Biomedical publications with connected research

Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome.

Journal of medical genetics | 2003-08-01 | PMID 12920073

Zweier C, Temple I K, Beemer F and 5 more

Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene.

Journal of medical genetics | 2003-08-01 | PMID 12920074

Herasse M, Spentchian M, Taillandier A and 7 more

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections.

Journal of medical genetics | 2003-08-01 | PMID 12920075

Zito I, Downes S M, Patel R J and 9 more

Genes: RPGR

Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy.

Journal of medical genetics | 2003-08-01 | PMID 12920076

Hameed A, Abid A, Aziz A and 3 more

Genes: RPGRIP1

Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide.

Journal of medical genetics | 2003-08-01 | PMID 12920077

Wilcken B, Bamforth F, Li Z and 29 more

Genes: MTHFR

Small babies receive the cardiovascular protective apolipoprotein epsilon 2 allele less frequently than expected.

Journal of medical genetics | 2003-08-01 | PMID 12920078

Infante-Rivard C, Lévy E, Rivard G-E and 2 more

Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3.

Journal of medical genetics | 2003-08-01 | PMID 12920079

Lee Y J, Park D, Kim S Y and 1 more

Genes: TMPRSS3

Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss.

Journal of medical genetics | 2003-08-01 | PMID 12920080

del Castillo F J, Rodríguez-Ballesteros M, Martín Y and 11 more

Uniparental disomy of chromosome 13q causing homozygosity for the 35delG mutation in the gene encoding connexin26 (GJB2) results in prelingual hearing impairment in two unrelated Spanish patients.

Journal of medical genetics | 2003-08-01 | PMID 12920081

Alvarez A, del Castillo I, Pera A and 5 more

Genes: GJB2

Individual and family characteristics associated with protein truncating BRCA1 and BRCA2 mutations in an Ontario population based series from the Cooperative Family Registry for Breast Cancer Studies.

Journal of medical genetics | 2003-08-01 | PMID 12920083

Ozcelik H, Knight J A, Glendon G and 8 more

Genes: BRCA1, BRCA2

Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event

2003-08-01 | PMID 12920085

Genetic refinement and physical mapping of a biparental complete hydatidiform mole locus on chromosome 19q13.4.

2003-08-01 | PMID 12920087

A novel germline mutation in the MET extracellular domain in a Korean patient with the diffuse type of familial gastric cancer

2003-08-01 | PMID 12920089

BRCA1 and BRCA2 mutations have no major role in predisposition to prostate cancer in Finland.

Journal of medical genetics | 2003-08-01 | PMID 12920090

Ikonen T, Matikainen M P, Syrjäkoski K and 7 more

Genes: BRCA1, BRCA2

Multiple exon skipping and RNA circularisation contribute to the severe phenotypic expression of exon 5 dystrophin deletion.

Journal of medical genetics | 2003-08-01 | PMID 12920092

Gualandi F, Trabanelli C, Rimessi P and 6 more

Prevalence of optineurin sequence variants in adult primary open angle glaucoma: implications for diagnostic testing.

Journal of medical genetics | 2003-08-01 | PMID 12920093

Aung T, Ebenezer N D, Brice G and 5 more

Identification of a splice acceptor site mutation in p16INK4A/p14ARF within a breast cancer, melanoma, neurofibroma prone kindred.

Journal of medical genetics | 2003-08-01 | PMID 12920094

Prowse A H, Schultz D C, Guo S and 6 more

Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers

2003-08-01 | PMID 12920095

The Molecular Action and Regulation of the Testis-Determining Factors, SRY (Sex-Determining Region on the Y Chromosome) and SOX9 [SRY-Related High-Mobility Group (HMG) Box 9]

2003-08-01 | PMID 12920151

The Interplay between the Glucocorticoid Receptor and Nuclear Factor-κB or Activator Protein-1: Molecular Mechanisms for Gene Repression

2003-08-01 | PMID 12920152

Publication of stand-alone single nucleotide polymorphism (SNP) discovery data.

