Results 251 to 260 of about 152,173 (338)

Infantile Cerebellar‐Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model

Clinical Genetics, EarlyView.
Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl, Suchika Garg, Marie Monaghan, Amy Preston, Marcus Likeman, Julianne Dare, Julie Evans, Lucie S. Taylor, Ian Berry, Kathryn Urankar, Paul G. D. Spry, Cathy Williams, Robert W. Taylor, Charlotte L. Alston, James J. L. Hodge, Anirban Majumdar   +15 more
wiley   +1 more source

Outcomes of internal fixation with Femoral Neck System (FNS) for intracapsular femoral neck fractures. [PDF]

OTA Int
Tarrant SA, Mitchell BP, Blankespoor MG, Littell ZD, Zackula RE, Lais RL, Dart BR.   +6 more
europepmc   +1 more source

Diagnosis of Angelman Syndrome, With 66 Years of Delay, Using Hypothesis‐Free DNA Methylation Profiling

Clinical Genetics, EarlyView.
Hypothesis‐free DNA methylation profiling in a 66‐year‐old male with unexplained neurodevelopmental disorder enabled the exclusion of ZNF142‐related disease (left panel) and led to a retrospective diagnosis of Angelman syndrome, highlighting the diagnostic potential of single‐patient epigenetic screening (right panel).
Mathis Hildonen, Marco Ferilli, Ilona Krey, Oona Kohnen, Camilla Cappelletti, Konrad Platzer, Andrea Ciolfi, Rami Abou Jamra, Marco Tartaglia, Zeynep Tümer   +9 more
wiley   +1 more source

Establishment and validation of a predictive nomogram for preoperative deep vein thrombosis in elderly patients with isolated femoral neck fracture. [PDF]

Sci Rep
Wang T, Yin H, Li C, Li C, Wu D, Yang Z, Zhang X, Zhang Y, Zhu Y.   +8 more
europepmc   +1 more source

Some problems in the treatment of the femoral neck fraccture above 70 years old.

, 1985
Tatsuo Kutsuna, Kazuyuki Moriyama, Masahiro Shimada, Shinichi Masukawa   +3 more
openalex   +2 more sources

Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology

Clinical Genetics, EarlyView.
The proposed updated classification of humeroradial synostosis is based on the molecular pathways of the genes involved: (1) chondrogenesis and osteogenesis; (2) limb development and patterning; (3) genome regulation. Thus, pathologies belonging to the same molecular type may have overlapping clinical phenotypes, helping to structure the diagnostic ...
Fiona Leduc, Clémence Vanlerberghe, Fabienne Escande, Perrine Brunelle, Florence Petit, Anne Dieux   +5 more
wiley   +1 more source

Retraction: Difference of Neck Shortening in Femoral Neck Fracture between Femoral Neck System and Multiple Cannulated Cancellous Screws: Single Center, Prospective Randomized Controlled Trial. [PDF]

Hip Pelvis
Gupta S, Elhence A, Banerjee S, Yadav S, Kantiwal P, Rajnish RK, Khera P, Malhotra R.   +7 more
europepmc   +1 more source

Femoral Shape Analysis by Bi-plane X-ray Photogrammetry : Graphic Display and Calculation of Anteversion Angle and Neck-shaft Angle

, 1986
Tamotsu TAMAKl, Eisaku Umezaki, Masatsune Yamagata, Shun-ichi Inoue, Kiyonao YAMAGUCHI, Kazuhisa Takahashi   +5 more
openalex   +2 more sources

Radiographic Peri‐Implant Bone Changes in Osteoporotic Women Treated With a Ti‐Zr, Bone Level Tapered Implant With a Hydrophilic Surface: A 12‐Month Prospective Case‐Series

Clinical Oral Implants Research, EarlyView.
ABSTRACT Objectives This study assessed 12‐month post‐loading 3D peri‐implant radiographic bone changes in osteoporotic women receiving a single titanium‐zirconium bone‐level tapered dental implant with a hydrophilic surface. Materials and Methods This was a prospective case series involving 18 post‐menopausal osteoporotic women in need of a single ...
Calciolari Elena, Mardas Nikos, Palaska Iro, Tagliaferri Sara, Donos Nikolaos   +4 more
wiley   +1 more source

Treatment of a femoral neck fracture in a patient with dwarfism: a case report. [PDF]

BMC Musculoskelet Disord
Zhao J, Chen L, He K, Li M, Li Z, Lin H, Li S.   +6 more
europepmc   +1 more source