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FISH with locus-specific probes on stretched chromosomes: a useful tool for genome organization studies (vol 9, pg 167, 2001)
CHROMOSOME RESEARCH
FISH with locus-specific probes on stretched chromosomes: A useful tool for genome organization studies
CHROMOSOME RESEARCH
Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fibers
HUMAN GENETICS
FISH characterization of t(8;12)(q12;p13) observed as the sole karyotypic anomaly in a myelodysplastic syndrome patient
CANCER GENETICS AND CYTOGENETICS
Multicolor FISH in chronic lymphocytic leukemia. An interphase study of patients with early-onset disease
CANCER GENETICS AND CYTOGENETICS
Refilled FISH characterization of a de novo 1p22-p36.2 paracentric inversion and associated 1p21-22 deletion in a patient with signs of 1p36 microdeletion syndrome
AMERICAN JOURNAL OF MEDICAL GENETICS
FISH characterization of a supernumerary r(1)(:: cen -> q22 :: q22 -> sq21::) chromosome associated with multiple anomalies and bilateral cataracts
AMERICAN JOURNAL OF MEDICAL GENETICS
Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa
CANCER
Reproductive follow-up of carriers of familial reciprocal balanced translocations Involving chromosome 9 and comparison with predicted outcome
GENETIC COUNSELING
RNA hyperediting and alternative splicing of hematopoietic cell phosphatase (PTPN6) gene in acute myeloid leukemia
HUMAN MOLECULAR GENETICS
Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1biallelic expression
CLINICAL DYSMORPHOLOGY
Beneficial effect of fluoxetine in a case of sporadic hyperekplexia
CLINICAL NEUROPHARMACOLOGY
Delineation and physical separation of novel translocation breakpoints on chromosome 1p in two genetically closely associated childhood tumors
CYTOGENETICS AND CELL GENETICS
19p deletion in recurring leiomyosarcoma lesions from the same patient
CANCER GENETICS AND CYTOGENETICS
Trisomy 4 leading to duplication of a mutated KIT allele in acute myeloid leukemia with mast cell involvement
CANCER GENETICS AND CYTOGENETICS
Patient with large 17p11.2 deletion presenting with Smith-Magenis syndromeand Joubert syndrome phenotype
AMERICAN JOURNAL OF MEDICAL GENETICS
Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: Linkage analysis and clinical findings in a three-generation Sardinian family
AMERICAN JOURNAL OF MEDICAL GENETICS
A tumor suppressor locus in familial and sporadic chordoma maps to 1p36
INTERNATIONAL JOURNAL OF CANCER
Non-random trisomies of chromosomes 5, 8 and 12 in the prolactinoma sub-type of pituitary adenomas: Conventional cytogenetics and interphase fish study
INTERNATIONAL JOURNAL OF CANCER
C-kit mutations in core binding factor leukemias
BLOOD
NF1 microdeletion syndrome: Refined FISH characterization of sporadic and familial deletions with locus-specific probes
AMERICAN JOURNAL OF HUMAN GENETICS
Distribution and high frequency of novel alleles at NF1 polymorphic markers in the Italian population
MOLECULAR AND CELLULAR PROBES
FISH characterization of two supernumerary r(1) associated with distinct clinical phenotypes
AMERICAN JOURNAL OF MEDICAL GENETICS
New case of the Richieri-Costa/Guion-Almeida syndrome
