Works matching DE "MANDIBULOFACIAL dysostosis"

Results: 89

The embryological basis of craniofacial dysplasias.

Published in:

1977

By:

Poswillo, D. E.

Publication type:

journal article

Aplasia of the right lung and calcifying epithelioma in association with Goldenhar's syndrome.

Published in:

1976

By:

Kenawi, M. M.;
Dickson, J. A. S.;
Dickson, J A

Publication type:

journal article

Speech language pathology findings in a Treacher Collins syndrome patient.

Published in:

International Tinnitus Journal, 2016, v. 20, n. 1, p. 31, doi. 10.5935/0946-5448.20160006

By:

Massi, Giselle;
Roberta de França, Dayane;
Sampaio Santos, Rosane;
Ribas, Angela;
Duarte Fonseca, Vinícios;
Guarinello, Ana Cristina;
de Biagi Ziesemer, Nadine

Publication type:

Article

Síndrome de Treacher Collins: revisión de tema y presentación de caso.

Published in:

2014

By:

CARLOS LEYVA, JUAN;
MALLARINO RESTREPO, GONZALO

Publication type:

Case Study

Mild Form of Treacher Collins Syndrome Imitating Juvenile Otosclerosis.

Published in:

Case Reports in Pediatrics, 2012, p. 1, doi. 10.1155/2012/616797

By:

Zeleník, Karol;
Komínek, Pavel

Publication type:

Article

TREACHER COLLINS SYNDROME.

Published in:

Guident, 2018, v. 11, n. 1, p. 70

By:

Verma, Priya

Publication type:

Article

PROSTHODONTIC REHABILITATION OF A PATIENT WITH TREACHER COLLINS SYNDROME - AN ESTHETIC APPROACH.

Published in:

Guident, 2013, v. 6, n. 4, p. 16

By:

Prasad, Krishna;
Bardia, Anshul;
Prasad, Anupama

Publication type:

Article

Richieri‐Costa‐Pereira syndrome: Expanding its phenotypic and genotypic spectrum.

Published in:

Clinical Genetics, 2018, v. 93, n. 4, p. 800, doi. 10.1111/cge.13169

By:

Bertola, D. R.;
Hsia, G.;
Alvizi, L.;
Gardham, A.;
Wakeling, E. L.;
Yamamoto, G. L.;
Honjo, R. S.;
Oliveira, L. A. N.;
Di Francesco, R. C.;
Perez, B. A.;
Kim, C. A.;
Passos‐bueno, M. R.

Publication type:

Article

A review of craniofacial disorders caused by spliceosomal defects.

Published in:

Clinical Genetics, 2015, v. 88, n. 5, p. 405, doi. 10.1111/cge.12596

By:

Lehalle, D.;
Wieczorek, D.;
Zechi‐Ceide, R.M.;
Passos‐Bueno, M.R.;
Lyonnet, S.;
Amiel, J.;
Gordon, C.T.

Publication type:

Article

Array- CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly.

Published in:

Clinical Genetics, 2015, v. 87, n. 1, p. 80, doi. 10.1111/cge.12328

By:

Gandomi, S.K.;
Parra, M.;
Reeves, D.;
Yap, V.;
Gau, C.‐L.

Publication type:

Article

Human facial dysostoses.

Published in:

Clinical Genetics, 2013, v. 83, n. 6, p. 499, doi. 10.1111/cge.12123

By:

Wieczorek, D

Publication type:

Article

Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 1, p. 52, doi. 10.1038/ejhg.2013.98

By:

Vincent, Marie;
Collet, Corinne;
Verloes, Alain;
Lambert, Laetitia;
Herlin, Christian;
Blanchet, Catherine;
Sanchez, Elodie;
Drunat, Séverine;
Vigneron, Jacqueline;
Laplanche, Jean-Louis;
Puechberty, Jacques;
Sarda, Pierre;
Geneviève, David

Publication type:

Article

Application of the Vibrant Soundbridge middle-ear implant for aural atresia in patients with Treacher Collins syndrome.

Published in:

Journal of Laryngology & Otology, 2012, v. 126, n. 12, p. 1216, doi. 10.1017/S0022215112002344

By:

Lesinskas, E;
Stankeviciute, V;
Petrulionis, M

Publication type:

Article

Hearing rehabilitation with single-stage bilateral vibroplasty in a child with Franceschetti syndrome.

