Results 91 to 100 of about 24,851 (250)

The paradox of cancer genes in non-malignant conditions: implications for precision medicine. [PDF]

, 2020
Next-generation sequencing has enabled patient selection for targeted drugs, some of which have shown remarkable efficacy in cancers that have the cognate molecular signatures.
Adashek, Jacob J, Kato, Shumei, Kurzrock, Razelle, Lippman, Scott M   +3 more
core  

Survival to amputation in pre-antibiotic era: a case study from a Longobard necropolis (6th-8th centuries AD) [PDF]

, 2018
The Longobard necropolis of Povegliano Veronese dates from the 6th to the 8th centuries AD. Among the 164 tombs excavated, the skeleton of an older male shows a well-healed amputated right forearm.
Boggioni, Marco, Di Vincenzo, Fabio, Giostra, Caterina, Manzi, Giorgio, Massani, Danilo, Micarelli, Ileana, Paine, Robert, Papini, Andrea, Profico, Antonio, Tafuri, Mary Anne   +9 more
core   +1 more source

Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation

American Journal of Medical Genetics Part A, Volume 200, Issue 1, Page 215-222, January 2026.
ABSTRACT Apert syndrome is a recognizable craniofacial condition characterized by craniosynostosis, hypertelorism, exorbitism, midface hypoplasia, and complex symmetrical bony and cutaneous ‘mitten’ syndactyly of all four limbs. Around 98% of affected patients have one of two heterozygous missense variants in the FGFR2 gene, encoding either p ...
Ramy Saad, Claire Lawn, Honor Gartland, Louisa Steel, Caitlin Barns‐Jenkins, Greg James, Eleanor Hay, Andrew O. M. Wilkie, Louise C. Wilson   +8 more
wiley   +1 more source

Neuro-Ophthalmological Manifestations of Craniosynostosis: Current Perspectives

Eye and Brain, 2021
Michael Duan,1 Jesse Skoch,2 Brian S Pan,3 Veeral Shah4,5 1Baylor College of Medicine, School of Medicine, Houton, TX, USA; 2Cincinnati Children’s Hospital Medical Center, Division of Pediatric Neurosurgery, Cinicinnati, OH, USA; 3Cincinnati ...
Duan M, Skoch J, Pan BS, Shah V
doaj  

Higher fibrinogen concentrations for reduction of transfusion requirements during major paediatric surgery: A prospective randomised controlled trial† [PDF]

, 2017
Background Hypofibrinogenaemia is one of the main reasons for development of perioperative coagulopathy during major paediatric surgery. The aim of this study was to assess whether prophylactic maintenance of higher fibrinogen concentrations through ...
Haas, T., Hemmings, H. C., Hemmings, H. C., Henze, G., Jeszenszky, D., Min, K., Obwegeser, J., Restin, T., Schmugge, M., Seifert, B., Spielmann, N., Weiss, M.   +11 more
core  

Regulation of Calvarial Osteogenesis by Concomitant De-repression of GLI3 and Activation of IHH Targets [PDF]

, 2017
Loss-of-function mutations in GLI3 and IHH cause craniosynostois and reduced osteogeneiss, respectively. In this study, we show that ihh ligand, the receptor Ptch1 and Gli transcription factors are differentialyy expressed in embryonic mouse calvaria ...
Hasan, Md. Rakibul, Kesper, Dorthe A., Kobayashi, Yukiho, Mustonen, Tuija, Rice, David P., Takatalo, Maarit, Veistinen, Lotta K., Vortkamp, Andrea   +7 more
core   +1 more source

The Impact of Chlamydia Treatment During Pregnancy on Birth Defects in New York State

Birth Defects Research, Volume 118, Issue 1, January 2026.
ABSTRACT Background Chlamydia trachomatis (CT) diagnoses are highest among females of reproductive age. Yet, little is known about adverse infant outcomes associated with treatment for CT infections during pregnancy, including birth defects. Methods Using de‐identified matched data from the New York State (NYS) Sexually Transmitted Infection ...
Elizabeth M. Boos, Meredith Howley, Tomoko Udo, Alexa Freedman, Wilson Miranda, Charles Gonzalez, Rachel Hart‐Malloy   +6 more
wiley   +1 more source

Novel use of an ultrasonic bone-cutting device for endoscopic-assisted craniosynostosis surgery [PDF]

, 2013
Endoscopic-assisted craniosynostosis surgery is associated with less blood loss and shorter operative times as compared to open surgery. However, in infants who have low circulating blood volumes, the endoscopic approach is still associated with ...
AH, Dorafshar, ES, Ahn, GI, Jallo, KL, Chaichana   +3 more
core   +2 more sources

Fetal Tricuspid Annular Plane Systolic Excursion in the Surveillance of Intra‐Abdominal Umbilical Vein Varix

Journal of Ultrasound in Medicine, Volume 45, Issue 1, Page 51-58, January 2026.
Objective To describe the application of tricuspid annular plane systolic excursion (TAPSE) in monitoring cardiac function in cases of fetal intra‐abdominal umbilical vein varix (FIUVV). Methods The sample consisted of all cases of FIUVV diagnosed in a tertiary medical center between 2018 and 2023 that were assessed by sonographic fetal TAPSE.
Yossi Geron, Lior Drukker, Sharon Perlman, Ran Matot, Victoria Hermann, Natav Hendin, Ron Bardin, Yinon Gilboa, Ron Charach   +8 more
wiley   +1 more source

Whole Exome Sequencing in Patients With Developmental Delay/Intellectual Disability (DD/ID), Epilepsy and the First Turkish Patient Diagnosed With BCL11A‐Related Intellectual Disability

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
In this study, WES analysis was performed on patients with DD/ID, global developmental delay, epilepsy, and multiple congenital anomalies who could not be diagnosed through karyotype, CMA, and other examinations. Nineteen pathogenic/likely pathogenic (P/LP) variants were identified in 19 patients, and with the confirmation made in the parents and ...
Nejmiye Akkus, Abdullah Canbal, Seda Guneysu, Erkan Gokce, Pakize Duzgun, İbrahim Barıs   +5 more
wiley   +1 more source