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FISH analysis of fetal nucleated red blood cells from CVS washings in cases of aneuploidy
PRENATAL DIAGNOSIS
Identification of an unbalanced cryptic translocation between the chromosomes 8 and 13 in two sisters with mild mental retardation accompanied by mild dysmorphic features
EUROPEAN JOURNAL OF HUMAN GENETICS
Interstitial deletion of the long arm of chromosome 2: a clinically recognizable microdeletion syndrome?
CLINICAL DYSMORPHOLOGY
Four DAZ genes in two clusters found in the AZFc region od the human Y chromosome
GENOMICS
Genetic analysis of fetal nucleated red blood cells from CVS washings
PRENATAL DIAGNOSIS
An integrated map of chromosome 18 CAG trinucleotide repeat loci
EUROPEAN JOURNAL OF HUMAN GENETICS
A patient with a de novo t(6;9) and an interstitial duplication of (9)(q21.2q22.1)
CLINICAL DYSMORPHOLOGY
Isolation and characterization of the human SCP2 cDNA and chromosomal localization of the gene
MAMMALIAN GENOME
Enrichment, identification and analysis of fetal cells from maternal blood: Evaluation of a prenatal diagnosis system
PRENATAL DIAGNOSIS
First-trimester non-invasive prenatal diagnosis of triploidy
PRENATAL DIAGNOSIS
Molecular analysis of a translocation (6;11)(p21;q25) in a girl with Jacobsen syndrome
AMERICAN JOURNAL OF MEDICAL GENETICS
Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype
JOURNAL OF MEDICAL GENETICS
CHROMOSOME-STUDIES IN 1792 MALES PRIOR TO INTRA-CYTOPLASMIC SPERM INJECTION - THE DUTCH EXPERIENCE
European journal of human genetics
SUBTELOMERIC CHROMOSOMAL REARRANGEMENTS AS A CAUSE FOR MENTAL-RETARDATION
European journal of human genetics
Repeated unbalanced offspring due to a familial translocation involving chromosomes 5 and 6
AMERICAN JOURNAL OF MEDICAL GENETICS
Progression from colorectal adenoma to carcinoma is associated with non-random chromosomal gains as detected by comparative genomic hybridisation
JOURNAL OF CLINICAL PATHOLOGY
COMPARATIVE GENOMIC HYBRIDIZATION REVEALS NONRANDOM CHROMOSOMAL-ABERRATIONS TO BE ASSOCIATED WITH PROGRESSION FROM COLORECTAL ADENOMA TO CARCINOMA
Gastroenterology
FISH MAPPING OF 3 AMMONIA METABOLISM GENES (GLUL, CPS1, GLUD1) IN RAT, AND THE CHROMOSOMAL LOCALIZATION OF GLUL IN HUMAN AND CPS1 IN MOUSE
Mammalian genome
CELSR1, A NEURAL-SPECIFIC GENE ENCODING AN UNUSUAL 7-PASS TRANSMEMBRANE RECEPTOR, MAPS TO MOUSE-CHROMOSOME-15 AND HUMAN-CHROMOSOME 22QTER
Genomics
HUMAN SYNAPTONEMAL COMPLEX PROTEIN-1 (SCP1) - ISOLATION AND CHARACTERIZATION OF THE CDNA AND CHROMOSOMAL LOCALIZATION OF THE GENE
Genomics
TANDEM DUPLICATION OF 11P12-P13 IN A CHILD WITH BORDERLINE DEVELOPMENT DELAY AND EYE ABNORMALITIES - DOSE-EFFECT OF THE PAX6 GENE-PRODUCT
American journal of medical genetics
COMMON MISSENSE MUTATION G1528C IN LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY - CHARACTERIZATION AND EXPRESSION OF THE MUTANT PROTEIN, MUTATION ANALYSIS ON GENOMIC DNA AND CHROMOSOMAL LOCALIZATION OF THE MITOCHONDRIAL TRIFUNCTIONAL PROTEIN ALPHA-SUBUNIT GENE
The Journal of clinical investigation
2 SUPERNUMERARY MARKER CHROMOSOMES, DERIVED FROM CHROMOSOME-6 AND CHROMOSOME-9, IN A BOY WITH MILD DEVELOPMENTAL DELAY
Clinical genetics
SUPERNUMERARY RING CHROMOSOME-20 CHARACTERIZED BY FLUORESCENCE IN-SITU HYBRIDIZATION
Clinical genetics
PHYSICAL MAPPING OF 3 CANDIDATE TUMOR-SUPPRESSOR GENES RELATIVE TO BECKWITH-WIEDEMANN-SYNDROME-ASSOCIATED CHROMOSOMAL BREAKPOINTS AT 11P15.3
Cytogenetics and cell genetics
MULTIPLE GENETIC-LOCI WITHIN 11P15 DEFINED BY BECKWITH-WIEDEMANN SYNDROME REARRANGEMENT BREAKPOINTS AND SUBCHROMOSOMAL TRANSFERABLE FRAGMENTS
Proceedings of the National Academy of Sciences of the United Statesof America
FURTHER DELINEATION OF THE PARTIAL PROXIMAL TRISOMY 10Q SYNDROME
Journal of Medical Genetics
EXPRESSION CLONING AND CHROMOSOMAL MAPPING OF THE LEUKOCYTE ACTIVATION ANTIGEN CD97, A NEW 7-SPAN TRANSMEMBRANE MOLECULE OF THE SECRETIN RECEPTOR SUPERFAMILY WITH AN UNUSUAL EXTRACELLULAR DOMAIN
The Journal of immunology
TRISOMY-3 MOSAICISM ON CVS - CASE-REPORT WITH LITERATURE-REVIEW AND PROPOSITIONS FOR INVESTIGATION AND COUNSELING
Clinical genetics
FLOW CYTOMETRIC DETECTION OF CHROMOSOME-ABNORMALITIES BY MEASURING CENTROMERIC INDEX, DNA CONTENT, AND DNA-BASE COMPOSITION
Analytical cellular pathology
AN INTEGRATED PHYSICAL MAP OF 210 MARKERS ASSIGNED TO THE SHORT ARM OF HUMAN-CHROMOSOME-11
Genomics
PARTIAL TRISOMY AND MONOSOMY 8P DUE TO INVERSION DUPLICATION
Clinical genetics
MOLECULAR CYTOGENETIC ANALYSIS OF TERM PLACENTAE SUSPECTED OF MOSAICISM USING FLUORESCENCE IN-SITU HYBRIDIZATION
Prenatal diagnosis
THE IMPORTANCE OF DNA ANALYSIS IN SPORADIC ANIRIDIA
Acta ophthalmologica