Results 191 to 200 of about 385,840 (284)

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

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
A multidisciplinary strategy that integrates deep phenotyping with expert genetic interpretation substantially increases the likelihood of reaching a diagnosis in adults suspected of having an IMD. ABSTRACT Inherited metabolic disorders (IMDs) arise from defects in metabolic pathways essential for normal biochemical function.
Machteld M. Oud, Elise A. Ferreira, Clara D. M. van Karnebeek, Robin Wijngaard, Nicole I. Wolf, Marc Engelen, Mareen Datema, Sacha Ferdinandusse, André B. P. van Kuilenburg, Laura Steinbusch, Saskia N. van der Crabben, Mirjam Langeveld, on behalf of the ZOEMBA Study Group   +12 more
wiley   +1 more source

Sequential prenatal diagnosis of fetal skeletal dysplasia: A cohort study. [PDF]

Acta Obstet Gynecol Scand
Jiang M, Zhang B, Wang J, Qiao W, Mao X, Yu B.   +5 more
europepmc   +1 more source

The Impact of Hydrotherapy on Health‐Related Quality of Life, Pain and Mobility in Individuals With Mucopolysaccharidosis Type II (Hunter Syndrome): A Pilot Feasibility Study

JIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Enzyme Replacement Therapy (ERT) is the clinical standard for Mucopolysaccharidosis II (MPSII), yet its limited penetration into poorly vascularised tissues such as bone, cartilage and heart valves leaves participants with significant musculoskeletal morbidity.
Andrew Oldham, Nicole Stockton, Mark Warburton, Calvin Heal, Marie Meehan, Karolina M. Stepien, on behalf of the MPS Society   +6 more
wiley   +1 more source

Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia. [PDF]

Eur J Hum Genet
Jacob P, Singh S, Bhavani GS, Gowrishankar K, Narayanan DL, Nampoothiri S, Patil SJ, Soni JP, Muranjan M, Kapoor S, Dhingra B, Bhat BV, Bajaj S, Banerjee A, Mamadapur M, Hariharan SV, Kamath N, Shenoy RD, Suri D, Shukla A, Dalal A, Phadke SR, Nishimura G, Mortier G, Shah H, Girisha KM.   +25 more
europepmc   +1 more source

Advances in FGF/FGFR Signaling: Implications for Disease and Therapy

MedComm, Volume 7, Issue 9, September 2026.
The FGF/FGFR signaling is indispensable for the maintenance of physiological homeostasis and governs multiple biological processes, including embryonic development, bone metabolism, angiogenesis, and neurogenesis, whereas aberrant hyperactivation of this pathway drives the progression of malignancies and autoimmune disorders, including inflammatory ...
Miaoyu Song, Xi Liu, Yang Xiao, Yongsheng Li, Huakan Zhao   +4 more
wiley   +1 more source

Severe pulmonary hypertension in a small-for-date neonate with skeletal dysplasia. [PDF]

BMJ Case Rep
Mohamed K, Bayoumi MAA, Rahmath MR, Elmalik EE.   +3 more
europepmc   +1 more source

Novel TCOF1 Frameshift Variant and Phenotypic Heterogeneity in a Chinese Family With Treacher Collins Syndrome

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
Using whole‐exome sequencing, we identified a novel TCOF1 frameshift variant (c.1601_1602delCC, p.Pro534Leufs*15) in a Chinese family with Treacher Collins syndrome. The variant produces a severely truncated Treacle protein lacking key functional domains.
Feiyang Fan, Ying Chen, Tianyu Zhang, Jing Ma   +3 more
wiley   +1 more source

Balancing independence: Priorities, tensions, obstacles, and facilitators for independence among young adults with skeletal dysplasia and short stature. [PDF]

J Genet Couns
Ricks SJ, Johnson J, Ayers KB, Pena LDM.
europepmc   +1 more source

Radial Reconstruction With Fibular Free Flap Using CAD‐CAM and Virtual Surgical Planning in Pediatric Pseudoarthrosis due to Neurofibromatosis Type 1: A Case Report and Literature Review

Microsurgery, Volume 46, Issue 6, September 2026.
ABSTRACT Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that causes skeletal dysplasia and congenital pseudoarthrosis of the forearm, which is very difficult to repair. The vascularized free fibular flap (FFF) is the standard treatment.
Alicia Dean, Manuel Román Torres, Concepción Centella Gutiérrez, Guillermo Rodríguez Martínez, Genoveva Molina Pérez, Francisco Alamillos Granados   +5 more
wiley   +1 more source