| 1 | HPE2, HPE3, HPE4, HPE5, SHH, SIX3, TGIF1, ZIC2
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| Analysis of genotype-phenotype correlations in human holoprosencephaly.
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| Solomon BD, Mercier S, Vélez JI, Pineda-Alvarez DE, Wyllie A, Zhou N, Dubourg C, David V, Odent S, Roessler E, Muenke M.
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| Am J Med Genet C Semin Med Genet 154C(1):133-41. Review.PMID: 20104608 2010
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| 2 | HPE2, HPE3, HPE4, HPE5, TGIF, shh, six3, zic2
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| The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.
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| Paulussen AD, Schrander-Stumpel CT, Tserpelis DC, Spee MK, Stegmann AP, Mancini GM, Brooks AS, Collée M, Maat-Kievit A, Simon ME, van Bever Y, Stolte-Dijkstra I, Kerstjens-Frederikse WS, Herkert JC, van Essen AJ, Lichtenbelt KD, van Haeringen A, Kwee ML, Lachmeijer AM, Tan-Sindhunata GM, van Maarle MC, Arens YH, Smeets EE, de Die-Smulders CE, Engelen JJ, Smeets HJ, Herbergs J.
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| Eur J Hum Genet 18(9):999-1005.
2010
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| 3 | HPE2, SIX3
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| Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
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| Lacbawan F, Solomon BD, Roessler E, El-Jaick K, Domené S, Vélez JI, Zhou N, Hadley D, Balog JZ, Long R, Fryer A, Smith W, Omar S, McLean SD, Clarkson K, Lichty A, Clegg NJ, Delgado MR, Levey E, Stashinko E, Potocki L, Vanallen MI, Clayton-Smith J, Donnai D, Bianchi DW, Juliusson PB, Njølstad PR, Brunner HG, Carey JC, Hehr U, Müsebeck J, Wieacker PF, Postra A, Hennekam RC, van den Boogaard MJ, van Haeringen A, Paulussen A, Herbergs J, Schrander-Stumpel CT, Janecke AR, Chitayat D, Hahn J, McDonald-McGinn DM, Zackai EH, Dobyns WB, Muenke M.
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| J Med Genet 46(6):389-98. Epub 2009 Apr 2.
2009
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| 4 | HPE2, SIX3
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| A novel SIX3 mutation segregates with holoprosencephaly in a large family.
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| Solomon BD, Lacbawan F, Jain M, Domené S, Roessler E, Moore C, Dobyns WB, Muenke M.
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| Am J Med Genet A 149A(5):919-25.
2009
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| 5 | APR3, HPE1, HPE10, HPE12, HPE13, HPE14, HPE15, HPE16, HPE17, HPE2, HPE3, HPE4, HPE5, HPE6, HPE7, HPE8, HPE9, SHH, SIX3, TGIF, ZIC2
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| Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: an updated map of candidate loci.
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| Bendavid C, Rochard L, Dubourg C, Seguin J, Gicquel I, Pasquier L, Vigneron J, Laquerrière A, Marcorelles P, Jeanne-Pasquier C, Rouleau C, Jaillard S, Mosser J, Odent S, David V.
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| Hum Mutat 30(8):1175-82. 2009
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| 6 | HPE2, SHH, SIX3
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| Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein.
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| Jeong Y, Leskow FC, El-Jaick K, Roessler E, Muenke M, Yocum A, Dubourg C, Li X, Geng X, Oliver G, Epstein DJ.
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| Nat Genet 40(11):1348-53. Epub 2008 Oct 5.
2008
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| 7 | HPE2, SIX3
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| Mutations in the human SIX3 gene in holoprosencephaly are loss of function.
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| Domené S, Roessler E, El-Jaick KB, Snir M, Brown JL, Vélez JI, Bale S, Lacbawan F, Muenke M, Feldman B.
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| Hum Mol Genet 17(24):3919-28. Epub 2008 Sep 12.
2008
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| 8 | HPE1, HPE10, HPE12, HPE17, HPE2, HPE3, HPE4, HPE5, HPE6, HPE7, HPE8, HPE9
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| Holoprosencephaly.
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| Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V.
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| Orphanet J Rare Dis 2:8. Review. 2007
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| 9 | HPE1, HPE10, HPE12, HPE14, HPE15, HPE16, HPE17, HPE2, HPE3, HPE4, HPE5, HPE6, HPE7, HPE8, HPE9
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| Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts.
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| Haas D, Morgenthaler J, Lacbawan F, Long B, Runz H, Garbade SF, Zschocke J, Kelley RI, Okun JG, Hoffmann GF, Muenke M.
