Results 161 to 170 of about 6,343 (253)
Nomogram for estimating specific consanguinity risks
, 1981 SUMMARY This paper describes a nomogram to estimate the chance of consanguinity for specific autosomal recessive diseases, taking into account the gene frequencies (q) of the recessive alleles and the coefficient of inbreeding (F) of the family of the ...
Ricardo Cruz-coke
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Interdisciplinary Medicine, EarlyView.Bacteroides fragilis is associated with type 2 diabetes (T2D) arterial calcification and can be activated by macrophage‐derived extracellular vesicles (EVs). BF takes up EVs via receptor‐mediated endocytosis, and activation is induced by EV‐derived Mef2d, thereby inhibiting ArsR family transcriptional regulator transcription.
Cong Chen +6 more
wiley +1 more source
Consanguinity: Cultural, religious and social aspects
, 2010 Consanguinity is defined as marriage between blood relatives and is commonly used to describe relationships that include up to second cousin marriages (Bittles, 1994).
Hussain, Rafat
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Early Acitretin Therapy in a Patient With Harlequin Ichthyosis
JEADV Clinical Practice, EarlyView.ABSTRACT Harlequin ichthyosis (HI) is a rare, severe congenital disorder of keratinization caused by pathogenic variants in the ABCA12 gene resulting in thick, hyperkeratotic plates, deep fissures, and characteristic facial and limb abnormalities.
Orasa Sukmark +2 more
wiley +1 more source
JEADV Clinical Practice, EarlyView.ABSTRACT Oculocutaneous albinism (OCA) is a genetic disorder found worldwide, but its impact is particularly pronounced in the African continent. This results from both a higher prevalence and the persistent myths and superstitions surrounding the condition in many African communities.
Rebecca Donadoni +3 more
wiley +1 more source
De novo TANC2 stop‐loss variant associated with developmental impairment and drug‐resistant epilepsy
Epileptic Disorders, EarlyView.
Matthew A. Hintermayer, Kenneth A. Myers
wiley +1 more source
International Journal of Chemical Kinetics, EarlyView.ABSTRACT Recent experiments by Nunes et al. have demonstrated that unprecedented control of chemical reactions is possible by narrowband infrared vibrational photo‐excitation at low temperatures in inert matrices. The generated higher energy level conformers may then undergo rotamerisation and tautomerisation reactions which provide extremely useful ...
Judith Wurmel, John M. Simmie
wiley +1 more source
The Bazaar as a Model for Knowledge Work
Knowledge and Process Management, EarlyView.ABSTRACT This paper presents fieldwork that extends existing metaphors of knowledge work as a process shaped by hierarchical or market forces. A qualitative, ethnographic study of six knowledge‐intensive businesses in two countries identifies striking parallels with the Middle Eastern bazaar in contrast to Western impersonal markets and hierarchies. We
Reed Elliot Nelson +2 more
wiley +1 more source
Movement Disorders Clinical Practice, EarlyView.Background Progressive supranuclear palsy (PSP) is a rare and devastating tauopathy with limited global data. Given India's large population, genetic diversity, and clinical heterogeneity, large multicenter datasets are crucial to enrich global understanding of PSP. Objective To characterize the demographic, clinical, and phenotypic profiles of a large
Prashanth Lingappa Kukkle +31 more
wiley +1 more source
Presynaptic Congenital Myasthenic Syndromes
Muscle &Nerve, EarlyView.ABSTRACT Presynaptic congenital myasthenic syndromes (CMS) encompass a large number of rare neurologic disorders caused by impaired release of acetylcholine (ACh) from motor nerve terminals. There are two main groups of presynaptic CMS: one in which the amount of ACh in synaptic vesicles (SV) is diminished and another in which the mechanism of synaptic
Ricardo A. Maselli
wiley +1 more source