Results 121 to 130 of about 5,413 (278)

Identification of Novel Craniofacial Regulatory Domains Located far Upstream of SOX9 and Disrupted in Pierre Robin Sequence. [PDF]

, 2014
Mutations in the coding sequence of SOX9 cause campomelic dysplasia (CD), a disorder of skeletal development associated with 46,XY disorders of sex development (DSDs). Translocations, deletions, and duplications within a ∼2 Mb region upstream of SOX9 can
Abadie, V., Amiel, J., Ansari, M., Attanasio, C., Benko, S., Bhatia, S., FitzPatrick, D., Goldenberg, A., Gordon, C.T., Kleinjan, D.A., Lyonnet, S., Munnich, A., Pennacchio, L.A., Tan, T.Y., Temple, I.K., van Heyningen, V., Visel, A.   +16 more
core   +3 more sources

Median cleft of lower lip with ankyloglossia: A case report

Oral and Maxillofacial Surgery Cases, 2019
Median cleft of the lower lip & mandible (Tessier no. 30 facial cleft) is an uncommon condition. This cleft varies in severity, in mildest form it may present as submucosal notching of lower lip & in most severe form it may involve lower lip, tongue ...
Jaideep Singh Chauhan, Sarwpriya Sharma
doaj   +1 more source

WHO Technical Consultation on Postpartum and Postnatal Care [PDF]

, 2011
Публикација од техничкиот серијал на СЗО за ревизија на Клиничките упатства на светско ниво во областа на перинатологијата. Главен консултнт од областа на неонатологија и автор на тој дел е проф д-р Зисовска, и нејзината систематички преглед е печатен ...
Zisovska, Elizabeta
core  

Ellis-Van Creveld Syndrome. Case report and literature review [PDF]

, 2014
Ellis-van Creveld syndrome is a genetic disorder that was first described by Richard Ellis and Simon van Creveld in 1940. The four principal characteristics are chondrodysplasia, polydactyly, ectodermal dysplasia and congenital heart defects.
Alves Pereira, Daniela, Berini Aytés, Leonardo, Gay Escoda, Cosme   +2 more
core  

Labial ankyloglossia: A rare case report

Contemporary Clinical Dentistry, 2016
Tongue-tie or ankyloglossia is the congenital short thick lingual frenulum resulting in reduced mobility of the tongue. It limits the possibilities of the extension such as the protrusion and elevation of the tip of the tongue due to either the short of ...
Rakesh Namdeo Bahadure, Eesha Jain, Parul Singh, Rameshkumar Pandey, Rakeshkumar Chuk   +4 more
doaj   +1 more source

Improving Breastfeeding Supports in Primary Care Settings [PDF]

, 2014
Background: Although 84% of Vermont mothers initiate breastfeeding, only 26% exclusively breastfeed at 6 months of age. Surveyed physicians agree with the benefits of breastfeeding but claim insufficient knowledge and lack confidence in evaluating and ...
Koutras, Anya S., M.D., F.A.A.F.P., I.B.C.L.C
core   +1 more source

Lingual Frenectomy as Treatment of Ankyloglossia in Children: A case report

Indonesian Journal of Dental Medicine, 2019
Background: Ankyloglossia or tongue tie is a congenital condition that results when the inferior lingual fraenulum is too short and attached to the tip of the tongue, limiting its normal movements.
Tania Saskianti, Zita Aprillia, Mega Moeharyono Puteri, Alivy Aulia Az Zahra, Udijanto Tedjosasongko   +4 more
doaj   +1 more source

Clinical and Genetic Examination of Limb Developmental Defects [PDF]

, 2010
8
Tészás Alexandra
core  

Ankyloglossia in Children, a Cause of Obstructive Sleep Apnoea: Case Report of Paediatric Ankyloglossia and Sleep Apnoea: DISE Resolves the Mystery

Children
Tongue mobility is an obstructive sleep apnoea (OSA) marker and myofunctional therapy (MFT) target. For this reason, all paediatric patients with sleep-disordered breathing should require a combined functional assessment from an ear, nose, and throat ...
Johanna Ximena Valderrama-Penagos, Laura Rodríguez Alcalá, Guillermo Plaza, P. Baptista, M. G. García Iriarte, E. Correa, Carlos O’Connor-Reina   +6 more
semanticscholar   +1 more source

Molecular Genetics and Epigenetics of Ankyloglossia [PDF]

, 2018
Lili Nur Indah Sari, Elza Ibrahim Auerkari   +1 more
openalex   +1 more source