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Molecular characterization of FRAXB and comparative common fragile site instability in cancer cells
GENES CHROMOSOMES & CANCER
Comparative genomic hybridization detects an increased number of chromosomal alterations in large cell/anaplastic medulloblastomas
BRAIN PATHOLOGY
Suppression of gamma ray-induced illegitimate recombination in Escherichiacoli by the DNA binding protein H-NS
MOLECULAR GENETICS AND GENOMICS
Strategies for the infertile man
SEMINARS IN REPRODUCTIVE MEDICINE
Heteroduplex formation in SMN gene dosage analysis
JOURNAL OF MOLECULAR DIAGNOSTICS
A method to compensate for different amplification efficiencies
JOURNAL OF MOLECULAR DIAGNOSTICS
Novel DNA copy number losses in chromosome 12q12-q13 in adenoid cystic carcinoma
NEOPLASIA
Familial/bilateral and sporadic testicular germ cell tumors show frequent genetic changes at loci with suggestive linkage evidence
NEOPLASIA
Myeloproliferative disorders
BEST PRACTICE & RESEARCH CLINICAL HAEMATOLOGY
Bias in the introduction of variation as an orienting factor in evolution
EVOLUTION & DEVELOPMENT
Animal models for respiratory chain disease
TRENDS IN MOLECULAR MEDICINE
Complex layers of genetic alteration in the generation of antibody diversity
TRENDS IN IMMUNOLOGY
Allelic loss on chromosome band 18p11.3 occurs early and reveals heterogeneity in breast cancer progression
BREAST CANCER RESEARCH
Analysis for microdeletions of Y chromosome in a single spermatozoon from a man with severe oligozoospermia
JOURNAL OF HUMAN GENETICS
The N-terminal part of recombinant human tear lipocalin/von Ebner's gland protein confers cysteine proteinase inhibition depending on the presence ofthe entire cystatin-like sequence motifs
BIOLOGICAL CHEMISTRY
Identification of genetic alterations in the TGF beta type II receptor gene promoter
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
Stationary phase deletions in Escherichia coli I - Evidence for a new deletion pathway
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
Stationary phase deletions in Escherichia coli - II. Mutations which stimulate stationary phase deletions in plasmid pMC874
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
Identification of a deletion hotspot on distal mouse chromosome 4 by YAC fingerprinting
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
Molecular characterisation of camptothecin-induced mutations at the hprt locus in Chinese hamster cells
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
Mitochondrial DNA in aging and degenerative disease
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
Different characteristics distinguish early versus late arising adaptive mutations in Escherichia coli FC40
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
Frequency of CD59 mutations induced in human-hamster hybrid A(L) cells by low-dose X-irradiation
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
Accumulation of mitochondrial DNA deletions in human oral tissues - effects of betel quid chewing and oral cancer
MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS
Selective deletion of p14(ARF) exon 1 beta of the INK4a locus in oral squamous cell carcinomas of Indians
ORAL ONCOLOGY
Characterization of the genomic organization, localization and expression of four PRY genes (PRY1, PRY2, PRY3 and PRY4)
MOLECULAR HUMAN REPRODUCTION
Mitochondrial DNA content affects the fertilizability of human oocytes
MOLECULAR HUMAN REPRODUCTION
Single cell multiplex PCR amplification of five dystrophin gene exons combined with gender determination
MOLECULAR HUMAN REPRODUCTION
High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome
MOLECULAR HUMAN REPRODUCTION
Men with oligoasthenoteratazoospermia harbour higher numbers of multiple mitochondrial DNA deletions in their spermatozoa, but individual deletions are not indicative of overall aetiology
MOLECULAR HUMAN REPRODUCTION
