Expansion of the genetic landscape of ERLIN2‐related disorders
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51007
Abstract: ERLIN2‐related disorders are rare conditions of the motor system and clinical details are limited to a small number of prior descriptions. We here presented clinical and genetic details in five individuals (four different families) where… read more here.
Keywords: landscape erlin2; expansion genetic; erlin2 related; genetic landscape ... See more keywords
Revisiting the male genetic landscape of China: a multi-center study of almost 38,000 Y-STR haplotypes
Sign Up to like & getrecommendations! Published in 2017 at "Human Genetics"
DOI: 10.1007/s00439-017-1759-x
Abstract: China has repeatedly been the subject of genetic studies to elucidate its prehistoric and historic demography. While some studies reported a genetic distinction between Northern and Southern Han Chinese, others showed a more clinal picture… read more here.
Keywords: revisiting male; china; genetic landscape; han ... See more keywords
Deciphering the genetic landscape of pulmonary lymphomas
Sign Up to like & getrecommendations! Published in 2020 at "Modern Pathology"
DOI: 10.1038/s41379-020-00660-2
Abstract: Pulmonary lymphoid malignancies comprise various entities, 80% of them are pulmonary marginal zone B-cell lymphomas (PMZL). So far, little is known about point mutations in primary pulmonary lymphomas. We characterized the genetic landscape of primary… read more here.
Keywords: pmzl; pulmonary lymphomas; landscape; case ... See more keywords
Molecular Genetic Landscape of Sclerosing Pneumocytomas.
Sign Up to like & getrecommendations! Published in 2020 at "American journal of clinical pathology"
DOI: 10.1093/ajcp/aqaa136
Abstract: OBJECTIVES Sclerosing pneumocytomas are rare pulmonary neoplasms that are typically benign. However, rare patients experience progressive disease, and therapy targeting specific genetic underpinnings could be an attractive therapeutic option. Recent studies have found recurrent AKT… read more here.
Keywords: mtor pathway; sclerosing pneumocytomas; molecular genetic; landscape sclerosing ... See more keywords
Genetic landscape of auditory dysfunction.
Sign Up to like & getrecommendations! Published in 2018 at "Human molecular genetics"
DOI: 10.1093/hmg/ddy158
Abstract: Over the past 25 years, human and mouse genetics research together has identified several hundred genes essential for mammalian hearing, leading to a greater understanding of the molecular mechanisms underlying auditory function. However, from the… read more here.
Keywords: auditory; genetics; landscape auditory; auditory dysfunction ... See more keywords
River valleys shaped the maternal genetic landscape of Han Chinese.
Sign Up to like & getrecommendations! Published in 2019 at "Molecular biology and evolution"
DOI: 10.1093/molbev/msz072
Abstract: A general south-north genetic divergence has been observed among Han Chinese in previous studies. However, these studies, especially those on mitochondrial DNA (mtDNA), are based either on partial mtDNA sequences or limited samples. Given that… read more here.
Keywords: landscape han; river valleys; genetic landscape; han chinese ... See more keywords
Genetic landscape of indolent and aggressive Kaposi sarcomas
Sign Up to like & getrecommendations! Published in 2022 at "Journal of the European Academy of Dermatology and Venereology"
DOI: 10.1111/jdv.18463
Abstract: Kaposi sarcoma (KS) is a rare skin tumour caused by herpesvirus 8 infection and characterized by either indolence or an aggressive course necessitating systemic therapies. The genetic basis of this difference remains unknown. read more here.
Keywords: landscape indolent; aggressive kaposi; genetic landscape; dermatology ... See more keywords
Genetic landscape and deregulated pathways in B‐cell lymphoid malignancies
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Internal Medicine"
DOI: 10.1111/joim.12633
Abstract: With the introduction of next‐generation sequencing, the genetic landscape of the complex group of B‐cell lymphoid malignancies has rapidly been unravelled in recent years. This has provided important information about recurrent genetic events and identified… read more here.
Keywords: medicine; lymphoid malignancies; cell lymphoid; genetic landscape ... See more keywords
Delayed Changes in the Frequency of Unstable Chromosomal Aberrations and the CNA-Genetic Landscape of Blood Leukocytes in People Exposed to Long-Term Occupational Irradiation
Sign Up to like & getrecommendations! Published in 2019 at "Biology Bulletin"
DOI: 10.1134/s1062359019110049
Abstract: Abstract—The results of a study of delayed changes in the frequency of unstable chromosomal aberrations and the CNA- and LOH-genetic landscape of blood leukocytes in healthy employees at the main facilities of the Siberian Group… read more here.
Keywords: aberrations cna; genetic landscape; blood; frequency ... See more keywords
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Medical Genetics"
DOI: 10.1136/jmg-2022-108725
Abstract: Background Joubert syndrome (JS) is a neurodevelopmental ciliopathy characterised by a distinctive mid-hindbrain malformation, the ‘molar tooth sign’. Over 40 JS-associated genes are known, accounting for two-thirds of cases. Methods While most variants are novel… read more here.
Keywords: founder; hypomorphic variants; joubert syndrome; genetic landscape ... See more keywords
The genetic landscape of children born small for gestational age with persistent short stature (SGA-SS).
Sign Up to like & getrecommendations! Published in 2023 at "Hormone research in paediatrics"
DOI: 10.1159/000530521
Abstract: INTRODUCTION Among children born small for gestational age, 10-15% fails to catch-up and remains short (SGA-SS). The underlying mechanisms are mostly unknown. We aim to decipher genetic aetiologies of SGA-SS within a large single-centre cohort.… read more here.
Keywords: born small; genetic landscape; age; gestational age ... See more keywords