Per ulteriori informazioni selezionare i riferimenti di interesse.
Eradication of a dysfunctional HLA-haploidentical T cell system by a second HLA-identical BMT
BONE MARROW TRANSPLANTATION
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
Nijmegen breakage syndrome
ARCHIVES OF DISEASE IN CHILDHOOD
Detailed marker chromosome analysis in cell line U-BLC1, established from transitional-cell carcinoma of the bladder
INTERNATIONAL JOURNAL OF CANCER
Mapping of members of the low-copy-number repetitive DNA sequence family chAB4 within the p arms of human acrocentric chromosomes: characterization of Robertsonian translocations
CHROMOSOME RESEARCH
FURTHER OBSERVATIONS OF TRUE MOSAIC TRISOMY-17 ASCERTAINED IN AMNIOTIC-FLUID CELL-CULTURES
Prenatal diagnosis
False-negative findings in chorionic villus sampling. An experimental approach and review of the literature
PRENATAL DIAGNOSIS
PURE PANCREATIC-JUICE FROM PATIENTS WITH CHRONIC-PANCREATITIS HAS AN IMPAIRED ANTIBACTERIAL ACTIVITY
International journal of pancreatology
XX-AGONADISM IN A FETUS WITH MULTIPLE DYSRAPHIC LESIONS - A NEW SYNDROME
American journal of medical genetics
CUTIS-TRICOLOR - CONGENITAL HYPERPIGMENTED AND HYPOPIGMENTED MACULES ASSOCIATED WITH A SPORADIC MULTISYSTEM BIRTH-DEFECT - AN UNUSUAL EXAMPLE OF TWIN SPOTTING
Journal of Medical Genetics
A CASE OF APPARENT TRISOMY-21 WITHOUT THE DOWNS-SYNDROME PHENOTYPE
Journal of Medical Genetics
XP-DUPLICATIONS WITH AND WITHOUT SEX REVERSAL
Human genetics
X AUTOSOME TRANSLOCATION IN 3 GENERATIONS ASCERTAINED THROUGH AN INFANT WITH TRISOMY 16P DUE TO FAILURE OF SPREADING OF X-INACTIVATION/
American journal of medical genetics
IS A DEFECTIVE ANTIMICROBIAL ACTIVITY OF PURE PANCREATIC-JUICE (PPJ) A SPECIFIC FEATURE OF CHRONIC-PANCREATITIS
Gastroenterology
BACTERIAL TRANSLOCATION IN THE COURSE OF ACUTE-PANCREATITIS - BENEFICIAL ROLE OF NONABSORBABLE ANTIBIOTICS AND LACTITOL ENEMAS
Digestion
AGONADISM IN 2 SISTERS WITH XY GONOSOMAL CONSTITUTION, MENTAL-RETARDATION, SHORT STATURE, SEVERELY RETARDED BONE-AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS - A NEW AUTOSOMAL RECESSIVE SYNDROME
American journal of medical genetics
DIAGNOSIS OF RETINOBLASTOMA IN A PRESYMPTOMATIC STAGE AFTER DETECTIONOF INTERSTITIAL CHROMOSOMAL DELETION 13Q
Ophthalmic genetics
INTESTINAL METAPLASIA ASSOCIATED TO CHRONIC GASTRITIS AND GASTRIC-CANCER - A COMPARATIVE-STUDY OF PROLIFERATIVE KINETICS
Medical science research
FEASIBILITY OF THYMIDINE LABELING INDEX ON FINE-NEEDLE ASPIRATES FROMBREAST-CANCER - COMPARISON WITH SURGICAL SAMPLES
Anticancer research
CHARACTERISTICS OF THE TRANSMISSION OF THE FMR1 GENE FROM CARRIER FEMALES IN A PROSPECTIVE SAMPLE OF CONCEPTUSES
American journal of medical genetics
MAPPING IMMUNOGLOBULIN GENE-RELATED DNA PROBES TO THE CENTRAL REGION OF NORMAL AND PERICENTRICALLY INVERTED HUMAN CHROMOSOME-2
Genomics
MOLECULAR ANALYSIS OF MUTATIONS IN THE GENE FMR-1 SEGREGATING IN FRAGILE X-FAMILIES
Human genetics
CYTOGENETIC DIAGNOSES AFTER CHORIONIC VILLUS SAMPLING ARE LESS RELIABLE IN VERY-HIGH-RISK OR VERY-LOW-RISK PREGNANCIES
Prenatal diagnosis
DUP(1Q)(Q42-]QTER) SYNDROME - CASE-REPORT AND REVIEW OF LITERATURE
American journal of medical genetics
MATHEMATICAL-MODELING OF THE ELECTROPHORETIC DISTRIBUTION OF IGG AND THE DETECTION OF CLONOTYPE RESTRICTIONS
Clinical chemistry