Results 101 to 110 of about 2,768 (208)

Gene-environment interactions modulate the phenotypic severity in mouse models of congenital craniofacial syndromes

Birth defects are the leading cause of infant mortality, and most inborn errors of development are multifactorial in origin, resulting from complex gene-environment interactions.
McKinney, Mary C, Fiorino, Roberta, Dixon, Michael J, Truong, Thoa Hk, Dixon, Jill; id_orcid, Fitriasari, Sharien, Trainor, Paul A   +6 more
core   +1 more source

Anaesthetic management of a patient with Crouzon syndrome

, 2013
Crouzon syndrome is a rare hereditary disorder, characterised by marked craniofacial dysostosis from birth or early childhood. Typically, patients present in early childhood for craniofacial reconstruction surgery.
Gupta, SK, Singh, A, Bajwa, SJ, Kaur, J, Parmar, SS   +4 more
core  

Craniofacial Dysostosis (Crouzon's Syndrome) [PDF]

Proceedings of the Royal Society of Medicine, 1937
openaire   +2 more sources

Disorders of Ocular Motility in Craniofacial Dysostosis [PDF]

Journal of the Royal Society of Medicine, 1979
B, Greaves, J, Walker, K, Wybar
openaire   +2 more sources

Signalling Pathways and Mechanical Forces Interact in Craniofacial Development and Homeostasis. [PDF]

Int Dent J
Chen Y, Feng X, Wu H, Duan Y, Han Y, Yu M.   +5 more
europepmc   +1 more source

Cleidocranial dysplasia in a Moroccan patient: a case report. [PDF]

Pan Afr Med J
Mansy H, Oumensour K, Ikiss JA, Elarabi S.   +3 more
europepmc   +1 more source

Prenatal Ultrasound and Genetic Diagnosis of <i>EFTUD2</i> Haploinsufficiency in Two Fetuses: A Case Series. [PDF]

Appl Clin Genet
Kucińska A, Dudarewicz L, Nowakowska BA, Geremek M, Wysocka U, Przesór Ł, Barańska D, Grzelak P, Gach A.   +8 more
europepmc   +1 more source

RNA Polymerase I Dysfunction Underlying Craniofacial Syndromes: Integrated Genetic Analysis Reveals Parallels to 22q11.2 Deletion Syndrome. [PDF]

Genes (Basel)
Silvey S, Lovell S, Butler MG.
europepmc   +1 more source

Unveiling the Phenotypic Spectrum of Miller Syndrome: A Systematic Review. [PDF]

J Craniofac Surg
van Roey VL, Ombashi S, Kaymaz I, van Dooren MF, Goverde A, Wolvius EB, Mathijssen IMJ, Versnel SL.   +7 more
europepmc   +1 more source

Malformações laríngeas na síndrome de Richieri-Costa-Pereira com obstrução de via aérea Laryngeal malformations in the Richieri Costa and Pereira syndrome with airway obstruction

Brazilian Journal of Otorhinolaryngology, 2011
Patrícia Barcelos Ogando, Fábio Pires, Rita Carolina Pozzer Krummenauer, Marcus Vinícius Martins Collares, José Faibes Lubianca Neto   +4 more
doaj   +1 more source