Results 61 to 70 of about 3,708 (168)

The Utility of Whole Exome Sequencing in Fetuses With Isolated Increased Nuchal Translucency

Molecular Genetics &Genomic Medicine, Volume 13, Issue 12, December 2025.
In this work, we evaluated the utility of whole exome sequencing in fetuses with isolated increased nuchal translucency. Our analysis revealed a low diagnostic yield (2.5%) for prenatal WES in cases of isolated increased NT ≥ 3.0 mm. Our findings provide valuable evidence for clinical counseling.
Hui Wang, Caiqun Luo, Qian Geng, Xiaoxin Xu, Yang Liu   +4 more
wiley   +1 more source

Identification of patients with defects in the globin genes by studying the blood parameters and genetic study: a Case Report

Mediterranean Journal of Hematology and Infectious Diseases, 2014
Hemoglobinopathies constitute a major health problem worldwide, with a high carrier frequency, particularly in certain regions where malaria has been endemic. These disorders are characterized by a vast clinical and hematological phenotypic heterogeneity.
Domenico Dell'Edera, Giusi Natalia Milazzo, Antonio Malvasi, Andrea Tinelli, Manuela Leo, Carmela Santacesaria, Arianna Allegretti, Elena Pacella, Rocchina Barbieri, Maria Brigida Lioi, Annunziata Anna Epifania   +10 more
doaj  

Analysis of genetic distance between Peruvian Alpaca (Vicugna Pacos) showing two distinct fleece phenotypes, Suri and Huacaya, by means of microsatellite markers

Italian Journal of Animal Science, 2011
Two coat phenotypes exist in Alpaca, Huacaya and Suri. The two coats show different fleece structure, textile characteristics and prices on the market.
Carlo Renieri, Riccardo Bozzi, Norberto Apaza, Teodosio Huanca, Siva Saravanaperumal, Antonietta La Terza, Silvia Ghezzi, Vincenzo La Manna   +7 more
doaj   +1 more source

A study of genetic population of Alosa braschnicowi (Borodin, 1904) in Sari and Mahmodabad coasts in the Caspian Sea, using Microsatellite loci

International Journal of Aquatic Biology, 2014
In this study, five Microsatellite loci were used to evaluate genetic diversity of A. braschnicowi between two populations of the Caspian Sea. Sixty samples were collected from the coasts of Mahmodabad and Sari (30 specimens for each population).
Omid Jafari, Ali Shabany, Hamed Kolangi Miandare   +2 more
doaj  

Description of a new rare alpha-1 antitrypsin mutation in Naples (Italy): PI*M S-Napoli

Annals of Thoracic Medicine, 2018
Alpha-1 antitrypsin deficiency is a rare and often underdiagnosed hereditary disorder, which mainly affects the Caucasian population. We report a case of a noncystic fibrosis bronchiectasis patient in the absence of emphysema associated with low serum ...
Marco Mosella, Mariasofia Accardo, Antonio Molino, Mauro Maniscalco, Alessandro Sanduzzi Zamparelli   +4 more
doaj   +1 more source

Allozymic variation in the Pacific oyster Crassostrea gigas from San Quintín Bay,Baja California, Mexico

Ciencias Marinas, 2004
 Allozymic variability was analyzed in adult oysters Crassostrea gigas from the 1999, 2000 and 2001 crops of San Quintín Bay, Baja California, Mexico, using starch gel electrophoresis. The analysis included 13 enzymatic systems that revealed 25 loci, of
F Correa, E Collins, A Oceguera, B Cordero, D Domínguez   +4 more
doaj   +1 more source

Co-inheritance of Alpha & Beta-Thalassemia: Case Report of a Bangladeshi Individual

Haematology Journal of Bangladesh
The double heterozygous state of ? and ? thalassemia may alter the haematological indices and cause diagnostic challenges. Compound heterozygosity plays a vital role in modifying treatment plans and modes of genetic counselling.
Maruf Al Hasan, Tamanna Nourin
doaj   +1 more source

Heterozygosity level and its relationship with genetic variability mechanisms in beans

Revista Ciência Agronômica
Heterozygosity is an extremely important resource in early breeding programs using autogamous plants because it is usually associated with the presence of genetic variability.
Rita Carolina de Melo, Nicole Trevisani, Thayse Cristine Vieira Pereira, Altamir Frederico Guidolin, Jefferson Luís Meirelles Coimbra   +4 more
doaj   +1 more source

Calving probability in the first and second reproductive years of beef heifers that reached the recommended body weight at first breeding season

Revista Brasileira de Zootecnia
The objective was to evaluate factors that influence calving probability in the first and second reproductive years of beef heifers that reached the minimum recommended body weight (BW) in the first breeding season.
Rangel Fernandes Pacheco, João Restle, Ivan Luiz Brondani, Dari Celestino Alves Filho, Jonatas Cattelam, Andrei Retamoso Mayer, Ana Paula Machado Martini, Diego Soares Machado   +7 more
doaj   +1 more source

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source