| 1 | DEL6PD, FOXC1
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| Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene.
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| Delahaye A, Khung-Savatovsky S, Aboura A, Guimiot F, Drunat S, Alessandri JL, Gérard M, Bitoun P, Boumendil J, Robin S, Huel C, Guilherme R, Serero S, Gressens P, Elion J, Verloes A, Benzacken B, Delezoide AL, Pipiras E.
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| Am J Med Genet A 158A(10):2430-8. doi: 10.1002/ajmg.a.35548. Epub 2012 Aug 17. 2012
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| 2 | DEL6PD, FOXC1, PITX2
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| PITX2 and FOXC1 spectrum of mutations in ocular syndromes.
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| Reis LM, Tyler RC, Volkmann Kloss BA, Schilter KF, Levin AV, Lowry RB, Zwijnenburg PJ, Stroh E, Broeckel U, Murray JC, Semina EV.
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| Eur J Hum Genet 20(12):1224-33. doi: 10.1038/ejhg.2012.80. Epub 2012 May 9.
2012
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| 3 | AXR1, DEL6PD, FOXC1
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| Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: Clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25.
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| Tonoki H, Harada N, Shimokawa O, Yosozumi A, Monzaki K, Satoh K, Kosaki R, Sato A, Matsumoto N, Iizuka S.
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| Am J Med Genet A 155(12):2925-32. doi: 10.1002/ajmg.a.33858. Epub 2011 Oct 18.
2011
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| 4 | DEL6PD
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| A 12 Mb deletion of 6p24.1-->pter in an 18-gestational-week fetus with orofacial clefting, the Dandy-Walker malformation and bilateral multicystic kidneys.
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| Chen CP, Tzen CY, Chern SR, Tsai FJ, Hsu CY, Lee CC, Lee MS, Pan CW, Wang W.
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| Eur J Med Genet 52(1):59-61. Epub 2008 Nov 19.
2009
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| 5 | DEL6PD, DWM2, FOXC1
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| FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.
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| Aldinger KA, Lehmann OJ, Hudgins L, Chizhikov VV, Bassuk AG, Ades LC, Krantz ID, Dobyns WB, Millen KJ.
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| Nat Genet 41(9):1037-42. Epub 2009 Aug 9.
2009
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| 6 | DEL6PD
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| Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients.
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| Martinet D, Filges I, Besuchet Schmutz N, Morris MA, Gaide AC, Dahoun S, Bottani A, Addor MC, Antonarakis SE, Beckmann JS, Bna F.
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| Am J Med Genet A 146A(16):2094-102. 2008
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| 7 | DEL6PD, FOXC1, AXRI
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| Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion.
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| Martinez-Glez V, Lorda-Sanchez I, Ramirez JM, Ruiz-Barnes P, Rodriguez de Alba M, Diego-Alvarez D, Ramos C, Searby CC, Nishimura DY, Ayuso C.
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| Eur J Med Genet 50(2):120-7. Epub 2006 Oct 28. 2007
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| 8 | DEL6PD
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| The 6p subtelomere deletion syndrome.
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| DeScipio C.
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| Am J Med Genet C Semin Med Genet 145C(4):377-382. 2007
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| 9 | DEL6PD, AXRI
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| Case of chromosome 6p25 terminal deletion associated with Axenfeld-Rieger syndrome and persistent hyperplastic primary vitreous.
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| Suzuki K, Nakamura M, Amano E, Mokuno K, Shirai S, Terasaki H.
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| Am J Med Genet A 140(5):503-8. 2006
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| 10 | DEL6PD
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| Schizophrenia in an adult with 6p25 deletion syndrome.
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| Caluseriu O, Mirza G, Ragoussis J, Chow EW, Maccrimmon D, Bassett AS.
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| Am J Med Genet A 140(11):1208-13. 2006
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| 11 | DEL6PD
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| Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndrome.
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| Kannu P, Oei P, Slater HR, Khammy O, Aftimos S.
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| Am J Med Genet A 140(18):1955-9. 2006
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| 12 | DEL6PD, CCCCR
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| Subtelomeric deletions of chromosome 6p: Molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.
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| Descipio C, Schneider L, Young TL, Wasserman N, Yaeger D, Lu F, Wheeler PG, Williams MS, Bason L, Jukofsky L, Menon A, Geschwindt R, Chudley AE, Saraiva J, Schinzel AA, Guichet A, Dobyns WE, Toutain A, Spinner NB, Krantz ID.
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| Am J Med Genet A 134A(1):3-11 [Epub ahead of print] 2005
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| 13 | DEL6PD
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| Case report: Y;6 translocation with deletion of 6p.
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| Klein OD, Backstrand K, Cotter PD, Marco E, Sherr E, Slavotinek A.
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| Clin Dysmorphol 14(2):93-96. 2005
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| 14 | DEL6PD
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| Subtelomeric 6p deletion: clinical, FISH, and array CGH characterization of two cases.
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| Le Caignec C, De Mas P, Vincent MC, Boceno M, Bourrouillou G, Rival JM, David A.
