Results 151 to 160 of about 13,600 (265)

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Clinical Faceoff: The Role of Elective Bilateral Lower Limb Lengthening for Gaining Height. [PDF]

Clin Orthop Relat Res
Sabharwal S, Paley D, Birch J.
europepmc   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Erratum: Mechanical Axis Deviation Shift in Limb Lengthening Over the Anatomical Axis, a Retrospective Analysis. [PDF]

JB JS Open Access
Al Ramlawi A, McClure P, Herzenberg JE, Assayag M.   +3 more
europepmc   +1 more source

Limb lengthening with PRECICE magnetic nail in pediatric patients: A systematic review. [PDF]

World J Orthop, 2021
Masci G, Palmacci O, Vitiello R, Bonfiglio N, Bocchi MB, Cipolloni V, Maccauro G, Pola E.   +7 more
europepmc   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Accuracy and Actionability of TikTok Content on Cosmetic Limb Lengthening: A Comparison between Healthcare Professional and Non-professional Sources. [PDF]

Strategies Trauma Limb Reconstr
Al Ramlawi A, Sidani M, Missi C, Assayag M, McClure PK.   +4 more
europepmc   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

Complications after cosmetic limb lengthening, a specialized center experience. [PDF]

J Orthop
Al Ramlawi A, Over DJ, Assayag M, McClure P.   +3 more
europepmc   +1 more source

Chrysin alleviates pressure overload–induced myocardial remodeling through regulating the PI3K/AKT/NRF2 pathway–mediated oxidative stress response

Animal Models and Experimental Medicine, EarlyView.
In this study, we primarily simulated pathological myocardial remodeling induced by transverse aortic constriction surgery and found significant cardiac hypertrophy and fibrosis, characterized by deteriorated cardiac function. Oxidative stress response is considered as a pivotal pathological process, which contributes to inflammation and apoptosis of ...
Yijia Wang, Xing Feng, Shuhui Zhao, Yuchong Fu, Ao Zhang, Xiaofeng Shen, Bowen Yu, Yihao Wang, Jiahui Lin, Bing Zhang, Weiping Ji, Lianpin Wu, Xiaoling Guo   +12 more
wiley   +1 more source