Drug metabolism and disposition: the biological fate of chemicals | 2003-09-01 | PMID 12920158

Hines Ronald N

Nuclear reprogramming and stem cell creation

2003-09-30 | PMID 12920185

HILS1 is a spermatid-specific linker histone H1-like protein implicated in chromatin remodeling during mammalian spermiogenesis

2003-08-14 | PMID 12920187

Discovery in Silico and Characterization in Vitro of Novel Genes Exclusively Expressed in the Mouse Epididymis

2003-08-19 | PMID 12920233

Virology. Weapons of mutational destruction.

Science (New York, N.Y.) | 2003-08-15 | PMID 12920286

KewalRamani Vineet N, Coffin John M

Genetics. Modifying the message.

Science (New York, N.Y.) | 2003-08-15 | PMID 12920288

Nadeau Joseph H

Hirschsprung Disease Is Linked to Defects in Neural Crest Stem Cell Function

2003-08-14 | PMID 12920301

Familial Leiomyomatosis: A Review and Discussion of Pathogenesis

2003-01-01 | PMID 12920381

Adverse drug reactions to oxycodone and hydrocodone in CYP2D6 ultrarapid metabolizers.

Journal of clinical psychopharmacology | 2003-08-01 | PMID 12920424

de Leon Jose, Dinsmore Lori, Wedlund Peter

Myocardin mRNA is augmented in the failing myocardium: expression profiling in the porcine model and human dilated cardiomyopathy

2003-09-01 | PMID 12920479

Analysis of MYH Tyr165Cys and Gly382Asp variants in childhood leukemias.

Journal of cancer research and clinical oncology | 2003-10-01 | PMID 12920580

Akyerli Cemaliye Boylu, Ozbek Uğur, Aydin-Sayitoğlu Müge and 2 more

[Gene therapy in transplantation: experimental approaches to the transfer of the anti-inflammatory and cytostatic genes for transplant maintenance].

Deutsche medizinische Wochenschrift (1946) | 2003-08-15 | PMID 12920669

Ritter T, Volk H-D

Molecular–Genetic Imaging: A Nuclear Medicine–Based Perspective

2002-07-01 | PMID 12920854

Review of Twin and Adoption Studies of Adolescent Substance Use

2003-06-01 | PMID 12921479

Activated Notch1 prevents differentiation of pancreatic acinar cells and attenuate endocrine development

2003-07-16 | PMID 12921743

Familial bipolar disorder and multiple sclerosis: a three-generation HLA family study

2003-06-09 | PMID 12921917

Comparison of interphase FISH and metaphase cytogenetics to study myelodysplastic syndrome: an Eastern Cooperative Oncology Group (ECOG) study

2003-05-28 | PMID 12921944

A twin study of C-Reactive Protein compared to other risk factors for coronary heart disease

2003-06-30 | PMID 12921979

Trafficking of viral genomic RNA into and out of the nucleus: influenza, Thogoto and Borna disease viruses

2003-08-01 | PMID 12921991

Nucleolar-cytoplasmic shuttling of PRRSV nucleocapsid protein: a simple case of molecular mimicry or the complex regulation by nuclear import, nucleolar localization and nuclear export signal sequences

2003-08-12 | PMID 12921993

Inhibition of nucleo-cytoplasmic trafficking by RNA viruses: targeting the nuclear pore complex

2003-08-01 | PMID 12921994

Encephalomyocarditis viral protein 2A localizes to nucleoli and inhibits cap-dependent mRNA translation

2003-08-01 | PMID 12921995

Encephalomyocarditis virus (EMCV) proteins 2A and 3BCD localize to nuclei and inhibit cellular mRNA transcription but not rRNA transcription

