Results 141 to 150 of about 21,705 (315)

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

Novel Technique to Remove Intramedullary Nails with Difficult End Caps Using Minimal Instrumentation: A Case Report. [PDF]

JBJS Case Connect
Ayoub M.
europepmc   +1 more source

Use of flexible intramedullary nailing in treating diaphyseal fractures of long bone of lower limb in children

, 2019
SanjayKumar Ghilley, ManojKumar Meena, Purushottam Jhanwar, HarishKumar Jain   +3 more
openalex   +1 more source

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

Long-term implant retention after impacted elastic stable intramedullary nailing in pediatric diaphyseal forearm fractures: a retrospective cohort study. [PDF]

Acta Orthop
Brattgjerd JE, Aasheim C, Rosenberg A, Fotland C, Halvorsen V.   +4 more
europepmc   +1 more source

Abnormal Bone Thickening along an Intramedullary Nail away from Fracture Site Could Be a Broken Nail

Kishore V A Bala
openalex   +1 more source

The Effect of Bone Quality on Treatment of Intertrochanteric Fractures with Helical Blade Versus Lag Screw Fixation in Cephalomedulary Nails

, 2023
Alexander C.M. Chong, Jillian Schommer, Jordan D. Shearer, Tysen K. Timmer, Anthony Brown   +4 more
openalex   +2 more sources

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +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

Bone transport in the management of fracture-related infection: current concepts and innovations. [PDF]

J Bone Jt Infect
Metsemakers WJ, Fragomen AT, Morgenstern M, Rosslenbroich SB, Quinnan SM, Corona PS, Bernstein M, Tetsworth K.   +7 more
europepmc   +1 more source