Results 71 to 80 of about 1,873 (147)

Haplotype Construction Using Embryos as Probands of the Pathogenic Variations in EXT1, CUL3, and HBA

Human Mutation, Volume 2026, Issue 1, 2026.
Preimplantation genetic testing (PGT) represents a crucial strategy in the prevention of monogenic disorders, ensuring that only embryos free from these genetic conditions are implanted during assisted reproductive technologies. By analyzing the type of haplotypes of the variation of the probands or the carriers, we can significantly enhance the ...
Defeng Shu, Yi Liu, Xiaoli Wang, Tao Liang, Zubo Wu, Priya Gusain   +5 more
wiley   +1 more source

Novel Nonsense Mutation in SMARCD2 Gene Results in Dysplasia of All Myeloid Cell Lines

eJHaem, Volume 6, Issue 6, December 2025.
ABSTRACT Introduction Specific granule deficiency type II (SGD2) is a rare heterogeneous congenital disease characterized by early‐onset life‐threatening infections. SGD2 is caused by autosomal recessive mutations in the SMARCD2 gene. Methods Prenatal screening in our patient revealed a novel homozygous nonsense mutation in SMARCD2 (c.208C>T, p.Gln70*).
Michelle A. E. Brouwer, Arie Arensman, H. Rob Taal, Emilie P. Buddingh, Su Ming Sun, Anthon Hulsmann, Lenneke Waals‐Prinzen   +6 more
wiley   +1 more source

Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromas. [PDF]

, 2013
Multiple osteochondromas (MO) is an inherited skeletal disorder, and the molecular mechanism of MO remains elusive. Exome sequencing has high chromosomal coverage and accuracy, and has recently been successfully used to identify pathogenic gene mutations.
Liang, Jinlong, Ling Yang, Zhang, Yingang, Yan Wen, Liu, Xuanzhu, Qiang Li, Zhang, Zengtie, Wang, Jun, Lanlan Dai, Jinlong Liang, Yingang Zhang, Jun Wang, Li, Qiang, Feng Zhang, Zengtie Zhang, Weijuan Ma, Dai, Lanlan, Xuanzhu Liu, Guo, Xiong, Ma, Weijuan, Xiong Guo, Wen, Yan, Yang, Ling, Zhang, Feng   +23 more
core   +1 more source

Spine Osteochondromas: are they always rare and harmless? A case series of six symptomatic cases

Coluna/Columna
Osteochondroma is the most common benign bone tumor, though spinal involvement is rare. This study presents a case series of six symptomatic spinal osteochondromas, including both solitary forms and cases associated with multiple hereditary exostoses ...
GABRIEL FARIAS ALVES, ALDERICO GIRãO CAMPOS DE BARROS, LUíS E. CARELLI   +2 more
doaj   +1 more source

Nature-based interventions for individuals with rare skeletal disorders: evaluation of a 5-day sailing program on health-related quality of life

Scientific Reports
Individuals with rare skeletal disorders like Multiple Osteochondromas and Ollier Disease often experience physical and psychological burdens. Adventure therapy, with activities like sailing in outdoor settings, promotes personal growth and psychological
Manila Boarini, Andrea Romeo, Federico Banchelli, Eleonora Grippa, Silvia Forni, Maria Cecilia la Forgia, Davide Scognamiglio, Paolo Cornaglia Ferraris, Luca Sangiorgi   +8 more
doaj   +1 more source

MUTATIONS IN THE EXT1 AND EXT2 GENES IN SPANISH PATIENTS WITH MULTIPLE OSTEOCHONDROMAS [PDF]

, 2013
Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the  formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively.
P. Sarrión; A.Sangorrin; R. Urreizti ; A. Delgado ; R. Artuch ; L. Martorell ; J. Armstrong ; J, Anton; F.Torner ; M.A. Villaseca; J.Nevado ; P.Lapunzina ; C.G. Asteggiano; S. Balcells; D. Grinberg
core  

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively.
Urreizti Frexedas, Roser, Torner Rubies, Ferran, Asteggiano, Carla, Balcells Comas, Susana, Sangorrin, A., Artuch Iriberri, Rafael, Sarrión Pérez-Caballero, Patricia, Martorell, L., Lapunzina, P., Delgado, A., Antón López, Jordi, Grinberg Vaisman, Daniel Raúl, Armstrong i Morón, Judith, Vilaseca, M.A., Nevado, J.   +14 more
core   +3 more sources

Novel EXT1 variants cause divergent symptom severity in multiple cartilaginous exostoses: a family report

Egyptian Journal of Medical Human Genetics
Background Multiple cartilaginous exostoses (MCE) are a rare genetic disorder characterized by multiple osteochondromas in the metaphysis of long bones. Case Presentation.
Gozde Atasever Yildirim, Ozlem Anlas, Rabia Miray Kisla Ekinci   +2 more
doaj   +1 more source

Orthopedic preoperative evaluation and surgical strategies of hereditary multiple osteochondromas involving the spinal region

EFORT Open Reviews
Hereditary multiple osteochondromas (HMO), previously known as hereditary multiple exostoses (HME), is a congenital skeletal developmental anomaly characterized by multiple osteochondromas that commonly grow outward from the metaphyses of long bones ...
Shuzhong Liu, Jinyi Xing, An Song, Xi Zhou, Yong Liu   +4 more
doaj   +1 more source

Surgical Approach and Considerations for Compressive Thoracic Intraspinal Osteochondroma in Familial Hereditary Multiple Exostosis

Diseases
Introduction: Hereditary multiple exostosis or hereditary multiple osteochondromas is a very rare clinical condition. Usually, these lesions tend to occur in the pediatric population, remaining silent until adulthood.
Corneliu Toader, Antonio-Daniel Corlatescu, Nicolaie Dobrin, Razvan-Adrian Covache-Busuioc, Horia Petre Costin, Alexandru Vlad Ciurea   +5 more
doaj   +1 more source