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Fetal Holoprosencephaly: Associated Malformations and Chromosomal Defects
Fetal Diagnosis and Therapy, 1990In 38 fetuses with holoprosencephaly, cordocentesis and blood karyotyping was performed. The karyotype was normal in all 12 cases with isolated holoprosencephaly, and in all 5 with holoprosencephaly and facial defects only. In contrast, 11 of the 21 (52%) fetuses with extrafacial malformations were chromosomally abnormal [47xx+13, n = 6; 47xy+13, n = 2;
S M, Berry +3 more
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Primary ovarian insufficiency: X chromosome defects and autoimmunity
Journal of Autoimmunity, 2009Premature ovarian failure (POF) is a primary ovarian defect characterized by absent menarche or premature depletion of ovarian follicles before the age of 40 years. However, in several instances the distinction between definitive or intermittent POF may be difficult on clinical bases, therefore the more appropriate term Primary Ovarian Insufficiency ...
L. Persani +3 more
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Linking chromosome defects with cancer
JAMA: The Journal of the American Medical Association, 1983"I am thoroughly exhausted from the excitement." The speaker: H. John Evans, MB, chair, Medical Research Council Clinical and Population Cytogenetics Unit, Western General Hospital, Edinburgh, Scotland. The occasion: a summary of a recent two-day symposium in Chicago entitled "Chromosomes and Cancer: From Molecules to Man." The symposium, organized by
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Fetal Renal Defects: Associated Malformations and Chromosomal Defects
Fetal Diagnosis and Therapy, 1992During a 6-year period (1985-1990) blood karyotyping was performed in 682 fetuses with renal defects. There were: 276 fetuses with mild hydronephrosis; 206 with moderate/severe hydronephrosis; 173 with multicystic dysplasia, and 27 with renal agenesis.
K H, Nicolaides +4 more
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Fetal Nuchal Oedema: Associated Malformations and Chromosomal Defects
Fetal Diagnosis and Therapy, 1992During an 8-year period, oedema in the dorsal cervical region that produces a characteristic tremor on ballotement of the fetal head (nuchal oedema) was observed in 145 (7%) of the 2,086 fetuses that underwent karyotyping in our unit because of fetal malformations and/or growth retardation.
K H, Nicolaides +3 more
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Congenital Glaucoma Associated With a Chromosomal Defect
Archives of Ophthalmology, 1981A pair of eyes with congenital glaucoma, one treated by goniotomy, was examined by light and electron microscopy. Examination of the drainage angles afforded the opportunity to compare anatomic changes in the treated eye with the surgically unaltered tissue of the fellow eye.
W L, Broughton +2 more
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Chromosomal Abnormalities II: Sex Chromosome Defects
Hospital Practice, 1970The two sex chromosomes appear to be responsible for more pathology and disease than the remaining 44 chromosomes of the human complement combined. This, paradoxically, is because the damage they do is less severe, more compatible with viability, than that resulting from autosomal anomalies.
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Specific fine chromosomal defects in cancer: An overview
Human Pathology, 1981More than 2 tumors have been found to have a specific chromosomal abnormality. In acute nonlymphocytic and acute lymphocytic leukemia, subgroups have also been identified with consistent chromosomal defects and different prognoses and responses to treatment.
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Hereditary Renal Carcinoma and Chromosomal Defects
New England Journal of Medicine, 1982A F, Kantor +8 more
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Edward syndrome with multiple chromosomal defects
The Indian Journal of Pediatrics, 1989B V, Bhat +5 more
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