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Improved definition of chromosomal breakpoints using high-resolution multicolour banding
HUMAN GENETICS
Short stature homeobox-containing gene deletion screening by fluorescence in situ hybridisation in patients with short stature
EUROPEAN JOURNAL OF PEDIATRICS
Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostics
CYTOGENETICS AND CELL GENETICS
High frequency of spontaneous translocations revealed by FISH in cells from patients with the cancer-prone syndromes ataxia telangiectasia and Nijmegen breakage syndrome
CYTOGENETICS AND CELL GENETICS
Intercellular distribution of aberrations detected by means of chromosome painting in cells of patients with cancer prone chromosome instability syndromes
EXPERIMENTAL ONCOLOGY
In vivo angiogenesis in normal and portal hypertensive rats: role of basicfibroblast growth factor and nitric oxide
JOURNAL OF HEPATOLOGY
Preferential inactivation of a dupX(q23 -> q27-28) chromosome in a girl with mental retardation and dysmorphy
HUMAN HEREDITY
Deletion of the DM-domain gene cluster in a fetus with ring chromosome 9 and sex reversal
PEDIATRIC PATHOLOGY & MOLECULAR MEDICINE
Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum
JOURNAL OF MOLECULAR MEDICINE-JMM
A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure
JOURNAL OF MOLECULAR MEDICINE-JMM
Female pseudohermaphroditism caused by caudal dysgenesis
CYTOGENETICS AND CELL GENETICS
Incidental prenatal detection of an Xp deletion using an anonymous primer pair for fetal sexing
PRENATAL DIAGNOSIS
A novel translocation (17;19)(p13;p13) in a patient with acute myelomonocytic leukemia
CANCER GENETICS AND CYTOGENETICS
Portal hypertension and angiogenesis
SCHWEIZERISCHE MEDIZINISCHE WOCHENSCHRIFT
Radiosensitivity in Nijmegen Breakage syndrome cells is attributable to a repair defect and not cell cycle checkpoint defects
CANCER RESEARCH
No evidence for a major role of heterozygous deletion 657del5 within the NBS1 gene in the pathogenesis of non-Hodgkin's lymphoma of childhood and adolescence
BRITISH JOURNAL OF HAEMATOLOGY
FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy
EUROPEAN JOURNAL OF HUMAN GENETICS
Impaired p53-mediated DNA damage response, cell-cycle disturbance and chromosome aberrations in Nijmegen breakage syndrome lymphoblastoid cell lines
INTERNATIONAL JOURNAL OF RADIATION BIOLOGY
The presynaptic cytomatrix protein bassoon: Sequence and chromosomal localization of the human BSN gene
GENOMICS
Computational RAM: Implementing processors in memory
IEEE DESIGN & TEST OF COMPUTERS
Molecular cytogenetic techniques for the diagnosis of chromosomal abnormalities in childhood disease
EUROPEAN JOURNAL OF PEDIATRICS
Mosaic tetrasomy 9p in a girl with multiple congenital anomalies: cytogenetic and molecular-cytogenetic studies
EUROPEAN JOURNAL OF PEDIATRICS
Trisomy 4p as result of a maternal translocation t(4;8) (q11;p23)
KLINISCHE PADIATRIE
Increased angiogenesis in portal hypertensive rats: Role of nitric oxide
HEPATOLOGY
