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Anaesthetic management of Cat Eye Syndrome
PAEDIATRIC ANAESTHESIA
Partial tetrasomy 12pter-12p12.3 in a girl with Pallister-Killian syndrome: extraordinary finding of an analphoid, inverted duplicated marker
EUROPEAN JOURNAL OF HUMAN GENETICS
Phenotypic variability of the cat eye syndrome. Case report and review of the literature
GENETIC COUNSELING
Phenotypic variability of cat-eye syndrome
GENETIC COUNSELING
Development of the X-linked tetrameric microsatellite marker HumDXS6789 for forensic purposes
FORENSIC SCIENCE INTERNATIONAL
Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostics
CYTOGENETICS AND CELL GENETICS
Expansion of repetitive DNA into cytogenetically visible elements
CYTOGENETICS AND CELL GENETICS
Identification of a small supernumerary marker chromosome, r(2)(p10q11.2),and the problem of determining prognosis
PRENATAL DIAGNOSIS
Fluorescence in situ hybridization analysis of sex-chromosome mosaicism inazoospermic men
JOURNAL OF ANDROLOGY
Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy
AMERICAN JOURNAL OF MEDICAL GENETICS
Boy with bilateral retinoblastoma due to an unusual ring chromosome 13 with activation of a latent centromere
AMERICAN JOURNAL OF MEDICAL GENETICS
FISH characterization of dynamic mosaicism involving an inv dup(15) in a patient with mental retardation
AMERICAN JOURNAL OF MEDICAL GENETICS
Minute supernumerary marker chromosomes identified in two patients with a related, larger pseudodicentric chromosome
AMERICAN JOURNAL OF MEDICAL GENETICS
Mosaic trisomy of a small r(1) with an abnormal phenotype
AMERICAN JOURNAL OF MEDICAL GENETICS
Characterization of a long-term survivor with Stuve-Wiedemann syndrome andmosaicism of a supernumerary marker chromosome
AMERICAN JOURNAL OF MEDICAL GENETICS
A non-sex chromosome marker in a patient with an atypical Ullrich-Turner phenotype and mosaicism of 46,X,mar/46,XX
CLINICAL GENETICS
Up-regulation of cyclin-dependent kinase 4/Cyclin d2 expression but down-regulation of cyclin-dependent kinase 2/cyclin E in testicular germ cell tumors
CANCER RESEARCH
Symptomatic generalized epilepsy associated with an inverted duplication of chromosome 15
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
Prenatally detected marker chromosome identified as an i(22)(p10) using (micro)FISH
GENETIC COUNSELING
Combined PI-DAPI staining (CPD) reveals NOR asymmetry and facilitates karyotyping of plant chromosomes
CHROMOSOME RESEARCH
Characterization and clinical implications of marker chromosomes identified at prenatal diagnosis
PRENATAL DIAGNOSIS
Dicentric marker derived from chromosome 22 associated with mild clinical signs: a case report
PRENATAL DIAGNOSIS
Rapid identification of a small dicentric supernumerary marker derived from chromosome 16 with a modified FISH technique on amniotic fluid
PRENATAL DIAGNOSIS
Frequent loss of 9p21 (p16(INK4A)) and other genomic imbalances in human malignant fibrous histiocytoma
CANCER GENETICS AND CYTOGENETICS
Analphoid 3qter markers
AMERICAN JOURNAL OF MEDICAL GENETICS
Tetrasomy 15q25 -> qter: Cytogenetic and molecular characterization of an analphoid supernumerary marker chromosome
AMERICAN JOURNAL OF MEDICAL GENETICS
