نتایج جستجو برای: 13 families
تعداد نتایج: 449872 فیلتر نتایج به سال:
The autosomal dominant inheritance of bicommissural aortic valve (BAV) (Online Mendelian Inheritance in Man #109730) in some families is well-documented; however, the inheritance of BAV with thoracic aortic aneurysm (TAA) is less clear. Whether the aneurysm is secondary to hemodynamic perturbation related to the valve abnormality or a primary manifestation of the disorder remains controversial....
The segregation of chromosomes 13 distinguishable by Q band fluorescent polymorphisms has been studied in three families with retinoblastoma. The recombination fraction for two of these families and four families previously reported did not differ significantly from 50%. Since a high recombination fraction has been predicted from chiasma frequency between the centromere of chromosome 13 and 13q...
BACKGROUND Homozygosity mapping has facilitated the identification of the genetic causes underlying inherited diseases, particularly in consanguineous families with multiple affected individuals. This knowledge has also resulted in a mutation dataset that can be used in a cost and time effective manner to screen frequent population-specific genetic variations associated with diseases such as in...
in this thesis our aim is to construct vector field in r3 for which the corresponding one-dimensional maps have certain discontinuities. two kinds of vector fields are considered, the first the lorenz vector field, and the second originally introced here. the latter have chaotic behavior and motivate a class of one-parameter families of maps which have positive lyapunov exponents for an open in...
To define members of previously unknown VH gene families, a channel catfish immunoglobulin heavy chain cDNA library was constructed and screened with probes specific for the seven known catfish VH families. Reiterative screening and sequence studies defined six new VH families, designated VH8-VH13, which brings the total number of VH families in the catfish to 13. This is the highest number of ...
Recently we proposed a novel method of alignment-alignment comparison, COMPASS (the tool for COmparison of Multiple Protein Alignments with Assessment of Statistical Significance). Here we present several examples of the relations between PFAM protein families that were detected by COMPASS and that lead to the predictions of presently unresolved protein structures. We discuss relatively straigh...
this study aims to investigate value conflicts between mothers and their daughters among families and influential factors on this conflict in yazd city. this study adopted a survey method and a questionnaire was used that its validity through construct validity (factor analysis) and its reliability by cronbach alpha were measured. the population of this study consists of all yazdian families th...
To determine the diagnostic value of massive parallel sequencing of a panel of known cardiac genes in familial nonsyndromic congenital heart defects (CHD), targeted sequencing of the coding regions of 57 genes previously implicated in CHD was performed in 36 patients from 13 nonsyndromic CHD families with probable autosomal dominant inheritance. Following variant analysis and Sanger validation,...
The RET proto-oncogene encodes a receptor tyrosine kinase expressed in neural crest derived tissues. Germline mutations in the RET proto-oncogene are responsible for three different dominantly inherited cancer syndromes: multiple endocrine neoplasia type 2A (MEN 2A), type 2B (MEN 2B), and familial medullary thyroid carcinoma (FMTC). MTC can also occur sporadically. Molecular characterisation of...
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