Chromosomal causes of hypergonadotropic hypogonadism in women and men. Literature review
Репродуктивная эндокринология, 2020 Despite the relatively small portion in the structure of the infertility causes, hypergonadotropic hypogonadism (HH) is one of the greatest challenges in reproductive medicine.
О. А. Бурка +3 more
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Incidence and genetic outcome of fetal choroid plexus cyst diagnosed at 18-23 weeks scan: review of case series [PDF]
New Indian Journal of OBGYN, 2019 Objectives: The objective of the study is to determine the incidence, clinical and ultrasound characteristics of choroid plexus cyst diagnosed during the 18 -23 weeks anomaly scan and the genetic outcome in 6 pregnancies that underwent molecular ...
Olufemi Adebari Oloyede
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BMC Pregnancy and Childbirth, 2022 Background Down syndrome (DS) is the most common congenital cause of intellectual disability and also leads to numerous metabolic and structural problems.
Han Kang +5 more
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Several different cytogenetic clones arising during treatment of Philadelphia positive chronic myeloid leukemia with tyrosine kinase inhibitors lead to the progression into Philadelphia negative acute myeloid leukemia [PDF]
Vojnosanitetski Pregled, 2021 Introduction. Additional karyotype abnormalities in the Philadelphia-positive (Ph+) clone can emerge during the progression of chronic myeloid leukemia (CML) and are of-ten associated with the resistance to treatment with tyrosine kinase inhibitors (TKI).
Denčić-Fekete Marija +6 more
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Insects, 2020 Polymorphic chromosomal inversions have been implicated in local adaptation. In anopheline mosquitoes, inversions also contribute to epidemiologically relevant phenotypes such as resting behavior.
Martin Lukindu +8 more
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Frontiers in Genetics, 2019 In this study, we aimed to compare the efficiency of non-invasive prenatal testing (NIPT), karyotyping, and chromosomal micro-array (CMA) for the diagnosis of fetal chromosomal anomalies in the second and third trimesters.
Yiyang Zhu +11 more
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Advanced maternal age: copy number variations and pregnancy outcomes
Frontiers in Genetics, 2023 Objective: Adverse pregnancy outcomes are closely related to advanced maternal age (AMA; age at pregnancy ≥35 years). Little research has been reported on aneuploid abnormalities and pathogenic copy number variations (CNVs) affecting pregnancy outcomes ...
Luoyuan Cao +9 more
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Prevalence of 7q deletion in patients with Acute myeloid leukemia . [PDF]
Perspectives In Medical Research, 2020 Introduction: Deletion of critical regions on long arm of chromosome 7 is important in pathogenesis of acute myeloid leukemia (AML). These regions include 7q22 and 7q31 which carry certain tumor suppressor genes which if deleted can result in ...
Anjali Shastry1 , Amudha Subramaniam1 , Preetha Tilak2
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Pathological and Genetic Analysis of Foetuses with Ultrasonogram Detected Congenital Anomalies: A Cross-sectional Study from Southern India [PDF]
Indian Journal of Neonatal Medicine and ResearchIntroduction: Prenatal Ultrasonogram (USG) detects the majority of congenital anomalies, but a few cases may be missed due to multiple reasons. Hence, a detailed post-mortem evaluation of foetuses following termination of pregnancy can help to arrive at ...
S Ramya Devi, Tanya Salim, Uma Thankam
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Cytogenetic and molecular studies of the Egyptian Capsella bursa-pastoris (Brassicaceae)
Caryologia, 2021 Capsella bursa-pastoris (Brassicaceae) is one of the most successful tetraploid species in the world. It showed high morphological diversity within Egyptian populations.
Wafaa Amer, Rania Hassan, Amany Abdo
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