2003-08-01 | PMID 12921996

Control of Vascular Cell Differentiation by Homeobox Transcription Factors

2003-08-01 | PMID 12922016

Hey Genes in Cardiovascular Development

2003-08-01 | PMID 12922017

Comparison of protective efficacies of plasmid DNAs encoding Japanese encephalitis virus proteins that induce neutralizing antibody or cytotoxic T lymphocytes in mice

2003-06-03 | PMID 12922097

Analysis of anamnestic immune responses in adult horses and priming in neonates induced by a DNA vaccine expressing the vapA gene of Rhodococcus equi

2003-05-19 | PMID 12922115

Tricuspid regurgitation in the diagnosis of chromosomal anomalies in the fetus at 11–14 weeks of gestation

2003-08-15 | PMID 12923032

Tubal damage in infertile women: prediction using chlamydia serology

2003-08-16 | PMID 12923136

Reproductive capacity of sperm obtained after germ cell transplantation in a mouse model

2003-08-15 | PMID 12923142

Monozygotic twinning following assisted conception: an analysis of 81 consecutive cases

2003-08-15 | PMID 12923153

Immunolocalization of Sperm Protein 17 in Human Testis and Ejaculated Spermatozoa

2003-09-01 | PMID 12923251

Pharmacoeconomic analysis of thiopurine methyltransferase polymorphism screening by polymerase chain reaction for treatment with azathioprine in Korea

2003-09-16 | PMID 12923290

Honor thy symbionts

2003-08-15 | PMID 12923294

Using genetics to understand auditory function and improve diagnosis.

Ear and hearing | 2003-08-01 | PMID 12923417

Battey James F

Genomic profiling to promote a healthy lifestyle: not ready for prime time.

Nature genetics | 2003-08-01 | PMID 12923535

Haga Susanne B, Khoury Muin J, Burke Wylie

From cilia to cyst

2003-08-01 | PMID 12923538

A novel tetracycline-controlled transactivator–transrepressor system enables external control of oncolytic adenovirus replication

2003-08-18 | PMID 12923567

Proteomic changes in renal cancer and co‐ordinate demonstration of both the glycolytic and mitochondrial aspects of the Warburg effect

2003-08-01 | PMID 12923786

[Cystic fibrosis].

Nihon Naika Gakkai zasshi. The Journal of the Japanese Society of Internal Medicine | 2003-07-10 | PMID 12924262

Yoshimura Kunihiko

Study of different systems for interpreting results of genotypic antiretroviral drug resistance tests.

Antiviral therapy | 2003-06-01 | PMID 12924543

García Federico, Palomares José Carlos, Martínez Nora Mariela and 6 more

Interferon-alpha for reinfection with hepatitis C virus in two patients with chronic hepatitis C who had responded to previous therapies.

Digestive diseases and sciences | 2003-08-01 | PMID 12924664

Akuta Norio, Suzuki Fumitaka, Tsubota Akihito and 8 more

Shared oligodendrocyte lineage gene expression in gliomas and oligodendrocyte progenitor cells

2003-08-01 | PMID 12924709

Thresholds of Nitric Oxide-Mediated Toxicity in Human Lymphoblastoid Cells

2003-07-19 | PMID 12924928

Nods, Nalps and Naip: intracellular regulators of bacterial-induced inflammation

2003-08-15 | PMID 12925128

Spectrum of PTCH1 Mutations in French Patients with Gorlin Syndrome

2003-08-19 | PMID 12925203

Mutations in the Sarcoplasmic/Endoplasmic Reticulum Ca2+ ATPase Isoform Cause Darier's Disease

2003-08-19 | PMID 12925205

Role of Monocyte Chemoattractant Protein-1 and its Receptor,CCR-2, in the Pathogenesis of Bleomycin-Induced Scleroderma

2003-08-19 | PMID 12925209

Molecular Responses to Photogenotoxic Stress Induced by the Antibiotic Lomefloxacin in Human Skin Cells: From DNA Damage to Apoptosis

2003-08-19 | PMID 12925221

A Novel Mutation in the PSEN2 Gene (T430M) Associated With Variable Expression in a Family With Early-Onset Alzheimer Disease

2003-08-01 | PMID 12925374

Heterozygous prothrombin G20210A gene mutation in a patient with livedoid vasculitis.