Mosaic tetrasomy 8q: Inverted duplication of 8q23.3qter in an analphoid marker
AMERICAN JOURNAL OF MEDICAL GENETICS
Mirror-symmetric duplicated chromosome 21q with minor proximal deletion, and with neocentromere in a child without the classical Down syndrome phenotype
AMERICAN JOURNAL OF MEDICAL GENETICS
Preferential involvement of the short arm in chromosome 8-derived supernumerary markers and ring as identified by chromosome arm painting
AMERICAN JOURNAL OF MEDICAL GENETICS
Long survival and therapeutic responses in patients with histologically disparate high-grade gliomas demonstrating chromosome 1p loss
JOURNAL OF NEUROSURGERY
A supernumerary marker chromosome originating from two different regions of chromosome 18
JOURNAL OF MEDICAL GENETICS
Segregation of a supernumerary del(15) marker chromosome in sperm
CLINICAL GENETICS
Analysis of sex chromosome aneuploidy in 41 patients with Turner syndrome:a study of 'hidden' mosaicism
CLINICAL GENETICS
Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere
AMERICAN JOURNAL OF HUMAN GENETICS
Assessment of genomic imbalances in malignant fibrous histiocytomas by comparative genomic hybridization
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation
GENETICS IN MEDICINE
Maternal UPD 20 in a hyperactive child with severe growth retardation
EUROPEAN JOURNAL OF HUMAN GENETICS
Prenatal detection of extra structurally abnormal chromosomes (ESACs): Newcases and a review of the literature
PRENATAL DIAGNOSIS
Molecular cytogenetic characterization of a prenatally detected supernumerary minute marker chromosome 8
PRENATAL DIAGNOSIS
Characterization of a small supernumerary ring marker derived from chromosome 2 by forward and reverse chromosome painting
AMERICAN JOURNAL OF MEDICAL GENETICS
Proximal 5p trisomy resulting from a marker chromosome implicates band 5p13 in 5p trisomy syndrome
AMERICAN JOURNAL OF MEDICAL GENETICS
De novo complete trisomy 5p: Clinical report and FISH studies
AMERICAN JOURNAL OF MEDICAL GENETICS
FISH characterization of two supernumerary r(1) associated with distinct clinical phenotypes
AMERICAN JOURNAL OF MEDICAL GENETICS
Skin pigmentary anomalies and mosaicism for an acentric marker chromosome originating from 3q
JOURNAL OF MEDICAL GENETICS
Infantile autism and associated autosomal chromosome abnormalities: A register-based study and a literature survey
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY AND ALLIED DISCIPLINES
Mosaicism for a small marker chromosome resulting from a familial Robertsonian translocation (21;22)
CLINICAL GENETICS
CYTOGENETIC AND FLUORESCENCE IN-SITU HYBRIDIZATION ANALYSES OF CHROMOSOME-19 ABERRATIONS IN PANCREATIC CARCINOMAS - FREQUENT LOSS OF 19P13.3 AND GAIN OF 19Q13.1-13.2
Genes, chromosomes & cancer
CAT EYE SYNDROME WITH HYPOGONADOTROPIC HYPOGONADISM
Internal medicine
UNUSUAL FEATURES IN CHILDREN WITH INV DUP(15) SUPERNUMERARY MARKER - A STUDY OF GENOTYPE-PHENOTYPE CORRELATION IN TAIWAN
European journal of pediatrics
A case of dermatofibrosarcoma protuberans with a ring chromosome 5 and a rearranged chromosome 22 containing amplified COL1A1 and PDGFB sequences
CANCER LETTERS
Some genetic aspects of ovarian tumors
EUROPEAN JOURNAL OF OBSTETRICS GYNECOLOGY AND REPRODUCTIVE BIOLOGY