Published in:

2014

By:

Sargsyan, Sona;
Rahne, Torsten;
Kösling, Sabrina;
Eichler, Gerburg;
Plontke, Stefan

Publication type:

Report

Association between obstructive sleep apnea and health-related quality of life in individuals affected with Treacher Collins syndrome.

Published in:

European Archives of Oto-Rhino-Laryngology, 2013, v. 270, n. 11, p. 2879, doi. 10.1007/s00405-013-2409-0

By:

Geirdal, Amy;
Øverland, Britt;
Heimdal, Ketil;
Storhaug, Kari;
Åsten, Pamela;
Akre, Harriet

Publication type:

Article

Bilateral implant-retained auricular prosthesis in a patient with Treacher Collins syndrome: a case report.

Published in:

2014

By:

Karakoca Nemli, Seçil;
Gül, Esma Başak;
Bankoğlu Güngör, Merve

Publication type:

Case Study

Treacher Collins Syndrome: Case Report of a Patient with a Difficult Airway.

Published in:

2012

By:

KUKREJA, VIBHA;
KHURANA, SUDHA;
KOHLI, GURBAKSH;
SADHU, RAKESH

Publication type:

Case Study

Prediction of Mandibulofacial Asymmetry using Risk Factor Index and Model of Dentocraniofacial Morphological Pattern.

Published in:

Journal of International Dental & Medical Research, 2016, v. 9, n. 3, p. 195

By:

Purbiati, Maria;
Purwanegara, Miesje Karmiati;
Kusdhany, Linda;
Himawan, Laura Susanti

Publication type:

Article

Evolution of a child with Treacher Collins syndrome undergoing physiotherapeutic treatment.

Published in:

Fisioterapia em Movimento, 2015, v. 28, n. 3, p. 525, doi. 10.1590/0103-5150.028.003.AO11

By:

da S. Rodrigues, Bárbara Gabriela;
Oliveira Silva, Juliane Leonardo;
Gualberto Guimarães, Pryscilla;
Roberto Formiga, Cibelle Kayenne Martins;
Pavan Viana, Fabiana

Publication type:

Article

Does an ear deformity bring an adverse impact on quality of life of Treacher Collins syndrome individuals?

Published in:

Revista Ciência & Saúde Coletiva, 2018, v. 23, n. 12, p. 4311, doi. 10.1590/1413-812320182312.21142016

By:

Lodovichi, Fernando Felipe;
Pereira Oliveira, Jessica;
Denadai, Rafael;
Raposo-Amaral, Cesar Augusto;
Ghizoni, Enrico;
Raposo-Amaral, Cassio Eduardo

Publication type:

Article

A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report.

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 4, p. 1, doi. 10.1101/mcs.a006206

By:

Kohailan, Muhammad;
Al-Saei, Omayma;
Padmajeya, Sujitha;
Aamer, Waleed;
Elbashir, Najwa;
Al-Shabeeb Akil, Ammira;
Kamboh, Abdul-Rauf;
Fakhro, Khalid

Publication type:

Article

Bonebridge Implantation in Treacher-Collins Syndrome With Conductive Hearing Loss—Case Report.

Published in:

ENT: Ear, Nose & Throat Journal, 2025, v. 104, p. 434S, doi. 10.1177/01455613231154045

By:

Šikolová, Soňa;
Urík, Milan;
Hošnová, Dagmar;
Kruntorád, Vít;
Bartoš, Michal;
Petrová, Barbora

Publication type:

Article

Bilateral Parotid Gland Agenesis in Treacher Collins Syndrome: A Case Report.

Published in:

2019

By:

Choi, Yoon Seok;
Lee, Young Ha;
Kim, Yong-Dae

Publication type:

Case Study

The Treacher Collins Syndrome (TCOF1) Gene Product, Treacle, is Targeted to the Nucleolus by Signals in Its C-Terminus.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 12, p. 1947, doi. 10.1093/hmg/7.12.1947

By:

Winokur, Sara T.;
Shiang, Rita

Publication type:

Article

Hearing rehabilitation in Treacher Collins Syndrome with bone anchored hearing aid.

