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Results: 1 to 20 of 150

1.

Microdeletions of 5.5 Mb (4q13.2-q13.3) and 4.1 Mb (7p15.3-p21.1) associated with a saethre-chotzen-like phenotype, severe intellectual disability, and autism.

Shimada S, Okamoto N, Nomura S, Fukui M, Shimakawa S, Sangu N, Shimojima K, Osawa M, Yamamoto T.

Am J Med Genet A. 2013 Aug;161A(8):2078-83. doi: 10.1002/ajmg.a.36027. Epub 2013 Jul 4.

PMID:
23825006
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature.

Busche A, Graul-Neumann LM, Zweier C, Rauch A, Klopocki E, Horn D.

Eur J Med Genet. 2011 May-Jun;54(3):256-61. doi: 10.1016/j.ejmg.2011.02.002. Epub 2011 Feb 17.

PMID:
21333765
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

Genetic analysis of patients with the Saethre-Chotzen phenotype.

Chun K, Teebi AS, Jung JH, Kennedy S, Laframboise R, Meschino WS, Nakabayashi K, Scherer SW, Ray PN, Teshima I.

Am J Med Genet. 2002 Jun 15;110(2):136-43.

PMID:
12116251
[PubMed - indexed for MEDLINE]
8.

Saethre-Chotzen syndrome with severe developmental delay associated with deletion of chromosomic region 7p15 --> pter.

Touliatou V, Mavrou A, Kolialexi A, Kanavakis E, Kitsiou-Tzeli S.

Genet Couns. 2007;18(3):295-301.

PMID:
18019370
[PubMed - indexed for MEDLINE]
9.

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.

PMID:
16251895
[PubMed - indexed for MEDLINE]
Free Article
10.

Prenatal diagnosis of craniosynostosis (compound Saethre-Chotzen syndrome phenotype) caused by a de novo complex chromosomal rearrangement (1; 4; 7) with a microdeletion of 7p21.3-7p15.3, including TWIST1 gene--a case report.

Massalska D, Bijok J, Kucińska-Chahwan A, Jamsheer A, Bogdanowicz J, Jakiel G, Roszkowski T.

Ginekol Pol. 2014 Jul;85(7):541-4.

PMID:
25118508
[PubMed - indexed for MEDLINE]
11.

A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre-Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-oc.

De Marco P, Raso A, Beri S, Gimelli S, Merello E, Mascelli S, Baldi M, Baffico AM, Pavanello M, Cama A, Capra V, Giorda R, Gimelli G.

Eur J Med Genet. 2011 Sep-Oct;54(5):e478-83. doi: 10.1016/j.ejmg.2011.05.007. Epub 2011 Jun 25.

PMID:
21708297
[PubMed - indexed for MEDLINE]
12.

A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: fluorescence in situ hybridization and dosage-sensitive Southern blot analysis.

Gripp KW, Kasparcova V, McDonald-McGinn DM, Bhatt S, Bartlett SP, Storm AL, Drumheller TC, Emanuel BS, Zackai EH, Stolle CA.

Genet Med. 2001 Mar-Apr;3(2):102-8.

PMID:
11280946
[PubMed - indexed for MEDLINE]
13.

Deletion involving the TWIST locus and the HOXA cluster: a contiguous gene syndrome on 7p?

Kosaki R, Higuchi M, Mitsui N, Matsushima K, Ohashi H, Kosaki K.

Congenit Anom (Kyoto). 2005 Mar;45(1):35-8.

PMID:
15737130
[PubMed - indexed for MEDLINE]
14.

The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases.

Rose CS, Patel P, Reardon W, Malcolm S, Winter RM.

Hum Mol Genet. 1997 Aug;6(8):1369-73.

PMID:
9259286
[PubMed - indexed for MEDLINE]
Free Article
15.

Cytogenetic evidence that the Saethre-Chotzen gene maps to 7p21.2.

Reardon W, McManus SP, Summers D, Winter RM.

Am J Med Genet. 1993 Oct 1;47(5):633-6.

PMID:
8266988
[PubMed - indexed for MEDLINE]
16.

Saethre-Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7.

Zechi-Ceide RM, Rodrigues MG, Jehee FS, Kokitsu-Nakata NM, Passos-Bueno MR, Guion-Almeida ML.

Am J Med Genet A. 2012 Jul;158A(7):1680-5. doi: 10.1002/ajmg.a.35367. Epub 2012 May 24.

PMID:
22628249
[PubMed - indexed for MEDLINE]
17.

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.

PMID:
19483581
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.

Johnson D, Horsley SW, Moloney DM, Oldridge M, Twigg SR, Walsh S, Barrow M, Njølstad PR, Kunz J, Ashworth GJ, Wall SA, Kearney L, Wilkie AO.

Am J Hum Genet. 1998 Nov;63(5):1282-93.

PMID:
9792856
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Postnatal onset of craniosynostosis in a case of Saethre-Chotzen syndrome.

de Heer IM, Hoogeboom J, Vermeij-Keers C, de Klein A, Vaandrager JM.

J Craniofac Surg. 2004 Nov;15(6):1048-52.

PMID:
15547403
[PubMed - indexed for MEDLINE]
20.

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
[PubMed - indexed for MEDLINE]

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