Results 171 to 180 of about 7,265 (207)

Typical Clinical Presentation of an Autosomal Dominant Polycystic Kidney Disease Patient with an Atypical Genetic Pattern. [PDF]

Genes (Basel)
Marzano N, Caprara C, Reis T, Montin DP, Pretto SM, Rigato M, Giuliani A, Gastaldon F, Mancini B, Ronco C, Zanella M, Zuccarello D, Corradi V.   +12 more
europepmc   +1 more source

Management of Thrombosis in a Patient with Three Thrombophilic Disorders. [PDF]

J Blood Med
Marco-Rico A, Mantilla Pinilla AJ, Corral J, Marco-Vera P.   +3 more
europepmc   +1 more source

Identification of modifier gene variants overrepresented in familial hypomagnesemia with hypercalciuria and nephrocalcinosis patients with a more aggressive renal phenotype. [PDF]

PLoS Genet
Vall-Palomar M, Torchia J, Morata J, Durán M, Tonda R, Ferrer M, Sánchez A, Cantero-Recasens G, Ariceta G, Meseguer A, Martinez C.   +10 more
europepmc   +1 more source

Testis Molecular Pathways in CAIS Unveil Testosterone/Estradiol on Germ Cell Tumor Risk in Non-Obstructive Azoospermia.

J Clin Endocrinol Metab
Alfano M, Tascini AS, Pederzoli F, Venegoni C, Locatelli I, Lesma A, Fallara G, Boeri L, Pozzi E, Negri F, Colecchia M, Pontillo M, Montorsi F, Garcia-Manteiga JM, Salonia A.   +14 more
europepmc   +1 more source

High Prevalence ofSOD1Pathogenic Variants in the UK Biobank: Implications for Early Intervention in ALS

Gagliardi D, Villella C, Zanovello M, Iacobelli V, Corti S, Comi GP, Fratta P, Fratta P, Houlden H, Tucci A, Ronchi D.   +10 more
europepmc   +1 more source

Some of the next articles are maybe not open access.

Related searches:

Clinical relevance of heterozygosis for aceruloplasminemia

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2019
Aceruloplasminemia is a rare form of brain iron overload of autosomal recessive inheritance that results from mutations in the CP gene, encoding the iron oxidase ceruloplasmin. Homozygous aceruloplasminemia causes progressive neurodegenerative disease, anemia, and diabetes, and is usually diagnosed late in life upon investigation of anemia, high ...
Marina Dorigatti Borges, Dulcineia Martins de Albuquerque, Carolina Lanaro, Fernando Ferreira Costa, Kleber Yotsumoto Fertrin   +4 more
openaire   +2 more sources

Heterozygosis and recombination of bacteriophage λ

Virology, 1962
Abstract In the yield from bacteria simultaneously infected with two different mutants of λ phages, heterozygous particles are found which, in a subsequent cycle of multiplication, segregate two different genotypes. The heterozygotes are extremely rare (less than 10 −4 ) in normal growth conditions; after strong UV irradiation of the host bacteria ...
G, KELLENBERGER, M L, ZICHICHI, H T, EPSTEIN   +2 more
openaire   +2 more sources

Search of heterozygosis in quantitative characters

Annals of Human Genetics, 1978
SummaryA method is described of searching for heterozygotes in a quantitative character, based on the idea that heterozygotes have more variable children than homozygotes. The variability in a set of sibs is therefore partitioned into components from the mother and father, using a least squares technique; a large component indicates a probably ...
C A, Smith, D Z, Loesch, A, Bener
openaire   +2 more sources

Heterozygosis and Pathogenicity of Cryptococcus neoformans AD-Hybrid Isolates

Mycopathologia, 2011
Nineteen Cryptococcus neoformans AD-hybrid isolates were investigated to assess whether hybrid genomic background could affect virulence in a mouse model. The level of heterozygosity of each strain was analyzed using primers specific for allele A and D of 15 polymorphic genes.
M. Cogliati, F. Barchiesi, E. Spreghini, A. M. Tortorano   +3 more
openaire   +2 more sources

The theory of inbreeding with forced heterozygosis

Journal of Genetics, 1935
When a foreign gene is being bred into a pure line, or when a population with a lethal gene, incomplete sex linkage, heterostylism, or self-sterility is being inbred, the population is kept heterozygous for a particular gene or chromosome segment, but otherwise inbred.
M. S. Bartlett, J. B. S. Haldane
openaire   +1 more source