237 related articles for article (PubMed ID: 9792856)
1. 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. PubMed ID: 9792856
[TBL] [Abstract][Full Text] [Related]
2. 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
Hum Genet; 2003 Dec; 114(1):68-76. PubMed ID: 14513358
[TBL] [Abstract][Full Text] [Related]
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
Nat Genet; 1997 Jan; 15(1):36-41. PubMed ID: 8988166
[TBL] [Abstract][Full Text] [Related]
4. 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
Hum Mol Genet; 1997 Jul; 6(7):1079-86. PubMed ID: 9215678
[TBL] [Abstract][Full Text] [Related]
5. 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; 110(2):136-43. PubMed ID: 12116251
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 9259286
[TBL] [Abstract][Full Text] [Related]
7. 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; 3(2):102-8. PubMed ID: 11280946
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 8988167
[TBL] [Abstract][Full Text] [Related]
9. A new twist: some patients with Saethre-Chotzen syndrome have a microdeletion syndrome.
Zackai EH; Stolle CA
Am J Hum Genet; 1998 Nov; 63(5):1277-81. PubMed ID: 9792855
[No Abstract] [Full Text] [Related]
10. Mutations in the human TWIST gene.
Gripp KW; Zackai EH; Stolle CA
Hum Mutat; 2000; 15(2):150-5. PubMed ID: 10649491
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 10094188
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 15923834
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 18019370
[TBL] [Abstract][Full Text] [Related]
14. Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre-Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9.
Shimbo H; Oyoshi T; Kurosawa K
Congenit Anom (Kyoto); 2018 Jan; 58(1):33-35. PubMed ID: 28220539
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 25118508
[TBL] [Abstract][Full Text] [Related]
16. 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; 47(5):633-6. PubMed ID: 8266988
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 15547403
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 23958897
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 23825006
[TBL] [Abstract][Full Text] [Related]
20. Deletion of the TWIST gene in a large five-generation family.
De Heer IM; Hoogeboom AJ; Eussen HJ; Vaandrager JM; De Klein A
Clin Genet; 2004 May; 65(5):396-9. PubMed ID: 15099347
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]