Published in:

Revista Paulista de Pediatria, 2015, v. 33, n. 4, p. 483, doi. 10.1016/j.rpped.2015.01.010

By:

Fernando Polanski, José;
Clara Plawiak, Anna;
Ribas, Angela

Publication type:

Article

Airway management in bilateral complete cleft lip and cleft palate with features of Treacher Collins syndrome for cheiloplasty.

Published in:

2014

By:

Khatavkar, Sonal S.;
Thatte, Widya S.;
Paul, Arnab

Publication type:

Case Study

Treacher Collins Syndrome.

Published in:

2013

By:

Kapoor, K.;
Batra, P.;
Saha, A.

Publication type:

Case Study

The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome.

Published in:

PLoS Genetics, 2016, v. 12, n. 7, p. 1, doi. 10.1371/journal.pgen.1006187

By:

Noack Watt, Kristin E.;
Achilleos, Annita;
Neben, Cynthia L.;
Merrill, Amy E.;
Trainor, Paul A.

Publication type:

Article

Treacher Collins Syndrome: A Case Report and Review of Literature.

Published in:

Journal of Pediatrics Review, 2019, v. 7, n. 1, p. 45, doi. 10.32598/jpr.7.1.45

By:

Khodadadi, Effat;
Dehghan, Zahra

Publication type:

Article

Treacher Collins syndrome – a case report.

Published in:

Case Reports in Perinatal Medicine, 2023, v. 12, n. 1, p. 1, doi. 10.1515/crpm-2020-0009

By:

Fraszczyk-Tousty, Magda;
Jankowska, Agata;
Tousty, Joanna;
Tousty, Piotr;
Łoniewska, Beata

Publication type:

Article

Treacher Collins syndrome: clinical implications for the paediatrician-a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature.

Published in:

European Journal of Pediatrics, 2012, v. 171, n. 11, p. 1611, doi. 10.1007/s00431-012-1776-7

By:

Schlump, Jan-Ulrich;
Stein, Anja;
Hehr, Ute;
Karen, Tanja;
Möller-Hartmann, Claudia;
Elcioglu, Nursel;
Bogdanova, Nadja;
Woike, Hartmut;
Lohmann, Dietmar;
Felderhoff-Mueser, Ursula;
Linz, Annette;
Wieczorek, Dagmar

Publication type:

Article

Braimah-Taiwo et al New Classification System and Treatment Algorithm of Mandibulo-Maxillary Synostosis Related to Noma. Field Experience From Noma Children Hospital Sokoto, Nigeria.

Published in:

Craniomaxillofacial Trauma & Reconstruction, 2024, v. 17, n. 4, p. 279, doi. 10.1177/19433875231214071

By:

Braimah, Ramat Oyebunmi;
Taiwo, A. O.;
Olasoji, H. O.;
Legbo, J. N.;
Amundson, M.;
Ibikunle, A. A.;
Suleiman, I. K.;
Bala, M.;
Ile-Ogedengbe, B. O.

Publication type:

Article

Mandibulofacial dysostosis (Treacher Collins syndrome): A case report and review of literature.

Published in:

2014

By:

RENJU, RAJ;
VARMA, BALAGOPAL R.;
KUMAR, SURESH J.;
KUMARAN, PARVATHY

Publication type:

Case Study

The Baha® Softband: Candidacy, evaluation and fitting.

Published in:

2014

By:

Christensen, Lisa

Publication type:

Product Review

Interaction between syndromic and non-syndromic factors affecting speech and language development in Treacher-Collins syndrome.

Published in:

2011

By:

Poorjavad, Marziyeh

Publication type:

Case Study

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-110

By:

Voigt, Claudia;
Mégarbané, André;
Neveling, Kornelia;
Czeschik, Johanna Christina;
Albrecht, Beate;
Callewaert, Bert;
Deimling, Florian von;
Hehr, Andreas;
Smeland, Marie Falkenberg;
König, Rainer;
Kuechler, Alma;
Marcelis, Carlo;
Puiu, Maria;
Reardon, Willie;
Riise Stensland, Hilde Monica Frostad;
Schweiger, Bernd;
Steehouwer, Marloes;
Teller, Christopher;
Martin, Marcel;
Rahmann, Sven

Publication type:

Article

Mutation screening of Chinese Treacher Collins syndrome patients identified novel <italic>TCOF1</italic> mutations.

