Biomedical publications with connected research

Severe cystic fibrosis phenotype in a delta F508/3272-26A-->G compound heterozygote.

Journal of medical genetics | 1995-11-01 | PMID 8592345

Bienvenu T, Beldjord C, Kaplan J C and 2 more

Isolation and analysis of mitochondrial inheritance mutants from Saccharomyces cerevisiae.

Methods in enzymology | 1995-01-01 | PMID 8592466

Yaffe M P

Ubiquinol-cytochrome-c oxidoreductase from Saccharomyces cerevisiae.

Methods in enzymology | 1995-01-01 | PMID 8592471

Tzagoloff A

Coexistence of Hereditary Homocystinuria and Factor V Leiden — Effect on Thrombosis

1996-03-21 | PMID 8592550

Molecular mechanisms of iron uptake in eukaryotes

1996-01-01 | PMID 8592731

Cellular changes involved in conversion of normal to malignant breast: importance of the stromal reaction

1996-01-01 | PMID 8592733

Neurones from stem cells?

Trends in neurosciences | 1995-11-01 | PMID 8592748

Svendsen C N, Rosser A E

A possible association between Salmonella livingstone strains from man and poultry in Scotland.

The Veterinary record | 1995-11-18 | PMID 8592817

Old D C, McLaren I M, Wray C

Extended-spectrum and inhibitor-resistant TEM-type beta-lactamases: mutations, specificity, and three-dimensional structure.

Antimicrobial agents and chemotherapy | 1995-12-01 | PMID 8592985

Knox J R

Genetic basis of macrolide resistance in Mycobacterium avium isolated from patients with disseminated disease

1995-12-01 | PMID 8592991

The role of thrombospondin‐1 in tumor progression and angiogenesis

1996-01-01 | PMID 8593167

IS6110 restriction fragment length polymorphism typing of clinical isolates of Mycobacterium tuberculosis from patients with pulmonary tuberculosis in Madras, South India

1995-12-01 | PMID 8593378

Exogenous reinfection with multidrug-resistant Mycobacterium tuberculosis in an immunocompetent patient

1995-12-01 | PMID 8593382

Expression of DAX-1, the Gene Responsible for X-Linked Adrenal Hypoplasia Congenita and Hypogonadotropic Hypogonadism, in the Hypothalamic-Pituitary-Adrenal/Gonadal Axis

1995-10-01 | PMID 8593542

DNA fragmentation in granular cells of human cerebellum following global ischemia

1995-10-01 | PMID 8593583

Immunohistochemical study of seminiferous epithelium in adult bovine testis using monoclonal antibodies against Ki-67 protein and proliferating cell nuclear antigen (PCNA)

1996-01-16 | PMID 8593648

Declining semen quality and increasing incidence of testicular cancer: is there a common cause?

1995-10-01 | PMID 8593860

Cyclin D and retinoblastoma gene product expression in actinic keratosis and cutaneous squamous cell carcinoma in relation to p53 expression

1995-10-01 | PMID 8594075

Cytotoxic Compounds from a Two-Sponge Association

1995-11-01 | PMID 8594149

Induced Pocket to Accommodate the Cell Attachment Arg-Gly-Asp Motif in a Neutralizing Antibody Against Foot-and-Mouth-Disease Virus

1996-02-01 | PMID 8594203

Neuronal Apoptosis: Current Understanding of Molecular Mechanisms and Potential Role in Ischemic Brain Injury

1995-10-01 | PMID 8594212

Pilus biogenesis and epithelial cell adherence of <i>Neisseria gonorrhoeae pilC</i> double knock‐out mutants

1995-09-01 | PMID 8594326

Purification and enzymatic and functional characterization of DNA polymerase beta-like enzyme, POL4. expressed during yeast meiosis.

Methods in enzymology | 1995-01-01 | PMID 8594342

Budd M E, Campbell J L

Analyzing fidelity of DNA polymerases.

Methods in enzymology | 1995-01-01 | PMID 8594349

Bebenek K, Kunkel T A

DNA replication of bacteriophage T4 in vivo.

