Citations for
1DEL7P21, TWIST1
Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature.
Busche A, Graul-Neumann LM, Zweier C, Rauch A, Klopocki E, Horn D.
Eur J Med Genet 54(3):256-61. Epub 2011 Feb 17. 2011
2DEL7P21, TWIST
Severe Developmental Delay in a Patient with 7p21.1-p14.3 Microdeletion Spanning the TWIST Gene and the HOXA Gene Cluster.
Fryssira H, Makrythanasis P, Kattamis A, Stokidis K, Menten B, Kosaki K, Willems P, Kanavakis E.
Mol Syndromol 2(1):45-49. Epub 2011 Nov 12. 2011
3DEL11QD, DEL7P21, DEL9P, DUP5Q35, FGFR2, FGFR3, MSX2, TWIST
Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.
Wilkie AO, Byren JC, Hurst JA, Jayamohan J, Johnson D, Knight SJ, Lester T, Richards PG, Twigg SR, Wall SA.
Pediatrics 126(2):e391-400. Epub 2010 Jul 19.PMID: 20643727 2010
4TWIST, ASC3, DEL7P21
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 51(2):156-64. Epub 2007 Dec 24. 2008
5DEL11QD, DEL7P21, DEL9PD
High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation.
Jehee FS, Krepischi-Santos AC, Rocha KM, Cavalcanti DP, Kim CA, Bertola DR, Alonso LG, D'Angelo CS, Mazzeu JF, Froyen G, Lugtenberg D, Vianna-Morgante AM, Rosenberg C, Passos-Bueno MR.
J Med Genet 45(7):447-50. Epub 2008 May 2. 2008
6DEL7P21
Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis.
Shetty S, Boycott KM, Gillan TL, Bowser K, Parboosingh JS, McInnes B, Chernos JE, Bernier FP.
Clin Dysmorphol 16(4):253-256. 2007
7DEL7P21
Deletion involving the TWIST locus and the HOXA cluster: a contiguous gene syndrome on 7p?
Kosaki R, Higuchi M, Mitsui N, Matsushima K, Ohashi H, Kosaki K.
Congenit Anom (Kyoto) 45(1):35-8. 2005
8ACS3, DEL7P21, TWIST
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 65(5):396-9. 2004
9ACS3, TWIST1, ACS1, DEL7P21
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 114(1):68-76. Epub 2003 Sep 25. 2003
10FERD3L, TWISTNB, TWISTNBP, DEL7P21, TWIST1
Identification and characterisation of the gene TWIST NEIGHBOR (TWISTNB) located in the microdeletion syndrome 7p21 region.
Kosan C, Kunz J.
Cytogenet Genome Res 97(3-4):167-70. 2002
11ACS3, TWIST1, DEL7P21
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 3(2):102-8. 2001
12ACS1, ACS3, CRS10, CRS11, DEL7P21, CRS5A, CRS5B, CRS6, CRS7B, CRS8, BSCGS1, CRSCNS, FGFR1, FGFR2, FGFR3, MSX2, SADDAN, TWIST1
Craniosynostosis Syndromes: From Genes to Premature Fusion of Skull Bones.
Hehr U, et al.
Mol Genet Metab 68(2):139-151. No abstract available 1999
13DEL7P21, TWIST1
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, Njolstad PR, Kunz J, Ashworth GJ, Wall SA, Kearney L, Wilkie AO.
Am J Hum Genet 63(5):1282-93. 1998
14DEL7P21, TWIST1
A new twist: some patients with Saethre-Chotzen syndrome have a microdeletion syndrome.
Zackai EH, Stolle CA.
Am J Hum Genet 63(5):1277-81. Review. No abstract available. 1998
15ACS3, TWIST1, DEL7P21
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 6(8):1369-73. 1997
16CRS, DEL7P21
Craniosynostosis and hemizygosity for D7S135 caused by a De novo and apparently balanced t(6;7) translocation.
Tsuji K, et al.
Am J Med Genet 49 : 98-102. 1994
17DEL7P21, DEL7PP
Six cases of 7p deletion : clinical, cytogenetic, and molecular studies.
Chotai KA, et al.
Am J Med Genet 51 : 270-276. 1994
18CRS, DEL7P21
Is loss of band 7p21 really critical for manifestation of cranosynostosis in 7p-?
Kikkawa K, et al.
Am J Med Genet 45 : 108-110. 1993
19CRS, DEL7P21
Chromosome 7p- syndrome : craniosynostosis with preservation of region 7p2.
Aughton DJ, et al.
Am J Med Genet 40 : 440-443. 1991
20CRS, DEL7P21
De novo terminal deletion 7p22.1-pter in a child without craniosynostosis.
Speleman F, et al.
J Med Genet 26 : 528-532. 1989
21CRS, DEL7P21
De novo del(7)(pter-p21.2::p15.2-qter) and craniosynostosis. Implications for the critical segment assignment in the 7p2 monosomy syndrome.
Garc’a-Esquivel L, et al.
Ann Genet 29 : 36-38. 1986
22CRS, DEL7P21
Trisomy 7p due to a mosaic normal/dir dup (7)(p13-p22). Syndrome delineation, critical segment assignment, and a comment on duplications.
Cantœ JM, et al.
Ann Genet 28 : 254-257. 1985
23CRS, DEL7P21
A craniosynostosis in a boy with a del(7)(p15.3p21.3) : assignment by deletion mapping of the critical segment for craniosynostosis to the mid-portion of 7p21.
Motegi T, et al.
Hum Genet 71 : 160-162. 1985