AMERICAN JOURNAL OF MEDICAL GENETICS
First cytogenetic study of a recurrent familial chordoma of the clivus
INTERNATIONAL JOURNAL OF CANCER
IN-VIVO DIFFERENTIATION OF MAST-CELLS FROM ACUTE MYELOID-LEUKEMIA BLASTS CARRYING A NOVEL ACTIVATING LIGAND-INDEPENDENT C-KIT MUTATION
Blood cells, molecules, & diseases (Print)
CHOANAL ATRESIA AS SOLE CONSEQUENCE OF THE 45,XX,DER(9)T(9-22)(P24-Q12)MAT,-22 KARYOTYPE
European journal of human genetics
FISH CHARACTERIZATION OF 2 SUPERNUMERARY R(1) ASSOCIATED WITH CLINICAL PHENOTYPE
European journal of human genetics
HIGH-LEVEL TRISOMY-8 MOSAICISM IN PERIPHERAL-BLOOD LYMPHOCYTES FROM AROTHMUND-THOMSON-SYNDROME PATIENT
European journal of human genetics
IDENTIFICATION OF THE ORIGIN OF A RARE CHROMOSOME 5Q HETEROCHROMATIC VARIANT BY FISH
European journal of human genetics
NON SPECIFIC X-LINKED MENTAL-RETARDATION IN A SARDINIAN FAMILY
European journal of human genetics
UNIPARENTAL DISOMY AND PEG1 MEST GENE IN SILVER-RUSSELL-SYNDROME/
European journal of human genetics
A rare chromosome 5 heterochromatic variant derived from insertion of 9qh satellite 3 sequences
CHROMOSOME RESEARCH
TRISOMY 4 AND C-KIT MUTATION IN A T(8-21) MYELOID-LEUKEMIA WITH MAST-CELL INVOLVEMENT
Cytogenetics and cell genetics
19P13.12-PTER DELETION IN MULTIPLE LEIOMYOSARCOMAS FROM THE SAME PATIENT
Cytogenetics and cell genetics
TRANSLOCATION (7-17)(Q22-P13) AS A SOLE KARYOTYPIC CHANGE IN AN ADRENAL ADENOMA
Cancer genetics and cytogenetics
MOLECULAR CHARACTERIZATION OF FRAXE-POSITIVE SUBJECTS WITH MENTAL IMPAIRMENT IN 2 UNRELATED ITALIAN FAMILIES
American journal of medical genetics
CHROMOSOMAL INSTABILITY IN FIBROBLASTS AND MESENCHYMAL TUMORS FROM 2 SIBS WITH ROTHMUND-THOMSON-SYNDROME
International journal of cancer
AN UNUSUAL FRAGILE-X SIBSHIP - FEMALE COMPOUND HETEROZYGOTE AND MALE WITH A PARTIALLY METHYLATED FULL MUTATION
Clinical genetics
IN-VIVO DIFFERENTIATION OF MAST-CELLS FROM AML M2 BLASTS CARRYING A NOVEL ACTIVATING LIGAND-INDEPENDENT C-KIT MUTATION
British Journal of Haematology
C-KIT ACTIVATING MUTATIONS AND MAST-CELL PROLIFERATION IN HUMAN LEUKEMIA
Blood
11 X-CHROMOSOME BREAKPOINTS ASSOCIATED WITH PREMATURE OVARIAN FAILURE(POF) MAP TO A 15-MB YAC CONTIG SPANNING XQ21
Genomics
PAST AND FUTURE CYTOGENETIC TOOLS TO IDENTIFY GENES INVOLVED IN DEVELOPMENT AND PROGRESSION OF SOLID TUMORS
Cytogenetics and cell genetics
HIGH CHROMOSOMAL INSTABILITY IN FIBROBLASTS AND MESENCHYMAL TUMORS FROM A SIBSHIP OF AN INBRED PEDIGREE WITH ROTHMUND-THOMSON SYNDROME (RTS)
Cytogenetics and cell genetics
EXPRESSION OF RARE FRA10Q24 - CHROMOSOME TRUNCATION, AMPLIFICATION OFDISTAL SEGMENT AND TELOMERE RENEWAL
Cytogenetics and cell genetics
CYTOGENETIC STUDY OF PITUITARY-ADENOMA
Cytogenetics and cell genetics
CYTOGENETIC CHARACTERIZATION OF A CLIVUS CHORDOMA IN A CANCER FAMILY PATIENT
Cytogenetics and cell genetics
CYTOGENETIC FINDINGS ON MULTIPLE LEIOMYOSARCOMA THE SAME PATIENT
Cytogenetics and cell genetics
CYTOGENETIC STUDY OF PITUITARY-ADENOMAS
Cancer genetics and cytogenetics
GENOTYPE-PHENOTYPE CORRELATION IN 2 SETS OF MONOZYGOTIC TWINS WITH WILLIAMS-SYNDROME
American journal of medical genetics