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| J Med Genet 44(5):298-305. Epub 2007 Jan 19. 2007
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| 10 | HPE3, HPE2, HPE4, HPE5, SHH, SIX3, TGIF1, ZIC2
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| Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes.
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| Bendavid C, Dubourg C, Gicquel I, Pasquier L, Saugier-Veber P, Durou MR, Jaillard S, Frebourg T, Haddad BR, Henry C, Odent S, David V.
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| Hum Genet 119(1-2):1-8. Epub 2005 Dec 2. 2006
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| 11 | 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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| 12 | HPE2, SIX3, NR4A3
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| Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1.
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| Laflamme C, Filion C, Labelle Y.
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| Hum Mutat 24(6):502-8. 2004
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| 13 | AIC, AXR2, CCA, CDG1D, DHOF, DPYD, HPE2, JBTS1, MCIA, MCOPCB2, MKS1, MRXS28, NBCCS2, NS1, OFCD, ONCR, OOD1, OPD2, RBP4, RIEG1, RSTS, TCOF1, WLKWS1, ZEB2
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| Ocular coloboma: a reassessment in the age of molecular neuroscience.
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| Gregory-Evans CY, Williams MJ, Halford S, Gregory-Evans K.
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| J Med Genet 41(12):881-91. 2004
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| 14 | SHH, ZIC2, SIX3, TGIF1, HPE3, HPE5, HPE2, HPE4
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| Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.
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| Dubourg C, Lazaro L, Pasquier L, Bendavid C, Blayau M, Le Duff F, Durou MR, Odent S, David V.
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| Hum Mutat 24(1):43-51. 2004
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| 15 | HPE2, HPE3, HPE4, HPE8, SHH, SIX3, TGIF1, ZIC2
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| Mutations in holoprosencephaly.
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| Wallis D, Muenke M.
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| Hum Mutat 16(2):99-108. 2000
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| 16 | HPE2, SIX3
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| A new mutation in the six-domain of SIX3 gene causes holoprosencephaly.
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| Pasquier L, Dubourg C, Blayau M, Lazaro L, Le Marec B, David V, Odent S.
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| Eur J Hum Genet 8(10):797-800. 2000
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| 17 | SIX3, HPE2
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| Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.
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| Wallis DE, et al.
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| Nat Genet 22(2):196-8. 1999
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| 18 | HPE2
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| Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21.
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| Schell U, et al.
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| Hum Mol Genet 5 : 223-229. 1996
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| 19 | HPE2
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| A region-specific microdissection library for human chromosome 2p23-p21 and the analysis of an interstitial deletion of 2p21.
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| Kao FT, et al.
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| Cytogenet Cell Genet 68 : 17-18. 1995
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| 20 | HPE2, D2S177, D2S288
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| Physical mapping of the holoprosencephaly minimal critical region in 2p21. (abstr)
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| Muenke M, et al.
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| Cytogenet Cell Genet 67 : 242. 1994
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| 21 | HPE2
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| Forebrain cleavage gene causing holoprosencephaly : deletion mapping to chromosome band 2p21.
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| Kaiser-McCaw Hecht B, et al.
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| Am J Med Genet 40 : 130. 1991
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| 22 | HPE2
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| Regional mapping of microdissected probes to the holoprosencephaly specific region on chromosome 2p.
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| Muenke M, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 1871. 1991
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| 23 | HPE2
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| Molecular studies in patients with holoprosencephaly and interstitial deletion of chromosome 2p.
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| MŸnke M, et al.
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| Am J Hum Genet 47 : A35. 1990
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| 24 | DEL2PO, HPE2
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| Holoprosencephaly and interstitial deletion of 2(p2101p2109).
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| Wilson WG, Shanks DE, Sudduth KW, Couper KA, McIlhenny J.
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| Am J Med Genet 34 : 252-254. 1989
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| 25 | HPE2
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| Clinical, cytogenetic, and molecular approaches to the genetic heterogeneity of holoprosencephaly.
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| MŸnke M.
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| Am J Med Genet 34 : 237-245. 1989
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| 26 | DEL2PO, HPE2
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| Prenatal detection of cyclopia associated with interstitial deletion of 2p.
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| Grundy HO, Niemeyer P, Rupani MK, Ward VF, Wassman ER.
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| Am J Med Genet 34(2):268-70. 1989
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| 27 | HPE2
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| Holoprosencephaly : association with interstitial deletion of 2p and review of the cytogenetic literature.
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| MŸnke M, et al.
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| Am J Med Genet 30 : 929-938. 1988
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