Inherited genetic risk in stillbirth: A shared genomic segments analysis of high-risk pedigrees [PDF]
HGG AdvancesSummary: Stillbirth is a devastating adverse pregnancy outcome affecting 2 million pregnancies worldwide. Although an etiology may be found in some stillbirths, one-third remain unexplained.
Tsegaselassie Workalemahu +18 more
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Case Report: Investigation and characterization of a multiple endocrine neoplasia type 1 case and its pedigree [PDF]
Frontiers in EndocrinologyMultiple Endocrine Neoplasia Type 1 (MEN1) is an autosomal dominant inherited disease characterized by the combined occurrence of tumors in multiple endocrine organs.
Yifan Liu +5 more
doaj +2 more sources
Influence of propolis biologically active substances on blood biochemical parameters and morphometric indicators of intestines of store pigs [PDF]
E3S Web of Conferences, 2020 The results of research in some cases allow to judge the change in the functional activity of the studied organs after the use of the preparation. The obtained factual material significantly supplements the information about the biological properties of ...
Gaponov N.V. +4 more
doaj +1 more source
Frontiers in Endocrinology, 2022 BackgroundType I hyperlipoproteinemia, characterized by severe hypertriglyceridemia, is caused mainly by loss-of-function mutation of the lipoprotein lipase (LPL) gene.
Shuping Wang +25 more
doaj +1 more source
Pedigree Analysis of Warmblood Horses Participating in Competitions for Young Horses
Frontiers in Genetics, 2021 The aim of the study was to characterize the population structure and assess the genetic diversity of warmblood horses used in the show jumping discipline.
Tomasz Próchniak +6 more
doaj +1 more source
Chinese Journal of Contemporary Neurology and Neurosurgery, 2023 Objective To summarize the clinical and genetic mutation characteristics of a family of early ‑ onset familial Alzheimer's disease (EOFAD) type 3 with spastic paraplegia as the first symptom.
LI Hai‑jiang, WANG Chao‑dong
doaj +1 more source
ECONOMIC ASPECTS OF RICE PRODUCTION ON RECLAMATION SYSTEMS OF KRASNODAR TERRITORY
Научный журнал Российского НИИ проблем мелиорации, 2020 Purpose: to identify factors contributing to the development of rice production, the efficiency of rice production, stabilization of the sector, using modern approaches based on the analysis of foreign and domestic economic indicators.
N. N. Malysheva, S. V. Kizinyok
doaj +1 more source
Precision Therapy for a Chinese Family With Maturity-Onset Diabetes of the Young
Frontiers in Endocrinology, 2021 ObjectiveTo determine the pathogenic gene and explore the clinical characteristics of maturity-onset diabetes of the young type 2 (MODY2) pedigree caused by a mutation in the glucokinase (GCK) gene.MethodsUsing whole-exome sequencing (WES), the ...
Juyi Li +7 more
doaj +1 more source
Genealogical data of Boer and Nubian goats in Mexico [PDF]
, 2020 The pedigree file of the Boer and Nubian goat breeds in Mexico was constructed using the national database provided by the Asociación Mexicana de Criadores de Ganado Caprino de Registro.
Ben Zaabza, H. +5 more
core +1 more source
Spinocerebellar ataxia 2 presenting as Parkinsonism: two families report and literatures review
Chinese Journal of Contemporary Neurology and Neurosurgery, 2022 Objective To summarize the clinical, imaging and genetic characteristics of spinocerebellar ataxia 2 (SCA2) families presenting as Parkinsonism. Methods and Results Two families with autosomal dominant SCA2 with Parkinson's syndrome diagnosed by genetic ...
WAN Ya⁃lan +8 more
doaj +1 more source