PMC Articles for MedGen (Select 64221) - PMC

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

Abstract Article PDF–700K

Select item 10161228.

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

Summary Page Browse PDF–745K

Select item 10493199.

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

Summary Page Browse PDF–961K

Select item 912772210.

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

Abstract Article PDF–596K

Select item 20928011.

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

Abstract Article PDF–2.1M

Select item 984540012.

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

Abstract Article PDF–1.0M

Select item 256882013.

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

Abstract Article PDF–3.2M

Select item 772687314.

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

Abstract Article PDF–3.7M

Select item 191810015.

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

Summary Page Browse PDF–705K

Select item 191844416.

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

Summary Page Browse PDF–1.3M

Select item 169884817.

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

Abstract Article PDF–1.7M

Select item 775411618.

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