| 1 | ALX4, PFM1
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| Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1
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| Walters ME, Lacassie Y, Azamian M, Franciskovich R, Zapata G, Hernandez PP, Liu P, Campbell IM, Bostwick BL, Lalani SR.
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| Am J Med Genet A. Mar;185(3):916-922. doi: 10.1002/ajmg.a.62036. Epub 2020 Dec 27. 2021
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| 2 | ALX4, DEL11PP
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| New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review.
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| Trajkova S, Di Gregorio E, Ferrero GB, Carli D, Pavinato L, Delplancq G, Kuentz P, Brusco A.
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| Brain Sci. Oct 28;10(11):788. doi: 10.3390/brainsci10110788. 2020
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| 3 | ALX4
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| ALX4, an epigenetically down regulated tumor suppressor, inhibits breast cancer progression by interfering Wnt/β-catenin pathway
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| Yang J, Han F, Liu W, Chen H, Hao X, Jiang X, Yin L, Huang Y, Cao J, Zhang H, Liu J.
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| J Exp Clin Cancer Res. Nov 28;36(1):170. doi: 10.1186/s13046-017-0643-9. 2017
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| 4 | ALX4
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| Alx4 relays sequential FGF signaling to induce lacrimal gland morphogenesis
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| Garg A, Bansal M, Gotoh N, Feng GS, Zhong J, Wang F, Kariminejad A, Brooks S, Zhang X.
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| PLoS Genet Oct 13;13(10):e1007047. doi: 10.1371/journal.pgen.1007047. 2017
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| 5 | ALX4
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| Methylation pattern of ALX4 gene promoter as a potential biomarker for blood-based early detection of colorectal cancer. 2015. PMID:
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| Salehi R, Atapour N, Vatandoust N, Farahani N, Ahangari F, Salehi AR.
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| Adv Biomed Res. Nov 30;4:252. doi: 10.4103/2277-9175.170677 2015
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| 6 | ALX4, FND2
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| Novel homozygous ALX4 mutation causing frontonasal dysplasia-2 in a patient with meningoencephalocele.
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| Meloni VA, Moysés-Oliveira M, Melo MC, Caneloi TP, Dantas AG, Soares MF, Fock R, Rodrigues de Nicola PD, Dias-da-Silva MR, Melaragno MI.
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| Clin Genet. Dec;88(6):593-6. doi: 10.1111/cge.12595. Epub 2015 May 11. 2015
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| 7 | ALX4, FND2
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| ALX4 gain-of-function mutations in nonsyndromic craniosynostosis.
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| Yagnik G, Ghuman A, Kim S, Stevens CG, Kimonis V, Stoler J, Sanchez-Lara PA, Bernstein JA, Naydenov C, Drissi H, Cunningham ML, Kim J, Boyadjiev SA.
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| Hum Mutat. Dec;33(12):1626-9. doi: 10.1002/humu.22166. Epub 2012 Aug 13. 2012
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| 8 | ALX4, FND2
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| ALX4 dysfunction disrupts craniofacial and epidermal development.
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| Kayserili H, Uz E, Niessen C, Vargel I, Alanay Y, Tuncbilek G, Yigit G, Uyguner O, Candan S, Okur H, Kaygin S, Balci S, Mavili E, Alikasifoglu M, Haase I, Wollnik B, Akarsu NA.
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| Hum Mol Genet 18(22):4357-66. Epub 2009 Aug 19. 2009
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| 9 | ALX4
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| Loss of ALX4 expression in epithelial cells and adjacent stromal cells in breast cancer.
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| Chang H, Mohabir N, Done S, Hamel PA.
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| J Clin Pathol 62(10):908-14.PMID: 19783719 2009
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| 10 | ALX4, DEL1QM
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| Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities.
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| Descartes M, Hain JZ, Conklin M, Franklin J, Mikhail FM, Lachman RS, Nolet S, Messiaen LM.
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| Am J Med Genet A 146A(22):2937-43. 2008
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| 11 | ALX4, DEL11PP, EXT2
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| Proximal chromosome 11p contiguous gene deletion syndrome phenotype: case report and review of the literature.
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| Romeike BF, Wuyts W.
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| Clin Neuropathol 26(1):1-11. Review. 2007
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| 12 | ALX4, DEL11PP, MSX2, PFM1, PFM2
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| Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.
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| Mavrogiannis LA, Taylor IB, Davies SJ, Ramos FJ, Olivares JL, Wilkie AO.
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| Eur J Hum Genet 14(2):151-8. 2006
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| 13 | ALX4, DEL11PP, EXT2
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| Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.
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| Wakui K, Gregato G, Ballif BC, Glotzbach CD, Bailey KA, Kuo PL, Sue WC, Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG.
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| Eur J Hum Genet 13(5):528-40. 2005
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| 14 | ALX4, PFM1, MNX1, SCRA, VSX1, KTCN1, VSX2, MCIA, SOPT, HESX1, HOXD13, PSDY2, MSX2, PFM2, SIX3, HPE2, DCS, SHOX
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| Homeodomain revisited: a lesson from disease-causing mutations.
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| Chi YI.
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| Hum Genet 116(6):433-44. Epub 2005 Feb 23. 2005
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| 15 | ALX4, DEL11PP, EXT2
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| Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects.
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| Wuyts W, Waeber G, Meinecke P, Schuler H, Goecke TO, Van Hul W, Bartsch O.
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| Eur J Hum Genet 12(5):400-6. Review. 2004
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| 16 | ALX4, MSX2, PFM1, PFM2
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| Alx4 and Msx2 play phenotypically similar and additive roles in skull vault differentiation.
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| Antonopoulou I, Mavrogiannis LA, Wilkie AO, Morriss-Kay GM.
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| J Anat 204(6):487-99.
2004
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| 17 | ALX4, DEL11PP, EXT2
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| Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4.
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| Hall CR, Wu Y, Shaffer LG, Hecht JT.
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| Clin Genet 60 : 356-359. 2001
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| 18 | ALX4, DEL11PP
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| Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.
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| Mavrogiannis LA, Antonopoulou I, Baxova A, Kutilek S, Kim CA, Sugayama SM, Salamanca A, Wall SA, Morriss-Kay GM, Wilkie AO.
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| Nat Genet 27(1):17-8. 2001
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| 19 | ALX4, DEL11PP, PFM1
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| The ALX4 homeobox gene is mutated in patients with ossification defects of the skull.
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| Wuyts W, Cleiren E, Homfray T, Rasore-Quartino A, Vanhoenacker F, Van Hul W.
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| J Med Genet 37(12):916-20. 2000
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| 20 | ALX4, DEL11PP, PFM1
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| Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome.
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| Wu YQ, Badano JL, McCaskill C, Vogel H, Potocki L, Shaffer LG.
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| Am J Hum Genet 67(5):1327-32. 2000
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