Results 101 to 110 of about 20,977 (214)

TTC21B: From Modifier to Causative Gene in Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri, Fulvio D'Abrusco, Anna Pichiecchio, Thouraya Ben Younes, Ichraf Kraoua, Enza Maria Valente   +5 more
wiley   +1 more source

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi, Céline Louveau, Bertrand Diebold, Natacha Gaitch, Arnaud Hubas, Martine Gautier Vallee, Jérôme Champ, Anais L'Haridon, Sophie Georgin Lavialle, Boris Chaumette, Thierry Bienvenu   +10 more
wiley   +1 more source

Spinal Involvement in a Pediatric and Adult Cohort of Patients With Arthrogryposis Multiplex Congenita

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This was a single‐center retrospective observational study with national recruitment from October 2007 to March 2022 at the AMC clinic of the University Hospital Grenoble Alpes (CHUGA). Participants underwent a clinical spinal assessment and spine radiography.
Alicia Mom, Véronique Bourg, Shenhao Dai, Alicia‐Marine Milot, Dominic Perennou, Klaus Dieterich   +5 more
wiley   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Osteoporosis and adult spinal deformity-a review for spinal surgeons by the SRS adult spinal deformity task force on senescence. [PDF]

Spine Deform
Lord E, Vincent M, Walker CT, Osorio J, Molina C, Jones K, van Hooff M, Theologis A, Yagi M, Blakemore L, Shah S, Hu S, de M, Kleuver, Pizones J, Kelly M, Pellise F, Ames C, Eastlack R, Scoliosis Research Society Adult Spinal Deformity Task Force Senescence Committee.   +19 more
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Commentary: Artificial Intelligence for Adult Spinal Deformity [PDF]

Neurospine, 2019
Lawrence G. Lenke
doaj   +1 more source

Achieving Correction and Mitigating Complications in Adult Spinal Deformity through an Anterior-Posterior Combined Approach. [PDF]

Yonsei Med J
Kim D, Jang HJ, Moon BJ, Park JY, Ha Y, Kuh SU, Chin DK, Kim KS, Oh JK, Kim KH.   +9 more
europepmc   +1 more source

Cortical Thickness and White Matter Surface Morphology in Tourette Syndrome: A Cohort Study

Annals of Neurology, EarlyView.
Objective To examine cortical thickness and white matter surface morphology in a large sample of individuals with Tourette syndrome (TS) and neurotypical controls across the lifespan, and to assess associations with symptom severity, comorbidities, and medication use.
Sahar Delavari, Adam C. Frank, Ravi Bansal, Flora M. Vaccarino, Robert A. King, Paul Lombroso, Lawrence Scahill, James F. Leckman, Bradley S. Peterson   +8 more
wiley   +1 more source

AO Spine Clinical Practice Recommendations: Sagittal Alignment Assessment and Planning in Adult Spinal Deformity Surgery. [PDF]

Global Spine J
Muñoz Montoya JE, Guerrero Cardozo JL.
europepmc   +2 more sources