Results 191 to 200 of about 726,961 (271)

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border

Clinical Genetics, Volume 110, Issue 5, Page 627-636, November 2026.
Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart, Michelle Gray, Roberta Sierra, Camille Maldonado, Daniel Brooks, Hongzheng Dai, Aaly Rahimtoola, Sandy Magallan, Sarah Rodriguez, Jose Gamez, Pattie Rosenlund, Surya N. Mulukutla, Alberto Allegre, Lori Berry, Brendan Lee, Daryl A. Scott, Blake Vuocolo, Seema R. Lalani   +17 more
wiley   +1 more source

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum

Clinical Genetics, Volume 110, Issue 5, Page 605-615, November 2026.
Pathogenic PORCN variants are compatible with male survival in both mosaic and non‐mosaic states, expanding the FDH/PONGOS spectrum and improving diagnosis and genetic counseling. ABSTRACT Pathogenic variants in PORCN cause focal dermal hypoplasia (FDH/Goltz syndrome), an X‐linked dominant disorder historically considered lethal in males, with milder ...
Lucía Miranda‐Alcaraz, Simone Carbonera, Mónica Mora‐Gómez, Natalia Gallego‐Zazo, Inmaculada Guillén, Elena Padilla, Gaia Visani, Alessia Asaro, Valeria Vásquez‐Amell, Mario Cazalla, Manuel Rodríguez‐Canó, Cristina Silván, Pedro Arias, Juan Andrés Jiménez‐Estrada, Tomás Valle, Alejandro Cruz‐Utrilla, Pilar Escribano‐Subías, Nuria Ochoa Parra, María Jesús del Cerro Marín, Julián Nevado, Spanish PAH Consortium, Pablo Lapunzina, Fabio Sirchia, Jair Tenorio‐Castano   +23 more
wiley   +1 more source

A questionnaire survey of radiological diagnosis and management of renal dysplasia in children. [PDF]

J Nephrol, 2018
Montini G, Busutti M, Yalcinkaya F, Woolf AS, Weber S, European Society for Paediatric Nephrology Working Group on Congenital Anomalies of the Kidney and Urinary Tract.   +5 more
europepmc   +1 more source

Robotic‐Arm Assisted Direct Anterior Approach Total Hip Arthroplasty Facilitates Tensor Fasciae Latae Preservation and Early Functional Recovery in Obese Patients

Orthopaedic Surgery, Volume 18, Issue 11, Page 2463-2479, November 2026.
In obese patients undergoing DAA‐THA, RA technology significantly reduced intraoperative injury to TFL. This muscle preservation effect was significantly associated with attenuated early postoperative inflammation, lower pain levels, and faster functional recovery.
Shijie Chen, Dasheng Lin, Huihuang Chen, Wentao Lin, Dongmin Xu, Eryou Feng   +5 more
wiley   +1 more source

Carotid artery dissection linked to intermittent apnoeic swimming: A case–control study

Experimental Physiology, Volume 111, Issue 11, Page 4966-4978, 1 November 2026.
Abstract Internal carotid artery (ICA) dissection is a rare and potentially devastating cause of cerebral ischaemia, initiated by an intimal tear or rupture of the vasa vasorum, that can lead to an intraluminal thrombus, vascular stenosis, occlusion, or dissecting aneurysm formation.
Damian M. Bailey, Richard G. Davies, Brenig L. Gwilym, Benjamin S. Stacey, Danny Walmsley, Michael H. Lewis, Josip Butkovic, Ivan Mumlek, Brad Perry, Zvonomir Vrselja, Shigehiko Ogoh, James A. Pawelczyk, Mohamad Bashir, Richard D. White, Ian M. Williams   +14 more
wiley   +1 more source

A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs. [PDF]

PLoS One, 2018
Dillard KJ, Hytönen MK, Fischer D, Tanhuanpää K, Lehti MS, Vainio-Siukola K, Sironen A, Anttila M.   +7 more
europepmc   +1 more source

Living Kidney Transplantation in a Patient With End-Stage Kidney Disease Due to Rare Juvenile Nail-Patella-Like Renal Disease Without <i>LMX1B</i> Mutation. [PDF]

Case Rep Transplant
Okabe T, Nakajima Y, Iwatsuki K, Maenosono R, Matsuda T, Tsuchida S, Hanamori T, Fujiwara Y, Nakamori K, Matsunaga T, Yoshikawa Y, Tsujino T, Matsumura H, Nomi H, Ashida A, Azuma H.   +15 more
europepmc   +1 more source

Hyponatremic-Hypertensive Syndrome as a Rare Manifestation of Renovascular Hypertension: A Case Series. [PDF]

Am J Case Rep
Bujanowicz A, Michalczewska A, Pytlos J, Skrzypczyk P.   +3 more
europepmc   +1 more source

Prognostic evaluation of boys with posterior urethral valves using a recursive feature elimination machine learning framework. [PDF]

Front Pediatr
Jaroy EG, Lundar L, Risa GT, Farstad IN, Aksnes G, Emblem R, Ougland R.   +6 more
europepmc   +1 more source