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Items: 1 to 20 of 3502

1.
Case report: A third variant in the 5′ UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome
Francisca Diaz-Gonzalez, Javier M. Sacedo-Gutiérrez, Stephen R. F. Twigg, Eduardo Calpena, Fernando E. Carceller-Benito, Manuel Parrón-Pajares, Fernando Santos-Simarro, Karen E. Heath
Front Genet. 2022; 13: 1089417. Published online 2023 Jan 4. doi: 10.3389/fgene.2022.1089417
PMCID:
PMC9845400
ArticlePDF–1.0M
2.
TWIST1, a gene associated with Saethre-Chotzen syndrome, regulates extraocular muscle organization in mouse
Mary C. Whitman, Nicole M. Gilette, Jessica L. Bell, Seoyoung Kim, Max Tischfield, Elizabeth C. Engle
Dev Biol. Author manuscript; available in PMC 2022 Dec 20.
Published in final edited form as: Dev Biol. 2022 Oct; 490: 126–133. Published online 2022 Aug 6. doi: 10.1016/j.ydbio.2022.07.010
PMCID:
PMC9765759
ArticlePDF–2.1M
3.
Evaluation of dental maturity in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis
Tsun M Choi, Gem J C Kramer, Jacqueline A C Goos, Irene M J Mathijssen, Eppo B Wolvius, Edwin M Ongkosuwito
Eur J Orthod. 2022 Jun; 44(3): 287–293. Published online 2021 Aug 23. doi: 10.1093/ejo/cjab056
PMCID:
PMC9127722
ArticlePDF–596K
4.
Craniofacial morphology and growth in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis
T. M. Choi, O. W. Lijten, I. M. J. Mathijssen, E. B. Wolvius, E. M. Ongkosuwito
Clin Oral Investig. 2022; 26(3): 2927–2936. Published online 2021 Dec 14. doi: 10.1007/s00784-021-04275-y
PMCID:
PMC8898243
ArticlePDF–1.0M
5.
Saethre–Chotzen syndrome: long‐term outcome of a syndrome‐specific management protocol
Bianca K Den Ottelander, Marie‐Lise C Van Veelen, Robbin De Goederen, Stephanie DC Van De Beeten, Marjolein HG Dremmen, Sjoukje E Loudon, Sarah L Versnel, Ans MW Van Den Ouweland, Marieke F Van Dooren, Koen FM Joosten, Irene MJ Mathijssen
Dev Med Child Neurol. 2021 Jan; 63(1): 104–110. Published online 2020 Sep 9. doi: 10.1111/dmcn.14670
PMCID:
PMC7754116
ArticlePDF–851K
6.
Pharmacological targeting of KDM6A and KDM6B, as a novel therapeutic strategy for treating craniosynostosis in Saethre-Chotzen syndrome
Clara Pribadi, Esther Camp, Dimitrios Cakouros, Peter Anderson, Carlotta Glackin, Stan Gronthos
Stem Cell Res Ther. 2020; 11: 529. Published online 2020 Dec 9. doi: 10.1186/s13287-020-02051-5
PMCID:
PMC7726873
ArticlePDF–3.7M
7.
Disruption of TWIST1 translation by 5′ UTR variants in Saethre‐Chotzen syndrome
Yan Zhou, Nils Koelling, Aimée L. Fenwick, Simon J. McGowan, Eduardo Calpena, Steven A. Wall, Sarah F. Smithson, Andrew O.M. Wilkie, Stephen R.F. Twigg
Hum Mutat. 2018 Oct; 39(10): 1360–1365. Published online 2018 Aug 7. doi: 10.1002/humu.23598
PMCID:
PMC6175480
ArticlePDF–700K
8.
A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome
Arpita Rai Thakur, Venkatesh G Naikmasur
Indian J Dent. 2014 Apr-Jun; 5(2): 96–99. doi: 10.4103/0975-962X.135276
PMCID:
PMC4184321
ArticlePDF–937K
9.
REOPERATION FOR INTRACRANIAL HYPERTENSION IN TWIST1 CONFIRMED SAETHRE-CHOTZEN SYNDROME: A 15 YEAR REVIEW
Roger H Woods, Ehtesham Ul-Haq, Andrew OM Wilkie, Jayaratnam Jayamohan, Peter G Richards, David Johnson, Tracy Lester, Steven A Wall
Plast Reconstr Surg. Author manuscript; available in PMC 2009 Dec 1.
