Results 91 to 100 of about 5,186 (188)

Orbital causes of incomitant strabismus [PDF]

, 2015
Strabismus may result from abnormal innervation, structure, or function of the extraocular muscles. Abnormalities of the orbital bones or masses within the orbit may also cause strabismus due to indirect effects on the extraocular muscles.
Lueder, Gregg T
core   +3 more sources

Dosage‐dependent effects of FGFR2W290R mutation on craniofacial shape and cellular dynamics of the basicranial synchondroses

The Anatomical Record, Volume 308, Issue 7, Page 1944-1971, July 2025.
Abstract Craniosynostosis is a common yet complex birth defect, characterized by premature fusion of the cranial sutures that can be syndromic or nonsyndromic. With over 180 syndromic associations, reaching genetic diagnoses and understanding variations in underlying cellular mechanisms remains a challenge.
Heather A. Richbourg, Marta Vidal‐García, Katherine A. Brakora, Jay Devine, Risa Takenaka, Nathan M. Young, Siew‐Ging Gong, Amanda Neves, Benedikt Hallgrímsson, Ralph S. Marcucio   +9 more
wiley   +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

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  

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

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

GERMLINE GAIN-OF-FUNCTION MUTATIONS of ALK DISRUPT CENTRAL NERVOUS SYSTEM DEVELOPMENT [PDF]

, 2011
International audienceNeuroblastoma (NB) is a frequent embryonal tumour of sympathetic ganglia and adrenals with extremely variable outcome. Recently, somatic amplification and gain-of-function mutations of the anaplastic lymphoma receptor tyrosine ...
Amiel, Jeanne, Balu, Laurent, Boddaert, Nathalie, Brugière, Laurence, De Pontual, Loic, Delattre, Olivier, Etchevers, Heather C, Gordon, Chris, Janouex Larosey, Isabelle, Kettaneh, Dania, Lachassinne, Eric, Less, Melissa, Lyonnet, Stanislas, Mollet, Julie, Munnich, Arnold, Oufadem, Myriam, Petros, Andy, VEKEMANS, Michel, Wilson, LC   +18 more
core   +4 more sources

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

Cranial neural crest cell contribution to craniofacial formation, pathology, and future directions in tissue engineering [PDF]

, 2014
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/108634/1/bdrc21075 ...
Achilleos, Ashokan, Bassett, Boutros, Burstyn-Cohen, Cooper, Creuzet, Dixon, Douarin, Douarin, Dudas, Ezaldein, Graham, Green, Hou, Hsu, Huang, Ibrahimi, Ishii, Ito, Jabs, Jones, Kaartinen, Lalani, Loeys, Matera, Minoux, Mishina, Miura, Nagashima, Noden, Papangeli, Pelaez, Perez-Alcala, Pingault, Reardon, Rinon, Rogers, Roscioli, Sanger, Santagati, Shprintzen, Simoes-Costa, Southard-Smith, Takahashi, Theveneau, Theveneau, Trainor, Wang, Winograd, Xu, Young   +51 more
core   +1 more source