Published in:

Molecular Genetics & Genomics, 2018, v. 293, n. 2, p. 569, doi. 10.1007/s00438-017-1384-3

By:

Chen, Ying;
Guo, Luo;
Li, Chen-long;
Shan, Jing;
Xu, Hai-song;
Li, Jie-ying;
Sun, Shan;
Hao, Shao-juan;
Jin, Lei;
Chai, Gang;
Zhang, Tian-yu

Publication type:

Article

A novel silent deletion, an insertion mutation and a nonsense mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome.

Published in:

Molecular Genetics & Genomics, 2014, v. 289, n. 6, p. 1237, doi. 10.1007/s00438-014-0883-8

By:

Wang, Yan;
Yin, Xiao-Juan;
Han, Tao;
Peng, Wei;
Wu, Hong-Lin;
Liu, Xin;
Feng, Zhi-Chun

Publication type:

Article

Treacher Collins syndrome.

Published in:

2007

By:

Dixon, J.;
Trainor, P.;
Dixon, M. J.;
Dixon, Jill;
Trainor, Paul;
Dixon, Michael J

Publication type:

journal article

Anaesthesia recommendations for Treacher-Collins syndrome.

Published in:

Anaesthesiologie & Intensivmedizin, 2022, v. 63, p. 1, doi. 10.19224/ai2022.S371

By:

Agrawal, Sanjay;
Vazquez, Marie-Paule

Publication type:

Article

Anaesthesia recommendations for Treacher-Collins syndrome.

Published in:

Anaesthesiologie & Intensivmedizin, 2022, v. 63, n. 11, p. S371, doi. 10.19224/ai2022.S371

By:

Costi, David;
Endlich, Yasmin

Publication type:

Article

Full Mouth Dental Restoration on a Treacher-Collins Patient Without Intubation.

Published in:

AANA Journal, 2023, v. 91, n. 1, p. 55

By:

Orr, Robert W.

Publication type:

Article

Zygomatic-orbital reconstruction in patient with Treacher Collins syndrome using bioceramic made of hydroxyapatite and β-tricalcium phosphate.

Published in:

Oral Surgery (1752-2471), 2016, v. 9, n. 2, p. 134, doi. 10.1111/ors.12179

By:

Corrêa, A.P.S.;
Shinohara, E.H.;
Gavina, R.S.;
Garcia‐Júnior, I.R.;
Timóteo, C.A.

Publication type:

Article

Issue Information - TOC.

Published in:: Oral Surgery (1752-2471), 2016, v. 9, n. 2, p. 81, doi. 10.1111/ors.12191
Publication type:: Article

The Genetics Journey: A Case Report of a Genetic Diagnosis Made 30 Years Later.

Published in:

Journal of Genetic Counseling, 2017, v. 26, n. 5, p. 894, doi. 10.1007/s10897-017-0119-2

By:

Williams, Linford;
Quinonez, Shane;
Uhlmann, Wendy

Publication type:

Article

Reaching new audiences: entering the digital age with infor mation and support.

Published in:

Infant, 2019, v. 15, n. 5, p. 170

By:

Bradley, Peter

Publication type:

Article

Reconstruction of large mandibulofacial defects with the composed double skin paddle fibula free flap: A review of 32 procedures.

Published in:

Laryngoscope, 2014, v. 124, n. 6, p. 1336, doi. 10.1002/lary.24452

By:

Leclère, Franck M.;
Bosc, Romain;
Temam, Stéphane;
Leymarie, Nicolas;
Mirghani, Haitham;
Sarfati, Benjamin;
Kolb, Frédéric

Publication type:

Article

The Importance of Being Prepared.

Published in:

2015

By:

Beetstra, Stephen

Publication type:

Editorial

A Newborn with Difficult Intubation Diagnosed with Treacher Collins Syndrome and Detection of a Novel Pathogenic Variant in TCOF1.

Published in:

Neonatology Today, 2023, v. 18, n. 10, p. 144

By:

Hua Wang;
Louzy, Enas

Publication type:

Article

Modified Mandibulotomy Technique to Reduce Postoperative Complications: 5-Year Results.

Published in:

Yonsei Medical Journal, 2013, v. 54, n. 5, p. 1248, doi. 10.3349/ymj.2013.54.5.1248

By:

Hye-Young Na;
Eun-Joo Choi;
Eun-Chang Choi;
Hyung Jun Kim;
In-Ho Cha;
Woong Nam

Publication type:

Article