Affecting the UL21 Gene Contribute to Avirulence of Pseudorabies Virus Vaccine Strain Bartha

1995-10-01 | PMID 7571416

Double-Subgenomic Sindbis Virus Recombinants Expressing Immunogenic Proteins of Japanese Encephalitis Virus Induce Significant Protection in Mice against Lethal JEV Infection

1995-10-01 | PMID 7571428

5′ Regions of HIV-1 RNAs Are Not Sufficient for Encapsidation: Implications for the HIV-1 Packaging Signal

1995-10-01 | PMID 7571442

[Human prion diseases and experimental transmission].

Uirusu | 1995-06-01 | PMID 7571449

Tateishi J

Molecular genetics and biophysics of prions.

Uirusu | 1995-06-01 | PMID 7571451

Prusiner S B

Human prenatal craniofacial development related to brain development under normal and pathologic conditions

1995-01-01 | PMID 7572088

Toward the identification of a gene for familial juvenile nephronophthisis (autosomal recessive medullary cystic kidney disease).

Advances in nephrology from the Necker Hospital | 1995-01-01 | PMID 7572421

Antignac C, Kleinknecht C, Habib R

Long QT syndrome associated with syndactyly identified in females

1995-10-01 | PMID 7572644

Streptococcus anginosus, Streptococcus constellatus and Streptococcus intermedius Clinical Relevance, Hemolytic and Serologic Characteristics

1995-11-01 | PMID 7572815

A new hemophilia B mutation in the propeptide region of the FIX gene.

American journal of hematology | 1995-10-01 | PMID 7572994

Chan V, Chan V W, Cherk S and 1 more

Balanced reciprocal translocation mosaicism: How frequent?

1995-07-17 | PMID 7573137

Premature infant with Wiedemann-Beckwith syndrome: postnatal changes in facial appearance and somatic phenotype.

American journal of medical genetics | 1995-07-17 | PMID 7573144

Stratakis C A, Garnica A

A human calcium-activated potassium channel gene expressed in vascular smooth muscle

1995-09-01 | PMID 7573516

Dopa‐responsive parkinsonism phenotype of Machado‐Joseph disease: Confirmation of 14q CAG expansion

1995-10-01 | PMID 7574470

Apolipoprotein E epsilon 4 and fatal cerebral amyloid angiopathy associated with dementia pugilistica.

Annals of neurology | 1995-10-01 | PMID 7574475

Jordan B D, Kanik A B, Horwich M S and 4 more

DIVERSITY OF OLIGONUCLEOTIDE FUNCTIONS

1995-06-01 | PMID 7574500

Genetic analysis of clinical isolates of Streptococcus pneumoniae with high-level resistance to expanded-spectrum cephalosporins

1995-06-01 | PMID 7574521

Intestinal floras of populations that have a high risk of colon cancer

1995-09-01 | PMID 7574628

Diversity in cyclic nucleotide phosphodiesterase isoenzyme families.

Archives of biochemistry and biophysics | 1995-09-10 | PMID 7574662

Manganiello V C, Murata T, Taira M and 2 more

Skin Type, but Neither Race nor Gender, Influence Epidermal Permeability Barrier Function

1995-10-01 | PMID 7574829

Polymorphism of blood plasma esterases in geese of the Anser genus (Aves: Anseriformes).

Biochemical genetics | 1995-06-01 | PMID 7575394

Kuznetsov S B

Tumour suppressors, kinases and clamps: How p53 regulates the cell cycle in response to DNA damage

1995-06-01 | PMID 7575491

Human Papillomavirus E6 and E7: Proteins which deregulate the cell cycle

1995-06-01 | PMID 7575492

Origins of G₁ arrest in senescent human fibroblasts

1995-06-01 | PMID 7575495

Galactose Stabilizes Various Missense Mutants of α-Galactosidase in Fabry Disease

1995-09-01 | PMID 7575533

Presence of nucleosome‐restricted antibodies in patients with systemic lupus erythematosus

1995-10-01 | PMID 7575698

Polymerase chain reaction-based genotyping of the constant segment of immunoglobulin kappa shows weak or no association with rheumatoid arthritis.

Arthritis and rheumatism | 1995-10-01 | PMID 7575706

Singh R, Han J, Moxley G

Association of HLA-DR5 (possibly DRB1*1201) with the primary antiphospholipid syndrome in Mexican patients.

Arthritis and rheumatism | 1995-09-01 | PMID 7575732

Vargas-Alarcon G, Granados J, Bekker C and 2 more

BTKbase: a database of XLA-causing mutations. International Study Group.

Immunology today | 1995-10-01 | PMID 7576047

Vihinen M, Cooper M D, de Saint Basile G and 7 more

Linkage of cell-mediated immunity to iron metabolism

1995-10-01 | PMID 7576054

Localization of nucleic acids in the nucleoli of oocytes and early embryos of mouse and hamster: An autoradiographic study

1995-08-01 | PMID 7576612

Flies, genes, learning, and memory.

Neuron | 1995-10-01 | PMID 7576623

Greenspan R J