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A Novel Heterozygous and Pathogenic Variant of the HNF1B Gene Associated with Autosomal Dominant Tubulointerstitial Kidney Disease with a Broad Spectrum of Extrarenal Phenotypes: A Case Report.
Intern Med
January 2025
Department of Nephrology, The University of Osaka Graduate School of Medicine, Japan.
We encountered a family with hereditary renal failure, renal medullary cysts, pancreatic hypoplasia, hypomagnesemia, liver enzyme abnormalities, and diabetes mellitus (DM). We identified a novel heterozygous variant of HNF1B (NM_000458.4:c.
View Article and Find Full Text PDFDiagnosis of hereditary ataxias: a real-world single center experience.
J Neurol
January 2025
Neurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Objective: This study aims to evaluate our experience in the diagnosis of hereditary ataxias (HAs), to analyze data from a real-world scenario.
Study Design: This is a retrospective, cross-sectional, descriptive study conducted at a single Italian adult neurogenetic outpatient clinic, in 147 patients affected by ataxia with a suspicion of hereditary forms, recruited from November 1999 to February 2024. A stepwise approach for molecular diagnostics was applied: targeted gene panel (TP) next-generation sequencing (NGS) and/or clinical exome sequencing (CES) were performed in the case of inconclusive first-line genetic testing, such as short tandem repeat expansions (TREs) testing for most common spinocerebellar ataxias (SCA1-3, 6-8,12,17, DRPLA), other forms [Fragile X-associated tremor/ataxia syndrome (FXTAS), Friedreich ataxia (FRDA) and mitochondrial DNA-related ataxia, RFC1-related ataxia/CANVAS] or inconclusive phenotype-guided specific single gene sequencing.
Professional improbity: How Hermann J. Muller's ethics affected his science.
J Occup Environ Hyg
January 2025
Finance Department, University of Texas at Austin, Austin, Texas.
The present paper provides an assessment of how the scientific and national policy achievements/goals of Hermann J. Muller were impacted by his ethics and provides several documented episodes in which Muller acted unethically to promote his personal gain-at the expense of others-within the scientific community. Muller manipulated the scientific community in self-serving ways to suppress perspectives that challenged his own views on radiation-induced gene mutation, and hereditary and cancer risk assessment in ways that influenced his significant awards (e.
View Article and Find Full Text PDFClinical management of hereditary gingival fibromatosis: Case report with 13 years follow-up.
Clin Adv Periodontics
January 2025
Dentistry School, Federal University of Minas Gerais, Belo Horizonte, Brazil.
Background: Hereditary gingival fibromatosis (HGF) is one of the categories of non-plaque-induced gingival diseases of genetic origin. Current studies show high genetic heterogeneity and suggest that not all forms of HGF are the same and that more than one biological mechanism may result in gingival growth. This report presents a case of syndromic HGF with generalized and complex clinical manifestations associated with other conditions such as body hypertrichosis and hearing deficit.
View Article and Find Full Text PDFEffective Newborn Screening for Type 1 and 3 Primary Hyperoxaluria.
Kidney Int Rep
January 2025
Division of Pediatric Nephrology, Rosenheim Hospital, Germany.
Introduction: Newborn screening (NBS) programs for a defined set of eligible diseases have been enormously successful, but genomic NBS allowing for detection of additional treatable disorders has not been broadly implemented. All 3 types of primary hyperoxaluria (PH1-3) are rare autosomal recessive diseases caused by distinct defects of glyoxylate metabolism that are diagnosed genetically with certainty. Early diagnosis and treatment are mandatory to avoid renal failure or sequalae associated with persistent hyperoxaluria.
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