Biomedical publications with connected research

Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C.

Journal of medical genetics | 2003-11-01 | PMID 14627682

Shen J J, Brown C A, Lupski J R and 1 more

Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism.

Journal of medical genetics | 2003-11-01 | PMID 14627686

Serajee F J, Nabi R, Zhong H and 1 more

Genes: INPP1, TSC2

Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families.

Journal of medical genetics | 2003-11-01 | PMID 14627687

Planté-Bordeneuve V, Carayol J, Ferreira A and 5 more

Chinese patients with sporadic Hirschsprung's disease are predominantly represented by a single RET haplotype.

Journal of medical genetics | 2003-11-01 | PMID 14627689

Garcia-Barceló M-M, Sham M-H, Lui V C-H and 6 more

Genes: RET

Diagnosis of gene dosage alterations at the PMP22 gene using MAPH.

Journal of medical genetics | 2003-11-01 | PMID 14627690

Akrami S M, Rowland J S, Taylor G R and 1 more

Genes: PMP22

A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract

2003-11-01 | PMID 14627691

Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load.

Journal of medical genetics | 2003-11-01 | PMID 14627692

Wong L-J C, Perng C-L, Hsu C-H and 5 more

Identification of eight novel NSD1 mutations in Sotos syndrome.

Journal of medical genetics | 2003-11-01 | PMID 14627693

Kamimura J, Endo Y, Kurotaki N and 22 more

Genes: NSD1

Analysis of the Plasmodium and Anopheles Transcriptomes during Oocyst Differentiation

2004-02-01 | PMID 14627711

<i>Phox2b</i>controls the development of peripheral chemoreceptors and afferent visceral pathways

2003-11-25 | PMID 14627719

Functional characterization of Helicobacter pylori DnaB helicase

2003-11-19 | PMID 14627816

Gene expression profiling of normal human pulmonary fibroblasts following coculture with non-small-cell lung cancer cells reveals alterations related to matrix degradation, angiogenesis, cell growth and survival

2003-11-20 | PMID 14627989

Prevalence and clinical impact of Met Y1253D-activating point mutation in radiotherapy-treated squamous cell cancer of the oropharynx

2003-11-20 | PMID 14627992

NOD/SCID mice engineered to express human IL-3, GM-CSF and Steel factor constitutively mobilize engrafted human progenitors and compromise human stem cell regeneration

2003-11-20 | PMID 14628073

High yield preparation of genomic DNA from Streptomyces

2003-11-01 | PMID 14628665

Zebrafish sperm cryopreservation with N,N-dimethylacetamide

2003-11-01 | PMID 14628669

Variation in Toll-like receptor 4 and susceptibility to group A meningococcal meningitis in Gambian children.

The Pediatric infectious disease journal | 2003-11-01 | PMID 14628773

Allen Angela, Obaro Stephen, Bojang Kalifa and 5 more

SHORT REPORT: QUANTIFICATION OF LEISHMANIAVIRUS RNA IN CLINICAL SAMPLES AND ITS POSSIBLE ROLE IN PATHOGENESIS

2003-09-01 | PMID 14628949

APONOMMA HYDROSAURI, THE REPTILE-ASSOCIATED TICK RESERVOIR OF RICKETTSIA HONEI ON FLINDERS ISLAND, AUSTRALIA

2003-09-01 | PMID 14628950

COPRO-DIAGNOSIS OF ECHINOCOCCUS GRANULOSUS INFECTION IN DOGS BY AMPLIFICATION OF A NEWLY IDENTIFIED REPEATED DNA SEQUENCE

2003-09-01 | PMID 14628952

Deconstructing psychiatric disorders, Part 1. Genotypes, symptom phenotypes, and endophenotypes.

