Genetic Investigation of Fetuses With Isolated Unilateral Renal Agenesis Identified on Second Trimester Ultrasound: A Single Referral Center Experience
Sign Up to like & getrecommendations! Published in 2025 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6877
Abstract: The objective of this paper is to explore genetic syndromes in fetuses with isolated unilateral renal agenesis (URA). read more here.
Keywords: renal agenesis; genetic investigation; unilateral renal; isolated unilateral ... See more keywords
Genetic investigation of purine nucleotide imbalance in Saccharomyces cerevisiae
Sign Up to like & getrecommendations! Published in 2020 at "Current Genetics"
DOI: 10.1007/s00294-020-01101-y
Abstract: Because metabolism is a complex balanced process involving multiple enzymes, understanding how organisms compensate for transient or permanent metabolic imbalance is a challenging task that can be more easily achieved in simpler unicellular organisms. The… read more here.
Keywords: imbalance; purine nucleotide; investigation purine; nucleotide imbalance ... See more keywords
Isolated hypospadias identified on fetal ultrasound: genetic investigation results at a single referral center.
Sign Up to like & getrecommendations! Published in 2025 at "Fetal diagnosis and therapy"
DOI: 10.1159/000548821
Abstract: Introduction To investigate genetic defects in fetuses diagnosed with isolated hypospadias. Methods This retrospective study analyzed 61 cases of isolated fetal hypospadias identified through second-trimester or third-trimester ultrasound examinations. All participants underwent invasive prenatal diagnostic… read more here.
Keywords: genetic investigation; identified fetal; isolated hypospadias; fetal ultrasound ... See more keywords
Genetic investigation of sinopulmonary diseases in Vietnam: seeking specific causes from non-specific symptoms
Sign Up to like & getrecommendations! Published in 2025 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-025-04031-5
Abstract: Sinopulmonary diseases are characterized by bronchiectasis (BE) and chronic rhinosinusitis, partly arising from clear genetic abnormalities such as cystic fibrosis (CF) and primary ciliary dyskinesia (PCD). However, the spectrum varies across ethnicities, and specifically, while… read more here.
Keywords: investigation sinopulmonary; genetic investigation; non specific; vietnam seeking ... See more keywords
Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2019-0433
Abstract: Abstract Objectives Congenital hypothyroidism (CH) is the most common congenital endocrine disorder. Recent advances in genetic testing have revealed its causative mutations in some CH patients. However, the underlying etiology remains unknown in most patients.… read more here.
Keywords: congenital hypothyroidism; 136 japanese; japanese patients; clinical genetic ... See more keywords
Genetic investigation of dementias in clinical practice
Sign Up to like & getrecommendations! Published in 2022 at "Arquivos de Neuro-Psiquiatria"
DOI: 10.1590/0004-282x-anp-2022-s103
Abstract: Abstract Background:  The field of neurodegenerative dementia genetics has advanced significantly over the past two decades, but there are still more to be discovered (such as the gene mutation in some familial forms of dementia).… read more here.
Keywords: dementias; dementias clinical; investigation dementias; genetic investigation ... See more keywords