Results 131 to 140 of about 50,678 (282)

Anatomical Variations in Bilateral Hand Oligodactyly: A Case Analysis of Cleft Hand. [PDF]

Diagnostics (Basel)
Hur MS, Shim JW, Bae JH, Kang JS, Nam KI, Oh CS.   +5 more
europepmc   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Impact of the Ilizarov apparatus on external fixation: Current modifications of the 75-year-old orthopedic tool. [PDF]

World J Orthop
Sutyagin I, Malkova TA.
europepmc   +1 more source

Variant Update on ASCC1 : Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 744-748, March 2026.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit, L. Kerbellec, D. Laurenceau, D. C. Ung, M. P. Moizard, N. Ronce, P. Gueguen, F. Laumonnier, A. C. Bréhin, F. Marguet, A. Laquerrière, A. M. Bergemer Fouquet, J. Cirier, S. Blesson, S. Arpin, M. Jeanne, M. L. Vuillaume   +16 more
wiley   +1 more source

The role of genetics and molecular mechanisms in early onset scoliosis. [PDF]

J Clin Orthop Trauma
Feng S, Du Y, Choi SW, Cheung KSC, Cheung JPY, Su Z.   +5 more
europepmc   +1 more source

Congenital Deformity of the Forearm and Hand [PDF]

Proceedings of the Royal Society of Medicine, 1929
openaire   +2 more sources

Population‐Based Cohort Study for Development of National Retinopathy of Prematurity Screening Criteria

Acta Paediatrica, Volume 115, Issue 3, Page 671-678, March 2026.
ABSTRACT Aim Screening criteria for retinopathy of prematurity (ROP) vary among countries. Early detection of ROP and minimising the burden of screening are important. Methods We analysed data from very preterm infants born in Switzerland between 2006 and 2022.
R. Gerull, C. Sanchez, A. Atkinson, M. Schuler‐Barazzoni, M. Adams, F. Barcos Munoz, C. Gerth‐Kahlert, S. M. Schulzke, on behalf of the Swiss Neonatal Network, Ph. Meyer, L. Eisenhut, M. Bryant, A. Kidszun, T. Riedel, M. Gebauer, B. Rogdo, B. Wagner, R. E. Pfister, J.‐F. Tolsa, J. Schneider, M. Stocker, P. Gessler, B. Laubscher, J. Llor, A. Malzacher, A. Birkenmaier, L. Hegi, V. Bernet, M. Tomaske, D. Bassler, V. Cannizzaro, C. Hagmann   +31 more
wiley   +1 more source

Soft tissue balancing procedure with CASC assessment system for postaxial polydactyly and curled fifth toe deformity. [PDF]

BMC Musculoskelet Disord
Liao W, Xu L, Wang D, Wang B, Zhang Z.
europepmc   +1 more source

Swiss Recommendations for the Perinatal Care of Extremely Low Gestational Age Neonates

Acta Paediatrica, Volume 115, Issue 3, Page 563-576, March 2026.
ABSTRACT Aim To revise the 2011 Swiss recommendations for the perinatal care of extremely low gestational age neonates (ELGANs). Methods Based on review of recent literature, experts from various medical specialties involved in the perinatal care of ELGANs made suggestions for revisions.
Thomas M. Berger, Markus Hodel, Giancarlo Natalucci, Mark Adams, Jean‐Claude Fauchère, on behalf of the Swiss Working Group on Perinatal Care of ELGANs, Mark Adams, Thomas M. Berger, Christine Diebold, Barbara Dinten, Jean‐Claude Fauchère, Deborah Gubler, Maya Hendriks, Markus Hodel, Christian Kind, Begoña Martinez de Tejada, Giancarlo Natalucci, Riccardo E. Pfister, Sven Schulzke, Daniel Surbek, Anita C. Truttmann   +20 more
wiley   +1 more source

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, Volume 109, Issue 3, Page 424-436, March 2026.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source