Results 231 to 240 of about 77,053 (361)

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

Emerging basic science concepts in geriatric fracture fixation and patient recovery. [PDF]

OTA Int
Mau M, Leucht P, Frihagen F, Duque G, Yoon R, Schemitsch E, Haller J.   +6 more
europepmc   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Using the simple locking intramedullary (SLIM) system for bone deformity stabilization: A retrospective cohort study. [PDF]

J Child Orthop
Mounsef PJ, Addab S, Alfaisali S, Bernstein M, Hamdy R.   +4 more
europepmc   +1 more source

On the Prospects for African Philosophy in Australia

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper grapples with the situation of people of African descent in Australia by working through the constitution of the body of academic philosophy in the country. It contends with the parochialism of the Australian philosophical community and the prospects for the cultivation of greater pluralism. Taking African philosophy as one possible
Bryan Mukandi
wiley   +1 more source

Development and validation of a 3D printed foot length scale for predicting intramedullary nail lengths for long bone fractures. [PDF]

3D Print Med
Chabihi Z, Demnati B, Soleh A, Fath El Khir Y, Boumediane EM, Benhima MA, Abkari I.   +6 more
europepmc   +1 more source

Vitamin D‐induced mechanisms in cancer prevention and therapy: Recent advances and future opportunities

Animal Models and Experimental Medicine, EarlyView.
Vitamin D, traditionally known to promote calcium and bone health, is being explored for its role in cancer prevention and treatment through its influence on cell proliferation, differentiation, apoptosis, and immune response. The vitamin D receptor (VDR) regulates gene expression and interacts with key signaling pathways such as Wnt/β‐catenin, MAPK ...
D. Prasanth, Pathan Amanulla Khan, Jamal‐E‐Fatima, Trupti Pratik Durgawale, Falak Arjumand Siddique, Sharuk L. Khan, Azmath Farhana, Uttam Prasad Panigrahy, Mohammed Abdul Aziz shahid, Mohammed Sayeed, Md. Faysal   +10 more
wiley   +1 more source

SURGICAL TREATMENT OF TIBIAL STRESS FRACTURE: NAIL X PLATE. [PDF]

Acta Ortop Bras
Lara PHS, Cabello GL, Domingues DC, Bezerra DC, de Albuquerque AB, Belangero PS.   +5 more
europepmc   +1 more source

Management of pediatric unstable diaphyseal both-bone forearm fractures (AO 22-D4 and AO 22-D5), A comparison between the results of intramedullary nailing using titanium elastic nail systems versus K-wires in the rural Indian children: A prospective study

, 2022
Santosh Kumar Singh, Prashant Pratap Singh, Jitesh Arora, S.P.S. Gill, Laxminath Mishra, Pulkesh Singh   +5 more
openalex   +1 more source

Buried Treasure? Overlooked and Newly Discovered Evolutionary Contributions to Human Brain Diseases

Annals of Neurology, EarlyView.
Recapitulative schema of different exploratory levels of the evolutionary impact on human neurological diseases. Clinical neuroscience focuses on the mechanisms of brain function, but this approach falls short of insights into how the central nervous system (CNS) evolved, both in health and disease.
Nico J. Diederich, Martin Brüne, John S. Allen, Nicole Bender, Emiliano Bruner, Jean‐Pierre Changeux, Corrado Cali, Olga Dolgova, Anne Grünewald, Geneviève Konopka, Peng Jin, Roger Lemon, Gilberto Levy, Pierre Magistretti, Markus J. Rantala, Kathleen S. Rockland, Roger Sullivan, Annie Swanepoel, Toshiki Uchihara, Katrin Amunts, Christopher G. Goetz   +20 more
wiley   +1 more source