Results 91 to 100 of about 5,244 (207)

Computed tomography assessment of Apert syndrome Avaliação da síndrome de Apert por meio da tomografia computadorizada

Brazilian Oral Research, 2004
Apert syndrome, or acrocephalosyndactyly type I, is a craniofacial dysostosis, an autosomal dominant condition characterized by severe developmental disturbances of the craniofacial region including bilateral coronal synostosis associated with midface ...
Marco Antônio Portela Albuquerque, Marcelo Gusmão Paraíso Cavalcanti   +1 more
doaj   +1 more source

Culture: Not just Burns – what about the poet Robert Fergusson? [PDF]

, 2016
No abstract ...
Bismarck F Hernández-Álvarez, Carlos J Quant-Durán, Claudia García-Morales, Daniela Tapia-Trejo, Guillermo Porras-Cortés, Gustavo Reyes-Terán, Margarita Matías-Florentino, Santiago Avila-Ríos, Sumaya E Moreira-López   +8 more
core   +2 more sources

Gingival enlargement following levetiracetam treatment: A clinical case analysis

Epilepsia Open, Volume 10, Issue 5, Page 1695-1698, October 2025.
Abstract This report describes a 21‐year‐old female with a history of epilepsy, diagnosed at age 17, who developed gingival enlargement after being treated with levetiracetam. Her dosage was titrated to 750 mg twice daily, achieving satisfactory seizure control.
Awadh M. Alahmari, Ali M. Alkhathaami
wiley   +1 more source

Florid cemento osseous dysplasia and dentygerous cyst in a patient with apert syndrome: A case report

Selcuk Dental Journal, 2019
Apert syndrome is a rare congenital malformation characterized by craniocinocytosis, craniofacial anomalies and symmetric syndactyly of the feet and hands.
Nazlıcan Paslı, Fatma Nihan Aksakallı, Ender İdman, M. Oğuz Borahan, Emrah Canbazoğlu, Hasan Garip, Şebnem Erçalık Yalçınkaya   +6 more
doaj  

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  

Rapid detection of de novo P253R mutation in FGFR2 using uncultured amniocytes in a pregnancy affected by polyhydramnios, Blake's pouch cyst, and Apert syndrome

Taiwanese Journal of Obstetrics & Gynecology, 2013
Objective: To present prenatal ultrasound and molecular genetic diagnosis of Apert syndrome. Case Report: A 30-year-old, gravida 3, para 2 woman was referred for genetic counseling at 32 weeks of gestation because of polyhydramnios and craniofacial and ...
Chih-Ping Chen, Yi-Ning Su, Tung-Yao Chang, Schu-Rern Chern, Chen-Yu Chen, Jun-Wei Su, Wayseen Wang   +6 more
doaj   +1 more source

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability [PDF]

, 2015
Human ZIC1 (zinc finger protein of cerebellum 1), one of five homologs of the Drosophila pair-rule gene odd-paired, encodes a transcription factor previously implicated in vertebrate brain development.
Forecki, J. (Jennifer), Goos, J.A.C. (Jacqueline), Hoogeboom, A.J.M. (Jeannette), Leguin, M. (Maarten), Mathijssen, I.M.J. (Irene), McGowan, S.J. (Simon J.), Merzdorf, C.S. (Christa S.), Miller, K.A. (Kerry A.), Ouweland, A.M.W. (Ans) van den, Pauws, E. (Erwin), Richardson, I.C.A. (Ivy C.A.), Spek, P.J. (Peter) van der, Swagemakers, S.M.A. (Sigrid), Twigg, S.R.F. (Stephen), Van antwerp, D. (Daniel), Wall, S.A. (Steven), Westbury, I. (Isabelle), Wilkie, A.O.M. (Andrew)   +17 more
core   +1 more source

Apert syndrome: factors involved in the cognitive development Síndrome de Apert: fatores relacionados ao desenvolvimento cognitivo destes pacientes

Arquivos de Neuro-Psiquiatria, 2005
Apert syndrome is characterized by craniosynostosis, symmetric syndactyly and other systemic malformations, with mental retardation usually present.
Adriano Yacubian-Fernandes, Aristides Palhares, Alcir Giglio, Roberto C. Gabarra, Silvio Zanini, Luis Portela, Mateus Violin Silva, Gimol Bezaquen Perosa, Dagma Abramides, José Píndaro P. Plese   +9 more
doaj   +1 more source

Role of FGFs in the control of programmed cell death during limb development [PDF]

, 2001
10 páginas, 8 figuras.We have investigated the role of FGFs in the control of programmed cell death during limb development by analyzing the effects of increasing and blocking FGF signaling in the avian limb bud.
Montero, Juan Antonio, Gañán, Yolanda, Macías, D., Rodríguez-León, Joaquín, Sanz-Ezquerro, Juan José, Merino, Ramón, Chimal-Monroy, Jesús, Nieto, M. Ángela, Hurle, Juan M.   +8 more
core   +1 more source

FGF2 promotes Msx2 stimulated PC‐1 expression via Frs2/MAPK signaling [PDF]

, 2010
PC‐1 is an enzymatic generator of pyrophosphate and a critical regulator of tissue mineralization. We previously showed that fibroblast growth factor‐2 (FGF2) specifically induces PC‐1 expression in calvarial pre‐osteoblasts and that this occurs via a ...
Hatch, Nan E., Hudson, Mark, Kim, Sungsu, Li, Yan, Liu, Jin   +4 more
core   +1 more source