The Journal of clinical psychiatry | 2003-09-01 | PMID 14628971

Stahl Stephen M

Cytokines, implantation and early abortion: re‐examining the Th1/Th2 paradigm leads to question the single pathway, single therapy concept

2003-08-11 | PMID 14629021

Placental Trophoblast from Successful Human Pregnancies Expresses the Tolerance Signaling Molecule, CD200 (OX‐2)*

2003-08-11 | PMID 14629022

Phylogeography of the fungal pathogen<i>Histoplasma capsulatum</i>

2003-10-31 | PMID 14629354

Desbuquois syndrome: Clinical and radiological report of the first two Chinese cases from a consanguineous family

2003-11-24 | PMID 14629506

Gunsalus and Stanier set the stage for selection of cold-sensitive mutants apparently impaired in movement of FAD within 4-hydroxybenzoate hydroxylase.

Biochemical and biophysical research communications | 2003-12-05 | PMID 14630034

Young David M, D'Argenio David A, Jen Melinda and 2 more

Negative regulation of cytokine signaling influences inflammation

2003-10-11 | PMID 14630206

Tox/Path team takes on differential gene expression.

Environmental health perspectives | 2003-11-01 | PMID 14630520

Cunningham Michael L, Irwin Richard, Boorman Gary

Different Diabetogenic Response to Moderate Doses of Streptozotocin in Pregnant Rats, and Its Long‐TermConsequences in the Offspring

2003-01-01 | PMID 14630572

Invited commentary: making the most of genotype asymmetries.

American journal of epidemiology | 2003-12-01 | PMID 14630597

Weinberg Clarice

Expression of Interleukin-5– and Granulocyte Macrophage–Colony-Stimulating Factor–Responsive Genes in Blood and Airway Eosinophils

2003-11-24 | PMID 14630612

Gene expression profile of omental adipose tissue in human obesity

2003-11-20 | PMID 14630696

The thrifty phenotype hypothesis and hearing problems.

BMJ (Clinical research ed.) | 2003-11-22 | PMID 14630755

Barrenäs Marie-Louise, Bratthall Asa, Dahlgren Jovanna

Characterization of clonogenic multiple myeloma cells

2003-11-25 | PMID 14630803

Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R)

2003-11-24 | PMID 14630809

Impaired bone marrow homing of cytokine-activated CD34+ cells in the NOD/SCID model

2003-11-25 | PMID 14630817

Alternative promoters regulate transcription of the gene that encodes stem cell surface protein AC133

2003-11-25 | PMID 14630820

Serum deprivation of human marrow stromal cells (hMSCs) selects for a subpopulation of early progenitor cells with enhanced expression of OCT-4 and other embryonic genes

2003-11-25 | PMID 14630823

Mutations of the PML tumor suppressor gene in acute promyelocytic leukemia

2003-11-25 | PMID 14630830

Aging and kyphosis.

The journals of gerontology. Series A, Biological sciences and medical sciences | 2003-11-01 | PMID 14630874

Gerhard Glenn S, Kasales Claudia J

Accelerated bone aging in the trichothiodystrophy mouse model.

The journals of gerontology. Series A, Biological sciences and medical sciences | 2003-11-01 | PMID 14630875

Diderich Karin E M, Hoeijmakers Jan H J, van Leeuwen Johannes P T M

Role of Apoptosis in Sarcopenia

2003-11-01 | PMID 14630880

An Immunodominant Epitope of Myelin Basic Protein Is an Amphipathic α-Helix

2004-02-01 | PMID 14630913

Regulation of the human GLUT4 gene promoter: Interaction between a transcriptional activator and myocyte enhancer factor 2A

2003-11-20 | PMID 14630949

Apical recycling systems regulate directional budding of respiratory syncytial virus from polarized epithelial cells

2003-11-20 | PMID 14630951

Telomerase Activity and Telomere Length in Primary and Metastatic Tumors from Pediatric Bone Cancer Patients

2003-11-25 | PMID 14630995

Steroids and Oocyte Maturation—A New Look at an Old Story

2003-11-25 | PMID 14630999

SARS Virus: The Beginning of the Unraveling of a New Coronavirus

2003-01-01 | PMID 14631105

Developmental genetics of the female reproductive tract in mammals

2003-11-20 | PMID 14631357

Does race exist?

