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THE HUMAN GENOME PROJECT AND THE ROLE OF GENETICS IN HEALTH-CARE
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
FETAL CELL DETECTION IN MATERNAL BLOOD - A MULTIPARAMETER STUDY IN 236 SAMPLES USING ERYTHROBLAST MORPHOLOGY, DAB AND HBF STAINING AND FISHANALYSIS
European journal of human genetics
ANALYSIS OF A DEVELOPMENTAL GENE DELETED IN PATIENTS WITH WOLF-HIRSCHHORN-SYNDROME
European journal of human genetics
WHSC1, A 90 KB SET DOMAIN-CONTAINING GENE, EXPRESSED IN EARLY DEVELOPMENT AND HOMOLOGOUS TO A DROSOPHILA DYSMORPHY GENE MAPS IN THE WOLF-HIRSCHHORN-SYNDROME CRITICAL REGION AND IS FUSED TO IGH IN T(4-14) MULTIPLE-MYELOMA
Human molecular genetics (Print)
FUNCTIONAL IMPLICATIONS OF THE SPECTRUM OF MUTATIONS FOUND IN 234 CASES WITH X-LINKED JUVENILE RETINOSCHISIS (XLRS)
Human molecular genetics (Print)
CLINICAL-DIAGNOSIS OF HETEROZYGOUS DYSTROPHIN GENE DELETIONS BY FLUORESCENCE IN-SITU HYBRIDIZATION
Neuromuscular disorders
CHARACTERIZATION OF SCML1, A NEW GENE IN XP22, WITH HOMOLOGY TO DEVELOPMENTAL POLYCOMB GENES
Genomics
2-COLOR IMMUNOCYTOCHEMICAL STAINING OF GAMMA (GAMMA) AND EPSILON (EPSILON) TYPE HEMOGLOBIN IN FETAL RED-CELLS
Prenatal diagnosis
PRENATAL-DIAGNOSIS OF TRISOMY-13 ON FETAL CELLS OBTAINED FROM MATERNAL BLOOD AFTER MINOR ENRICHMENT
Prenatal diagnosis
DEVELOPMENT OF A PREPARATION AND STAINING METHOD FOR FETAL ERYTHROBLASTS IN MATERNAL BLOOD - SIMULTANEOUS IMMUNOCYTOCHEMICAL STAINING AND FISH ANALYSIS
Cytometry
FETAL CELL DETECTION IN MATERNAL BLOOD - A STUDY IN 236 SAMPLES USINGERYTHROBLAST MORPHOLOGY, DAB AND HBF STAINING, AND FISH ANALYSIS
Cytometry
PARAGANGLIOMAS OF THE HEAD AND NECK REGION SHOW COMPLETE LOSS OF HETEROZYGOSITY AT 11Q22-Q23 IN CHIEF CELLS AND THE FLOW-SORTED DNA ANEUPLOID FRACTION
Human pathology
DO HUMAN CHROMOSOMAL BANDS 16P13 AND 22Q11-13 SHARE ANCESTRAL ORIGINS
American journal of human genetics
FOUNDER EFFECT AT PGL1 IN HEREDITARY HEAD AND NECK PARAGANGLIOMA FAMILIES FROM THE NETHERLANDS
American journal of human genetics
BRCA1 GENOMIC DELETIONS ARE MAJOR FOUNDER MUTATIONS IN DUTCH BREAST-CANCER PATIENTS
Nature genetics
CENTROMERIC AND NONCENTROMERIC ADE2-SELECTABLE FRAGMENTATION VECTORS FOR YEAST ARTIFICIAL CHROMOSOMES IN AB1380
PCR methods and applications
UNTITLED
European journal of human genetics
HIGH-RESOLUTION MAPPING BY YAC FRAGMENTATION OF A 2.5-MB XP22 REGION CONTAINING THE HUMAN RS, KFSD AND CLS DISEASE GENES
Mammalian genome
CONSTRUCTION OF A 1.2-MB CONTIG SURROUNDING, AND MOLECULAR ANALYSIS OF, THE HUMAN CREB-BINDING PROTEIN (CBP CREBBP) GENE ON CHROMOSOME 16P13.3/
Genomics
DETECTION OF CBP REARRANGEMENTS IN ACUTE MYELOGENOUS LEUKEMIA WITH T(8-16)
Leukemia
EXCLUSION OF PPEF AS THE GENE CAUSING X-LINKED JUVENILE RETINOSCHISIS
Human genetics
MOLECULAR-GENETIC ANALYSIS OF 2 FAMILIES WITH KERATOSIS-FOLLICULARIS SPINULOSA DECALVANS - REFINEMENT OF GENE LOCALIZATION AND EVIDENCE FORGENETIC-HETEROGENEITY
Human genetics
EVOLUTION OF CARDIAC ABNORMALITIES IN BECKER MUSCULAR-DYSTROPHY OVER A 13-YEAR PERIOD
