Works matching DE "MANDIBULOFACIAL dysostosis"
Results: 88
Anesthesia in Treacher Collins Syndrome for bone anchored hearing aid (BAHA) surgery.
- Published in:
- Pediatric Anesthesia & Critical Care Journal (PACCJ), 2023, v. 11, n. 2, p. 90, doi. 10.14587/paccj.2023.11
- By:
- Publication type:
- Article
Hallermann-Streiff Syndrome--Confluence of Systems!
- Published in:
- 2016
- By:
- Publication type:
- Case Study
The embryological basis of craniofacial dysplasias.
- Published in:
- 1977
- By:
- Publication type:
- journal article
Aplasia of the right lung and calcifying epithelioma in association with Goldenhar's syndrome.
- Published in:
- 1976
- By:
- Publication type:
- journal article
Interaction between syndromic and non-syndromic factors affecting speech and language development in Treacher-Collins syndrome.
- Published in:
- 2011
- By:
- Publication type:
- Case Study
Mandibulofacial dysostosis.
- Published in:
- South African Journal of Radiology, 2012, v. 16, n. 1, p. 24, doi. 10.4102/sajr.v16i1.230
- By:
- Publication type:
- Article
The Importance of Being Prepared.
- Published in:
- 2015
- By:
- Publication type:
- Editorial
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:
- 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:
- Publication type:
- Article
Bilateral Parotid Gland Agenesis in Treacher Collins Syndrome: A Case Report.
- Published in:
- 2019
- By:
- 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:
- Publication type:
- Article
Treacher Collins Syndrome: Case Report of a Patient with a Difficult Airway.
- Published in:
- 2012
- By:
- Publication type:
- Case Study
Airway management in bilateral complete cleft lip and cleft palate with features of Treacher Collins syndrome for cheiloplasty.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
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:
- 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
Treacher Collins syndrome.
- Published in:
- 2007
- By:
- Publication type:
- journal article
The characteristics of craniofacial and cervicovertebral morphology in different genetic syndromes - a literature review and three case reports.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Full Mouth Dental Restoration on a Treacher-Collins Patient Without Intubation.
- Published in:
- AANA Journal, 2023, v. 91, n. 1, p. 55
- By:
- Publication type:
- Article
Contouring of zygomatic soft tissue using bilateral free groin flaps in a Treacher Collins syndrome patient.
- Published in:
- Archives of Craniofacial Surgery, 2018, v. 19, n. 2, p. 131, doi. 10.7181/acfs.2018.01739
- By:
- Publication type:
- Article
Treacher Collins Syndrome.
- Published in:
- 2013
- By:
- Publication type:
- Case Study
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:
- 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:
- 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:
- Publication type:
- Article
Human facial dysostoses.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 6, p. 499, doi. 10.1111/cge.12123
- By:
- 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:
- 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:
- Publication type:
- Article
Awake bronchoscopy-guided nasotracheal intubation in a child with Treacher Collins syndrome and obstructive sleep apnoea.
- Published in:
- Airway (2665-9425), 2022, v. 5, n. 3, p. 126, doi. 10.4103/arwy.arwy_29_22
- By:
- 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:
- Publication type:
- Article
Anaesthesia recommendations for Treacher-Collins syndrome.
- Published in:
- Anaesthesiologie & Intensivmedizin, 2022, v. 63, p. 1, doi. 10.19224/ai2022.S371
- By:
- 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:
- Publication type:
- Article
Prenatal Diagnosis of Treacher-Collins Syndrome Using Three-Dimensional Ultrasonography and Differential Diagnosis with Other Acrofacial Dysostosis Syndromes.
- Published in:
- Case Reports in Obstetrics & Gynecology, 2013, p. 1, doi. 10.1155/2013/203976
- By:
- 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:
- Publication type:
- Article
Associations between speech features and phenotypic severity in Treacher Collins syndrome.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-47
- By:
- Publication type:
- Article
Feeding and Swallowing Issues in Infants With Craniofacial Anomalies.
