Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1963 1
1969 1
1974 2
1975 1
1980 1
1987 1
1989 1
1991 1
1992 1
1993 2
1994 1
1995 2
1996 2
1998 3
1999 1
2002 1
2004 1
2005 2
2006 2
2007 3
2008 1
2009 2
2010 2
2011 1
2012 5
2013 3
2014 5
2015 5
2016 5
2017 3
2018 7
2019 5
2020 4
2021 3
2022 3
2023 1

Text availability

Article attribute

Article type

Publication date

Search Results

75 results

Results by year

Filters applied: . Clear all
Page 1
Treacher Collins Syndrome: Genetics, Clinical Features and Management.
Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R. Marszałek-Kruk BA, et al. Genes (Basel). 2021 Sep 9;12(9):1392. doi: 10.3390/genes12091392. Genes (Basel). 2021. PMID: 34573374 Free PMC article. Review.
Treacher Collins syndrome (TCS) is associated with abnormal differentiation of the first and second pharyngeal arches, occurring during fetal development. Features of TCS include microtia with conductive hearing loss, slanting palpebral fissures with possibly …
Treacher Collins syndrome (TCS) is associated with abnormal differentiation of the first and second pharyngeal arches, …
Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations.
Plomp RG, van Lieshout MJS, Joosten KFM, Wolvius EB, van der Schroeff MP, Versnel SL, Poublon RML, Mathijssen IMJ. Plomp RG, et al. Plast Reconstr Surg. 2016 Jan;137(1):191-204. doi: 10.1097/PRS.0000000000001896. Plast Reconstr Surg. 2016. PMID: 26710023 Review.
BACKGROUND: No reviews or guidelines are available on evidence-based treatment for the multidisciplinary approach in Treacher Collins syndrome. The authors' aim is to provide an evidence-based review of multidisciplinary treatment of Treacher Collin …
BACKGROUND: No reviews or guidelines are available on evidence-based treatment for the multidisciplinary approach in Treacher Coll …
Etiology and Pathogenesis of Hemifacial Microsomia.
Chen Q, Zhao Y, Shen G, Dai J. Chen Q, et al. J Dent Res. 2018 Nov;97(12):1297-1305. doi: 10.1177/0022034518795609. Epub 2018 Sep 11. J Dent Res. 2018. PMID: 30205013 Review.
., the recently reported mutations in OTX2, PLCD3, and MYT1) may lead to HFM through 1 of these pathogenic processes. Whole genome sequencing to identify additional pathogenic variants, biological functional studies to understand the exact molecular mechanisms, and additio …
., the recently reported mutations in OTX2, PLCD3, and MYT1) may lead to HFM through 1 of these pathogenic processes. Whole genome se …
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.
LEARNING OBJECTIVES: After studying this article, the participant should be able to: 1. Recognize the clinical presentations of commonly seen craniofacial syndromes. 2. ...Common syndromes associated with clefts include Pierre Robin, Treacher Collins, Nager, …
LEARNING OBJECTIVES: After studying this article, the participant should be able to: 1. Recognize the clinical presentations of commo …
The Role of TCOF1 Gene in Health and Disease: Beyond Treacher Collins Syndrome.
Grzanka M, Piekiełko-Witkowska A. Grzanka M, et al. Int J Mol Sci. 2021 Mar 1;22(5):2482. doi: 10.3390/ijms22052482. Int J Mol Sci. 2021. PMID: 33804586 Free PMC article. Review.
Among all nucleolar proteins, treacle encoded by TCOF1 gene emerges as one of the most crucial regulators of cellular processes. TCOF1 was initially discovered as a gene involved in the Treacher Collins syndrome, a rare genetic disorder characterized by sever …
Among all nucleolar proteins, treacle encoded by TCOF1 gene emerges as one of the most crucial regulators of cellular processes. TCOF1 was i …
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.
This severe anomaly of the first branchial arch is most often lethal. The estimated incidence is less than 1 in 70.000 births, with etiologies linked to both genetic and teratogenic factors. ...RESULTS: In our 10 patients' cohort, no point mutation in the three tested gene …
This severe anomaly of the first branchial arch is most often lethal. The estimated incidence is less than 1 in 70.000 births, with e …
[Pathogenic genes and clinical therapeutic strategies for Treacher Collins syndrome].
Yin B, Shi B, Jia ZL. Yin B, et al. Hua Xi Kou Qiang Yi Xue Za Zhi. 2019 Jun 1;37(3):330-335. doi: 10.7518/hxkq.2019.03.020. Hua Xi Kou Qiang Yi Xue Za Zhi. 2019. PMID: 31218872 Free PMC article. Review. Chinese.
Treacher Collins syndrome is a congenital craniofacial malformation with autosomal dominant inheritance as the main genetic pattern. ...This paper provides a review of research of three major patho-genic genes, pathogenesis, phenotypic research, prevention, a …
Treacher Collins syndrome is a congenital craniofacial malformation with autosomal dominant inheritance as the main gen …
Distraction osteogenesis.
Sidman J, Tatum SA. Sidman J, et al. Facial Plast Surg Clin North Am. 2014 Feb;22(1):139-46. doi: 10.1016/j.fsc.2013.09.003. Facial Plast Surg Clin North Am. 2014. PMID: 24290998 Review.
[Treacher Collins syndrome: case report and literature review].
Hao J, Liu Z, Kong W, Wang J. Hao J, et al. Lin Chuang Er Bi Yan Hou Ke Za Zhi. 2006 Jul;20(13):582-4. Lin Chuang Er Bi Yan Hou Ke Za Zhi. 2006. PMID: 16981466 Review. Chinese.
OBJECTIVE: To study the genetic background, clinical features, diagnosis, management, and prenatal testing and counseling of Treacher Collins syndrome (TCS). METHOD: The clinical data of a patient and his mother suffering from TCS was reported and the relevan …
OBJECTIVE: To study the genetic background, clinical features, diagnosis, management, and prenatal testing and counseling of Treacher …
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.
Pathogenic alterations were found at the 2p12, 5p15, 13q13, and 22q11 regions. VOUS were found at 3q29, 5q22.2, 5q22.1, and 9p22 regions. All individuals with pathogenic alterations presented additional major features, including congenital heart disease (CHD). ...
Pathogenic alterations were found at the 2p12, 5p15, 13q13, and 22q11 regions. VOUS were found at 3q29, 5q22.2, 5q22.1, and 9p22 regi …
75 results