Results 61 to 70 of about 10,063 (203)

Clinical and economic burden of achondroplasia in the United States: results from a retrospective, observational study

Orphanet Journal of Rare Diseases
Background Achondroplasia, a disease characterized by disproportionate short stature and increased morbidity, affects daily function and quality of life over the lifetime of the individual.
Nadia Merchant, Jose Alvir, Paulette Negron Ericksen, Jane Loftus, Jose Francisco Cara, Alison Slade, Michael P. Wajnrajch, Christine L. Baker   +7 more
doaj   +1 more source

Experiences of children and adolescents living with achondroplasia and their caregivers

Molecular Genetics & Genomic Medicine, 2022
Background Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene (FGFR3), leads to significant multisystem complications across the lifespan that may affect the health‐related quality of life (HRQoL) of ...
Renée Shediac, Olga Moshkovich, Heather Gerould, Rachel Ballinger, Agnes Williams, M. Alex Bellenger, Jennifer Quinn, Julie Hoover‐Fong, Klaus Mohnike, Ravi Savarirayan, Dominique Kelly   +10 more
doaj   +1 more source

Evaluation of a novel assay for detection of the fetal marker RASSF1A: facilitating improved diagnostic reliability of noninvasive prenatal diagnosis [PDF]

, 2012
BackgroundAnalysis of cell free fetal (cff) DNA in maternal plasma is used routinely for non invasive prenatal diagnosis (NIPD) of fetal sex determination, fetal rhesus D status and some single gene disorders.
Chitty, Lyn S., Crolla, John A., Dent, Carolyn L., Hall, Victoria J., Oudejans, Cees, White, Helen E.   +5 more
core   +3 more sources

A Case of Congenital Hypothyroidism in Cats: Diagnostic Challenges and Therapeutic Outcomes

Veterinary Medicine and Science, Volume 12, Issue 3, May 2026.
Congenital hypothyroidism in a 3‐year‐old Persian cat was diagnosed via low total thyroxine levels unresponsive to TSH stimulation, alongside clinical signs of dwarfism and renal failure. Levothyroxine therapy significantly improved renal function and activity within 1 week.
Morteza Ezati Kakalar, Farkhondeh Fahim Dezhban, Amin Zamani, Sina Sabour Razlighi   +3 more
wiley   +1 more source

Visual Assessment of Rib Cartilage Mineralization in Thoracic Radiographs as an Indicator of Age in Juvenile Dogs of Various Breeds

Veterinary Radiology &Ultrasound, Volume 67, Issue 3, May 2026.
ABSTRACT Anecdotally, the onset of mineralization of rib cartilage, as visualized by radiographic studies, is assumed to occur at 3 months of age. Determining radiographically the exact day when rib cartilage mineralization begins in juvenile dogs could aid in age estimation of young dogs with unknown histories.
Monika Isabel Hoppe, Carolin Fischer, Mareike‐Kristin Marx, Sebastian Schaub   +3 more
wiley   +1 more source

Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population

Nature Communications
Human craniofacial shape is highly variable yet highly heritable with numerous genetic variants interacting through multiple layers of development. Here, we hypothesize that Mendelian phenotypes represent the extremes of a phenotypic spectrum and, using ...
Michiel Vanneste, Hanne Hoskens, Seppe Goovaerts, Harold Matthews, Jay Devine, Jose D. Aponte, Joanne Cole, Mark Shriver, Mary L. Marazita, Seth M. Weinberg, Susan Walsh, Stephen Richmond, Ophir D. Klein, Richard A. Spritz, Hilde Peeters, Benedikt Hallgrímsson, Peter Claes   +16 more
doaj   +1 more source

Intervención desde la atención temprana en la familia de niños con acondroplasia [PDF]

, 2014
El objeto de la presente investigación es conocer el grado de información que las familias de niños con acondroplasia tienen en el momento del nacimiento de su hijo y de qué forma acceden a la misma, así como valorar las dificultades de la entrada a los ...
Aguilar Pache, Francisco Javier, Gordillo Gordillo, María Dolores, Gordillo Montaño, María José, Guillén Guillén, Elena, Peart, Mark Thomas, Pérez Ruiz, María Luisa   +5 more
core  

Pathogenic Role of FGFR3 Autoantibodies in Small Fiber Neuropathy

Advanced Science, Volume 13, Issue 22, 17 April 2026.
Autoantibodies against fibroblast growth factor receptor 3 (FGFR3) are identified as pathogenic drivers of pain in small fiber neuropathy. By binding to sensory neurons in dorsal root ganglia, FGFR3 autoantibodies activate MAPK signaling and induce hyperexcitability and mechanical hypersensitivity, establishing FGFR3 autoantibodies as a therapeutic ...
Lyuba Y. Salih, Nicolas L.A. Dumaire, Clémence Gieré, Erin Vest, Haya Alkhateeb, Christian P. Moritz, Yannick Tholance, Jean‐Philippe Camdessanché, Jean‐Christophe Antoine, Jérôme Honnorat, Jafar Kafaie, Liberty François‐Moutal, Aubin Moutal   +12 more
wiley   +1 more source

Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study

Orphanet Journal of Rare Diseases, 2023
Background Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene, is the most common skeletal dysplasia. The Lifetime Impact of Achondroplasia Study in Europe (LIAISE; NCT03449368) aimed to quantify the burden of ...
Mohamad Maghnie, Oliver Semler, Encarna Guillen-Navarro, Angelo Selicorni, Karen E. Heath, Gabriele Haeusler, Lars Hagenäs, Andrea Merker, Antonio Leiva-Gea, Vanesa López González, Adalbert Raimann, Mirko Rehberg, Fernando Santos-Simarro, Diana-Alexandra Ertl, Pernille Axél Gregersen, Roberta Onesimo, Erik Landfeldt, James Jarrett, Jennifer Quinn, Richard Rowell, Jeanne Pimenta, Shelda Cohen, Thomas Butt, Renée Shediac, Swati Mukherjee, Klaus Mohnike   +25 more
doaj   +1 more source

EXAMINING THE RELATIONSHIP BETWEEN GENETIC COUNSELORS’ IMPLICIT ATTITUDES TOWARD DISABILITY AND THEIR PRACTICE METHODS [PDF]

, 2018
Genetic counselors serve as a link between the medical community and the disability community as they are regularly the first exposure families have following a new diagnosis in a pregnancy, infant or child.
Gould, Helen W
core   +1 more source