Similar articles for PMID: 9215678

Year	Number of Results
1977	2
1984	1
1990	1
1991	1
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1994	4
1995	6
1996	5
1997	7
1998	4
1999	3
2000	5
2001	8
2002	8
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2007	4
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2019	2
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2024	0

1

Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome.

Krebs I, Weis I, Hudler M, Rommens JM, Roth H, Scherer SW, Tsui LC, Füchtbauer EM, Grzeschik KH, Tsuji K, Kunz J. Krebs I, et al. Hum Mol Genet. 1997 Jul;6(7):1079-86. doi: 10.1093/hmg/6.7.1079. Hum Mol Genet. 1997. PMID: 9215678

2

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. Rose CS, et al. Hum Mol Genet. 1997 Aug;6(8):1369-73. doi: 10.1093/hmg/6.8.1369. Hum Mol Genet. 1997. PMID: 9259286

3

Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.

Howard TD, Paznekas WA, Green ED, Chiang LC, Ma N, Ortiz de Luna RI, Garcia Delgado C, Gonzalez-Ramos M, Kline AD, Jabs EW. Howard TD, et al. Nat Genet. 1997 Jan;15(1):36-41. doi: 10.1038/ng0197-36. Nat Genet. 1997. PMID: 8988166

4

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. el Ghouzzi V, et al. Nat Genet. 1997 Jan;15(1):42-6. doi: 10.1038/ng0197-42. Nat Genet. 1997. PMID: 8988167

5

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. Johnson D, et al. Am J Hum Genet. 1998 Nov;63(5):1282-93. doi: 10.1086/302122. Am J Hum Genet. 1998. PMID: 9792856 Free PMC article.

6

Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.

Cai J, Goodman BK, Patel AS, Mulliken JB, Van Maldergem L, Hoganson GE, Paznekas WA, Ben-Neriah Z, Sheffer R, Cunningham ML, Daentl DL, Jabs EW. Cai J, et al. Hum Genet. 2003 Dec;114(1):68-76. doi: 10.1007/s00439-003-1012-7. Epub 2003 Sep 25. Hum Genet. 2003. PMID: 14513358

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. de Heer IM, et al. Plast Reconstr Surg. 2005 Jun;115(7):1894-902; discussion 1903-5. doi: 10.1097/01.prs.0000165278.72168.51. Plast Reconstr Surg. 2005. PMID: 15923834

8

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. El Ghouzzi V, et al. Eur J Hum Genet. 1999 Jan;7(1):27-33. doi: 10.1038/sj.ejhg.5200240. Eur J Hum Genet. 1999. PMID: 10094188

9

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. Chun K, et al. Am J Med Genet. 2002 Jun 15;110(2):136-43. doi: 10.1002/ajmg.10400. Am J Med Genet. 2002. PMID: 12116251

10

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. Schluth-Bolard C, et al. Eur J Med Genet. 2008 Mar-Apr;51(2):156-64. doi: 10.1016/j.ejmg.2007.12.003. Epub 2007 Dec 24. Eur J Med Genet. 2008. PMID: 18255367

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