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| Am J Med Genet A 132(2):175-80. 2005
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| 15 | DEL6PD
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| Terminal deletion of 6p results in a recognizable phenotype.
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| Lin RJ, Cherry AM, Chen KC, Lyons M, Hoyme HE, Hudgins L.
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| Am J Med Genet A 136(2):162-8. 2005
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| 16 | DEL6PD, FOXC1, AXRI
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| Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome.
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| Maclean K, Smith J, St Heaps L, Chia N, Williams R, Peters GB, Onikul E, McCrossin T, Lehmann OJ, Ades LC.
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| Am J Med Genet A 132(4):381-5. Review. 2005
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| 17 | DEL6PD, FOXC1
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| Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1.
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| Koolen DA, Knoers NV, Nillesen WM, Slabbers GH, Smeets D, de Leeuw N, Sistermans EA, de Vries BB.
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| Eur J Hum Genet 13(11):1169-71. No abstract available. 2005
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| 18 | DEL6PD
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| Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes.
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| Mirza G, Williams RR, Mohammed S, Clark R, Newbury-Ecob R, Baldinger S, Flinter F, Ragoussis J.
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| Eur J Hum Genet 12(9):718-28. 2004
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| 19 | DEL6PD
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| Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment.
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| Gould DB, Jaafar MS, Addison MK, Munier F, Ritch R, MacDonald IM, Walter MA.
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| BMC Med Genet 5(1):17. Review. 2004
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| 20 | DEL6PD
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| Mild developmental delay in terminal chromosome 6p deletion.
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| Chen KM, Cherry AM, Hahn JS, Enns GM.
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| Am J Med Genet 129A(2):201-5. 2004
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| 21 | DEL6PD, AXRI
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| Chromosomal anomalies on 6p25 in iris hypoplasia and Axenfeld-Rieger syndrome patients defined on a purpose-built genomic microarray.
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| Ekong R, Jeremiah S, Judah D, Lehmann O, Mirzayans F, Hung YC, Walter MA, Bhattacharya S, Gant TW, Povey S, Wolfe J.
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| Hum Mutat 24(1):76-85. 2004
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| 22 | DEL6PD, FOXC1, FOXF2, FOXQ1, RG6
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| FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6.
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| Zhang HZ, Li P, Wang D, Huff S, Nimmakayalu M, Qumsiyeh M, Pober BR.
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| Am J Med Genet A 124(3):280-7. Review. 2004
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| 23 | DEL6PD, DEL6PI
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| Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes.
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| Mirza G, Williams RR, Mohammed S, Clark R, Newbury-Ecob R, Baldinger S, Flinter F, Ragoussis J.
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| Eur J Hum Genet 12(9):718-28.
2004
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| 24 | DEL6PD
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| Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment.
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| Anderlid BM, Schoumans J, Hallqvist A, Stahl Y, Wallin A, Blennow E, Nordenskjold M.
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| Eur J Hum Genet 11(1):89-92. 2003
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| 25 | FOXC1, DEL6PD, AXRI
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| Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions.
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| Lehmann OJ, Ebenezer ND, Ekong R, Ocaka L, Mungall AJ, Fraser S, McGill JI, Hitchings RA, Khaw PT, Sowden JC, Povey S, Walter MA, Bhattacharya SS, Jordan T.
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| Invest Ophthalmol Vis Sci 43(6):1843-9. 2002
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| 26 | DEL6PD, FOXC1, TFAP2A
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| An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2alpha that affects anterior eye chamber development.
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| Davies AF, Mirza G, Flinter F, Ragoussis J.
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| J Med Genet 36(9):708-10 1999
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| 27 | DEL6PD
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| Delineation of two distinct 6p deletion syndromes.
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| Davies AF, Mirza G, Sekhon G, Turnpenny P, Leroy F, Speleman F, Law C, van Regemorter N, Vamos E, Flinter F, Ragoussis J.
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| Hum Genet 104(1):64-72. 1999
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| 28 | DEL6PD, DEL6PI
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| Delineation of two distinct 6p deletion syndromes.
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| Davies AF, Mirza G, Sekhon G, Turnpenny P, Leroy F, Speleman F, Law C, van Regemorter N, Vamos E, Flinter F, Ragoussis J.
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| Hum Genet 104(1):64-72.
1999
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| 29 | DEL6PD
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| Distal 6p deletion syndrome : a report of a case with anterior chamber eye anomaly and review of published reports.
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| Law CJ, et al.
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| J Med Genet 35 : 685-689. 1998
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| 30 | DEL6PD
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| Distal 6p deletion syndrome: a report of a case with anterior chamber eye anomaly and review of published reports.
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| Law CJ, Fisher AM, Temple IK.
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| J Med Genet 35(8):685-9. Review. 1998
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| 31 | DEL6PD
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| A detailed investigation of two cases exhibiting characteristics of the 6p deletion syndrome.
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| Davies AF, Olavesen MG, Stephens RJ, Davidson R, Delneste D, Van Regemorter N, Vamos E, Flinter F, Abusaad I, Ragoussis J.
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| Hum Genet 98(4):454-9. 1996
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