Scientific American | 2003-12-01 | PMID 14631734

Bamshad Michael J, Olson Steve E

The unseen genome: beyond DNA.

Scientific American | 2003-12-01 | PMID 14631738

Gibbs W Wayt

[Mechanism of response to sugar-signals in plants].

Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme | 2003-11-01 | PMID 14631775

Tsukagoshi Hironaka, Nakamura Kenzo

Catalysis and specificity in enzymes: a study of triosephosphate isomerase and comparison with methyl glyoxal synthase.

Advances in protein chemistry | 2003-01-01 | PMID 14631822

Cui Qiang, Karplus Martin

Targeted conditional somatic mutagenesis in the mouse: temporally-controlled knock out of retinoid receptors in epidermal keratinocytes.

Methods in enzymology | 2003-01-01 | PMID 14631857

Metzger Daniel, Indra Arup Kumar, Li Mei and 4 more

Methods to characterize Drosophila nuclear receptor activation and function in vivo.

Methods in enzymology | 2003-01-01 | PMID 14631862

Kozlova Tatiana, Thummel Carl S

Overview on chemotaxis and acid resistance in Helicobacter pylori

2003-01-01 | PMID 14631875

Biologic lessons from mutations in the Kreb's cycle enzyme, fumarate hydratase.

The Journal of investigative dermatology | 2003-10-01 | PMID 14632173

McGrath John A

Targeted Inactivation of Murine Laminin γ2-Chain Gene Recapitulates Human Junctional Epidermolysis Bullosa

2003-09-26 | PMID 14632187

Germline Fumarate Hydratase Mutations in Families with Multiple Cutaneous and Uterine Leiomyomata

2003-09-26 | PMID 14632190

Effects of nutrient availability on primary sexual traits and their response to selection in Spergularia marina (Caryophyllaceae).

Journal of evolutionary biology | 2003-07-01 | PMID 14632239

Mazer S J, Lowry D E, Hansen T

Expression of Hoxb‐5 during human lung development and in congenital lung malformations

2003-08-01 | PMID 14632303

Chorionic villus sampling: A distinctive teratogenic effect on fingers?

2003-07-24 | PMID 14632304

Diverse range of fixed positional deformities and bone growth restraint provoked by flaccid paralysis in embryonic chicks

2003-08-01 | PMID 14632633

Inverse regulation of the ADAM‐family members, decysin and MADDAM/ADAM19 during monocyte differentiation

2003-11-24 | PMID 14632642

Abnormalities in the T and NK lymphocyte phenotype in patients with Nijmegen breakage syndrome

2003-10-03 | PMID 14632755

Determination of the breakpoint and molecular diagnosis of a common α‐thalassaemia‐1 deletion in the Indian population

2003-11-19 | PMID 14632787

Comparison of multitarget fluorescence in situ hybridization in urine with other noninvasive tests for detecting bladder cancer

2003-11-24 | PMID 14632845

Characterization of the Mucor circinelloides life cycle by on-line image analysis

2003-10-16 | PMID 14633045

DNA oligonucleotide microarray technology identifies fisp-12 among other potential fibrogenic genes following murine unilateral ureteral obstruction (UUO): Modulation during epithelial-mesenchymal transition

2003-11-07 | PMID 14633130

Linkage of erm (B) and aadE-sat4-aphA-3 in Multiple-Resistant Enterococcus faecium Isolates of Different Ecological Origins

2003-10-01 | PMID 14633362

Adeno-Associated Virus Type 5: Transduction Efficiency and Cell-Type Specificity in the Primate Retina

2003-11-10 | PMID 14633408

Protective Immunity Evoked Against Anthrax Lethal Toxin After a Single Intramuscular Administration of an Adenovirus-Based Vaccine Encoding Humanized Protective Antigen

