Results 41 to 50 of about 79,198 (289)
Frontiers in Neurology, 2021 Parkinson disease (PD) is a complex neurodegenerative disorder, usually with multifactorial etiology. It is characterized by prominent movement disorders and non-motor symptoms.
Daniele Guadagnolo +7 more
doaj +1 more source
Mechanisms of non-Mendelian inheritance in genetic disease [PDF]
Human Molecular Genetics, 2004 Single gene disorders with Mendelian inheritance patterns have contributed greatly to the identification of genes and pathways implicated in genetic disease. In these cases, molecular analysis predicts disease status relatively directly. However, there are many abnormalities which show familial recurrence and have a clear genetic component, but do not ...
Veronica, Van Heyningen +1 more
openaire +2 more sources
Hepatology, EarlyView., 2022 A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan +19 more
wiley +1 more source
Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]
, 2013 Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui +2 more
core +2 more sources
Meiotic drive in chronic lymphocytic leukemia compared with other malignant blood disorders
Scientific Reports, 2022 The heredity of the malignant blood disorders, leukemias, lymphomas and myeloma, has so far been largely unknown. The present study comprises genealogical investigations of one hundred and twelve Scandinavian families with unrelated parents and two or ...
Viggo Jønsson +7 more
doaj +1 more source
Frontiers in Genetics, 2014 Commensal gut bacteria in many species including flies are integral part of their host, and are known to influence its development and homeostasis within generation.
Yael eFridmann-Sirkis +6 more
doaj +1 more source
Efficient allelic-drive in Drosophila. [PDF]
, 2019 Gene-drive systems developed in several organisms result in super-Mendelian inheritance of transgenic insertions. Here, we generalize this "active genetic" approach to preferentially transmit allelic variants (allelic-drive) resulting from only a single ...
Berni, Mateus +9 more
core +3 more sources
Complex segregation analysis of pedigrees from the Gilda Radner Familial Ovarian Cancer Registry reveals evidence for mendelian dominant inheritance. [PDF]
PLoS ONE, 2009 BACKGROUND:Familial component is estimated to account for about 10% of ovarian cancer. However, the mode of inheritance of ovarian cancer remains poorly understood.
Bamidele O Tayo +8 more
doaj +1 more source
The genetic landscape of polymicrogyria
Annals of Indian Academy of Neurology, 2022 Polymicrogyria (PMG) is a relatively common complex malformation with cortical development, characterized by an exorbitant number of abnormally tiny gyri separated by shallow sulci. It is a neuronal migration disorder.
Jesmy James +4 more
doaj +1 more source
The Extended (Evolutionary) Synthesis Debate: Where Science Meets Philosophy [PDF]
, 2014 Recent debates between proponents of the modern evolutionary synthesis (the standard model in evolutionary biology) and those of a possible extended synthesis are a good example of the fascinating tangle among empirical, theoretical, and conceptual or ...
Finkelman, Leonard, Pigliucci, Massimo
core +2 more sources