Results 21 to 30 of about 126,587 (112)
Clinical and Translational Discovery, Volume 6, Issue 1, February 2026.This systematic review synthesizes evidence from published studies, GWAS and grey literature (patents) to show that CAMK1D is implicated in diabetes, obesity, insulin resistance and altered feeding behaviours, with diagnostic potential and mechanistic relevance through regulatory binding and tissue‐specific effects.
Livio Tarchi +13 more
wiley +1 more source
XLIII Conferências de Genética Doutor Jacinto Magalhães: resumo das comunicações [PDF]
, 2014 Suplemento da revista Nascer & Crescer com os resumos dos Posters e Comunicações orais apresentadas durante as XLIII Conferências de Genética Doutor Jacinto Magalhães que decorreu no dia 28 de março de 2014, na cidade do Porto ...
Alvares, S.
core
Clinical Genetics, Volume 109, Issue 2, Page 305-315, February 2026.Missense variants in TMEM17 disrupt its localization and function at the ciliary transition zone, leading to a wide range of ciliopathy phenotypes, from OFD6 and Joubert syndromes to Meckel syndrome. ABSTRACT Ciliopathies are rare genetic disorders characterized by significant genetic and phenotypic variability.
Lucile Boutaud +19 more
wiley +1 more source
American Journal of Human Biology, Volume 38, Issue 1, January 2026.ABSTRACT Introduction Characterized as relatively isolated communities, many Brazilian quilombos were formed during the period of slavery in Brazil when enslaved persons (most of African descent) ran away or were abandoned by their enslavers. Quilombos in Central Brazil, whose settlement was more recent due to the relative isolation of the region ...
Sabrina Guimarães Paiva +7 more
wiley +1 more source
CDG due to Defective Membrane Transporters: Update
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT Congenital disorders of glycosylation are genetic defects in the glycoprotein and glycolipid glycan assembly and attachment. Some 200 CDG have been reported since the first clinical description in 1980. Most CDG are enzymatic deficiencies, but 13 (6.5%) are defects in the ER, Golgi apparatus (GA), and plasma membrane transporters.
D. Quelhas, C. R. Ferreira, J. Jaeken
wiley +1 more source
Protección de datos médicos e Internet [PDF]
, 2001 This report presents a discussion of the adventages electronic clinical data gives, not only to the medical staff (helping them to get more accurate data about their patients) but also to the patient (receiving a better medical care).
Cortés García, Claudio Ulises +2 more
core +1 more source
Hay bioética más allá de la autonomía [PDF]
, 2012 La historia de la bioética desde mediados del siglo XX ha supuesto una constante reivindicación del principio de autonomía del enfermo. Esta trayectoria ha engrandecido a la bioética como disciplina y la ha adaptado a las exigencias de una sociedad ...
Puyol, Ángel
core +2 more sources
Clinical Genetics, Volume 109, Issue 1, Page 136-140, January 2026.In a multicenter study of 692 patients with kidney disease, a 44‐gene panel achieved a 36% diagnostic yield. The 36% yield was not significantly lower than with larger panels or whole‐exome sequencing. A post hoc machine‐learning model identified key predictors to stratify patients into four risk bins (11%–74% yield), enabling more cost‐effective ...
Silvia Giovanella +22 more
wiley +1 more source
Descrição de uma forma autossômica dominante de síndrome de Kabuki por mutação no gene MLL2 [PDF]
, 2013 Aims: Although there are more than 400 cases of Kabuki syndrome described in the literature, it is believed that this syndrome is under-diagnosed. Most cases occur sporadically, despite cases with autosomal dominant familial transmission being described.
Beleza-Meireles, A +9 more
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Clinical Genetics, Volume 109, Issue 1, Page 181-187, January 2026.We report on the clinical characteristics of three new patients with pathogenic TRRAP variants expanding the syndrome's phenotype. In order to investigate the TRRAP potential involvement in skeletal development, osteoclastogenesis in Patient 1 was evaluated and TRRAP expression in osteoclasts and osteoblasts were analyzed.
Chiara Minotti +17 more
wiley +1 more source