Two extended arrays of a satellite DNA sequence at the centromere and at the short-arm telomere of Chinese hamster chromosome 5
CYTOGENETICS AND CELL GENETICS
FAMILIAL SUPERNUMERARY MARKER CHROMOSOME EVOLUTION THROUGH 3 GENERATIONS
Prenatal diagnosis
Prenatal identification of mos45,X/46,X,+mar in a normal male baby by cytogenetic and molecular analysis
PRENATAL DIAGNOSIS
AUTISTIC SYMPTOMS AMONG CHILDREN AND YOUNG-ADULTS WITH ISODICENTRIC CHROMOSOME-15
American journal of medical genetics
CHARACTERIZATION OF A SUPERNUMERARY MARKER DERIVED FROM CHROMOSOME-17BY MICRODISSECTION IN AN ADULT WITH MR MCA/
American journal of medical genetics
CHARACTERIZATION OF A SUPERNUMERARY SMALL MARKER X-CHROMOSOME IN 2 FEMALES WITH SIMILAR PHENOTYPES
American journal of medical genetics
Identification of an unusual marker chromosome by spectral karyotyping
AMERICAN JOURNAL OF MEDICAL GENETICS
A supernumerary marker chromosome vertical bar dic(22)(q11)vertical bar ina family with hypoparathyroidism, sensorineural deafness and renal dysplasiav
MONATSSCHRIFT KINDERHEILKUNDE
Cytogenetics of the nucleolus organizer regions (NORs) of human chromosomes: The identification, individual variation, and chromosome distribution offour morphological functional variants of NORs
GENETIKA
THE COMPARATIVE-ANALYSIS OF NOR POLYMORPHISM DETECTED BY FISH AND AG-STAINING ON HORSE CHROMOSOMES
Caryologia
PRIMED IN-SITU (PRINS) LABELING FOR RAPID DETECTION OF NUMERIC AND STRUCTURAL CHROMOSOME-ANOMALIES
Journal of the Formosan Medical Association
CHARACTERIZATION OF MARKER CHROMOSOMES BY FISH USING MICRODISSECTED PROBES FROM OLD CARNOY-FIXED CELLS - REPORT OF 2 CASES
Japanese journal of human genetics
KARYOTYPIC ANALYSIS OF 32 MALIGNANT EPITHELIAL OVARIAN-TUMORS
Cancer genetics and cytogenetics
CLINICAL-SIGNIFICANCE OF CYTOGENETIC FINDINGS IN SOLID TUMORS
Cancer genetics and cytogenetics
FAMILIAL TRANSMISSION OF A SMALL SUPERNUMERARY MARKER CHROMOSOME08 IDENTIFIED BY FISH - AN UPDATE
American journal of medical genetics
AN APPARENTLY ACENTRIC MARKER CHROMOSOME ORIGINATING FROM 9P WITH A FUNCTIONAL CENTROMERE WITHOUT DETECTABLE ALPHA-SATELLITE AND BETA-SATELLITE SEQUENCES
American journal of medical genetics
SEX-CHROMOSOME MARKERS - CHARACTERIZATION USING FLUORESCENCE IN-SITU HYBRIDIZATION AND REVIEW OF THE LITERATURE
American journal of medical genetics
SUPERNUMERARY RING CHROMOSOME-17 IDENTIFIED BY FLUORESCENT IN-SITU HYBRIDIZATION
American journal of medical genetics
MOLECULAR-STRUCTURE OF A FUNCTIONAL DROSOPHILA CENTROMERE
Cell
SUPERNUMERARY MARKER CHROMOSOMES (SMCS) IN TURNER-SYNDROME ARE MOSTLYDERIVED FROM THE Y-CHROMOSOME
Clinical genetics
DE NOVA TRISOMY-22 DUE TO AN EXTRA 22Q-CHROMOSOME
Annales de genetique
CLINICAL-APPLICATIONS OF PRIMED IN-SITU LABELING (PRINS) RAPID IDENTIFICATION OF A MARKER CHROMOSOME IN A FETUS
Annales de genetique
COMBINED USE OF CYTOGENETIC ANALYSIS AND FISH FOR THE IDENTIFICATION OF 2 ANTENATAL DE-NOVO MARKERS AS ROBERTSONIAN TRANSLOCATIONS INVOLVING THE P-ARMS
Annales de genetique
IMPLICATION OF INVOLVEMENT OF RAT CHROMOSOME NUMBER-2 IN SPONTANEOUS TRANSFORMATION OF THE RAT-2 CELL-LINE
Cell biology international
MATERNAL ORIGIN OF INV DUP(15) CHROMOSOMES IN INFANTILE-AUTISM
