Results 81 to 90 of about 2,247 (229)

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. [PDF]

, 2017
We studied three patients with severe skeletal dysplasia, T cell immunodeficiency, and developmental delay. Whole-exome sequencing revealed homozygous missense mutations affecting exostosin-like 3 (EXTL3), a glycosyltransferase involved in heparan ...
Bortolomai, I., Bosticardo, M., Brauer, P.M., Buoncompagni, A., Capuder, K., Di Rocco, M., Dobbs, K., Du, L., Felgentreff, K., Freedman, G., Giliani, S., Hagedorn, E.J., Hayashida, A., Hayashida, K., Imberti, L., Lee, H., Linhardt, R.J., Luche, N., Manis, J., Marcovecchio, G.E., Martini, A., Notarangelo, L.D., Ott de Bruin, L., Park, P.W., Poliani, P.L., Poulain, F.E., Puck, J.M., Rath, P., Rivolta, C., Rosenzweig, S.D., Royer-Bertrand, B., Slavotinek, A., Sun Kuehn, H., Superti-Furga, A., van Rooijen, E., Volpi, S., Yamazaki, Y., Zon, L., Zúñiga-Pflücker, J.C.   +38 more
core   +4 more sources

“Heal the sick”: Health status and caregiving during the 17th–18th century in Northern Italy (St. Biagio cemetery, Ravenna)

American Journal of Biological Anthropology, Volume 183, Issue 1, Page 125-140, January 2024.
Abstract Objective The study of health‐related care provision in archeology gives important indications on the culture and community organization of past populations. This study aims to assess the health status of the skeletal assemblage recovered from the burial site of St. Biagio (Ravenna, 17th–18th Centuries); next, we identified likely instances of
Federica De Luca, Alba Pasini, Filippo Scianò, Nicoletta Zedda, Chiara Guarnieri, Sabrina Masotti, Barbara Bramanti, Emanuela Gualdi‐Russo, Natascia Rinaldo   +8 more
wiley   +1 more source

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses

Frontiers in Genetics, 2020
BackgroundDefects in the development of the first and second pharyngeal arches and their derivatives result in abnormal formation of the craniofacial complex, consequently giving rise to facial dysostoses (FDs).
Ewelina Bukowska-Olech, Ewelina Bukowska-Olech, Anna Materna-Kiryluk, Anna Materna-Kiryluk, Joanna Walczak-Sztulpa, Delfina Popiel, Magdalena Badura-Stronka, Magdalena Badura-Stronka, Grzegorz Koczyk, Grzegorz Koczyk, Adam Dawidziuk, Aleksander Jamsheer, Aleksander Jamsheer   +12 more
doaj   +1 more source

[Metotopic craniosynostoses].

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 2001
Premature closure of the metopic suture leads to inhibited growth of the frontal bones, producing a keel-shaped forehead (trigonocephaly). Simple metopic synostosis is usually sporadic. Trigonocephalic patients account for 8-16% of the referrals to craniofacial centers, with a marked male predominance.
T R, Meling, B J, Due-Tønnessen, E, Helseth   +2 more
openaire   +1 more source

Outcomes of 40 Nonsyndromic Sagittal Craniosynostosis Patients as Adults : A Case-Control Study With 26 Years of Postoperative Follow-up [PDF]

, 2018
Background: While sagittal synostosis is the most common craniosynostosis, long-term follow-up of these patients is lacking.Objective: To evaluate the results of surgical management of those patients with sagittal synostosis who attain adulthood.Methods:
Pirttiniemi, Pertti, Salokorpi, Niina, Savolainen, Tuula, Serlo, Willy, Sinikumpu, Juha-Jaakko, Sándor, George K., Ylikontiola, Leena   +6 more
core   +1 more source

Idade e indicações de osteotomias para avanço frontofacial em pacientes com craniossinostoses sindrômicas Age and indications for osteotomy for frontofacial advancement in patients with syndromic craniosynostosis

Revista Brasileira de Cirurgia Plástica, 2012
INTRODUÇÃO: Desde o início da Cirurgia Craniofacial, muitos desafios foram ultrapassados. Problemas operatórios técnicos e de infraestrutura básica de atendimento especializado foram solucionados.
Nivaldo Alonso, Hamilton Matushita, Dov Charles Goldenberg, Endrigo Oliveira Bastos   +3 more
doaj   +1 more source

Ultra-early synostectomy and cranial remodeling orthoses in the management of craniosynostoses [PDF]

, 2021
Aaron Mohanty, Thomas Frank, Sharif Mohamed, Kristalynne Godwin, Gautam G. Malkani   +4 more
openalex   +1 more source

Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans [PDF]

, 2017
Specific germline activating point mutations in the gene encoding the tyrosine kinase receptor FGFR3 (fibroblast growth factor receptor 3) result in autosomal dominant human skeletal dysplasias.
Blanche, Martine, Dunois-Lardé, Claire, Gasc, Jean-Marie, Jorcano, Jose, Levrel, Olivier, Logié, Armelle, Radvanyi, François, Ribeiro, Agnès, Rosty, Christophe, Sastre-Garau, Xavier, Thiery, Jean Paul, Werner, Sabine   +11 more
core  

Augmentation of smad‐dependent BMP signaling in neural crest cells causes craniosynostosis in mice [PDF]

, 2013
Craniosynostosis describes conditions in which one or more sutures of the infant skull are prematurely fused, resulting in facial deformity and delayed brain development.
Fukuda, Tomokazu, Kamiya, Nobuhiro, Komatsu, Yoshihiro, Mishina, Yuji, Pan, Haichun, Ray, Manas K, Scott, Gregory J, Yamamura, Ken‐ichi, Yu, Paul B   +8 more
core   +1 more source

Anterior plagiocephaly- A report of a case and operative technique

Zdravniški Vestnik, 2017
Anterior plagiocephaly is a result of premature unilateral fusion of the coronary suture. It is the third most common form of non-syndromic craniosynostoses.
Peter Spazzapan, Roman Bošnjak, Tomaž Velnar, Antonino Cassisi   +3 more
doaj