Archives of dermatology | 2003-08-01 | PMID 12925402

Gotlib Jason, Kohler Sabine, Reicherter Paul and 2 more

Functional Consequence of Serotonin/5-HT 2B Receptor Signaling in Heart

2003-08-18 | PMID 12925446

A Genome-Wide Scan for Urinary Albumin Excretion in Hypertensive Families

2003-08-19 | PMID 12925555

Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia

2003-08-12 | PMID 12925574

Crucial roles of Brn1 in distal tubule formation and function in mouse kidney

2003-08-18 | PMID 12925600

CLINICAL APPLICATIONS OF RECOMBINANT HUMAN BMPS

2003-01-01 | PMID 12925614

Variation in Gene Expression Patterns in Human Gastric Cancers

2003-04-22 | PMID 12925757

Subcellular Localization and Activity of Multidrug Resistance Proteins

2003-04-22 | PMID 12925771

Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation

2003-10-01 | PMID 12925875

Chromosomal loci influencing chronic alcohol withdrawal severity

2003-07-01 | PMID 12925894

Role of the stromal microenvironment in carcinogenesis of the prostate

2003-08-13 | PMID 12925950

Smoking, DNA repair capacity and risk of nonsmall cell lung cancer

2003-08-13 | PMID 12925960

Image-guided Control of Transgene Expression Based on Local Hyperthermia

2003-01-01 | PMID 12926233

Aberrant recombination and the origin of Klinefelter syndrome

2003-07-01 | PMID 12926525

PGD in 47,XXY Klinefelter's syndrome patients

2003-07-01 | PMID 12926526

Role of sperm chromatin abnormalities and DNA damage in male infertility

2003-07-01 | PMID 12926527

Evolving ethics in medically assisted reproduction

2003-07-01 | PMID 12926532

Novel N160I mutation of keratin 9 in a large pedigree from Hungary with epidermolytic palmoplantar keratoderma.

Acta dermato-venereologica | 2003-01-01 | PMID 12926810

Csikós Marta, Holló Péter, Becker Krisztina and 3 more

ATM-Dependent and -Independent Gene Expression Changes in Response to Oxidative Stress, Gamma Irradiation, and UV Irradiation

2003-09-01 | PMID 12926986

BRCA2mutation carriers, reproductive factors and breast cancer risk

2003-07-02 | PMID 12927042

β class II tubulin predominates in normal and tumor breast tissues

2003-08-02 | PMID 12927047

Genotoxic effects of vanadium(IV) in human peripheral blood cells

2003-07-31 | PMID 12927353

Genome-based design of a cell-free culture medium for Tropheryma whipplei

2003-08-01 | PMID 12927433

Macrophage—Mycobacterium tuberculosis interactions: role of complement receptor 3

2003-08-01 | PMID 12927520

Unique and Conserved Features of Genome and Proteome of SARS-coronavirus, an Early Split-off From the Coronavirus Group 2 Lineage

2003-08-01 | PMID 12927536

Long-chain polyamines (oligoamines) exhibit strong cytotoxicities against human prostate cancer cells

2003-08-12 | PMID 12927874

Molecular characterization of sea bass gonadotropin subunits (α, FSHβ, and LHβ) and their expression during the reproductive cycle

2003-06-09 | PMID 12928011

Severe acute respiratory syndrome: identification of the etiological agent

2003-08-01 | PMID 12928032

Repairing the tears: dysferlin in muscle membrane repair.

Trends in molecular medicine | 2003-08-01 | PMID 12928033

Doherty Katherine R, McNally Elizabeth M

Mechanisms of benzene-induced hematotoxicity and leukemogenicity: cDNA microarray analyses using mouse bone marrow tissue.

2003-08-01 | PMID 12928149