Results 61 to 70 of about 30,903 (207)

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval

Clinical Genetics, EarlyView.
This study reports a female proband with a de novo 9q34.11 deletion affecting SET, who underwent a 28‐year diagnostic odyssey after an atypical Rett syndrome clinical diagnosis. Genomic and proteomics analyses confirmed SET haploinsufficiency, refining the critical 9q34.11 region, and supporting speech therapy benefits in improving meaningful ...
Angelo Condell, Elaine Zhang, Tim Sikora, Sean Massey, Nicole J. Van Bergen, Min Wang, Cas Simons, Katrina M. Bell, Daniella H. Hock, David A. Stroud, David Francis, Wendy A. Gold, Martin B. Delatycki, John Christodoulou, Simranpreet Kaur   +14 more
wiley   +1 more source

Thoracic kyphosis is now uncommon amongst children and adolescents with cystic fibrosis

Frontiers in Pediatrics, 2014
Historically, thoracic kyphosis has been reported to be common amongst patients with cystic fibrosis. The mechanisms leading to the development of this abnormality of the chest wall are not fully understood.
Nicki eBarker, Ashok eRaghavan, Pauline eButtling, Kostas eDouros, Mark Lloyd Everard   +4 more
doaj   +1 more source

Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita

Clinical Genetics, EarlyView.
We report on two individuals with arthrogryposis multiplex congenita who were heterozygous for ACTC1 missense variants (NM_005159.5; c.325G>A, p.Glu109Lys and c.650A>C, p.Lys217Thr) and provide a characterization of these variants through in vitro studies.
Lauren Kerr, Pierre Moffatt, Lauren Hyer, Sarah Nossov, Noémi Dahan‐Oliel, Frank Rauch   +5 more
wiley   +1 more source

Phenotypic Clues in Infantile‐Onset Parkinsonism‐Dystonia‐2: A Treatable Neurotransmitter Disorder

Movement Disorders Clinical Practice, EarlyView.
Sangeetha Yoganathan, Haya S. AlFaris, Lindsey Vogt, Michele Eid, Anika Menetrey, Sayoni Roy Chowdhury, Dawn Codeiro, Pradeep Krishnan, Liali Aljouda, Emily W.Y. Tam, Carolina Gorodetsky   +10 more
wiley   +1 more source

Pejerrey (Odontesthes bonariensis) Under Siege: Main Infectious Diseases and Their Role in Aquaculture and Wild Populations Amidst Environmental Change

Journal of Fish Diseases, Volume 48, Issue 4, April 2025.
ABSTRACT The pejerrey (Odontesthes bonariensis) is a key species for recreational and commercial fisheries in Argentina and holds significant aquaculture potential. It has been introduced to various countries worldwide, including Japan, where intensive aquaculture has developed.
Aarón Torres‐Martínez, Miguel Mancini, Fabian Grosman, Gustavo Manuel Somoza, Carlos Augusto Strüssmann   +4 more
wiley   +1 more source

Cumulative effects of lifelong systemic excess growth hormone on postcranial skeletal morphology in adult mice

Journal of Anatomy, EarlyView.
Our μCT‐based pilot study reveals size and shape disparity in the adult postcranial skeleton of growth‐hormone model (bGH) mice relative to wild‐type mice. bGH mice have larger and more sexually dimorphic bones, with a systemic radiodensity increase in bony sesamoids and associated, but typically uncalcified, soft tissues.
Joseph R. Groenke, Huanhuan Liu, Grace Lach, Abhishek Wajpe, Darlene Berryman, John J. Kopchick, Shouan Zhu, Patrick M. O'Connor   +7 more
wiley   +1 more source

Correlation of Kyphosis and Wedge Angles with Outcome after Percutaneous Vertebroplasty: A Prospective Cohort Study

Journal of Orthopaedic Surgery, 2011
Purpose. To evaluate the correlation of kyphosis and wedge angles with pain relief and functional outcome after percutaneous vertebroplasty (PV). Methods.
Ketan Khurjekar, Ashok K Shyam, Parag K Sancheti, Darshan Sonawane   +3 more
doaj   +1 more source

Evaluation of the Efficacy of a Comprehensive Spinal Muscle Training Protocol with and without Functional Electrical Stimulation in Elderly with Functional Kyphosis

مجله پژوهش در علوم توانبخشی, 2017
Introduction: This study aimed to evaluate the efficacy of a comprehensive spinal muscle training protocol with and without functional electrical stimulation in elderly with functional kyphosis.
Neda Shariatinia, Amir Letafatkar, Seyyed Sadrodin Shojaedin, Maliheh Haddadnejad   +3 more
doaj   +1 more source

The Same Homozygous Pathogenic Variant in CHAT Underlies Lethal Fetal Akinesia Syndrome in Three Xhosa South African Fetuses

Prenatal Diagnosis, EarlyView.
Jade Ramini, Cumine van Tonder, Yolandi Swart, Kerry Rademan, Samantha Budhram, Lut Geerts, Shahida Moosa   +6 more
wiley   +1 more source

Unilateral Dual‐Plane Puncture Percutaneous Vertebroplasty Reduces Re‐Collapse in Osteoporotic Vertebral Compression Fractures by Advancing Cement Delivery

Orthopaedic Surgery, Volume 17, Issue 5, Page 1322-1331, May 2025.
Trajectory of the unilateral dual‐plane puncture. The sagittal CT scan after surgery clearly shows the puncture trajectory of the unilateral dual‐plane puncture. The bone cement simultaneously contacted both the upper and lower end plates. ABSTRACT Purpose Evaluate the efficacy of a novel unilateral dual‐plane puncture technique in improving bone ...
Huo‐Liang Zheng, Chang‐hai Liu, Lei‐Sheng Jiang, Xin‐Feng Zheng, Sheng‐Dan Jiang   +4 more
wiley   +1 more source