Frequency of CFTR gene mutations in males participating in an ICSI programme
HUMAN REPRODUCTION
The differential expression of proinflammatory cytokines IL-6, IL-8 and TNF-alpha in renal cell carcinoma
ANTICANCER RESEARCH
Partial monosomy 2p as the single chromosomal anomaly in a case of renal metanephric adenoma
CANCER GENETICS AND CYTOGENETICS
Trisomy 8 mosaicism in a patient with tetraamelia
AMERICAN JOURNAL OF MEDICAL GENETICS
BASSOON, A NOVEL PRESYNAPTIC CYTOMATRIX PROTEIN, CONTAINS N-TERMINAL ZN2-FINGER MOTIFS AND A C-TERMINAL POLY-GLUTAMINE STRETCH()
European journal of neuroscience
Familial occurrence of a del(Xp-) chromosome: Pitfall in karyotype/phenotype correlation
AMERICAN JOURNAL OF MEDICAL GENETICS
NIBRIN, A NOVEL DNA DOUBLE-STRAND BREAK REPAIR PROTEIN, IS MUTATED INNIJMEGEN BREAKAGE SYNDROME
Cell
BASSOON, A NOVEL ZINC-FINGER CAG GLUTAMINE-REPEAT PROTEIN SELECTIVELYLOCALIZED AT THE ACTIVE ZONE OF PRESYNAPTIC NERVE-TERMINALS/
The Journal of cell biology
HFS - A PERFORMANCE-ORIENTED FLEXIBLE FILE SYSTEM BASED ON BUILDING-BLOCK COMPOSITIONS
ACM transactions on computer systems
X-RAY-INDUCED P53 ACCUMULATION, G1 S-BLOCK AND CHROMOSOMAL DAMAGE IN NIJMEGEN BREAKAGE SYNDROME CELLS/
European journal of cell biology
THE STRUCTURE AND CHROMOSOMAL LOCALIZATIO N OF THE HUMAN NEUROGRANIN GENE
Bioorganiceskaa himia
INCREASED RADIOSENSITIVITY IN ATAXIA-TELANGIECTASIA PATIENTS (A-T), A-T HETEROZYGOTES AND CANCER-PATIENTS
Radiology
ANALYTICAL PREDICTION OF PERFORMANCE FOR CACHE COHERENCE PROTOCOLS
I.E.E.E. transactions on computers
LINEAR AND EXTENDED LINEAR TRANSFORMATIONS FOR SHARED-MEMORY MULTIPROCESSORS
Computer journal
LINKAGE STUDIES EXCLUDE THE AT-V GENE(S) FROM THE TRANSLOCATION BREAKPOINTS IN AN AT-V PATIENT
Clinical genetics
NONCOMPLEMENTATION OF RADIATION-INDUCED CHROMOSOME-ABERRATIONS IN ATAXIA-TELANGIECTASIA ATAXIA-TELANGIECTASIA-VARIANT HETERODIKARYONS/
American journal of human genetics
THE GENE FOR THE ATAXIA-TELANGIECTASIA VARIANT, NIJMEGEN BREAKAGE SYNDROME, MAPS TO A 1-CM INTERVAL ON CHROMOSOME 8Q21
American journal of human genetics
A COMPARISON OF BLOCKING AND NONBLOCKING PACKET-SWITCHING TECHNIQUES IN HIERARCHICAL RING NETWORKS
IEICE transactions on information and systems
PARTIAL TRISOMY MONOSOMY 6Q IN FETAL CELLS AND CVS LONG-TERM CULTURE NOT PRESENT IN CVS SHORT-TERM CULTURE/
Prenatal diagnosis
HIERARCHICAL-CLUSTERING - A STRUCTURE FOR SCALABLE MULTIPROCESSOR OPERATING SYSTEM-DESIGN
Journal of supercomputing
SCALABLE CACHE CONSISTENCY FOR HIERARCHICALLY STRUCTURED MULTIPROCESSORS
Journal of supercomputing
DNA, FISH AND COMPLEMENTATION STUDIES IN ICF SYNDROME - DNA HYPOMETHYLATION OF REPETITIVE AND SINGLE-COPY LOCI AND EVIDENCE FOR A TRANS-ACTING FACTOR
Human genetics
THE ATAXIA-TELANGIECTASIA-VARIANT GENE-1 AND GENE-2 ARE DISTINCT FROMTHE ATAXIA-TELANGIECTASIA GENE ON CHROMOSOME-11Q23.1
American journal of human genetics
PERFORMANCE EVALUATION OF HIERARCHICAL RING-BASED SHARED-MEMORY MULTIPROCESSORS
I.E.E.E. transactions on computers
THE ALLOC STREAM FACILITY - A REDESIGN OF APPLICATION-LEVEL STREAM I O/
Computer