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https://www.readbyqxmd.com/read/16673864/-agenesis-of-the-corpus-callosum-in-a-premature-infant-associated-with-langdon-down-syndrome
#1
Gordana Velisavljev-Filipović
INTRODUCTION: Agenesis of the corpus callosum is an abnormality of the part of the brain connecting the two cerebral hemispheres. It can be partial, complete or atypical. The fibers from the cerebral cortex project towards the homotypical region of the contra-lateral cortex passing through the corpus callosum, and crossing the middle line. The absence of corpus callosum causes failure of information transfer from one hemisphere to the other. Children with this anomaly present with learning disabilities and trouble with memorizing facts...
November 2005: Medicinski Pregled
https://www.readbyqxmd.com/read/13380522/-familial-spasmodic-paraplegia-and-spastic-paraplegic-atony-recessive-pathological-character-and-its-pathogenesis-by-consanquinity
#2
D BRAGE
No abstract text is available yet for this article.
September 27, 1956: La Semana Médica
https://www.readbyqxmd.com/read/6446853/evidence-for-genetic-control-of-nondisjunction-in-man
#3
O S Alfi, R Chang, S P Azen
Data on factors associated with the occurrence of Down syndrome in a highly inbred population were evaluated to investigate the presence of a genetic control of nondisjunction in man. In Kuwait, close consanguinity occurs in 40% of marriages. In its main obstetric hospital, 20 trisomic Down babies out of 11,614 singleton births were delivered over a 12-month period. Chi-square analyses indicate the occurrence of Down syndrome to be linked to two independent factors: consanquinity of parents and maternal age...
July 1980: American Journal of Human Genetics
https://www.readbyqxmd.com/read/3680515/apolipoprotein-ciist-michael-familial-apolipoprotein-cii-deficiency-associated-with-premature-vascular-disease
#4
P W Connelly, G F Maguire, J A Little
A 60-yr-old woman and her brother, products of a consanquinous mating, were chylomicronemic. The chylomicronemia in both subjects was found to be due to the absence of functional apoCII. A mutant form, designated apoCIISt. Michael (apoCIIs), was identified by two-dimensional electrophoresis and Western blot using anti-apoCII antiserum. The isoelectric point of apoCIIs was similar to that of normal apoCII, but its apparent molecular weight was 3,000 greater. Tryptic peptides of apoCIIs were identified that had retention times in reverse-phase high pressure liquid chromatography and amino acid compositions indistinguishable from that of residues 1 to 48 and 51 to 55 of normal apoCII...
December 1987: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/418714/-ketotic-hiperglycinemia-one-case-of-possible-propionic-acidemia-author-s-transl
#5
S Sanz, R Laplana, P Sanjurjo, A Vallo, J R Soriano
Authors present the first case to be observed in Spain of neonatal propionic acidemia. The subject is a newborn with symtoms free interval, family consanquinity and siblings who have died prematurely with a similar picture of hyperventilation "sine materiae", progressive metabolic acidosis without anionic discrepancy and terminal coma. The possibility that it might be a question of other metabolopathies is under discussion, but bio-chemical examination, with discovery of large quantities of propionic acid in urine (51 mcg...
January 1978: Anales Españoles de Pediatría
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