2003-11-10 | PMID 14633409

Hedgehog Signaling Regulates Sebaceous Gland Development

2003-12-01 | PMID 14633591

Gene Expression Profiling of Alcoholic Liver Disease in the Baboon (Papio hamadryas) and Human Liver

2003-12-01 | PMID 14633604

Ontogenetic Transition in Fetal Wound Transforming Growth Factor-β Regulation Correlates with Collagen Organization

2003-12-01 | PMID 14633618

Identical Allelic Losses in Mature Teratoma and Other Histologic Components of Malignant Mixed Germ Cell Tumors of the Testis

2003-12-01 | PMID 14633619

Transfer of the Active Form of Transforming Growth Factor-β1 Gene to Newborn Rat Lung Induces Changes Consistent with Bronchopulmonary Dysplasia

2003-12-01 | PMID 14633629

Expression of PEA3/E1AF/ETV4, an Ets-related transcription factor, in breast tumors: positive links to MMP2, NRG1 and CGB expression

2003-12-04 | PMID 14633660

Iron Deficiency and Overload

2003-01-01 | PMID 14633776

Acute Myeloid Leukemia and Acute Promyelocytic Leukemia

2003-01-01 | PMID 14633778

Pediatric Acute Lymphoblastic Leukemia

2003-01-01 | PMID 14633779

New Developments in Allotransplant Immunology

2003-01-01 | PMID 14633790

Realistic Prospects for Stem Cell Therapeutics

2003-01-01 | PMID 14633792

Agouti Expression in Human Adipose Tissue

2003-12-01 | PMID 14633851

Regulation of Apolipoprotein M Gene Expression by MODY3 Gene Hepatocyte Nuclear Factor-1α

2003-12-01 | PMID 14633861

Haplotype Structure of the UDP-Glucuronosyltransferase 1A1 (UGT1A1) Gene and Its Relationship to Serum Total Bilirubin Concentration in a Male Korean Population

2003-12-01 | PMID 14633881

Genetic Effects on Baseline Values of C-Reactive Protein and Serum Amyloid A Protein: A Comparison of Monozygotic and Dizygotic Twins

2004-01-01 | PMID 14633907

Large T antigen on the simian virus 40 origin of replication: a 3D snapshot prior to DNA replication

2003-11-21 | PMID 14633980

Osteocyte control of bone formation via sclerostin, a novel BMP antagonist

2003-11-21 | PMID 14633986

Developmental Expression of Human Hepatic CYP2C9 and CYP2C19

2004-02-25 | PMID 14634042

Gene-expression profiling of CD34+ cells from various hematopoietic stem-cell sources reveals functional differences in stem-cell activity

2003-11-21 | PMID 14634063

Human ErbB-2 (Her-2) Transgenic Mice: A Model System for Testing Her-2 Based Vaccines

2003-12-01 | PMID 14634087

IL-4 and IL-13 Induce SOCS-1 Gene Expression in A549 Cells by Three Functional STAT6-Binding Motifs Located Upstream of the Transcription Initiation Site

2003-12-01 | PMID 14634100

Molecular Cloning and Immunologic Characterization of a Novel cDNA Coding for Progesterone-Induced Blocking Factor

2003-12-01 | PMID 14634107

Placental Cell Expression of HLA-G2 Isoforms Is Limited to the Invasive Trophoblast Phenotype

2003-12-01 | PMID 14634138

The Bcl-2 family: roles in cell survival and oncogenesis

2003-11-24 | PMID 14634621

Regulation of apoptosis by endoplasmic reticulum pathways

2003-11-24 | PMID 14634622

Expression of exogenous genes in Trypanosoma cruzi : improving vectors and electroporation protocols

2004-01-01 | PMID 14634799

Genetic analysis of group B human rotaviruses detected in Bangladesh in 2000 and 2001

2003-11-17 | PMID 14635024

Distribution of TT virus genomic groups 1–5 in Brazilian blood donors, HBV carriers, and HIV‐1‐infected patients

2003-11-17 | PMID 14635027