Similar articles for PMID: 12116251

Year	Number of Results
1977	3
1980	1
1984	1
1985	1
1989	1
1990	1
1991	2
1992	1
1993	2
1994	5
1995	4
1996	3
1997	11
1998	10
1999	3
2000	8
2001	16
2002	14
2003	8
2004	8
2005	12
2006	9
2007	6
2008	4
2009	9
2010	4
2011	6
2012	6
2013	7
2014	9
2015	7
2016	1
2017	6
2018	13
2019	5
2020	7
2021	6
2022	9
2023	4
2024	0

1

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

2

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. Paznekas WA, et al. Am J Hum Genet. 1998 Jun;62(6):1370-80. doi: 10.1086/301855. Am J Hum Genet. 1998. PMID: 9585583 Free PMC article.

3

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

4

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

5

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

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. 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

7

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

8

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. Bergman A, et al. Scand J Plast Reconstr Surg Hand Surg. 2009;43(5):251-5. doi: 10.3109/02844310903247228. Scand J Plast Reconstr Surg Hand Surg. 2009. PMID: 19863427

9

Mutations in the human TWIST gene.

Gripp KW, Zackai EH, Stolle CA. Gripp KW, et al. Hum Mutat. 2000;15(2):150-5. doi: 10.1002/(SICI)1098-1004(200002)15:2<150::AID-HUMU3>3.0.CO;2-D. Hum Mutat. 2000. PMID: 10649491 Review.

10

Deletion of the TWIST gene in a large five-generation family.

De Heer IM, Hoogeboom AJ, Eussen HJ, Vaandrager JM, De Klein A. De Heer IM, et al. Clin Genet. 2004 May;65(5):396-9. doi: 10.1111/j.0009-9163.2004.00244.x. Clin Genet. 2004. PMID: 15099347

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