Within the last year
Within the past 3 years
1 - 10 of 12 articles
Serum ceruloplasmin values of <21.0 mg/100 ml in males or <23.0 mg/100 ml in females were observed in 14 out of 156 otherwise healthy members of a pedigree. The hypoceruloplasminemia segregated in a fashion suggesting that the affected individuals are heterozygous for a mutant gene that results...
We have identified trisomy 13 in two additional patients with hematologic malignancies involving the hematopoietic stem cell: a 75–year–old female with acute myelocytic leukemia and a 64–year–old female with agnogenic myelofibrosis and myeloid metaplasia. Chromosome analysis of the direct...
A path analysis of published reports on family resemblance reveals an important role for genetic factors in all lipids and lipoproteins, with no evidence of a discrepancy between twins and other relatives (which might be due to dominance or epistasis) nor between studies which used enrivonmental...
Two cases of severely malformed infants with abnormal fetal images on B–scan sonography and markedly elevated amniotic fluid AFP are presented. There was no evidence of neural tube anomalies. The importance of an amniocentesis and AFP in pregnancies with an abnormal fetal image on B–scan...
Conflicting reports on the association between platelet MAO activity and schizophrenia prompted a critical review and determinations on identical samples at one laboratory in Sweden and one in the USA. Samples originated from eight schizophrenics and 27 relatives belonging to a large pedigree,...
A survey of 8,084 adult Saudi male employment applicants yielded 872 with the sickle cell trait (AS) and 51 with sickle cell disease. Based on the known distribution of hemoglobin S genes between oasis and non–oasis populations in Saudi Arabia, and on calculation of the expected number of...
The Bloom's Syndrome Registry was published in this journal in 1977. Now, in the first in a series of progress reports, recent accessions to the Registry are recorded, new instances of neoplasia are listed, and recent clinical observations and experimental results of general interest are cited.
Publications involving patients with any abnormality of chromosome 8 have been reviewed in detail. For the time period involved, a total of 277 cases were found, including 74 instances of congenital aneuploidy, 130 instances of acquired aneuploidy, 38 instances of congenital rearrangements, and...
This report compares the pathogenetic influences of selective deletion and triplication of chromosome 13 derived from a familial 12; 13 insertional translocation. In the proband a heritable chromosomal basis for his bilateral retinoblastomas is established (46, XY, del (13) (pter →...
Read and print from thousands of top scholarly journals.
Sign up with Facebook
Sign up with Google
Already have an account? Log in
Save this article to read later. You can see your Read Later on your DeepDyve homepage.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Sign Up Log In
To subscribe to email alerts, please log in first, or sign up for a DeepDyve account if you don’t already have one.
To get new article updates from a journal on your personalized homepage, please log in first, or sign up for a DeepDyve account if you don’t already have one.