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Items: 1 to 20 of 126

1.

Saethre-Chotzen syndrome: a case report.

Peña WA, Slavotinek A, Oberoi S.

Cleft Palate Craniofac J. 2010 May;47(3):318-21. doi: 10.1597/07-202.1.

PMID:
19860490
2.

Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome.

Kress W, Schropp C, Lieb G, Petersen B, Büsse-Ratzka M, Kunz J, Reinhart E, Schäfer WD, Sold J, Hoppe F, Pahnke J, Trusen A, Sörensen N, Krauss J, Collmann H.

Eur J Hum Genet. 2006 Jan;14(1):39-48.

3.

The natural history of patients treated for TWIST1-confirmed Saethre-Chotzen syndrome.

Foo R, Guo Y, McDonald-McGinn DM, Zackai EH, Whitaker LA, Bartlett SP.

Plast Reconstr Surg. 2009 Dec;124(6):2085-95. doi: 10.1097/PRS.0b013e3181bf83ce.

PMID:
19952666
4.

Saethre–Chotzen syndrome with an atypical phenotype: identification of TWIST microdeletion by array CGH.

Cho E, Yang TH, Shin ES, Byeon JH, Kim GH, Eun BL.

Childs Nerv Syst. 2013 Nov;29(11):2101-4.

PMID:
23958897
5.

Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.

Woods RH, Ul-Haq E, Wilkie AO, Jayamohan J, Richards PG, Johnson D, Lester T, Wall SA.

Plast Reconstr Surg. 2009 Jun;123(6):1801-10. doi: 10.1097/PRS.0b013e3181a3f391. Review.

6.

Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

Paznekas WA, Cunningham ML, Howard TD, Korf BR, Lipson MH, Grix AW, Feingold M, Goldberg R, Borochowitz Z, Aleck K, Mulliken J, Yin M, Jabs EW.

Am J Hum Genet. 1998 Jun;62(6):1370-80.

7.

Clinical and genetic analysis of patients with Saethre-Chotzen syndrome.

de Heer IM, de Klein A, van den Ouweland AM, Vermeij-Keers C, Wouters CH, Vaandrager JM, Hovius SE, Hoogeboom JM.

Plast Reconstr Surg. 2005 Jun;115(7):1894-902; discussion 1903-5.

PMID:
15923834
8.

Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities.

Firulli BA, Krawchuk D, Centonze VE, Vargesson N, Virshup DM, Conway SJ, Cserjesi P, Laufer E, Firulli AB.

Nat Genet. 2005 Apr;37(4):373-81. Epub 2005 Feb 27.

9.

Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations.

di Rocco F, Baujat G, Arnaud E, Rénier D, Laplanche JL, Daire VC, Collet C.

Eur J Hum Genet. 2014 Dec;22(12):1413-6. doi: 10.1038/ejhg.2014.57. Epub 2014 Apr 16.

10.

Germline mutation screening of the Saethre-Chotzen-associated genes TWIST1 and FGFR3 in families with BRCA1/2-negative breast cancer.

Bergman A, Sahlin P, Emanuelsson M, Carén H, Tarnow P, Martinsson T, Grönberg H, Stenman G.

Scand J Plast Reconstr Surg Hand Surg. 2009;43(5):251-5. doi: 10.3109/02844310903247228.

PMID:
19863427
11.

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.

Sharma VP, Fenwick AL, Brockop MS, McGowan SJ, Goos JA, Hoogeboom AJ, Brady AF, Jeelani NO, Lynch SA, Mulliken JB, Murray DJ, Phipps JM, Sweeney E, Tomkins SE, Wilson LC, Bennett S, Cornall RJ, Broxholme J, Kanapin A; 500 Whole-Genome Sequences (WGS500) Consortium, Johnson D, Wall SA, van der Spek PJ, Mathijssen IM, Maxson RE, Twigg SR, Wilkie AO.

Nat Genet. 2013 Mar;45(3):304-7. doi: 10.1038/ng.2531. Epub 2013 Jan 27. Erratum in: Nat Genet. 2013 Oct;45(10):1261.

12.

Women with Saethre-Chotzen syndrome are at increased risk of breast cancer.

Sahlin P, Windh P, Lauritzen C, Emanuelsson M, Grönberg H, Stenman G.

Genes Chromosomes Cancer. 2007 Jul;46(7):656-60.

PMID:
17437280
13.

Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome.

El Ghouzzi V, Lajeunie E, Le Merrer M, Cormier-Daire V, Renier D, Munnich A, Bonaventure J.

Eur J Hum Genet. 1999 Jan;7(1):27-33.

14.

Prenatal diagnosis of a 7p15-p21 deletion encompassing the TWIST1 gene involved in Saethre-Chotzen syndrome.

Spaggiari E, Aboura A, Sinico M, Mabboux P, Dupont C, Delezoide AL, Guimiot F.

Eur J Med Genet. 2012 Aug-Sep;55(8-9):498-501. doi: 10.1016/j.ejmg.2012.04.006. Epub 2012 May 5.

PMID:
22569119
15.

Genetic investigations of Saethre-Chotzen syndrome presenting with renal cell carcinoma.

Seifert G, Kress W, Meisel C, Henze G, Seeger K.

Cancer Genet Cytogenet. 2006 Nov;171(1):76-8.

PMID:
17074596
16.

Mutations of the TWIST gene in the Saethre-Chotzen syndrome.

el Ghouzzi V, Le Merrer M, Perrin-Schmitt F, Lajeunie E, Benit P, Renier D, Bourgeois P, Bolcato-Bellemin AL, Munnich A, Bonaventure J.

Nat Genet. 1997 Jan;15(1):42-6.

PMID:
8988167
17.

A child with Saethre-Chotzen syndrome, sensorineural hearing loss, and a TWIST mutation.

Lee S, Seto M, Sie K, Cunningham M.

Cleft Palate Craniofac J. 2002 Jan;39(1):110-4. Review.

PMID:
11772178
18.

TWIST microdeletion identified by array CGH in a patient presenting Saethre-Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7.

Schluth-Bolard C, Till M, Labalme A, Rey C, Banquart E, Fautrelle A, Martin-Denavit T, Le Lorc'h M, Romana SP, Lazar V, Edery P, Sanlaville D.

Eur J Med Genet. 2008 Mar-Apr;51(2):156-64. doi: 10.1016/j.ejmg.2007.12.003. Epub 2007 Dec 24.

PMID:
18255367
19.

Mutations in the human TWIST gene.

Gripp KW, Zackai EH, Stolle CA.

Hum Mutat. 2000;15(2):150-5. Review. Erratum in: Hum Mutat 2000;15(5):479.

PMID:
10649491
20.

Clinical findings in four Brazilian families affected by Saethre-Chotzen syndrome without TWIST mutations.

Nascimento SR, de Mello MP, Batista JC, Balarin MA, Lopes VL.

Cleft Palate Craniofac J. 2004 May;41(3):250-5.

PMID:
15151448

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