- Published in:
- Perspectives of the ASHA Special Interest Groups, 2016, v. 1, n. 5, p. 13, doi. 10.1044/persp1.SIG5.13
- By:
- 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:
- Publication type:
- Article
Viable Ednra mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation.
- Published in:
- Mammalian Genome, 2016, v. 27, n. 11/12, p. 587, doi. 10.1007/s00335-016-9664-5
- By:
- Publication type:
- Article
Multidisciplinary Treatment Approach in Treacher Collins Syndrome.
- Published in:
- Journal of Dentistry for Children, 2012, v. 79, n. 1, p. 15
- By:
- Publication type:
- Article
Mild Form of Treacher Collins Syndrome Imitating Juvenile Otosclerosis.
- Published in:
- Case Reports in Pediatrics, 2012, p. 1, doi. 10.1155/2012/616797
- By:
- Publication type:
- Article
Treacher Collins Syndrome Associated with Disproportionate Nervous System, Cardiovascular, Otologic Complications Among 1,114 Patients.
- Published in:
- Cleft Palate Craniofacial Journal, 2024, v. 61, n. 12, p. 1951, doi. 10.1177/10556656231187302
- By:
- Publication type:
- Article
Mandibular Dysmorphology and Clinical Presentation in Treacher Collins Syndrome.
- Published in:
- Cleft Palate Craniofacial Journal, 2024, v. 61, n. 11, p. 1822, doi. 10.1177/10556656231184967
- By:
- Publication type:
- Article
Is There a Role for Comfort Care in Neonates With Severe Craniofacial Anomalies? Case Report and Review of Quality-of-Life Literature.
- Published in:
- Cleft Palate Craniofacial Journal, 2024, v. 61, n. 4, p. 717, doi. 10.1177/10556656221138884
- By:
- Publication type:
- Article
A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type.
- Published in:
- Cleft Palate Craniofacial Journal, 2024, v. 61, n. 4, p. 688, doi. 10.1177/10556656221136177
- By:
- Publication type:
- Article
Bite Force, Masticatory Performance, and Nutritional Status of Adult Individuals With Treacher Collins Syndrome.
- Published in:
- Cleft Palate Craniofacial Journal, 2024, v. 61, n. 4, p. 566, doi. 10.1177/10556656221132376
- By:
- Publication type:
- Article
A Novel Missense Variant in the TCOF1 Gene in one Chinese Case With Treacher Collins Syndrome.
- Published in:
- Cleft Palate Craniofacial Journal, 2024, v. 61, n. 2, p. 192, doi. 10.1177/10556656221125387
- By:
- Publication type:
- Article
Tessier's Cleft Number 6 Revisited: A Series of 26 new Cases and Literature Review of 44.
- Published in:
- Cleft Palate Craniofacial Journal, 2023, v. 60, n. 8, p. 938, doi. 10.1177/10556656221086459
- By:
- Publication type:
- Article
Total Aplasia of Paranasal Sinus Associated With a Syndromic Condition.
- Published in:
- Cleft Palate Craniofacial Journal, 2023, v. 60, n. 5, p. 616, doi. 10.1177/10556656221074865
- By:
- Publication type:
- Article
Craniofacial Orthodontic Experience in CODA-Accredited Orthodontic Residency Programs.
- Published in:
- Cleft Palate Craniofacial Journal, 2023, v. 60, n. 3, p. 313, doi. 10.1177/10556656211059363
- By:
- Publication type:
- Article
Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India.
- Published in:
- Cleft Palate Craniofacial Journal, 2022, v. 59, n. 11, p. 1346, doi. 10.1177/10556656211050006
- By:
- Publication type:
- Article
Description of Total Population Hospital Admissions for Treacher Collins Syndrome in Australia.
- Published in:
- Cleft Palate Craniofacial Journal, 2022, v. 59, n. 9, p. 1167, doi. 10.1177/10556656211036618
- By:
- Publication type:
- Article
Phenotype Analysis and Genetic Study of Chinese Patients With Treacher Collins Syndrome.
- Published in:
- Cleft Palate Craniofacial Journal, 2022, v. 59, n. 8, p. 1038, doi. 10.1177/10556656211037509
- By:
- Publication type:
- Article