| 1 | DEL8P23
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| Maternal transmission of interstitial 8p23.1 deletion detected during prenatal diagnosis.
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| Guimiot F, Dupont C, Fuentes-Duarte A, Aboura A, Bazin A, Khung-Savatovsky S, Tillous-Borde I, Delezoide AL, Azancot A.
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| Am J Med Genet A 161(1):208-13. doi: 10.1002/ajmg.a.35690. Epub 2012 Dec 14.
2013
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| 2 | DEL8P23, GATA4, SOX7
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| Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1.
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| Wat MJ, Beck TF, Hernández-García A, Yu Z, Veenma D, Garcia M, Holder AM, Wat JJ, Chen Y, Mohila CA, Lally KP, Dickinson M, Tibboel D, de Klein A, Lee B, Scott DA.
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| Hum Mol Genet 21(18):4115-25. Epub 2012 Jun 20.
2012
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| 3 | DEL8P23, GATA4, SOX7
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| Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.
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| Longoni M, Lage K, Russell MK, Loscertales M, Abdul-Rahman OA, Baynam G, Bleyl SB, Brady PD, Breckpot J, Chen CP, Devriendt K, Gillessen-Kaesbach G, Grix AW, Rope AF, Shimokawa O, Strauss B, Wieczorek D, Zackai EH, Coletti CM, Maalouf FI, Noonan KM, Park JH, Tracy AA, Lee C, Donahoe PK, Pober BR.
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| Am J Med Genet A 158A(12):3148-58. doi: 10.1002/ajmg.a.35665. Epub 2012 Nov 19.
2012
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| 4 | DEL8P23, TNKS
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| Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature.
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| Ballarati L, Cereda A, Caselli R, Selicorni A, Recalcati MP, Maitz S, Finelli P, Larizza L, Giardino D.
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| Eur J Med Genet 54(1):55-9. Epub 2010 Oct 20.
2011
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| 5 | DEL8P21, DEL8P23, GATA4, LVNC
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| Noncompaction of the left ventricular myocardium in a boy with a novel chromosome 8p23.1 deletion.
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| Blinder JJ, Martinez HR, Craigen WJ, Belmont J, Pignatelli RH, Jefferies JL.
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| Am J Med Genet A 155(9):2215-20. doi: 10.1002/ajmg.a.34129. Epub 2011 Aug 10. 2011
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| 6 | DEL1P36, DEL8P23
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| Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1.
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| Digilio MC, Bernardini L, Lepri F, Giuffrida MG, Guida V, Baban A, Versacci P, Capolino R, Torres B, De Luca A, Novelli A, Marino B, Dallapiccola B.
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| Am J Med Genet A 155(9):2196-202. doi: 10.1002/ajmg.a.34131. Epub 2011 Aug 3.
2011
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| 7 | DEL8P23, DIH2, GATA4
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| Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.
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| Wat MJ, Shchelochkov OA, Holder AM, Breman AM, Dagli A, Bacino C, Scaglia F, Zori RT, Cheung SW, Scott DA, Kang SH.
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| Am J Med Genet A 149A(8):1661-1677. [Epub ahead of print]
2009
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| 8 | DEL8P23, GATA4
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| Two patients with atypical interstitial deletions of 8p23.1: mapping of phenotypical traits.
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| Paez MT, Yamamoto T, Hayashi K, Yasuda T, Harada N, Matsumoto N, Kurosawa K, Furutani Y, Asakawa S, Shimizu N, Matsuoka R.
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| Am J Med Genet A 146(9):1158-65. 2008
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| 9 | CSMD3, DEL8P23
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| Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area.
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| Floris C, Rassu S, Boccone L, Gasperini D, Cao A, Crisponi L.
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| Eur J Hum Genet 16(6):696-704. Epub 2008 Feb 13. 2008
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| 10 | DEL8P23, DIH2, CDLS, TANK1
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| Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter? A further locus for Cornelia de Lange syndrome.