Journal of neurology
PITT-ROGERS-DANKS-SYNDROME AND WOLF-HIRSCHHORN-SYNDROME ARE CAUSED BYA DELETION IN THE SAME REGION ON CHROMOSOME 4P16.3
Journal of Medical Genetics
THE CLINICAL AND MOLECULAR-GENETIC APPROACH TO DUCHENNE AND BECKER MUSCULAR-DYSTROPHY - AN UPDATED PROTOCOL
Journal of Medical Genetics
MUTATION DETECTION IN THE REPEATED PART OF THE PKD1 GENE
American journal of human genetics
LARGE GENOMIC DELETIONS IN BRCA1 AS MAJOR FOUNDER MUTATIONS AMONG DUTCH BREAST-CANCER FAMILIES
American journal of human genetics
HEREDITARY PARAGANGLIOMAS - HETEROGENEITY ANALYSIS AND A FOUNDER EFFECT IN SEVERAL DUTCH FAMILIES
American journal of human genetics
A GENOME-SEQUENCE BASED APPROACH TO COMPUTATIONAL AND EXPERIMENTAL CANDIDATE GENE ANALYSIS OF WOLF-HIRSCHHORN-SYNDROME
American journal of human genetics
REFINEMENT OF THE LOCALIZATION OF THE X-LINKED RETINOSCHISIS GENE
American journal of human genetics
ANALYSIS OF C-ELEGANS NEMATODES TRANSGENIC FOR THE START OF THE HD GENE WITH AND WITHOUT AN EXTENDED CAG-REPEAT
American journal of human genetics
THE DUCHENNE BECKER-MUSCULAR-DYSTROPHY DATA PAGES/
American journal of human genetics
A HIGH PROPORTION OF NOVEL MUTATIONS IN BRCA1 WITH STRONG FOUNDER EFFECTS AMONG DUTCH AND BELGIAN HEREDITARY BREAST AND OVARIAN-CANCER FAMILIES
American journal of human genetics
A 10-CM YAC CONTIG SPANNING GLC1A, THE PRIMARY OPEN-ANGLE GLAUCOMA LOCUS AT 1Q23-Q25
European journal of human genetics
CONFINEMENT OF PGL, AN IMPRINTED GENE CAUSING HEREDITARY PARAGANGLIOMAS, TO A 2-CM INTERVAL ON 11Q22-Q23 AND EXCLUSION OF DRD2 AND NCAM AS CANDIDATE GENES
European journal of human genetics
AN XP22.1-P22.2 YAC CONTIG ENCOMPASSING THE DISEASE LOCI FOR RS, KFSD, CLS, HYP AND RP15 - REFINED LOCALIZATION OF RS
European journal of human genetics
HUMAN-GENETICS, A PREDICTION
European journal of human genetics
SUBCELLULAR-LOCALIZATION OF THE HUNTINGTONS-DISEASE GENE-PRODUCT IN CELL-LINES BY IMMUNOFLUORESCENCE AND BIOCHEMICAL SUBCELLULAR FRACTIONATION
Human molecular genetics
APPLICATION OF IN-VITRO MYO-DIFFERENTIATION OF NONMUSCLE CELLS TO ENHANCE GENE-EXPRESSION AND FACILITATE ANALYSIS OF MUSCLE PROTEINS
Neuromuscular disorders
EXON MAPPING BY FIBER-FISH OR LR-PCR
Genomics
SIMPLE METHOD FOR DETECTION OF MYH11 DNA REARRANGEMENTS IN PATIENTS WITH INV(16)(P13Q22) AND ACUTE MYELOID-LEUKEMIA
Leukemia
ACUTE MYELOGENOUS LEUKEMIA - A DISORDER OF GENE-SPLICING
Leukemia
DETECTION OF FETAL ERYTHROBLASTS IN MATERNAL BLOOD BY ONESTEP GRADIENT ENRICHMENT AND IMMUNOCYTOCHEMICAL RECOGNITION
Early human development
SCANNING FOR GENES IN LARGE GENOMIC REGIONS - COSMID-BASED EXON TRAPPING OF MULTIPLE EXONS IN A SINGLE-PRODUCT
Nucleic acids research
FAMILIAL HEMIPLEGIC MIGRAINE AND EPISODIC ATAXIA TYPE-2 ARE CAUSED BYMUTATIONS IN THE CA2+ CHANNEL GENE CACNL1A4
Cell
SPLICING MUTATIONS IN DMD BMD DETECTED BY RT-PCR/PTT - DETECTION OF A19AA INSERTION IN THE CYSTEINE-RICH DOMAIN OF DYSTROPHIN COMPATIBLE WITH BMD/
Journal of Medical Genetics
THE CLINICAL SPECTRUM OF LIMB-GIRDLE MUSCULAR-DYSTROPHY - A SURVEY INTHE NETHERLANDS
