Results 71 to 80 of about 7,265 (207)

Robert Zeller, MD (1938–2025)

Annals of the Child Neurology Society, EarlyView.
Gary D. Clark, Phillip L. Pearl
wiley   +1 more source

The Utility of Whole Exome Sequencing in Fetuses With Isolated Increased Nuchal Translucency

Molecular Genetics &Genomic Medicine, Volume 13, Issue 12, December 2025.
In this work, we evaluated the utility of whole exome sequencing in fetuses with isolated increased nuchal translucency. Our analysis revealed a low diagnostic yield (2.5%) for prenatal WES in cases of isolated increased NT ≥ 3.0 mm. Our findings provide valuable evidence for clinical counseling.
Hui Wang, Caiqun Luo, Qian Geng, Xiaoxin Xu, Yang Liu   +4 more
wiley   +1 more source

AFLP estimation of the outcrossing rate of Spondias tuberosa (Anacardiaceae), an endemic species to the Brazilian semiarid region Una estimación AFLP de la tasa de fecundación cruzada de Spondias tuberosa (Anacardiaceae), una especie endémica de la región semiárida de Brasil

Revista de Biología Tropical, 2013
The umbu tree (Spondias tuberosa) is one of the most important endemic species to the Brazilian tropical semiarid region. The umbu tree has edible fruits with a peculiar flavor that are consumed in natura or in a semi-industrialized form, such as jams ...
Carlos Antonio Fernandes Santos, Renata Natália Cândido de Souza Gama   +1 more
doaj  

Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report

Orphanet Journal of Rare Diseases, 2010
Hereditary hypophosphatemic rickets with hypercalciuria is a rare autosomal recessive disorder (OMIM #241530), characterized by decreased renal phosphate reabsorption that leads to hypophosphatemia, rickets, and bone pain; hypophosphatemia is believed to
Pérez-Menéndez Teresa M, Coto Eliecer, Gil-Peña Helena, Mejia-Gaviria Natalia, Santos Fernando   +4 more
doaj   +1 more source

A new chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form [PDF]

, 2009
Background More than 90% of Congenital Adrenal Hyperplasia (CAH) cases are associated with mutations in the 21-hydroxylase gene (CYP21A2) in the HLA class III area on the short arm of chromosome 6p21.3.
Paola Concolino, Enrica Mello, Angelo Minucci, Emiliano Giardina, Cecilia Zuppi, Vincenzo Toscano, Ettore Capoluongo, PC White, PW Speiser, A Bachelot, PC White, Z Yang, B Haglund-Stengler, CA Blanchong, PC White, JW Werkmeister, HH Lee, MT Tusié-Luna, HH Lee, HH Lee, HH Lee, D L'Allemand, PC White, P Concolino, Y Morel, KT Belt, HH Lee, GR Smith, X Chu, PF Koppens, AA Killeen   +30 more
core   +1 more source

A Test of the Long‐Term Efficiency of Genetic Rescue With Drosophila melanogaster

Molecular Ecology, Volume 34, Issue 23, December 2025.
ABSTRACT Genetic rescue is considered a promising but underutilised conservation strategy to mitigate inbreeding depression and restore genetic diversity. Yet, empirical evidence supporting its long‐term efficacy is limited to studies investigating short‐term effects.
Noelia Pérez‐Pereira, Daniel Kleinman‐Ruiz, Aurora García‐Dorado, Humberto Quesada, Armando Caballero   +4 more
wiley   +1 more source

PRNP P39L variant is a rare cause of frontotemporal dementia in Iialian population [PDF]

, 2016
The missense P39L variant in the prion protein gene (PRNP) has recently been associated with frontotemporal dementia (FTD). Here, we analyzed the presence of the P39L variant in 761 patients with FTD and 719 controls and found a single carrier among ...
Arcaro, Marina, Arighi, Andrea, Arosio, Beatrice, Benussi, Luisa, Binetti, Giuliano, Bruno, Giuseppe, Bursey, Devan, Cioffi, Sara Mg, Confaloni, Annamaria, Fenoglio, Chiara, Fumagalli, Giorgio G, Galimberti, Daniela, Ghidoni, Roberta, Grande, Giulia, Kauwe, John S, Mari, Daniela, Mariani, Claudio, Nacmias, Benedetta, Oldoni, Emanuela, Pinessi, Lorenzo, Piscopo, Paola, Rainero, Innocenzo, Rubino, Elisa, Scarioni, Marta, Scarpini, Elio, Serpente, Maria, Sorbi, Sandro, Talarico, Giuseppina   +27 more
core   +2 more sources

Transmural APD heterogeneity determines ventricular arrhythmogenesis in LQT8 syndrome: Insights from Bidomain computational modeling.

PLoS ONE
Long QT Syndrome type 8 (LQT8) is a cardiac arrhythmic disorder associated with Timothy Syndrome, stemming from mutations in the CACNA1C gene, particularly the G406R mutation.
Simone Scacchi, Luca F Pavarino, Andrea Mazzanti, Alessandro Trancuccio, Silvia G Priori, Piero Colli Franzone   +5 more
doaj   +1 more source

Targeted Editing and Phenotypic Profiling of CmOFP13 Mutants Reveal Its Role in Melon Fruit Morphogenesis

Physiologia Plantarum, Volume 177, Issue 6, November/December 2025.
ABSTRACT The melon fruit shape is a trait that influences storage as well as consumer preference. Fruit shape is known to be regulated by factors such as Ovate Family Proteins (OFPs), Tonneau Recruiting Motif proteins (TRMs), IQ67 domain proteins (IQDs) and plant hormones.
Carlos Mayobre, María José Gonzalo, Montserrat Vergés, Guillem Guardia‐Bersabé, Dídac Jiménez‐Sánchez, Antonio José Monforte, Jordi Garcia‐Mas, Marta Pujol   +7 more
wiley   +1 more source

A Bayesian framework to identify methylcytosines from high-throughput bisulfite sequencing data.

PLoS Computational Biology, 2014
High-throughput bisulfite sequencing technologies have provided a comprehensive and well-fitted way to investigate DNA methylation at single-base resolution. However, there are substantial bioinformatic challenges to distinguish precisely methylcytosines
Qing Xie, Qi Liu, Fengbiao Mao, Wanshi Cai, Honghu Wu, Mingcong You, Zhen Wang, Bingyu Chen, Zhong Sheng Sun, Jinyu Wu   +9 more
doaj   +1 more source