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53 results

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Page 1
A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity.
Ulhaq ZS, Nurputra DK, Soraya GV, Kurniawati S, Istifiani LA, Pamungkas SA, Tse WKF. Ulhaq ZS, et al. Clin Genet. 2023 Feb;103(2):146-155. doi: 10.1111/cge.14243. Epub 2022 Oct 17. Clin Genet. 2023. PMID: 36203321 Review.
Treacher Collins syndrome (TCS, OMIM: 154500) is a rare congenital craniofacial disorder that is caused by variants in the genes TCOF1, POLR1D, POLR1C, and POLR1B. ...While the hot spot for POLR1D, POLR1C, and POLR1B were identified in exons 3, 8, and
Treacher Collins syndrome (TCS, OMIM: 154500) is a rare congenital craniofacial disorder that is caused by variants in
Craniofacial syndromes.
Buchanan EP, Xue AS, Hollier LH Jr. Buchanan EP, et al. Plast Reconstr Surg. 2014 Jul;134(1):128e-153e. doi: 10.1097/PRS.0000000000000308. Plast Reconstr Surg. 2014. PMID: 25028828 Review.
Understand the most serious complications associated with each syndrome. 3. Formulate the best age-appropriate surgical plans. SUMMARY: Craniofacial syndromes fall into two major categories-those associated with craniosynostosis, and those associated with clefts. .. …
Understand the most serious complications associated with each syndrome. 3. Formulate the best age-appropriate surgical plans. …
Treacher Collins syndrome.
Dixon MJ. Dixon MJ. Hum Mol Genet. 1996;5 Spec No:1391-6. doi: 10.1093/hmg/5.supplement_1.1391. Hum Mol Genet. 1996. PMID: 8875242 Review.
Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. In the absence of a candidate gene, a positional cloning approach has been used to isolate the mut
Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development, the features of which include
Prenatal diagnosis of Treacher Collins syndrome: A case report and literature review.
Wang Y, Wang Y, Yao M, Chen L, Wu S, Liu Y. Wang Y, et al. Int J Gynaecol Obstet. 2023 Dec;163(3):778-781. doi: 10.1002/ijgo.14881. Epub 2023 May 25. Int J Gynaecol Obstet. 2023. PMID: 37231986 Review.
Treacher Collins syndrome (TCS) should be suspected if the triad of micrognathia, glossoptosis, and posterior cleft palate, and deformed external ears are observed during prenatal ultrasonography, excepting Pierre Robin sequence. ...
Treacher Collins syndrome (TCS) should be suspected if the triad of micrognathia, glossoptosis, and posterior cleft pal
Treacher Collins Mandibular Distraction.
Peck CJ, Lopez J, Smetona JT, Steinbacher DM. Peck CJ, et al. Clin Plast Surg. 2021 Jul;48(3):431-444. doi: 10.1016/j.cps.2021.02.005. Clin Plast Surg. 2021. PMID: 34051896 Review.
Treacher Collins syndrome (TCS) is a genetic disorder that presents with a variety of craniofacial deformities. ...
Treacher Collins syndrome (TCS) is a genetic disorder that presents with a variety of craniofacial deformities. ...
Counterclockwise Craniofacial Distraction Osteogenesis.
Hopper RA, Wang HD, Mercan E, Kapadia H. Hopper RA, et al. Clin Plast Surg. 2021 Jul;48(3):445-454. doi: 10.1016/j.cps.2021.02.006. Epub 2021 May 5. Clin Plast Surg. 2021. PMID: 34051897 Review.
Anatomic studies have identified that patients with Treacher Collins syndrome and some cases of bilateral craniofacial microsomia are characterized by multilevel airway obstruction as a result of hypoplasia and clockwise rotation of the maxillomandibular comp …
Anatomic studies have identified that patients with Treacher Collins syndrome and some cases of bilateral craniofacial …
Pediatric Temporomandibular Joint Pathology.
Resnick CM. Resnick CM. Oral Maxillofac Surg Clin North Am. 2024 Aug;36(3):303-315. doi: 10.1016/j.coms.2024.01.008. Epub 2024 Mar 10. Oral Maxillofac Surg Clin North Am. 2024. PMID: 38462395 Review.
Genomic imbalances in craniofacial microsomia.
Spineli-Silva S, Sgardioli IC, Dos Santos AP, Bergamini LL, Monlleó IL, Fontes MIB, Félix TM, Ribeiro EM, Xavier AC, Lustosa-Mendes E, Gil-da-Silva-Lopes VL, Vieira TP. Spineli-Silva S, et al. Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):970-985. doi: 10.1002/ajmg.c.31857. Epub 2020 Nov 20. Am J Med Genet C Semin Med Genet. 2020. PMID: 33215817 Review.
MLPA revealed pathogenic CNVs at the 22q11 region in 3/54 (5.6%) individuals. CMA revealed pathogenic CNVs in 4/17 (23.5%) individuals, including the three CNVs at the 22q11 region also detected by MLPA, and CNVs classified as variants of unknown significance (VOUS) in 4/1 …
MLPA revealed pathogenic CNVs at the 22q11 region in 3/54 (5.6%) individuals. CMA revealed pathogenic CNVs in 4/17 (23.5%) individual …
Re-focusing on Agnathia-Otocephaly complex.
Dubucs C, Chassaing N, Sergi C, Aubert-Mucca M, Attié-Bitach T, Lacombe D, Thauvin-Robinet C, Arpin S, Perez MJ, Cabrol C, Chen CP, Aziza J, Colin E, Martinovic J, Calvas P, Plaisancié J. Dubucs C, et al. Clin Oral Investig. 2021 Mar;25(3):1353-1362. doi: 10.1007/s00784-020-03443-w. Epub 2020 Jul 9. Clin Oral Investig. 2021. PMID: 32643087 Review.
Miller Fischer syndrome after COVID-19 infection and vaccine: a systematic review.
Neophytou P, Artemiadis A, Hadjigeorgiou GM, Zis P. Neophytou P, et al. Acta Neurol Belg. 2023 Oct;123(5):1693-1701. doi: 10.1007/s13760-023-02336-5. Epub 2023 Jul 19. Acta Neurol Belg. 2023. PMID: 37468803 Free PMC article.
BACKGROUND: COVID-19 (CoranaVirus disease 2019) is an ongoing infectious disease caused by the RNA SARS-CoV-2 virus (Severe Acute Respiratory Syndrome CoronaVirus-2). The virus mainly causes respiratory symptoms, but neurological symptoms have also been reported to be part …
BACKGROUND: COVID-19 (CoranaVirus disease 2019) is an ongoing infectious disease caused by the RNA SARS-CoV-2 virus (Severe Acute Respirator …
53 results