Published in final edited form as: Plast Reconstr Surg. 2009 Jun; 123(6): 1801–1810. doi: 10.1097/PRS.0b013e3181a3f391
PMCID:
PMC2719244
ArticlePDF–1.5M
10.
Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities
Beth A. Firulli, Dayana Krawchuk, Victoria E. Centonze, David M. Virshup, Simon J. Conway, Peter Cserjesi, Ed Laufer, Anthony B. Firulli
Nat Genet. Author manuscript; available in PMC 2008 Oct 16.
Published in final edited form as: Nat Genet. 2005 Apr; 37(4): 373–381. Published online 2005 Feb 27. doi: 10.1038/ng1525
PMCID:
PMC2568820
ArticlePDF–3.2M
11.
Evidence That the Saethre-Chotzen Syndrome Locus Lies between D7S664 and D7S507, by Genetic Analysis and Detection of a Microdeletion in a Patient
Amy Feldman Lewanda, Eric D. Green, Jean Weissenbach, Heather Jerald, Eugene Taylor, Marshall L. Summar, John A. Phillips, Melinda Cohen, Murray Feingold, Wendy Mouradian, Sterling K. Clarren, Ethylin Wang Jabs
Am J Hum Genet. 1994 Dec; 55(6): 1195–1201.
PMCID:
PMC1918444
SummaryPage BrowsePDF–1.3M
12.
Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p--and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q.
L. van Herwerden, C. S. Rose, W. Reardon, L. A. Brueton, J. Weissenbach, S. Malcolm, R. M. Winter
Am J Hum Genet. 1994 Apr; 54(4): 669–674.
PMCID:
PMC1918100
SummaryPage BrowsePDF–705K
13.
Down-Regulation of Ubiquitin Ligase Cbl Induced by Twist Haploinsufficiency in Saethre-Chotzen Syndrome Results in Increased PI3K/Akt Signaling and Osteoblast Proliferation
Hind Guenou, Karim Kaabeche, Cécilie Dufour, Hichem Miraoui, Pierre J. Marie
Am J Pathol. 2006 Oct; 169(4): 1303–1311. doi: 10.2353/ajpath.2006.060102
PMCID:
PMC1698848
ArticlePDF–1.7M
14.
Mutations in Snail Family Genes Enhance Craniosynostosis of Twist1 Haplo-insufficient Mice: Implications for Saethre-Chotzen Syndrome
Kathleen F. Oram, Thomas Gridley
Genetics. 2005 Jun; 170(2): 971–974. doi: 10.1534/genetics.105.041277
PMCID:
PMC1450388
ArticlePDF–185K
15.
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.
W A Paznekas, M L Cunningham, T D Howard, B R Korf, M H Lipson, A W Grix, M Feingold, R Goldberg, Z Borochowitz, K Aleck, J Mulliken, M Yin, E W Jabs
Am J Hum Genet. 1998 Jun; 62(6): 1370–1380. doi: 10.1086/301855
PMCID:
PMC1377134
Abstract
16.
Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families.
A O Wilkie, S P Yang, D Summers, M D Poole, W Reardon, R M Winter
J Med Genet. 1995 Mar; 32(3): 174–180. doi: 10.1136/jmg.32.3.174
PMCID:
PMC1050312
SummaryPage BrowsePDF–2.4M
17.
Parietal foramina in Saethre-Chotzen syndrome
E M Thompson, M Baraitser, R D Hayward
J Med Genet. 1984 Oct; 21(5): 369–372. doi: 10.1136/jmg.21.5.369
PMCID:
PMC1049319
SummaryPage BrowsePDF–961K
18.
The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p.
L A Brueton, L van Herwerden, K A Chotai, R M Winter
J Med Genet. 1992 Oct; 29(10): 681–685. doi: 10.1136/jmg.29.10.681
PMCID:
PMC1016122
SummaryPage BrowsePDF–745K
19.
Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome?
E Legius, J P Fryns, H Van den Berghe
J Med Genet. 1989 Aug; 26(8): 522–524. doi: 10.1136/jmg.26.8.522
PMCID:
PMC1015676
SummaryPage BrowsePDF–867K
20.
Increased bone formation and decreased osteocalcin expression induced by reduced Twist dosage in Saethre-Chotzen syndrome
M. Yousfi, F. Lasmoles, A. Lomri, P. Delannoy, P.J. Marie
J Clin Invest. 2001 May 1; 107(9): 1153–1161. doi: 10.1172/JCI11846
PMCID:
PMC209280
ArticlePDF–2.1M

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