| 1 | BMP4, DEL14Q22
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| Variability in expression of a familial 2.79 Mb microdeletion in chromosome14q22.1-22.2.
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| Lumaka A, Van Hole C, Casteels I, Ortibus E, De Wolf V, Vermeesch JR, Lukusa T, Devriendt K.
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| Am J Med Genet A 158A(6):1381-7. doi: 10.1002/ajmg.a.35353. Epub 2012 May 11.
2012
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| 2 | BMP4, DEL14Q22 , MCOPS6
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| Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.
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| Bakrania P, Efthymiou M, Klein JC, Salt A, Bunyan DJ, Wyatt A, Ponting CP, Martin A, Williams S, Lindley V, Gilmore J, Restori M, Robson AG, Neveu MM, Holder GE, Collin JR, Robinson DO, Farndon P, Johansen-Berg H, Gerrelli D, Ragge NK.
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| Am J Hum Genet 82(2):304-19. Epub 2008 Jan 31. 2008
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| 3 | BMP4, DEL14Q22
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| Heterozygous deletion at 14q22.1-q22.3 including the BMP4 gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly.
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| Hayashi S, Okamoto N, Makita Y, Hata A, Imoto I, Inazawa J.
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| Am J Med Genet A m J Med Genet A. 2008 Oct 16. [Epub ahead of print]
2008
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| 4 | DEL14Q22, BAPA
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| Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies.
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| Nolen LD, Amor D, Haywood A, St Heaps L, Willcock C, Mihelec M, Tam P, Billson F, Grigg J, Peters G, Jamieson RV.
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| Am J Med Genet A 140(16):1711-8. 2006
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| 5 | SIX6, BAPA, DEL14Q22
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| Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia.
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| Gallardo ME, Rodriguez De Cordoba S, Schneider AS, Dwyer MA, Ayuso C, Bovolenta P.
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| Am J Med Genet 129A(1):92-4. No abstract available. 2004
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| 6 | DEL14Q22
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| 14q(22) deletion in a familial case of anophthalmia with polydactyly.
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| Ahmad ME, Dada R, Dada T, Kucheria K.
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| Am J Med Genet A 120(1):117-22. 2003
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| 7 | BAPA, SIX2, SIX4, SIX6, DEL14Q22
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| Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies.
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| Gallardo ME, Lopez-Rios J, Fernaud-Espinosa I, Granadino B, Sanz R, Ramos C, Ayuso C, Seller MJ, Brunner HG, Bovolenta P, Rodriguez de Cordoba S.
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| Genomics 61(1):82-91. 1999
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| 8 | DEL14Q22
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| Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia.
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| Lemyre E, Lemieux N, Decarie JC, Lambert M.
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| Am J Med Genet 77(2):162-5. Review. 1998
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| 9 | DEL14Q22
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| A case of deletion 14(q22.1-->q22.3) associated with anophthalmia and pituitary abnormalities.
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| Elliott J, Maltby EL, Reynolds B.
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| J Med Genet 30(3):251-2. Review. 1993
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| 10 | DEL14Q22
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| Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalities.
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| Bennett CP, Betts DR, Seller MJ.
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| J Med Genet 28(4):280-1. 1991
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