Results 181 to 190 of about 406,691 (285)

Skeletal dysplasias. [PDF]

BMJ, 1987
openaire   +2 more sources

Osteochondritis dissecans in the medial femoral condyle in a cat with bilateral medial patellar luxation and hip dysplasia

Veterinary Record Case Reports, Volume 14, Issue 4, November 2026.
Abstract A 5‐month‐old female domestic shorthair cat was presented due to a 3‐month history of intermittent hindlimb lameness. Physical examination, radiographs and computed tomography were indicative of osteochondritis dissecans (OCD) in the right medial femoral condyle, accompanied by bilateral medial patellar luxation (MPL) and bilateral hip ...
Ute Wiesbauer, Andrea Klang, Roxana Merca, Kristina Anna Lederer   +3 more
wiley   +1 more source

The intracellular localization and the ionic permeation of TRPV6 triggers chronic pancreatitis, skeletal dysplasia and is connected to mucolipidosis type II. [PDF]

Cell Commun Signal
Fecher-Trost C, Gehl AL, Trunk A, Hellmich J, Wesely C, Löhr H, Buchholz S, Cole M, Beck A, Meyer MR, Wissenbach U.   +10 more
europepmc   +1 more source

Effectiveness of Recombinant Human Growth Hormone Therapy in Small‐for‐Gestational‐Age Children With Short Stature: A Stratified Analysis Based on Genetic Variant Status

Clinical Endocrinology, Volume 105, Issue 5, Page 556-564, November 2026.
ABSTRACT Objective This study aimed to evaluate the impact of pathogenic genetic variants on growth outcomes following 3 years of recombinant human growth hormone (rhGH) therapy in children born small for gestational age with persistent short stature (SGA‐SS). Design A retrospective cohort study.
Sanghee Park, Yena Lee, Hwal Rim Jeong, Eun Young Kim, Eu‐seon Noh, Hye young Jin, Eun Byul Kwon, Hye Jin Lee, Young‐Jun Seo, Young Suk Shim, Su Jin Kim, Ji‐Eun Lee, Nan Young Kim, Sangkyoon Hong, Min Jae Kang, Il Tae Hwang   +15 more
wiley   +1 more source

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia. [PDF]

J Clin Invest
Masson A, Paccaud J, Orefice M, Colin E, Mäkitie O, Cormier-Daire V, Relator R, Ghosh S, Strub JM, Schaeffer-Reiss C, Marcelis C, Koolen DA, Pfundt R, de Boer E, Vissers LE, Gardeitchik T, Aarts LA, Rinne T, Terhal PA, Verbeek NE, Zuurbier LC, Plomp AS, Wessels MW, de Man SA, Bouman A, Bird LM, Saadeh-Haddad R, Guillen Sacoto MJ, Person R, Gooch C, Hurst AC, Thompson ML, Hiatt SM, Littlejohn RO, Roeder ER, Mori M, Hickey SE, Hunter JM, Lee K, Osman K, Halloun R, Bachmann-Gagescu R, Rauch A, Wieczorek D, Platzer K, Luppe J, Duplomb-Jego L, El It F, Duffourd Y, Tran Mau-Them F, Huber C, Gordon CT, Taylan F, Mäkitie RE, Costantini A, Valta H, Robertson S, Poke G, Francoise M, Ciolfi A, Tartaglia M, Ekhilevitch N, Zaid R, Levy MA, Kerkhof J, McConkey H, Delanne J, Chevarin M, Vautrot V, Bourgeois V, Nguyen S, Marle N, Callier P, Safraou H, Morgan A, Amor DJ, Hildebrand MS, Coman D, Aubert Mucca M, Thevenon J, Laffargue F, Bilan F, Pebrel-Richard C, Yoon G, Axford MM, Pérez-Jurado LA, Sevilla-Porras M, Black DL, Philippe C, Sadikovic B, Thauvin-Robinet C, Olivier-Faivre L, Ori M, Thomas Q, Vitobello A.   +94 more
europepmc   +1 more source

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

Identification of a Novel Homozygous <i>IHH</i> Variant Causing Novel Acromesomelic Maroteaux-Type Skeletal Dysplasia in a Pakistani Family. [PDF]

Balkan J Med Genet
Hanif M, Ahmad B, Farman S, Hassan S, Hayat A, Bibi N, Kalsoom U, Khan B.   +7 more
europepmc   +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

Unexpectedly high levels of normally spliced transcripts from the pathogenic SLC10A7 alleles in a recessive form of skeletal dysplasia. [PDF]

HGG Adv
Zhao XC, Zhang ZC, Ye WL, Ye YY, Wang LT, Zheng XQ, Chang YB, Chen C.   +7 more
europepmc   +1 more source

Ocular Manifestations of Infectious Salmon Anaemia Virus Infection in Atlantic Salmon (Salmo salar)

Journal of Fish Diseases, Volume 49, Issue 11, November 2026.
ABSTRACT Eyes are essential sensory organs needed by teleost Atlantic salmon for high visual acuity and survival in both the wild and in aquaculture settings. In this work, we assessed the ocular manifestations of Infectious Salmon Anaemia Virus (ISAV) infection in Atlantic salmon by a cohabitation‐mediated infection assay and histological and ...
Emily Mahon, Rebecca R. Kwabiah, Hélène Paradis, Manuel A. Soto‐Dávila, Sathees Duglas, Raja Ram Gurung, Thurka Paramanathan, Ignacio Vasquez, Shams Al‐Badoosh, John Law, Javier Santander, Mark D. Fast, Robert L. Gendron   +12 more
wiley   +1 more source