Methods in enzymology | 1995-01-01 | PMID 8594380

Mosig G, Colowick N

APC gene: database of germline and somatic mutations in human tumors and cell lines

1996-01-01 | PMID 8594558

Software and database for the analysis of mutations in the human FBN1 gene

1996-01-01 | PMID 8594563

Somatic point mutations in the p53 gene of human tumors and cell lines: updated compilation

1996-01-01 | PMID 8594564

p53 gene mutation: software and database

1996-01-01 | PMID 8594565

FlyBase: the Drosophila database.

Nucleic acids research | 1996-01-01 | PMID 8594600

Detection of Leishmania in the blood of early kala-azar patients with the aid of the polymerase chain reaction

1995-11-01 | PMID 8594675

An improved method of data collection for transferrin polymorphism in coho salmon (Oncorhynchus kisutch).

Biochemical genetics | 1995-08-01 | PMID 8595052

Van Doornik D M, Milner G B, Winans G A

[Changes in heart function in response to administering adrenaline to rats with hereditary arterial hypertension (an EKG study)].

Biulleten' eksperimental'noi biologii i meditsiny | 1995-10-01 | PMID 8595223

Iakobson G S, Antonov A R, Letiagina V V and 2 more

[Genotypic, sex and age differences in appearance of the mutagenic effect of cyclophosphamide in mice].

Biulleten' eksperimental'noi biologii i meditsiny | 1995-10-01 | PMID 8595228

Durnev A D, Guseva N V, Sazontova T G and 2 more

[Alterations in proto-oncogenes c-myc, Ha-ras and Ki-ras in experimental mesothelioma in rats].

Biulleten' eksperimental'noi biologii i meditsiny | 1995-10-01 | PMID 8595236

Kleĭmenova E V, Khoresovski i G, Vasil'eva L A and 2 more

Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy.

Human molecular genetics | 1995-10-01 | PMID 8595406

Klauck S M, Wilgenbus P, Yates J R and 2 more

Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families

1995-01-01 | PMID 8595410

Intragenic mutations of CDKN2B and CDKN2A in primary human esophageal cancers

1995-01-01 | PMID 8595411

A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat

1995-01-01 | PMID 8595416

A new human gene from the Down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart

1995-01-01 | PMID 8595418

Novel mutations and inactivation of both alleles of the APC gene in desmoid tumors.

Human molecular genetics | 1995-10-01 | PMID 8595425

Palmirotta R, Curia M C, Esposito D L and 7 more

Genes: APC

Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function.

Human molecular genetics | 1995-10-01 | PMID 8595426

McAllister K A, Baldwin M A, Thukkani A K and 5 more

Two novel splicing mutations in the XPA gene in patients with group A xeroderma pigmentosum.

Human molecular genetics | 1995-10-01 | PMID 8595429

Satokata I, Uchiyama M, Tanaka K

Genes: XPA

Scanning of the Wiskott-Aldrich syndrome (WAS) gene: identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype.

Human molecular genetics | 1995-10-01 | PMID 8595430

Kwan S P, Hagemann T L, Blaese R M and 2 more

Rapid detection of the G1691A mutation of coagulation factor V by PCR-mediated site-directed mutagenesis.

Clinical chemistry | 1996-02-01 | PMID 8595733

Guillerm C, Lellouche F, Darnige L and 3 more

Bone Morphogenetic Protein-2

1996-03-01 | PMID 8595775

cDNA Sequence, Gene Structure, and Chromosomal Localization of the Human ATP-Sensitive Potassium Channel, uKATP-1, Gene (KCNJ8)

1995-11-01 | PMID 8595887

cDNA Sequence and Chromosomal Localization of a Novel Human Protein, RBQ-1 (RBBP6), That Binds to the Retinoblastoma Gene Product

1995-11-01 | PMID 8595913

The genetic basis of Gilbert's syndrome.

Lancet (London, England) | 1996-03-02 | PMID 8596313

Sato H, Adachi Y, Koiwai O

Alzheimer's disease in Finnish twins

1996-03-01 | PMID 8596319

Treatment protocols for transgenic mutation assays in vivo.

