Results 81 to 90 of about 108,171 (302)

Identification and Characterization of BRCA1 and BRCA2 Founder Mutations [PDF]

, 2012
A large number of cancer predisposing BRCA1/BRCA2 mutations have been reported, with a wide variety among populations. In some restricted groups, specific germline mutations in these tumor suppressor genes have been found with high predominance, due to a
Iacobelli, S, Sidoni, T, S. Iacobelli, Ficorella, C, G. Giannini, RICEVUTO, Enrico, Cannita, K, V. Cocciolone, Ricevuto, E., RUSSO, Antonio, Cocciolone, V, Baudi, F, C. Ficorella, K. Cannita1, F. Baudi, 8.0. T. Sidoni, A. Russo, Giannini, G   +17 more
core   +1 more source

Análisis de isonimia entre poblaciones del noroeste de Colombia

Biomédica: revista del Instituto Nacional de Salud, 2006
Introducción. La utilización de la frecuencia de apellidos como marcadores de linajes paternos ha permitido caracterizar poblaciones. Los principios de isonimia se han empleado para determinar el grado de estructuración genética, las tasas de migraciones
Gabriel Bedoya, Jenny García, Patricia Montoya, Winston Rojas, Maria Eugenia Amézquita, Iván Soto, Maria Cecilia López, Jorge Ospina-Duque, Andrés Ruiz-Linares   +8 more
doaj   +1 more source

Dietary Protein Intake and Peritoneal Protein Losses in Peritoneal Dialysis Patients

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Peritoneal dialysis (PD) patients lose protein in their waste dialysate, potentially increasing their risk for malnutrition. We wished to determine whether there was any association between losses and dietary protein intake (DPI). Methods DPI was assessed from 24‐h dietary recall using Nutrics software.
Haalah Shaaker, Andrew Davenport
wiley   +1 more source

Phonemic diversity supports a serial founder effect model of language expansion from Africa.

, 2011
Human genetic and phenotypic diversity declines with distance from Africa, as predicted by a serial founder effect in which successive population bottlenecks during range expansion progressively reduce diversity, underpinning support for an African ...
Atkinson, Quentin, Quentin D. Atkinson
core   +1 more source

Lessons from Genetic Studies of Primary Immunodeficiencies in a Highly Consanguineous Population

Frontiers in Immunology, 2017
During the last decades, the study of primary immunodeficiencies (PIDs) has contributed tremendously to unravel novel pathways involved in a variety of immune responses. Many of these PIDs have an autosomal recessive (AR) mode of inheritance.
Mohamed-Ridha Barbouche, Mohamed-Ridha Barbouche, Najla Mekki, Najla Mekki, Meriem Ben-Ali, Imen Ben-Mustapha, Imen Ben-Mustapha   +6 more
doaj   +1 more source

Effects of the Fluid Replacement Method During Online Hemodiafiltration on the Solute Removal Performance and Biocompatibility Using the Asymmetric Cellulose Triacetate Membrane

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Pre‐dilution online hemodiafiltration (Pre‐HDF) is predominantly used in Japan, whereas post‐dilution online HDF (Post‐HDF) is more common in Europe. An asymmetric cellulose triacetate (ATA) membrane may improve biocompatibility.
Kenji Sakurai, Yoshitaka Kurihara, Fumi Yamauchi, Hiromi Hosoya, Takeshi Saito   +4 more
wiley   +1 more source

High Prevalence of Autosomal Recessive Alport Syndrome in Roma Population of Eastern Slovakia

Biomedicines
Background/Objectives: Alport syndrome (AS) predominantly presents with X-linked inheritance worldwide. However, the epidemiological landscape remains poorly characterized, particularly among ethnic minority groups like the Roma minority in Slovakia. Our
Gabriel Koľvek, Lucia Klimčáková, Gabriela Hrčková, Jozef Židzik, Ľudmila Podracká, Tatiana Baltesová, Kristína Kubejová, Jaroslav Rosenberger, László Barkai   +8 more
doaj   +1 more source

A Bibliometric Analysis of Publications in Uremic Toxins From 1991 to 2024

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Uremic toxins are a growing area of research in nephrology, with significant implications in the progression and treatment of chronic kidney disease (CKD) and the management of end‐stage kidney disease (ESKD). This bibliometric analysis aims to evaluate the global research trends, key contributors, and the impact of publications in ...
Yuh‐Shan Ho, Karim M. Soliman, Wisit Cheungpasitporn, Wannasit Wathanavasin, Ahmed Daoud, Ahmed I. Kamal, Balázs Szamosfalvi, Tibor Fülöp   +7 more
wiley   +1 more source

The First Deal: The Division of Founder Equity in New Ventures [PDF]

This paper examines the division of founder shares in entrepreneurial ventures, focusing on the decision of whether or not to divide the shares equally among all founders. To motivate the empirical analysis we develop a simple theory of costly bargaining,
Noam Wasserman, Thomas F. Hellmann
core  

BRCA1/2 mutation spectrum in Armenian patients with breast and ovarian cancers

Сибирский онкологический журнал
The aim of the study was to compare the spectra of pathogenic BRCA1 and BRCA2 variants in patients with hereditary breast cancer (BC) and ovarian cancer (OC) from two groups of ethnic Armenians: Yerevan and cities of southern Russia.Material and Methods.
Y. V. Belysheva, E. K. Bakaeva, A. R. Venina, A. A. Romanko, G. A. Raskin, A. P. Sokolenko, E. N. Suspitsin, A. A. Avetisyan, S. V. Orlov, E. N. Imyanitov   +9 more
doaj   +1 more source