1 | DEL7P21, TWIST1
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| Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature.
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| Busche A, Graul-Neumann LM, Zweier C, Rauch A, Klopocki E, Horn D.
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| Eur J Med Genet 54(3):256-61. Epub 2011 Feb 17.
2011
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2 | DEL7P21, TWIST
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| Severe Developmental Delay in a Patient with 7p21.1-p14.3 Microdeletion Spanning the TWIST Gene and the HOXA Gene Cluster.
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| Fryssira H, Makrythanasis P, Kattamis A, Stokidis K, Menten B, Kosaki K, Willems P, Kanavakis E.
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| Mol Syndromol 2(1):45-49. Epub 2011 Nov 12.
2011
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3 | DEL11QD, DEL7P21, DEL9P, DUP5Q35, FGFR2, FGFR3, MSX2, TWIST
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| Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.
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| Wilkie AO, Byren JC, Hurst JA, Jayamohan J, Johnson D, Knight SJ, Lester T, Richards PG, Twigg SR, Wall SA.
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| Pediatrics 126(2):e391-400. Epub 2010 Jul 19.PMID: 20643727 2010
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4 | TWIST, ASC3, DEL7P21
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| TWIST microdeletion identified by array CGH in a patient presenting Saethre-Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7.
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| 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.
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| Eur J Med Genet 51(2):156-64. Epub 2007 Dec 24. 2008
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5 | DEL11QD, DEL7P21, DEL9PD
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| 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.
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| 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.
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| J Med Genet 45(7):447-50. Epub 2008 May 2. 2008
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6 | DEL7P21
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| Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis.
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| Shetty S, Boycott KM, Gillan TL, Bowser K, Parboosingh JS, McInnes B, Chernos JE, Bernier FP.
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| Clin Dysmorphol 16(4):253-256. 2007
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7 | DEL7P21
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| Deletion involving the TWIST locus and the HOXA cluster: a contiguous gene syndrome on 7p?
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| Kosaki R, Higuchi M, Mitsui N, Matsushima K, Ohashi H, Kosaki K.
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| Congenit Anom (Kyoto) 45(1):35-8. 2005
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8 | ACS3, DEL7P21, TWIST
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| Deletion of the TWIST gene in a large five-generation family.
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| De Heer IM, Hoogeboom AJ, Eussen HJ, Vaandrager JM, De Klein A.
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| Clin Genet 65(5):396-9. 2004
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9 | ACS3, TWIST1, ACS1, DEL7P21
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| Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.
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| 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.
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| Hum Genet 114(1):68-76. Epub 2003 Sep 25. 2003
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10 | FERD3L, TWISTNB, TWISTNBP, DEL7P21, TWIST1
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| Identification and characterisation of the gene TWIST NEIGHBOR (TWISTNB) located in the microdeletion syndrome 7p21 region.
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| Kosan C, Kunz J.
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| Cytogenet Genome Res 97(3-4):167-70. 2002
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11 | ACS3, TWIST1, DEL7P21
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| A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: fluorescence in situ hybridization and dosage-sensitive Southern blot analysis.
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| Gripp KW, Kasparcova V, McDonald-McGinn DM, Bhatt S, Bartlett SP, Storm AL, Drumheller TC, Emanuel BS, Zackai EH, Stolle CA.
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| Genet Med 3(2):102-8. 2001
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12 | ACS1, ACS3, CRS10, CRS11, DEL7P21, CRS5A, CRS5B, CRS6, CRS7B, CRS8, BSCGS1, CRSCNS, FGFR1, FGFR2, FGFR3, MSX2, SADDAN, TWIST1
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| Craniosynostosis Syndromes: From Genes to Premature Fusion of Skull Bones.
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| Hehr U, et al.
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| Mol Genet Metab 68(2):139-151. No abstract available 1999
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13 | DEL7P21, TWIST1
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| A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.
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| 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.
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| Am J Hum Genet 63(5):1282-93. 1998
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14 | DEL7P21, TWIST1
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| A new twist: some patients with Saethre-Chotzen syndrome have a microdeletion syndrome.
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| Zackai EH, Stolle CA.
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| Am J Hum Genet 63(5):1277-81. Review. No abstract available. 1998
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15 | ACS3, TWIST1, DEL7P21
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| The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases.
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| Rose CS, Patel P, Reardon W, Malcolm S, Winter RM.
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| Hum Mol Genet 6(8):1369-73. 1997
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16 | CRS, DEL7P21
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| Craniosynostosis and hemizygosity for D7S135 caused by a De novo and apparently balanced t(6;7) translocation.
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| Tsuji K, et al.
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| Am J Med Genet 49 : 98-102. 1994
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17 | DEL7P21, DEL7PP
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| Six cases of 7p deletion : clinical, cytogenetic, and molecular studies.
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| Chotai KA, et al.
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| Am J Med Genet 51 : 270-276. 1994
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18 | CRS, DEL7P21
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| Is loss of band 7p21 really critical for manifestation of cranosynostosis in 7p-?
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| Kikkawa K, et al.
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| Am J Med Genet 45 : 108-110. 1993
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19 | CRS, DEL7P21
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| Chromosome 7p- syndrome : craniosynostosis with preservation of region 7p2.
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| Aughton DJ, et al.
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| Am J Med Genet 40 : 440-443. 1991
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20 | CRS, DEL7P21
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| De novo terminal deletion 7p22.1-pter in a child without craniosynostosis.
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| Speleman F, et al.
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| J Med Genet 26 : 528-532. 1989
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21 | CRS, DEL7P21
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| De novo del(7)(pter-p21.2::p15.2-qter) and craniosynostosis. Implications for the critical segment assignment in the 7p2 monosomy syndrome.
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| Garc’a-Esquivel L, et al.
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| Ann Genet 29 : 36-38. 1986
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22 | CRS, DEL7P21
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| Trisomy 7p due to a mosaic normal/dir dup (7)(p13-p22). Syndrome delineation, critical segment assignment, and a comment on duplications.
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| Cantœ JM, et al.
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| Ann Genet 28 : 254-257. 1985
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23 | CRS, DEL7P21
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| 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.
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| Motegi T, et al.
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| Hum Genet 71 : 160-162. 1985
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