Mutagenesis | 1995-11-01 | PMID 8596464

Heddle J A, Shaver-Walker P, Tao K S and 1 more

Knockout mice.

The New England journal of medicine | 1996-04-04 | PMID 8596575

Majzoub J A, Muglia L J

Down's syndrome-like skeletal abnormalities in Ets2 transgenic mice

1996-02-01 | PMID 8596630

AT-AC introns: an ATtACk on dogma.

Science (New York, N.Y.) | 1996-03-22 | PMID 8596928

Mount S M

Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1)

1996-03-22 | PMID 8596935

An RNA Polymerase II Elongation Factor Encoded by the Human <i>ELL</i> Gene

1996-03-29 | PMID 8596958

Control and function of complex-type oligosaccharide synthesis. Novel variants of the lacNAc pathway.

Advances in experimental medicine and biology | 1995-01-01 | PMID 8597262

Van den Eijnden D H, Neeleman A P, Van der Knaap W P and 3 more

Safety and Feasibility of Liver-Directed Ex Vivo Gene Therapy for Homozygous Familial Hypercholesterolemia

1996-02-01 | PMID 8597504

Phenotype modulation of human adult fibroblasts by oncogenes.

Molecular carcinogenesis | 1996-03-01 | PMID 8597528

Kopelovich L, Demian S E

Liver regeneration and hepatocarcinogenesis in transforming growth factor-α-targeted mice

1996-03-01 | PMID 8597531

Mapping of the calcium-sensing receptor gene (CASR) to human Chromosome 3q13.3-21 by fluorescence in situ hybridization, and localization to rat Chromosome 11 and mouse Chromosome 16

1995-11-01 | PMID 8597637

Evidence of deteriorating semen quality in the United Kingdom: birth cohort study in 577 men in Scotland over 11 years

1996-02-24 | PMID 8597676

Hemochromatosis: The genetic disorder of the twenty–first century

1996-04-01 | PMID 8597942

Pathogens & strain diversity: is sex disruptive?

Nature medicine | 1996-04-01 | PMID 8597947

Freimer N B, Blower S, Slatkin M

Expression of human β–hexosaminidase α–subunit gene (the gene defect of Tay–Sachs disease) in mouse brains upon engraftment of transduced progenitor cells

1996-04-01 | PMID 8597952

Impaired Negative Selection of T Cells in Hodgkin's Disease Antigen CD30–Deficient Mice

1996-02-01 | PMID 8598042

Hepatocyte Nuclear Factor 1 Inactivation Results in Hepatic Dysfunction, Phenylketonuria, and Renal Fanconi Syndrome

1996-02-01 | PMID 8598044

The molecular epidemiology of oncoproteins. Serum p53 protein in patients with asbestosis.

Chest | 1996-03-01 | PMID 8598138

Hemminki K, Partanen R, Koskinen H and 3 more

Major histocompatibility complex class II genes control susceptibility to hypersensitivity pneumonitis in the mouse.

Chest | 1996-03-01 | PMID 8598166

Donnelly K B, Brooks B O, Cruz E S and 1 more

Identification and properties of the RNA‐dependent RNA polymerase of hepatitis C virus.

1996-01-01 | PMID 8598194

Involvement ofMDR1 P-glycoprotein in multifactorial resistance to methotrexate

1996-03-01 | PMID 8598312

Common MCAD mutation in a healthy parent of two affected siblings.

Journal of inherited metabolic disease | 1995-01-01 | PMID 8598647

Heptinstall L E, Till J, Wraith J E and 1 more

Prenatal testing for caprine N-acetylglucosamine-6-sulphatase deficiency and sex identification.

Journal of inherited metabolic disease | 1995-01-01 | PMID 8598652

Leipprandt J R, Friderici K, Sprecher D J and 1 more

A new variant of prion disease.

Lancet (London, England) | 1996-04-06 | PMID 8598749

Collinge J, Rossor M

Inherited Metabolic Myopathy and Hemolysis Due to a Mutation in Aldolase A

1996-04-25 | PMID 8598869

Sheep cloned by nuclear transfer from a cultured cell line

1996-03-01 | PMID 8598906

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1996-03-01 | PMID 8598978

[Low-grade non-Hodgkin's lymphomas and their cytofunctional correlation with peripheral compartments of normal lymphoid tissue].