Brain
DIRECT VISUALIZATION OF DISPERSED 11Q13 CHROMOSOMAL TRANSLOCATIONS INMANTLE CELL LYMPHOMA BY MULTICOLOR DNA FIBER FLUORESCENCE IN-SITU HYBRIDIZATION
Blood
CLOSING IN ON THE RIEGER SYNDROME GENE ON 4Q25 - MAPPING TRANSLOCATION BREAKPOINTS WITHIN A 50-KB REGION
American journal of human genetics
APPARENT GENE CONVERSIONS INVOLVING THE SMN GENE IN THE REGION OF THESPINAL MUSCULAR-ATROPHY LOCUS ON CHROMOSOME-5
American journal of human genetics
MULTIPOINT LINKAGE ANALYSIS AND HOMOGENEITY TESTS IN 15 DUTCH X-LINKED RETINITIS-PIGMENTOSA FAMILIES
Ophthalmic genetics
HIGH-RESOLUTION DNA FIBER-FISH ON YEAST ARTIFICIAL CHROMOSOMES - DIRECT VISUALIZATION OF DNA-REPLICATION (VOL 10, PG 477, 1995)
Nature genetics
HIGH-RESOLUTION DNA FIBER-FISH ON YEAST ARTIFICIAL CHROMOSOMES - DIRECT VISUALIZATION OF DNA-REPLICATION
Nature genetics
RAPID DETECTION OF BRCA1 MUTATIONS BY THE PROTEIN TRUNCATION TEST
Nature genetics
DYSTROPHIN EXPRESSION IN THE DEVELOPING CONDUCTION SYSTEM OF THE HUMAN HEART
Microscopy research and technique
POINT MUTATION SCREENING FOR 16 EXONS OF THE DYSTROPHIN GENE BY MULTIPLEX SINGLE-STRAND CONFORMATION POLYMORPHISM ANALYSIS
Human mutation
YEAST ARTIFICIAL CHROMOSOME CLONING OF THE XQ13.3-Q21.31 REGION AND FINE MAPPING OF A DELETION ASSOCIATED WITH CHOROIDEREMIA AND NONSPECIFIC MENTAL-RETARDATION
European journal of human genetics
EXPRESSION OF THE HUMAN DP-71 (APO-DYSTROPHIN-1) GENE FROM A 760-KB DMD-YAC TRANSFERRED TO MOUSE CELLS
European journal of human genetics
A PROVISIONAL TRANSCRIPT MAP OF THE SPINAL MUSCULAR-ATROPHY (SMA) CRITICAL REGION
European journal of human genetics
HIGH-RESOLUTION DNA FIBER-FISH FOR GENOMIC DNA MAPPING AND COLOR BAR-CODING OF LARGE GENES
Human molecular genetics
HISTOLOGICAL CONVERSION OF FOLLICULAR LYMPHOMA WITH STRUCTURAL ALTERATIONS OF T(14-18) AND IMMUNOGLOBULIN GENES
Leukemia
A SUBLOCUS OF THE MULTICOPY MICROSATELLITE MARKER CMS1 MAPS PROXIMAL TO SPINAL MUSCULAR-ATROPHY (SMA) AS SHOWN BY RECOMBINANT ANALYSIS
Human genetics
SOMATIC EXPANSION OF THE (CAG)(N) REPEAT IN HUNTINGTON DISEASE BRAINS
Human genetics
ISOLATION OF A NOVEL GENE UNDERLYING BATTEN-DISEASE, CLN3
Cell
RUBINSTEIN-TAYBI SYNDROME CAUSED BY MUTATIONS IN THE TRANSCRIPTIONAL COACTIVATOR CBP
Nature
RT-PCR DIAGNOSIS OF PATIENTS WITH ACUTE NONLYMPHOCYTIC LEUKEMIA AND INV(16)(P13Q22) AND IDENTIFICATION OF NEW ALTERNATIVE SPLICING IN CBFB-MYH11 TRANSCRIPTS
Blood
LYMPHOMA-ASSOCIATED TRANSLOCATION T(14-18) IN BLOOD B-CELLS OF NORMALINDIVIDUALS
Blood
SINGLE-GENE FOR RUBINSTEIN-TAYBI SYNDROME ON CHROMOSOME-16 IDENTIFIED- THE TRANSCRIPTIONAL COACTIVATOR CBP
American journal of human genetics
SINGLE SPERM ANALYSIS OF THE TRANSITION FROM HIGH NORMAL TO DISEASED TRIPLET REPEAT LENGTH AT THE HUNTINGTONS-DISEASE LOCUS
American journal of human genetics
SCANNING FOR GENES WITH A COSMID-BASED EXON TRAP VECTOR
American journal of human genetics
MAPPING TRANSLOCATION BREAKPOINTS IN RIEGER SYNDROME WITHIN A 200 KB REGION
American journal of human genetics
