Biomedical publications with connected research

<i>NF1</i> mutations and clinical spectrum in patients with spinal neurofibromas

2003-05-01 | PMID 12746402

Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome.

Journal of medical genetics | 2003-05-01 | PMID 12746405

Gill H, Cheadle J P, Maynard J and 13 more

Genes: MECP2

Multicolour FISH fine mapping unravels an insertion as a complex chromosomal rearrangement involving six breakpoints and a 5.89 Mb large deletion.

Journal of medical genetics | 2003-05-01 | PMID 12746414

Kraus J, Cohen M, Speicher M R

Partial trisomy 10q with mild phenotype caused by an unbalanced X;10 translocation.

Journal of medical genetics | 2003-05-01 | PMID 12746415

Mononen T, Sharp A, Laakso M and 3 more

Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome.

Journal of medical genetics | 2003-05-01 | PMID 12746416

Meins M, Burfeind P, Motsch S and 7 more

Maternal 677CT/1298AC genotype of the MTHFR gene as a risk factor for cleft lip.

Journal of medical genetics | 2003-05-01 | PMID 12746418

Shotelersuk V, Ittiwut C, Siriwan P and 1 more

Genes: MTHFR

Searching for genomic variants in the MESTIT1 transcript in Silver-Russell syndrome patients.

Journal of medical genetics | 2003-05-01 | PMID 12746419

Meyer E, Wollmann H A, Eggermann T

A common IL-1 complex haplotype is associated with an increased risk of atopy.

Journal of medical genetics | 2003-05-01 | PMID 12746420

Pessi T, Karjalainen J, Hulkkonen J and 2 more

Novel sarcoglycan gene mutations in a large cohort of Italian patients.

Journal of medical genetics | 2003-05-01 | PMID 12746421

Boito C, Fanin M, Siciliano G and 2 more

Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India.

Journal of medical genetics | 2003-05-01 | PMID 12746422

RamShankar M, Girirajan S, Dagan O and 5 more

Genes: GJB2

ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy.

Journal of medical genetics | 2003-05-01 | PMID 12746424

Müllenbach R, Linton K J, Wiltshire S and 7 more

Genes: ABCB4

A novel mutation (R218Q) at the boundary between the N-terminal and the first transmembrane domain of the glycine receptor in a case of sporadic hyperekplexia.

Journal of medical genetics | 2003-05-01 | PMID 12746425

Miraglia Del Giudice E, Coppola G, Bellini G and 3 more

Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients.

Journal of medical genetics | 2003-05-01 | PMID 12746426

Cebrián A, Ruiz-Llorente S, Cascón A and 6 more

Genes: MEN1

Mutation and LOH analysis of ACO2 in colorectal cancer: no evidence of biallelic genetic inactivation.

Journal of medical genetics | 2003-05-01 | PMID 12746427

Laiho P, Hienonen T, Mecklin J-P and 4 more

Genes: ACO2

Detection of tRNA-like Structure through RNase P Cleavage of Viral Internal Ribosome Entry Site RNAs Near the AUG Start Triplet

2003-07-01 | PMID 12746454

Exercise assessment of transgenic models of human cardiovascular disease

2003-05-13 | PMID 12746466

Asialoerythropoietin is a nonerythropoietic cytokine with broad neuroprotective activity <i>in vivo</i>

2003-05-13 | PMID 12746497

Optimization and individualization of thiopurine therapy in inflammatory bowel disease: the great variability among drug responses.

The pharmacogenomics journal | 2003-01-01 | PMID 12746731

Scherl E, Subbaramiah K

Prostate cancer expression of runt‐domain transcription factor Runx2, a key regulator of osteoblast differentiation and function

2003-05-08 | PMID 12746842

Virulence Factors in Food, Clinical and Reference Enterococci: A Common Trait in the Genus?

2003-01-01 | PMID 12747405

Enumeration of Bacteroides Species in Human Faeces by Fluorescent in situ Hybridisation Combined with Flow Cytometry Using 16S rRNA Probes

2003-01-01 | PMID 12747418

Haemophilia B: From Molecular Diagnosis to Gene Therapy

2003-01-25 | PMID 12747585

Which, and how limited number of polymorphisms should be selected per disease, risk assessment, health profile or biological system?

Clinical chemistry and laboratory medicine | 2003-04-01 | PMID 12747602

Masana L, Madan T, Visvikis S and 9 more

Ethical issues: should we give the predictive genetic profile to the citizens?