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| Baynam G, Goldblatt J, Walpole I.
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| Am J Med Genet A 146A(12):1565-70. Review. 2008
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| 11 | DEL8P23, DUP8P23
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| Defensins and the dynamic genome: what we can learn from structural variation at human chromosome band 8p23.1.
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| Hollox EJ, Barber JC, Brookes AJ, Armour JA.
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| Genome Res 18(11):1686-97. Review.PMID: 18974263 2008
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| 12 | DIH1, DEL8P23, DIH2
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| Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1.
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| Slavotinek A, Lee SS, Davis R, Shrit A, Leppig KA, Rhim J, Jasnosz K, Albertson D, Pinkel D.
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| J Med Genet 42(9):730-6. 2005
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| 13 | INVDUPDEL8P, DEL8P23
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| Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements.
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| Giglio S, Broman KW, Matsumoto N, Calvari V, Gimelli G, Neumann T, Ohashi H, Voullaire L, Larizza D, Giorda R, Weber JL, Ledbetter DH, Zuffardi O.
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| Am J Hum Genet 68(4):874-83. Epub 2001 Feb 26. 2001
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| 14 | DEL8P23
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| Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects.
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| Giglio S, Graw SL, Gimelli G, Pirola B, Varone P, Voullaire L, Lerzo F, Rossi E, Dellavecchia C, Bonaglia MC, Digilio MC, Giannotti A, Marino B, Carrozzo R, Korenberg JR, Danesino C, Sujansky E, Dallapiccola B, Zuffardi O.
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| Circulation 102(4):432-7. 2000
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| 15 | GATA4, DEL8P23
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| GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease.
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| Pehlivan T. et al
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| Am J Med Genet 83 : 201-206. 1999
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| 16 | DEL8P23, IGAD1
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| Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.
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| Devriendt K, Matthijs G, Van Dael R, Gewillig M, Eyskens B, Hjalgrim H, Dolmer B, McGaughran J, Brondum-Nielsen K, Marynen P, Fryns JP, Vermeesch JR.
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| Am J Hum Genet 64(4):1119-26. 1999
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| 17 | DEL8P23
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| A paternally inherited terminal deletion, del(8)(p23.1)pat, detected prenatally in an amniotic fluid sample: a review of deletion 8p23.1 cases.
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| Reddy KS.
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| Prenat Diagn 19(9):868-72. 1999
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| 18 | CHD2, DEL8P23
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| Prenatal diagnosis of an 8p23.1 deletion in a fetus with a diaphragmatic hernia and review of the literature.
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| Faivre L, Morichon-Delvallez N, Viot G, Narcy F, Loison S, Mandelbrot L, Aubry MC, Raclin V, Edery P, Munnich A, Vekemans M.
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| Prenat Diagn 18(10):1055-60. Review. 1998
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| 19 | DEL8P23
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| A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8.
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| Claeys I, Holvoet M, Eyskens B, Adriaensens P, Gewillig M, Fryns JP, Devriendt K.
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| Am J Med Genet 74(5):515-20. 1997
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| 20 | DEL8P23
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| Distal 8p deletion (8)(p23.1): an easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation.
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| Wu BL, Schneider GH, Sabatino DE, Bozovic LZ, Cao B, Korf BR.
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| Am J Med Genet 62(1):77-83. 1996
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| 21 | DEL8P23
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| Interstitial deletion of 8p: report of two patients and review of the literature.
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| Tsukahara M, Murano I, Aoki Y, Kajii T, Furukawa S.
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| Clin Genet 48(1):41-5. Review.
1995
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| 22 | DEL8P, DEL8P23, DEL8PP
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| Interstitial deletion of 8p: report of two patients and review of the literature.
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| Tsukahara M, Murano I, Aoki Y, Kajii T, Furukawa S.
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| Clin Genet 48(1):41-5. Review. 1995
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