Results 51 to 60 of about 128,358 (156)
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
Efficacy of anticoagulant drugs as rodenticides and genetic variation on Vkorc1 of Mus musculus from Buenos Aires Province (Argentina). [PDF]
, 2013 The relationship between anticoagulant rodenticides and the gene for vitamin K epoxide reductase has been extensively studied. The significance of mutations in Vkorc1 on the degree of response to anticoagulants is controversial.
Espinosa, Maria Beatriz
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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
A rare case of Beckwith–Wiedemann syndrome caused by a de novo microduplication at 11p15.5 of paternal origin [PDF]
, 2011 Beckwith–Wiedemann syndrome (BWS) is a disorder of growth regulation exhibiting somatic overgrowth and predisposition to paediatric tumours. With an incidence estimated at 1 in 13,700, it is caused by various epigenetic and/or genetic alterations ...
Alves, Cristina +6 more
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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
Diagnóstico Genético Pré-implantação: aspetos técnicos e considerações éticas [PDF]
, 2012 Com o avanço das técnicas de Procriação Medicamente Assistida (PMA), surgiu em 1990 a primeira criança nascida após diagnóstico genético pré-implantação (DGPI).
Oliva Teles, Natália
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The ethics of genetic counseling : a challenge for medical education [PDF]
, 2009 O aconselhamento genético é uma prática que surgiu nos Estados Unidos na década de 1940 e tem se difundido ao redor do mundo com a crescente popularização da informação genética e a profissionalização da genética na saúde pública.
Diniz, Debora, Guedes, Cristiano
core +1 more source
Revista de Ciencias Médicas de Pinar del Río, 2015 El síndrome de Parry-Romberg, también conocido como hemiatrofia facial progresiva, es un síndrome neurocutáneo raro de etiología desconocida. Las principales características son la atrofia de los tejidos blandos, y algunas veces del hueso, en una mitad ...
Elayne Esther Santana Hernández +4 more
doaj
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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Prenatal Diagnosis of 45,X/46,XX Mosaicism with Presence of SRY Gene. A Case Report
Medisur, 2013 The most common karyotype of the Turner syndrome is 45,X, although it may occur as mosaic 45,X/46,XX. In the Provincial Medical Genetics Center, a 42-year-old pregnant woman underwent an amniocentesis which led to the detection of mosaic Turner Syndrome (
Pedro Alí Díaz-Véliz Jiménez +3 more
doaj +2 more sources