Clinical chemistry and laboratory medicine | 2003-04-01 | PMID 12747603

Dembinska-Kiec A, Madan T, Batt A M and 8 more

Aromatase expression and role of estrogens in male gonad : a review

2003-04-11 | PMID 12747806

Huntingtin aggregation and toxicity in Huntington's disease

2003-05-01 | PMID 12747895

Molecular typing of clinical and environmental isolates in the Brazilian state Rio Grande do Sul

2003-05-13 | PMID 12748052

Apoptosis Genes in Human Alveolar Macrophages Infected with Virulent or Attenuated <i>Mycobacterium tuberculosis</i>

2003-05-19 | PMID 12748057

Oviduct-Specific Glycoprotein Modulates Sperm-Zona Binding and Improves Efficiency of Porcine Fertilization In Vitro1

2003-09-01 | PMID 12748122

Epigenetic Characteristics and Development of Embryos Cloned from Donor Cells Treated by Trichostatin A or 5-aza-2′-deoxycytidine1

2003-09-01 | PMID 12748129

Development of acquired immunity to Salmonella

2003-05-15 | PMID 12748263

Two Distinct Phosphorylation Pathways Have Additive Effects on Abl Family Kinase Activation

2003-05-14 | PMID 12748290

PIM3 Proto-Oncogene Kinase Is a Common Transcriptional Target of Divergent EWS/ETS Oncoproteins

2003-05-14 | PMID 12748291

SARS-associated coronavirus.

The New England journal of medicine | 2003-05-15 | PMID 12748314

Holmes Kathryn V

Genebanks: A Comparison of Eight Proposed International Genetic Databases

2003-01-01 | PMID 12748437

Control of osteoblast function and regulation of bone mass

2003-05-01 | PMID 12748654

No evidence of Wolbachia endosymbiosis with Loa loa and Mansonella perstans

2003-08-01 | PMID 12748849

A strategy for the comparative analysis of serum proteomes for the discovery of biomarkers for hepatocellular carcinoma

2003-05-01 | PMID 12748940

Cellular and extracellular proteome analysis of <b><i>Streptococcus mutans</i></b> grown in a chemostat

2003-05-01 | PMID 12748943

Modulation of gene expression by extracellular pH variations in human fibroblasts: A transcriptomic and proteomic study

2003-05-01 | PMID 12748947

Genetic and clinical characterization of patients with an interstitial duplication 15q11‐q13, emphasizing behavioral phenotype and response to treatment

2003-01-17 | PMID 12749048

Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients

2003-04-01 | PMID 12749056

High exogenous homocysteine modifies eye development in early chick embryos

2003-01-01 | PMID 12749382

Role of reactive oxygen species in the pathophysiology of human reproduction

2003-04-01 | PMID 12749418

Meiotic behavior of the sex chromosomes in a 45,X/46,X,r(Y)/46,x,dic r(Y) patient whose semen was assessed by fluorescence in situ hybridization

2003-04-01 | PMID 12749430

Race and medical publications.

Journal of the National Medical Association | 2003-04-01 | PMID 12749622

Hurley Brian W

Analysis of Structure and Function of Putative Surface-Exposed Proteins Encoded in the<i>Streptococcus pneumoniae</i>Genome: A Bioinformatics-Based Approach to Vaccine and Drug Design

2003-01-01 | PMID 12749697

Disease-associated dendritic cells respond to disease-specific antigens through the common heat shock protein receptor

2003-05-20 | PMID 12750160

Inhibition of bcr-abl gene expression by small interfering RNA sensitizes for imatinib mesylate (STI571)

2003-05-20 | PMID 12750174

High-penetrance mouse model of acute promyelocytic leukemia with very low levels of PML-RARα expression

2003-05-20 | PMID 12750176

C. C. Tan: a life of peaks and valleys.

Genetics | 2003-05-01 | PMID 12750315

Crow James F

Mechanosensory Inputs Influence Caenorhabditis elegans Pharyngeal Activity via Ivermectin Sensitivity Genes

2003-05-01 | PMID 12750328

The Cell Cycle-regulated Protein Human GTSE-1 Controls DNA Damage-induced Apoptosis by Affecting p53 Function

2003-08-01 | PMID 12750368

Tumor Suppressor p53 and Its Homologue p73α Affect Cell Migration

2003-07-01 | PMID 12750388

A matter of life and death: cardiac myocyte apoptosis and regeneration

2003-05-15 | PMID 12750394

A mechanistic role for cardiac myocyte apoptosis in heart failure

2003-05-15 | PMID 12750399

Beta cell MHC class I is a late requirement for diabetes

2003-05-15 | PMID 12750472

Hypermutation of HIV-1 DNA in the absence of the Vif protein.

Science (New York, N.Y.) | 2003-05-16 | PMID 12750511

Lecossier Denise, Bouchonnet Francine, Clavel François and 1 more

Role of the Retinoblastoma Protein in Differentiation and Senescence

2003-03-01 | PMID 12750549

Resistance of Philadelphia-chromosome positive leukemia towards the kinase inhibitor imatinib (STI571, Glivec): a targeted oncoprotein strikes back

2003-05-01 | PMID 12750693

Aberrant methylation and impaired expression of the p15INK4b cell cycle regulatory gene in chronic myelomonocytic leukemia (CMML)

2003-05-01 | PMID 12750705

Mesenchymal stem cell: use and perspectives

2003-01-01 | PMID 12750726

Familial mediterranean fever: revisiting an ancient disease

2003-05-16 | PMID 12751000

Birt-Hogg-Dubé syndrome.

Dermatology nursing | 2003-04-01 | PMID 12751355

Musse Laura

LTC4 production by eosinophils in asthmatic subjects with alternative forms of ALOX-5 core promoter.

