Results 251 to 260 of about 123,532 (341)

Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome

American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
ABSTRACT Sotos syndrome is a rare genetic disorder characterized by distinctive facial features, including a broad and prominent forehead, dolichocephaly, and learning disabilities ranging from mild to severe intellectual impairment. Affected individuals often show overgrowth in height and head circumference over two standard deviations.
Pasquale Di Letto, Alberto Budillon, Sarah Iffat Rahman, Francesca Del Vecchio Blanco, Mariateresa Zanobio, Margherita Scarpato, Margherita Russo, Maria Elena Onore, Giulio Piluso, TUDP Study Group, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Manuela Morleo, Nicola Brunetti Pierri, Giancarlo Parenti, Carmine Spampanato, Giulio Piluso, Michele Pinelli, Giuseppina Vitiello, Angelo Selicorni, Milena Mariani, Cecilia Daolio, Valeria Capra, Andrea Accogli, Marcello Scala, Francesca Nardecchia, Serena Galosi, Mario Mastrangelo, Donatella Milani, Corrado Romano, Pinella Failla, Donatella Greco, Chiara Pantaleoni, Claudia Ciaccio, Stefano D’Arrigo, Antonietta Coppola, Teresa Mattina, Marcella Zollino, Domizia Pasquetti, Federica L. Erario, Albina Tummolo, Claudia Santoro, Anna Grandone, Livia Garavelli, Carla Marini, Stefania Bigoni, Carmelo Piscopo, Antonio Trabacca, Marta De Rinaldis, Vincenzo Nigro, Gioacchino Scarano, Annalaura Torella   +52 more
wiley   +1 more source

Surgical treatment of Lenke type 5 curves using vertebral body tethering with double screw-double cord fixation. Clinical and radiological outcomes with minimum 5 years follow-up

Brain and Spine
M. Enercan, H. Mraja, B. Peker, H. Gok, U. Yuzuguldu, Y. Bilge Kagan, T. Sanli, O.L. Ulusoy, S. Karadereler, A. Hamzaoglu   +9 more
doaj  

Brace and physiotherapeutic scoliosis specific exercises (PSSE) for adolescent idiopathic scoliosis (AIS) treatment: A prospective study following scoliosis research society (SRS) criteria

Brain and Spine, 2021
Nikos Karavidas
doaj  

Three-dimensional digital design of orthopedic surgery for idiopathic scoliosis deformity: A case series. [PDF]

J Int Med Res
Liu B, Huang LL, Ding HW, Zeng XM, Sun GQ, Jiang MW, Liao YQ, Qi HR.   +7 more
europepmc   +1 more source

Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2 ‐Related Disorders to a Syndromic Multiple Tumor Phenotype

American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
ABSTRACT SETD2 has an essential role in epigenetic regulation. SETD2 pathogenic variants cause neurodevelopmental disorders (SETD2‐NDDs) that most commonly include various degrees of intellectual disability and behavioral disorders, macrocephaly, brain malformations, and generalized overgrowth.
Marie Lucain, Antonio Vitobello, Bekim Sadikovic, Juliette Albuisson, Léa Gaudillat, Martin Chevarin, Julien Maraval, Christel Thauvin‐Robinet, Jennifer Kerkhof, Christophe Philippe, Sophie Nambot, Laurence Faivre   +11 more
wiley   +1 more source

Understanding scoliosis

, 1974
G. F. Dommisse
openalex   +2 more sources

Strong support systems foster positive self-image in patients with scoliosis. [PDF]

Discov Ment Health
Glahn Castille M, Resendiz Ortega S.
europepmc   +1 more source

Paracetamol and its metabolites in children and adults with spinal muscular atrophy – a population pharmacokinetic model

British Journal of Clinical Pharmacology, Volume 91, Issue 7, Page 2045-2056, July 2025.
Abstract Aims The aim of the study was to investigate whether differences in paracetamol pharmacokinetics (PK) between spinal muscular atrophy (SMA) patients and healthy controls (HC) could be attributed to specific clinical covariates. Methods Nonlinear mixed‐effects modelling (NONMEM 7.4) was used to develop a population PK model, explore covariates ...
Qiaolin Zhao, Marie Mostue Naume, Brenda C. M. de Winter, Thomas Krag, Sissel Sundell Haslund‐Krog, Karoline Lolk Revsbech, John Vissing, Helle Holst, Morten Hylander Møller, Tessa Munkeboe Hornsyld, Morten Dunø, Christina Engel Hoei‐Hansen, Alfred Peter Born, Per Bo Jensen, Mette Cathrine Ørngreen   +14 more
wiley   +1 more source

Two-level versus multi-level fusion in posterior hemivertebra resection for congenital early-onset scoliosis: a 10-year comparative analysis of clinical outcomes and complication rates. [PDF]

J Orthop Surg Res
Peng Z, Du Y, Zhang H, Li C, Wang S, Zhang J.   +5 more
europepmc   +1 more source

Expanding the Phenotypic Spectrum of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency in Childhood: A Case Series

Clinical Case Reports, Volume 13, Issue 7, July 2025.
ABSTRACT Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare inborn error of folate metabolism. A number of phenotypic findings have been identified to date, and we hereby wish to expand its phenotype based on our Irish experience of the condition.
Eimear Loftus, Zaineb Elbishari, Patricia Fitzsimons, Caoimhe Howard, Yusra Sheikh, Bryan Lynch, Ellen Crushell, Ina Knerr   +7 more
wiley   +1 more source