EXPRESSION OF 3 RARE FRAGILE SITES - CHROMOSOMAL TRUNCATION, AMPLIFICATION OF DISTAL SEGMENT AND TELOMERIC RENEWAL
Chromosoma
COMPLEX 1P PARACENTRIC INVERSION AND DELETIONS IN A SUSPECTED PRADER-WILLI PATIENT
American journal of human genetics
A CONTIG OF 18 MEGAYAC SPANNING THE 17Q11.2-12 REGION
American journal of human genetics
MICROSATELLITE INSTABILITY IN IVS3 OF MURINE C-FES GENE - TUMOR-ASSOCIATED REARRANGEMENT AND MAMMALIAN DIVERGENCE
Mammalian genome
A NOVEL POTENTIALLY DIAGNOSTIC POLYMORPHISM (4894-A C) IN EXON-10 OF THE HUMAN C-KIT PROTOONCOGENE/
Molecular and cellular probes
AN IMPROVED PROCEDURE FOR IN-SITU RTPCR
Molecular and cellular probes
EXPRESSION PATTERN OF C-SIS, C-FOS AND C-JUN IN HUMAN PLACENTA AND EMBRYOFETAL ORGANS
Gynecologic and obstetric investigation
CHARACTERIZATION OF A CYTOGENETIC 17Q11.2 DELETION IN AN NF1 PATIENT WITH A CONTIGUOUS GENE SYNDROME
Human genetics
DETECTION OF C-KIT ANTIGEN (CD117) AND C-KIT MESSENGER-RNA IN ACUTE-LEUKEMIA
Experimental hematology
FISH CHARACTERIZATION OF THE XQ21 BREAKPOINT IN A TRANSLOCATION CARRIER WITH PREMATURE OVARIAN FAILURE
Clinical genetics
A NOVEL MUTATION (GLN266-]HIS) IN THE ALPHA1 SUBUNIT OF THE INHIBITORY GLYCINE-RECEPTOR GENE (GLRA1) IN HEREDITARY HYPEREKPLEXIA
American journal of human genetics
A 12-BP DELETION (7818DEL12) IN THE C-KIT PROTOONCOGENE IN A LARGE ITALIAN KINDRED WITH PIEBALDISM
Human mutation
IDENTIFICATION OF CHROMOSOMAL REARRANGEMENTS IN THE HUMAN MYELOID-LEUKEMIA CELL-LINE GF-D8 BY DUAL-COLOR FLUORESCENCE IN-SITU HYBRIDIZATION
Hematological oncology
HYPERTONIC STRESS INDUCES C-FOS BUT NOT C-JUN EXPRESSION IN THE HUMANEMBRYONAL EUE EPITHELIAL-CELL LINE
European journal of cell biology
HIGH SPONTANEOUS CHROMOSOMAL DAMAGE IN LYMPHOCYTES FROM PATIENTS WITHHEREDITARY MEGADUODENUM
Mutation research. Mutation research letters
FISH ANALYSIS IN PRADER-WILLI AND ANGELMAN SYNDROME PATIENTS
American journal of medical genetics
SPONTANEOUS CHROMOSOMAL FRAGILITY IN PATIENTS WITH FAMILIAL VISCERAL MYOPATHY WITH MEGADUODENUM
Gastroenterology
CYTOGENETIC AND MOLECULAR STUDIES ON NF1 PATIENTS WITH DYSMORPHISM AND MENTAL-RETARDATION
American journal of human genetics
CHARACTERIZATION OF SMALL EXTRA MARKER CHROMOSOME IN 2 PRADER-WILLI PATIENTS BY FLUORESCENCE IN-SITU HYBRIDIZATION (FISH)
American journal of human genetics
A NEW MISSENSE MUTATION IN EXON-6 OF THE GLYCINE RECEPTOR (GLRA1) GENE IN HEREDITARY HYPEREKPLEXIA
American journal of human genetics
3-WAY AND 2-WAY REARRANGEMENTS INVOLVING CHROMOSOMES 10, 2, 5 AND 5, 2 IN 2 MARKER CHROMOSOMES OF A HUMAN-MELANOMA CELL-LINE
Melanoma research
CHARACTERIZATION OF XQ BALANCED TRANSLOCATIONS IN PREMATURE OVARIAN FAILURE
Cytogenetics and cell genetics
GF-D8 - A NEW HUMAN MYELOID-LEUKEMIA CELL-LINE CARRYING ABNORMALITIESOF CHROMOSOME-7
Cytogenetics and cell genetics
DIFFERENTIAL INDUCTION OF THE 2 EARLY GENES C-JUN AND C-FOS IN WEAKLYAND STRONGLY METASTATIC MURINE LYMPHOMA CELL-LINES
International journal of cancer
SATELLITE DNA-SEQUENCES FLANK AMPLIFIED DHFR DOMAINS IN MARKER CHROMOSOMES OF MOUSE FIBROSARCOMA CELLS
Genetica
PRENATAL-DIAGNOSIS OF AN EXTRANUMERARY I(22P) WITH NORMAL PHENOTYPE
Annales de genetique