Revista clinica espanola | 1995-12-01 | PMID 8599048

Sánchez Fayos J, Román Barbero A, Sánchez-Fayos Calabuig M P and 2 more

Human Foamy Virus Replication: A Pathway Distinct from That of Retroviruses and Hepadnaviruses

1996-03-15 | PMID 8599113

HIV-1 Dynamics in Vivo: Virion Clearance Rate, Infected Cell Life-Span, and Viral Generation Time

1996-03-15 | PMID 8599114

Persistence of Japanese Encephalitis Virus Is Associated with Abnormal Expression of the Nonstructural Protein NS1 in Host Cells

1996-03-01 | PMID 8599206

Antigenic Mapping of the Recombinant Norwalk Virus Capsid Protein Using Monoclonal Antibodies

1996-03-01 | PMID 8599210

Paracentric inversions do not normally generate monocentric recombinant chromosomes

1995-11-20 | PMID 8599369

Cholesteryl ester transfer protein deficiency: identification in the Chinese.

American journal of medical genetics | 1995-11-20 | PMID 8599372

Akita H, Chiba H, Hui S P and 3 more

X-linked retinitis pigmentosa: report of a large kindred with loss of central vision and preserved peripheral function.

American journal of medical genetics | 1995-11-20 | PMID 8599373

Shastry B S, Trese M T

Use of hair root as a source of DNA for the detection of heterozygotes for recessive defects in cattle.

Australian veterinary journal | 1995-10-01 | PMID 8599573

Healy P J, Dennis J A, Moule J F

cis-Diamminedichloroplatinum(II)-induced cell death through apoptosis in sensitive and resistant human ovarian carcinoma cell lines

1996-03-01 | PMID 8599870

Concomitant overexpression of theEGFR anderbB-2 genes in renal cell carcinoma (RCC) is correlated with dedifferentiation and metastasis

1996-02-20 | PMID 8600053

Overview of natural history, pathology, molecular genetics and management of HNPCC (Lynch syndrome)

1996-02-20 | PMID 8600057

Genetic testing for colon cancer susceptibility: Anticipated reactions of patients and challenges to providers

1996-02-20 | PMID 8600064

MCL-1, a member of the BCL-2 family, is induced rapidly in response to signals for cell differentiation or death, but not to signals for cell proliferation

1996-03-01 | PMID 8600156

Alternative Splicing of Amelogenin mRNA from Rat Incisor Ameloblasts

1995-12-01 | PMID 8600184

Concordance for childhood cancer in twins

1996-04-01 | PMID 8600332

Simple and sensitive detection of mutations in the ras proto-oncogenes using PNA-mediated PCR clamping.

Nucleic acids research | 1996-03-01 | PMID 8600471

Thiede C, Bayerdörffer E, Blasczyk R and 2 more

When you make a diagnosis of lymphomatoid papulosis (LYP), do you mean to imply that the patient has lymphoma? If not, what is it?

The American Journal of dermatopathology | 1995-04-01 | PMID 8600789

Detection and identification of Ki-ras exon 1 mutations by minigel single-strand conformation polymorphism.

Analytical biochemistry | 1995-11-20 | PMID 8600822

Ulvik A, Aarskog N K, Ogreid D

The expression of proopiomelanocortin (POMC) and of corticotropin releasing hormone receptor (CRH-R) genes in mouse skin

1996-03-15 | PMID 8600981

Restricted expression of the ron gene encoding the macrophage stimulating protein receptor during mouse development

1995-12-01 | PMID 8601032

<i>Cdk</i> family genes are expressed not only in dividing but also in terminally differentiated mouse germ cells, suggesting their possible function during both cell division and differentiation

1995-12-01 | PMID 8601034

Primary structure of the long and short splice variants of mouse collagen XII and their tissue‐specific expression during embryonic development

1995-12-01 | PMID 8601036