Results 191 to 200 of about 406,691 (285)

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

Intelligent Orthopedics: Machine Learning in Diagnosis of Bone Disease, Implants, and Bone Health Monitoring

Advanced Healthcare Materials, Volume 15, Issue 38, 16 October 2026.
Efficient recovery from traumatic or degenerative diseases is a great challenge, even after all the advancements in bone and cartilage regeneration. Machine learning (ML) algorithms have presented opportunities to enhance these aspects by accurately analyzing imaging data.
Maryam Kamaei, Hesam Mohammadi, Shamim Golafshan, Mojtaba Alehosseini, Mahsa Mohammadzadeh, Atefeh Golshirazi, Nasim Golafshan, Tatiane Eufrásio‐da‐Silva, Alireza Dolatshahi‐Pirouz, Gorka Orive   +9 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

POEMS Syndrome: 2026 Update on Diagnosis, Risk‐Stratification, and Management

American Journal of Hematology, Volume 101, Issue 10, Page 2632-2651, October 2026.
ABSTRACT Disease Overview POEMS syndrome is a life‐threatening syndrome due to an underlying plasma cell neoplasm. The major criteria for the syndrome are polyneuropathy, clonal plasma cell disorder (PCD), sclerotic bone lesions, elevated vascular endothelial growth factor, and the presence of Castleman disease.
Angela Dispenzieri
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

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2331-2337, October 2026.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

A homozygous variant in <i>FGFR3</i> causing lethal skeletal dysplasia. [PDF]

Sudan J Paediatr
Rahbeeni Z, Al-Shahrani H, Noon M, Mohamed S.   +3 more
europepmc   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +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

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, Volume 9, Issue 10, Page 2104-2112, October 2026.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source