Advances in experimental medicine and biology | 2003-01-01 | PMID 12751728

Kalayci Omer, Wechsler Michael, Galper Ben and 4 more

Splicing mutation of the prostacyclin synthase gene in a family associated with hypertension.

Advances in experimental medicine and biology | 2003-01-01 | PMID 12751759

Nakayama Tomohiro, Soma Masayoshi, Watanabe Yoshiyasu and 5 more

A review of immune cells and molecules in women with recurrent miscarriage

2003-03-01 | PMID 12751778

Pathophysiology of increased nuchal translucency: a review of the literature

2003-03-01 | PMID 12751779

Cytogenetic abnormalities in childhood acute myeloid leukaemia: a Nordic series comprising all children enrolled in the NOPHO‐93‐AML trial between 1993 and 2001

2003-05-01 | PMID 12752097

Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome

2003-04-01 | PMID 12752120

Multiple unilateral schwannomas: segmental neurofibromatosis type 2 or schwannomatosis?

2003-04-01 | PMID 12752143

Pemphigus foliaceus in an 11-year-old boy with dermatomyositis: simple coincidence or familial immunological background?

The British journal of dermatology | 2003-04-01 | PMID 12752161

Narbutt J, Torzecka J D, Sysa-Jedrzejowska A and 1 more

Epidemiology of gonadal germ cell cancer in males and females

2003-01-01 | PMID 12752232

Polymorphic DAZ gene family in polymorphic structure of AZFc locus: Artwork or functional for human spermatogenesis?

2003-01-01 | PMID 12752250

COMMENTS

2003-01-01 | PMID 12752256

Role of gain of 12p in germ cell tumour development

2003-01-01 | PMID 12752258

Growth regulatory factors and signalling proteins in testicular germ cell tumours

2003-01-01 | PMID 12752264

Human tissue kallikreins and testicular cancer

2003-01-01 | PMID 12752266

Current views on the pathogenesis of testicular germ cell tumours and perspectives for future research: Highlights of the 5th Copenhagen Workshop on Carcinoma in situ and Cancer of the Testis

2003-01-01 | PMID 12752274

Familial influences on adolescent smoking

2003-05-01 | PMID 12752359

Interactions between M proteins of <i>Streptococcus pyogenes</i> and glycosaminoglycans promote bacterial adhesion to host cells

2003-04-28 | PMID 12752450

Atypical medullary breast carcinoma in a family carrying the 5382insC BRCA-1 mutation.

The breast journal | 2000-01-01 | PMID 12752644

Kroupis Christos, Lianidou Evriklia, Goutas Nikos and 7 more

Neutrophil apoptosis pathways and their modifications in inflammation

2003-05-12 | PMID 12752675

Ikaros, Aiolos and Helios: Transcription regulators and lymphoid malignancies

2003-05-20 | PMID 12752680

Interaction of flaviviruses with cells of the vertebrate host and decoy of the immune response

2003-05-20 | PMID 12752685

MHC class I up‐regulation by flaviviruses: Immune interaction with unknown advantage to host or pathogen

2003-05-20 | PMID 12752686

A DM domain protein from a coral, <i>Acropora millepora</i>, homologous to proteins important for sex determination

2003-04-28 | PMID 12752764

Variation of tooth number in mammalian dentition: connecting genetics, development, and evolution

2003-04-28 | PMID 12752768

Taxonomic positioning of two biological control agents for plant diseases as Lysobacter enzymogenes based on phylogenetic analysis of 16S rDNA, fatty acid composition and phenotypic characteristics

2003-05-13 | PMID 12752818

Medicinal genetics approach towards identifying the molecular target of a novel inhibitor of fungal cell wall assembly

2003-05-01 | PMID 12753194

SarA and not σ ^B is essential for biofilm development by <i>Staphylococcus aureus</i>

2003-05-01 | PMID 12753197

Dual regulation by phospho‐OmpR of ssrA/B gene expression in Salmonella pathogenicity island 2

2003-05-01 | PMID 12753201

Molecular phylogeography of the Amazonian Chagas disease vectors <i>Rhodnius prolixus and R. robustus</i>

2003-03-28 | PMID 12753218

Mutation analysis and clinical implications of von Willebrand factor–cleaving protease deficiency

2003-05-14 | PMID 12753286

Cell senescence in rat kidneys in vivo increases with growth and age despite lack of telomere shortening

2003-05-14 | PMID 12753300

A novel HIV-1 transgenic rat model of childhood HIV-1–associated nephropathy

2003-05-14 | PMID 12753314

Effect of Iron Treatment on Nickel Absorption and Gene Expression of the Divalent Metal Transporter (DMT1) by Human Intestinal Caco‐2 Cells

2003-03-01 | PMID 12753426

Distribution of <i>Actinobacillus actinomycetemcomitans</i> serotypes and <i>Porphyromonas gingivalis</i> in Japanese adults

2003-05-12 | PMID 12753462

Short interfering RNA‐directed inhibition of hepatitis B virus replication

2003-04-24 | PMID 12753904

The <i>Drosophila</i> homolog of Aut1 is essential for autophagy and development

2003-04-30 | PMID 12753924