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Pilot work of the 10K Chinese People Genomic Diversity Project along the Silk Road suggests a complex east-west admixture landscape and biological adaptations.
Sci China Life Sci
January 2025
Institute of Rare Diseases, West China Hospital of Sichuan University, Sichuan University, Chengdu, 610000, China.
Genomic sources from China are underrepresented in the population-specific reference database. We performed whole-genome sequencing or genome-wide genotyping on 1,207 individuals from four linguistically diverse groups (1,081 Sinitic, 56 Mongolic, 40 Turkic, and 30 Tibeto-Burman people) living in North China included in the 10K Chinese People Genomic Diversity Project (10K_CPGDP) to characterize the genetic architecture and adaptative history of ethnic groups in the Silk Road Region of China. We observed a population split between Northwest Chinese minorities (NWCMs) and Han Chinese since the Upper Paleolithic and later Neolithic genetic differentiation within NWCMs.
View Article and Find Full Text PDFMaternal and Fetal Complications in Pregnant Women with Neurofibromatosis Type 1: Literature Review and Two Case Reports.
J Clin Med
January 2025
"Carol Davila" University of Medicine and Pharmacy, 020021 Bucharest, Romania.
Neurofibromatosis is a genetic disorder arising de novo or with an autosomal dominant transmission that typically presents either at birth or in early childhood, manifesting through distinctive clinical features such as multiple café-au-lait spots, benign tumors in the skin, bone enlargement, and deformities. This literature review aims to resume the spectrum of maternal and fetal complications encountered in pregnant women with neurofibromatosis type 1 (NF1). Thorough research was conducted on databases such as Web of Science, PubMed, Science Direct, Google Scholar, and Wiley Online Library.
View Article and Find Full Text PDFNon-Invasive Determination of the Paternal Inheritance in Pregnancies at Risk for β-Thalassaemia by Analyzing Cell-Free Fetal DNA Using Targeted Next-Generation Sequencing.
Int J Mol Sci
January 2025
Molecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology & Genetics, Nicosia 2371, Cyprus.
Non-invasive prenatal testing (NIPT) has been widely adopted for the screening of chromosomal abnormalities; however, its adoption for monogenic disorders, such as β-thalassaemia, has proven challenging. Haemoglobinopathies are the most common monogenic disorders globally, with β-thalassaemia being particularly prevalent in Cyprus. This study introduces a non-invasive prenatal haplotyping (NIPH) assay for β-thalassaemia, utilizing cell-free DNA (cfDNA) from maternal plasma.
View Article and Find Full Text PDF[Frameshift mutation in gene causes amelogenesis imperfecta].
Beijing Da Xue Xue Bao Yi Xue Ban
February 2025
Department of Cariology and Endodontology, Peking University School and Hospital of Stomatology & National Center for Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Research Center of Oral Biomaterials and Digital Medical Devices, Beijing 100081, China.
Objective: To analyze gene mutation found in a pedigree with clinical features and inheritable pattern consistent with amelogenesis imperfecta (AI) in China, and to study the relationship between its genotype and phenotype.
Methods: Clinical and radiological features were recorded for the affected individuals. Peripheral venous blood samples of the patient and family members were collected for further study, and the genomic DNA was extracted to identify the pathogenic gene.
Efficacy and safety of an Albuvirtide-based regimen for preventing mother-to-child transmission of multidrug-resistant HIV: a case report.
BMC Pregnancy Childbirth
January 2025
Department of Infectious Diseases, Ganzhou Fifth People's Hospital, Ganzhou, China.
Background: Antiretroviral drugs are essential for preventing mother-to-child transmission (MTCT) of HIV in HIV-infected pregnant women. However, ART treatment for HIV-infected pregnant women with multidrug resistance remains a major challenge. Effective and safe ART regimens for preventing MTCT should be tailored to this special population.
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