Polymorphism in SNAP29 gene promoter region associated with schizophrenia
MOLECULAR PSYCHIATRY
Tumour suppressor activity of human imprinted gene PEG3 in a glioma cell line
GENES TO CELLS
The varicocele dilemma
HUMAN REPRODUCTION UPDATE
The parkin gene S/N167 polymorphism in Australian Parkinson's disease patients and controls
PARKINSONISM & RELATED DISORDERS
A long distance-PCR derived FISH probe detects a deletion between p15 and p16 in CML and T-ALL patients
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
Chromosome 22q11 microdeletion in conotruncal heart defects: Clinical presentation, parental origin and de novo mutations
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
Fine mapping of the PTGFR gene to 1p31 region and mutation analysis in human breast cancer
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
Recognition of mitochondrial DNA deletion syndrome with non-neuromuscular multisystemic manifestation
GENETICS IN MEDICINE
Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes
GENETICS IN MEDICINE
Presence of a major WFS1 mutation in Spanish wolfram syndrome pedigrees
MOLECULAR GENETICS AND METABOLISM
Tyrosinemia: A review
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
Universal newborn screening for Hb H disease in California
GENETIC TESTING
Two function copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus
GENOME RESEARCH
The DiGeorge anomaly
CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY
Subtelomeric chromosome rearrangements are detected using an innovative 12-color FISH assay (M-TEL)
NATURE MEDICINE
Comprehensive allelotyping of human intrahepatic cholangiocarcinoma
CLINICAL CANCER RESEARCH
Diagnostic strategy for analytical scanning of BRCA1 gene by fluorescence-assisted mismatch analysis using large, bifluorescently labeled amplicons
CLINICAL CANCER RESEARCH
Altered subcellular localization of suppressin, a novel inhibitor of cell-cycle entry, is an independent prognostic factor in colorectal adenocarcinomas
CLINICAL CANCER RESEARCH
The other human genome
ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE
Expression profiling of medulloblastoma: PDGFRA and the RAS/MAPK pathway as therapeutic targets for metastatic disease
NATURE GENETICS
DellBank: a mouse ES-cell resource for generating deletions
NATURE GENETICS
A helicase is born
NATURE GENETICS
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
NATURE GENETICS
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene LF-like protein localized in mitochondria
NATURE GENETICS
Human cells are protected from mitochondrial dysfunction by complementation of DNA products in fused mitochondria
NATURE GENETICS
Maternal methylation imprints on human chromosome 15 are established during or after fertilization
NATURE GENETICS
A new technique for cyclic in situ amplification and a case report about amplification of a single copy gene sequence in human metaphase chromosome through PCR-PRINS
HUMAN MUTATION
DAZLA: An important candidate gene in male subfertility?
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
Multiplex PCR for screening of microdeletions on the Y chromosome
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
Detection of homologous recombination among bacteriophage P2 relatives
MOLECULAR PHYLOGENETICS AND EVOLUTION
Highly polymorphic short tandem repeat analyses clarify complex molecular test results
DIAGNOSTIC MOLECULAR PATHOLOGY
Sporadic multiple primary melanoma cases: CDKN2A germline mutations with afounder effect
GENES CHROMOSOMES & CANCER
Chromosome 21 abnormalities with AMLI amplification in acute lymphoblasticleukemia
GENES CHROMOSOMES & CANCER
Loss of chromosome arms 3p and 9p and inactivation of P16 (INK4a) in normal epithelium of patients with primary lung cancer
GENES CHROMOSOMES & CANCER
Analysis of loss of heterozygosity in lymphoma and leukaemia arising in F1hybrid mice locates a common region of chromosome 4 loss
