205 related articles for article (PubMed ID: 15923834)
1. 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]
2. 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]
3. 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]
4. Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.
Woods RH; Ul-Haq E; Wilkie AOM; Jayamohan J; Richards PG; Johnson D; Lester T; Wall SA
Plast Reconstr Surg; 2009 Jun; 123(6):1801-1810. PubMed ID: 19483581
[TBL] [Abstract][Full Text] [Related]
5. 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]
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. 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]
8. 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]
9. 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]
10. 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):2085-2095. PubMed ID: 19952666
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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. PubMed ID: 16251895
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 9585583
[TBL] [Abstract][Full Text] [Related]
14. [Saethre-Chotzen syndrome: a case report].
Díez de Los Ríos Quintanero B; Gracia Rojas E; Ortiz Movilla R; Cabrejas Núñez MJ; Marín Gabriel MÁ
Arch Argent Pediatr; 2021 Apr; 119(2):e129-e132. PubMed ID: 33749202
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Postnatal Progressive Craniosynostosis in Syndromic Conditions: Two Patients With Saethre-Chotzen Due to
Alawneh RJ; Johnson AL; Hoover-Fong JE; Jackson EM; Steinberg JP; MacCarrick G
Cleft Palate Craniofac J; 2023 Aug; 60(8):1021-1028. PubMed ID: 35354337
[TBL] [Abstract][Full Text] [Related]
18. Saethre-Chotzen syndrome: a case report.
Peña WA; Slavotinek A; Oberoi S
Cleft Palate Craniofac J; 2010 May; 47(3):318-21. PubMed ID: 19860490
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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; 55(8-9):498-501. PubMed ID: 22569119
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]