European child & adolescent psychiatry
TETRASOMY 18P DE-NOVO - PARENTAL ORIGIN AND DIFFERENT MECHANISMS OF FORMATION
European journal of human genetics
MICRODISSECTION AND DOP-PCR-BASED REVERSE CHROMOSOME PAINTING AS A FAST AND RELIABLE STRATEGY IN THE ANALYSIS OF VARIOUS STRUCTURAL CHROMOSOME-ABNORMALITIES
Prenatal diagnosis
FLUORESCENCE IN-SITU HYBRIDIZATION-BASED APPROACHES FOR DETECTION OF 12P OVERREPRESENTATION, IN PARTICULAR I(12P), IN CELL-LINES OF HUMAN TESTICULAR GERM-CELL TUMORS OF ADULTS
Cancer genetics and cytogenetics
SYSTEMATIC CHROMOSOME EXAMINATION OF 2 FAMILIES WITH SCHIZOPHRENIA AND 2 FAMILIES WITH MANIC-DEPRESSIVE ILLNESS
American journal of medical genetics
DIAGNOSIS OF 4 CHROMOSOME-ABNORMALITIES OF UNKNOWN ORIGIN BY CHROMOSOME MICRODISSECTION AND SUBSEQUENT REVERSE AND FORWARD PAINTING
American journal of medical genetics
MOSAIC TETRASOMY 15Q25-]QTER IN A NEWBORN-INFANT WITH MULTIPLE ANOMALIES
American journal of medical genetics
CYTOGENETIC AND MOLECULAR ANALYSIS OF INV-DUP(15) CHROMOSOMES OBSERVED IN 2 PATIENTS WITH AUTISTIC DISORDER AND MENTAL-RETARDATION
American journal of medical genetics
SCANNING ELECTRON-MICROSCOPY OF FRAGMENTARY MARKER CHROMOSOMES OBSERVED BY LIGHT-MICROSCOPY
Tohoku Journal of Experimental Medicine
MARKER CHROMOSOME IDENTIFICATION BY MICRO-FISH
Clinical genetics
DISTRIBUTION OF MARKER-Y CHROMOSOME CONTAINING CELLS IN DIFFERENT TISSUES OF A TURNER MOSAIC PATIENT WITH MIXED GONADAL-DYSGENESIS
Clinical genetics
CHROMOSOME-22 MARKER IN A CHILD WITH DUANE SYNDROME AND UROGENITAL ABNORMALITIES
Annales de genetique
GENETIC-COUNSELING IN A PRENATAL MARKER CHROMOSOME IDENTIFIED AS AN I(18P) BY IN-SITU HYBRIDIZATION
Annales de genetique
ROLE OF ULTRASONOGRAPHY IN PREGNANCIES WITH MARKER CHROMOSOME ANEUPLOIDY
Fetal diagnosis and therapy
FLUORESCENT IN-SITU HYBRIDIZATION (FISH) AS AN AID TO MARKER CHROMOSOME IDENTIFICATION IN PRENATAL-DIAGNOSIS
European journal of obstetrics, gynecology, and reproductive biology
AN ACCESSORY MARKER DERIVED FROM CHROMOSOME-20 AND ITS COEXISTENCE WITH A MOSAIC TRISOMY-20 CELL-LINE
Prenatal diagnosis
CHROMOSOME-SPECIFIC MARKERS REVEAL CONSERVED LINKAGE GROUPS IN SPITE OF EXTENSIVE CHROMOSOMAL SIZE VARIATION IN TRYPANOSOMA-CRUZI
Molecular and biochemical parasitology
IDENTIFICATION OF A SUPERNUMERARY MARKER DERIVED FROM CHROMOSOME-17 USING FISH
American journal of medical genetics
SUPERNUMERARY CHROMOSOME MARKER-(1) IN A DEVELOPMENTALLY DELAYED CHILD
American journal of medical genetics
MARKER CHROMOSOME-21 IDENTIFIED BY MICRODISSECTION AND FISH
American journal of medical genetics
IDENTIFICATION OF SEX-CHROMOSOME MARKERS USING FLUORESCENCE IN-SITU HYBRIDIZATION (FISH)
Revista de Investigacion Clinica
A SMALL SUPERNUMERARY MARKER CHROMOSOME-X IDENTIFIED BY IN-SITU HYBRIDIZATION
Clinical genetics
COMPARATIVE GENOMIC HYBRIDIZATION AS A TOOL TO DEFINE 2 DISTINCT CHROMOSOME-12-DERIVED AMPLIFICATION UNITS IN WELL-DIFFERENTIATED LIPOSARCOMAS
Genes, chromosomes & cancer
CELL-PERMEABILITY OF PLACENTA IN MAMMAL AND ITS GENETIC EFFECT
Chinese Science Bulletin
THE HUMAN NOTCH1, NOTCH2, AND NOTCH3 GENES ARE LOCATED AT CHROMOSOME POSITIONS 9Q34, 1P13-P11, AND 19P13.2-P13.1 IN REGIONS OF NEOPLASIA-ASSOCIATED TRANSLOCATION
Genomics