GENES CHROMOSOMES & CANCER
Molecular cytogenetic characterization of early and late renal cell carcinomas in Von Hippel-Lindau disease
GENES CHROMOSOMES & CANCER
Translocation breakpoints in FHIT and FRA3B in both homologs of chromosome3 in an esophageal adenocarcinoma
GENES CHROMOSOMES & CANCER
Chromosomal alterations in squamous cell carcinomas of the head and neck: Window to the biology of disease
HEAD AND NECK-JOURNAL FOR THE SCIENCES AND SPECIALTIES OF THE HEAD AND NECK
PPP2R1B gene in chronic lymphocytic leukemias and mantle cell lymphomas
LEUKEMIA & LYMPHOMA
Secondary chromosome changes in mantle cell lymphoma: Cytogenetic and fluorescence in situ hybridization studies
LEUKEMIA & LYMPHOMA
Deletions within the Epstein-Barr virus latent membrane protein-1 oncogenein adult ordinary, HIV-associated and paediatric Hodgkin's disease
LEUKEMIA & LYMPHOMA
11q deletions in hematological malignancies
LEUKEMIA & LYMPHOMA
22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes
CURRENT OPINION IN PEDIATRICS
The transcription map of the 13q14 region frequently deleted in B-cell chronic lymphocytic leukemia
RUSSIAN JOURNAL OF GENETICS
The evolutionarily conserved CKAP2 gene is located in human region 13q14.3often rearranged in various tumors
RUSSIAN JOURNAL OF GENETICS
Mutational analysis of the PTEN/MMAC1 tumour suppressor gene in primary human malignant mesotheliomas
ONCOLOGY REPORTS
Microsatellite alterations in patients with thoracic sarcoma
ONCOLOGY REPORTS
Allelic imbalance and microsatellite instability in BRCA1 associated breast and ovarian tumors
INTERNATIONAL JOURNAL OF ONCOLOGY
Genomic organization and chromosomal mapping of SPARC-like 1, a gene down regulated in cancers
INTERNATIONAL JOURNAL OF ONCOLOGY
Best practice guidelines for molecular analysis in spinal muscular atrophy
EUROPEAN JOURNAL OF HUMAN GENETICS
Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15
EUROPEAN JOURNAL OF HUMAN GENETICS
A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation
EUROPEAN JOURNAL OF HUMAN GENETICS
Correlation between genotype and phenotype in Korean patients with spinal muscular atrophy
MOLECULES AND CELLS
Terminal 6q25.3 deletion and abnormal behaviour
GENETIC COUNSELING
Combined trisomy 9p and Shprintzen syndrome resulting from a paternal t(9;22)
GENETIC COUNSELING
Spinal muscular atrophy: Present state
BRAIN PATHOLOGY
Is intracytoplasmic sperm injection itself an indication to perform preimplantation genetic diagnosis (PGD)? About PGD, invasive prenatal diagnosis and genetic sonography
FETAL DIAGNOSIS AND THERAPY
Properties of Manduca sexta chitinase and its C-terminal deletions
INSECT BIOCHEMISTRY AND MOLECULAR BIOLOGY
Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome region
HUMAN MOLECULAR GENETICS
Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome
HUMAN MOLECULAR GENETICS
A translocation breakpoint cluster disrupts the newly defined 3 ' end of the SNURF-SNRPN transcription unit on chromosome 15
HUMAN MOLECULAR GENETICS
Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments
HUMAN MOLECULAR GENETICS
The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A
HUMAN MOLECULAR GENETICS
Nuclear genetic defects of oxidative phosphorylation
HUMAN MOLECULAR GENETICS
Mouse models for the Wolf-Hirschhorn deletion syndrome
HUMAN MOLECULAR GENETICS
The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism
HUMAN MOLECULAR GENETICS
Recombination hotspot in NF1 microdeletion patients
HUMAN MOLECULAR GENETICS
Quantification and sequencing of somatic deleted mtDNA in single cells: evidence for partially duplicated mtDNA in aged human tissues
HUMAN MOLECULAR GENETICS
Transcription, beta-like DNA polymerases and hypermutation
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY OF LONDON SERIES B-BIOLOGICAL SCIENCES
ATP, phosphocreatine and lactate in exercising muscle in mitochondrial disease and McArdle's disease
NEUROMUSCULAR DISORDERS