Results 351 to 360 of about 4,753,986 (376)

Causal Genetic Variants in Stillbirth

Obstetric Anesthesia Digest, 2021
Background In the majority of cases, the cause of stillbirth remains unknown despite detailed clinical and laboratory evaluation.
Kate E. Stanley, J. Giordano, V. Thorsten, Christie Buchovecky, Amanda Thomas, M. Ganapathi, Jun Liao, Avinash V Dharmadhikari, Anya Revah-Politi, M. Ernst, Natalie Lippa, Halie Holmes, G. Povysil, Joseph Hostyk, C. Parker, Robert L. Goldenberg, G. Saade, D. Dudley, H. Pinar, Carol J. R. Hogue, Uma M. Reddy, Robert M. Silver, Vimla Aggarwal, Andrew S. Allen, R. Wapner, David B. Goldstein   +25 more
semanticscholar   +1 more source

Genetic variants of phage T3

Virology, 1961
Abstract Variants of phage T3 have been found that differ with regard to antigenic, morphological, and host range properties. One of these phages, designated as T3B, elicits the production of antibodies incapable of neutralizing another T3 strain, designated as T3C. Antisera against T3C, however, can inactivate both T3B and T3C.
A, EISENSTARK, O, MAALOE, A, BIRCH-ANDERSEN   +2 more
openaire   +2 more sources

Cystinuria: A New Genetic Variant

Clinical Science, 1976
1. A family is reported with an unusual type of cystinuria. 2. The propositus presented with a cystine renal stone; the renal tubular reabsorption of cystine was grossly abnormal but the tubular reabsorption of ornithine, lysine and arginine was only slightly less than normal. 3.
A D, Stephens, D, Perrett
openaire   +2 more sources

On Mouse Complement: Genetic Variants

The Journal of Immunology, 1969
Abstract There are a number of polymorphic genes in mice which control the expression of hemolytic complement levels. The levels of hemolytic complement vary greatly within a non-inbred strain, CF-1, and there is a characteristic level of hemolytic complement activity for each inbred strain. Studies of progeny of crosses between selected
Rosenberg, L T, Tachibana, D K
openaire   +2 more sources

Genetic variant of Stickler's syndrome

Archivos de la Sociedad Española de Oftalmología (English Edition), 2018
Three myopic components of a same family came for study because presented severely degraded vitreous, equatorial membranes, retinal pigment epithelium hyperplasia, vascular sheathed and sclerosis of peripheral predominance. A genetic study confirmed the diagnosis of Stickler syndrome with a variant in the mutation of the COL2A1 gene.Stickler's syndrome
P, Rocha Cabrera, L, Cordovés Dorta, M A, Serrano García, M J, Losada Castillo, J A, Abreu Reyes, M, Gómez Resa   +5 more
openaire   +2 more sources

A New Genetic Variant for Chido

Vox Sanguinis, 1984
A new and distinct partial inhibition pattern was observed for Chido during routine typing; it is found in 3% of random samples, shows recessive inheritance and is linked to HLA. Polyspecificity in anti-Ch reagents, selected to detect partial inhibition, is demonstrated.
openaire   +2 more sources

SPINK1 Genetic Variants in Pancreatitis.

SMART-MD Journal of Precision Medicine
Genetic variants disrupting the expression or function of the Serine Protease Inhibitor, Kazal Type 1 (SPINK1) gene—encoding the pancreatic secretory trypsin inhibitor (PSTI, also called SPINK1)—elevate the risk ofpancreatitis and pancreatic cancer. This
Maham Waqar, David Whitcomb, V. Rebours
semanticscholar   +1 more source

Rare genetic variants and schizophrenia

Nature Neuroscience, 2016
A study reports mutations in a histone methyltransferase gene, SETD1A, in schizophrenia patients and demonstrates that tens of thousands of people must be screened to provide robust evidence of a gene's involvement in schizophrenia.
openaire   +2 more sources

Functional effect of the R110Q IL13 genetic variant alone and in combination with IL4RA genetic variants

Journal of Allergy and Clinical Immunology, 2004
IL-13 is a key mediator of allergic asthma. IL-13 mediates its effects via its receptor, a heterodimer composed of IL-4R alpha and IL-13R alpha1. Polymorphic variants of both IL-13 and IL-4R alpha have been shown to be associated with atopy.We examined the functional consequences of the Q110 IL-13 variant in vitro and in vivo to determine whether it ...
Weiguo, Chen, Mark B, Ericksen, Linda S, Levin, Gurjit K, Khurana Hershey   +3 more
openaire   +2 more sources

Genetic variants in adult liver diseases

Zeitschrift für Gastroenterologie, 2015
In the last decades, understanding of genetic variants contributing to liver disease development has considerably improved through novel genotyping techniques. Genetic variants of single genes are known to be decisive for the development of monogenetic liver diseases of varying severity.
C, Dröge, D, Häussinger, V, Keitel
openaire   +2 more sources