CONSTRUCTION OF A TRANSCRIPTION MAP IN THE REGION OF THE RETINOSCHISIS DISEASE GENE
American journal of human genetics
MAKING ENDS MEET
Nature genetics
IDENTIFICATION OF KEY RECOMBINANTS IN MULTIPLEX SMA FAMILIES
Genomics
THE HUMAN NF-KAPPA-B3 GENE ENCODING THE P65 SUBUNIT OF TRANSCRIPTION FACTOR NF-KAPPA-B IS LOCATED ON CHROMOSOME 11Q12
Genomics
PULSED-FIELD GEL-ELECTROPHORESIS OF THE D4F104S1 LOCUS REVEALS THE SIZE AND THE PARENTAL ORIGIN OF THE FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD)-ASSOCIATED DELETIONS
Genomics
A POLYMORPHIC STS IN INTRON-44 OF THE DYSTROPHIN GENE
Human genetics
SPECIFIC ISOLATION OF 3'-TERMINAL EXONS OF HUMAN GENES BY EXON TRAPPING
Nucleic acids research
CONSTRUCTION OF A YAC CONTIG IN THE HUMAN XP22.1 REGION
Cytogenetics and cell genetics
FINE MAPPING OF KERATOSIS SPINULOSA DECALVANS (KFSD) IN XP22
Cytogenetics and cell genetics
YAC CONTIGS IN THE PERICENTROMERIC REGION OF THE X-CHROMOSOME
Cytogenetics and cell genetics
ISOLATION OF CDNAS FROM THE FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY REGION
Cytogenetics and cell genetics
PFGE REVEALS THE SIZE AND PARENTAL ORIGIN OF THE FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY ASSOCIATED REARRANGEMENT
Cytogenetics and cell genetics
ANALYSIS OF THE EXPANDING (CAG)N REPEAT IN THE DUTCH HUNTINGTONS-DISEASE PATIENT POPULATION
Cytogenetics and cell genetics
SEARCHING FOR GENES IN A 450 KB COSMID CONTIG NEAR THE HUNTINGTONS-DISEASE GENE
Cytogenetics and cell genetics
A SIMPLE AND RAPID METHOD FOR SEPARATING CO-CLONED YACS
Trends in genetics
LYMPHOMA ASSOCIATED TRANSLOCATION T(14-18) IN BLOOD B-CELLS OF NORMALINDIVIDUALS
Blood
CHROMOSOME 4 LOCALIZATION OF A 2ND GENE FOR AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE
Nature genetics
A HIGH-RESOLUTION DELETION MAP OF HUMAN CHROMOSOME-XP22
Nature genetics
FSHD ASSOCIATED DNA REARRANGEMENTS ARE DUE TO DELETIONS OF INTEGRAL COPIES OF A 3.2 KB TANDEMLY REPEATED UNIT
Human molecular genetics
CHARACTERIZATION AND LOCALIZATION OF THE HUNTINGTON DISEASE GENE-PRODUCT
Human molecular genetics
A CA-REPEAT POLYMORPHISM NEAR DXS418 (P122)
Human molecular genetics
CLONING THE BREAKPOINT CLUSTER REGION OF THE INV(16) IN ACUTE NONLYMPHOCYTIC LEUKEMIA M4 EO
Human molecular genetics
PHYSICAL MAPPING AND YAC-CLONING CONNECTS 4 GENETICALLY DISTINCT 4QTER LOCI (D4S163, D4S139, D4F35S1 AND D4F104S1) IN THE FSHD GENE-REGION
Human molecular genetics
PROTEIN TRUNCATION TEST (PTT) FOR RAPID DETECTION OF TRANSLATION-TERMINATING MUTATIONS
Human molecular genetics
ADDITIONAL EVIDENCE FOR A GENE LOCUS FOR PROGRESSIVE CONE DYSTROPHY WITH LATE ROD INVOLVEMENT IN XP21.1-P11.3
Genomics
3 HUMAN GLUTAMATE-DEHYDROGENASE GENES (GLUD1, GLUDP2, AND GLUDP3) ARELOCATED ON CHROMOSOME-10Q, BUT ARE NOT CLOSELY PHYSICALLY LINKED
Genomics
A HIGH-RESOLUTION 30-MB DELETION MAP OF THE DISTAL SHORT ARM OF THE HUMAN X-CHROMOSOME
Cytogenetics and cell genetics
ISOLATION OF YACS FROM THE HUMAN XP22 REGION
Cytogenetics and cell genetics
METHODS FOR PULSED-FIELD GEL-ELECTROPHORESIS
Applied biochemistry and biotechnology