390 related articles for article (PubMed ID: 8988166)
1. 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]
2. 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]
3. 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]
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
Nat Genet; 1997 Jan; 15(1):42-6. PubMed ID: 8988167
[TBL] [Abstract][Full Text] [Related]
5. 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]
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 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]
8. 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]
9. Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome.
El Ghouzzi V; Legeai-Mallet L; Benoist-Lasselin C; Lajeunie E; Renier D; Munnich A; Bonaventure J
FEBS Lett; 2001 Mar; 492(1-2):112-8. PubMed ID: 11248247
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Increased bone formation and decreased osteocalcin expression induced by reduced Twist dosage in Saethre-Chotzen syndrome.
Yousfi M; Lasmoles F; Lomri A; Delannoy P; Marie PJ
J Clin Invest; 2001 May; 107(9):1153-61. PubMed ID: 11342579
[TBL] [Abstract][Full Text] [Related]
12. Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities.
Firulli BA; Krawchuk D; Centonze VE; Vargesson N; Virshup DM; Conway SJ; Cserjesi P; Laufer E; Firulli AB
Nat Genet; 2005 Apr; 37(4):373-81. PubMed ID: 15735646
[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. 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]
15. Craniosynostosis in Twist heterozygous mice: a model for Saethre-Chotzen syndrome.
Carver EA; Oram KF; Gridley T
Anat Rec; 2002 Oct; 268(2):90-2. PubMed ID: 12221714
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Twist haploinsufficiency in Saethre-Chotzen syndrome induces calvarial osteoblast apoptosis due to increased TNFalpha expression and caspase-2 activation.
Yousfi M; Lasmoles F; El Ghouzzi V; Marie PJ
Hum Mol Genet; 2002 Feb; 11(4):359-69. PubMed ID: 11854168
[TBL] [Abstract][Full Text] [Related]
18. 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; 51(2):156-64. PubMed ID: 18255367
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]