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Items: 18

1.

Molecular analysis of holoprosencephaly in South America.

Savastano CP, El-Jaick KB, Costa-Lima MA, Abath CM, Bianca S, Cavalcanti DP, Félix TM, Scarano G, Llerena JC Jr, Vargas FR, Moreira MÂ, Seuánez HN, Castilla EE, Orioli IM.

Genet Mol Biol. 2014 Mar;37(1 Suppl):250-62.

2.

Defects in GPI biosynthesis perturb Cripto signaling during forebrain development in two new mouse models of holoprosencephaly.

McKean DM, Niswander L.

Biol Open. 2012 Sep 15;1(9):874-83. doi: 10.1242/bio.20121982. Epub 2012 Jul 9.

3.

Genetic Overlap between Holoprosencephaly and Kallmann Syndrome.

Vaaralahti K, Raivio T, Koivu R, Valanne L, Laitinen EM, Tommiska J.

Mol Syndromol. 2012 Jun;3(1):1-5. Epub 2012 May 16.

4.

Loss of Tgif function causes holoprosencephaly by disrupting the SHH signaling pathway.

Taniguchi K, Anderson AE, Sutherland AE, Wotton D.

PLoS Genet. 2012;8(2):e1002524. doi: 10.1371/journal.pgen.1002524. Epub 2012 Feb 23.

5.

RNA-Seq of human neurons derived from iPS cells reveals candidate long non-coding RNAs involved in neurogenesis and neuropsychiatric disorders.

Lin M, Pedrosa E, Shah A, Hrabovsky A, Maqbool S, Zheng D, Lachman HM.

PLoS One. 2011;6(9):e23356. doi: 10.1371/journal.pone.0023356. Epub 2011 Sep 7.

6.

NOTCH, a new signaling pathway implicated in holoprosencephaly.

Dupé V, Rochard L, Mercier S, Le Pétillon Y, Gicquel I, Bendavid C, Bourrouillou G, Kini U, Thauvin-Robinet C, Bohan TP, Odent S, Dubourg C, David V.

Hum Mol Genet. 2011 Mar 15;20(6):1122-31. doi: 10.1093/hmg/ddq556. Epub 2010 Dec 31.

7.

Analysis of genotype-phenotype correlations in human holoprosencephaly.

Solomon BD, Mercier S, Vélez JI, Pineda-Alvarez DE, Wyllie A, Zhou N, Dubourg C, David V, Odent S, Roessler E, Muenke M.

Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):133-41. doi: 10.1002/ajmg.c.30240. Review.

8.

Nodal morphogens.

Schier AF.

Cold Spring Harb Perspect Biol. 2009 Nov;1(5):a003459. doi: 10.1101/cshperspect.a003459. Review.

9.

Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly.

Roessler E, Pei W, Ouspenskaia MV, Karkera JD, Veléz JI, Banerjee-Basu S, Gibney G, Lupo PJ, Mitchell LE, Towbin JA, Bowers P, Belmont JW, Goldmuntz E, Baxevanis AD, Feldman B, Muenke M.

Mol Genet Metab. 2009 Sep-Oct;98(1-2):225-34. doi: 10.1016/j.ymgme.2009.05.005. Epub 2009 May 27.

10.

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.

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.

J Med Genet. 2009 Jun;46(6):389-98. doi: 10.1136/jmg.2008.063818. Epub 2009 Apr 2.

11.

Emerging roles of nodal and Cripto-1: from embryogenesis to breast cancer progression.

Strizzi L, Postovit LM, Margaryan NV, Seftor EA, Abbott DE, Seftor RE, Salomon DS, Hendrix MJ.

Breast Dis. 2008;29:91-103.

12.

Intraflagellar transport protein 172 is essential for primary cilia formation and plays a vital role in patterning the mammalian brain.

Gorivodsky M, Mukhopadhyay M, Wilsch-Braeuninger M, Phillips M, Teufel A, Kim C, Malik N, Huttner W, Westphal H.

Dev Biol. 2009 Jan 1;325(1):24-32. doi: 10.1016/j.ydbio.2008.09.019. Epub 2008 Sep 26.

13.

Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly.

Roessler E, Ouspenskaia MV, Karkera JD, Vélez JI, Kantipong A, Lacbawan F, Bowers P, Belmont JW, Towbin JA, Goldmuntz E, Feldman B, Muenke M.

Am J Hum Genet. 2008 Jul;83(1):18-29. doi: 10.1016/j.ajhg.2008.05.012. Epub 2008 Jun 5.

14.

SIX2 and BMP4 mutations associate with anomalous kidney development.

Weber S, Taylor JC, Winyard P, Baker KF, Sullivan-Brown J, Schild R, Knüppel T, Zurowska AM, Caldas-Alfonso A, Litwin M, Emre S, Ghiggeri GM, Bakkaloglu A, Mehls O, Antignac C, Network E, Schaefer F, Burdine RD.

J Am Soc Nephrol. 2008 May;19(5):891-903. doi: 10.1681/ASN.2006111282. Epub 2008 Feb 27.

15.

Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.

Karkera JD, Lee JS, Roessler E, Banerjee-Basu S, Ouspenskaia MV, Mez J, Goldmuntz E, Bowers P, Towbin J, Belmont JW, Baxevanis AD, Schier AF, Muenke M.

Am J Hum Genet. 2007 Nov;81(5):987-94. Epub 2007 Sep 28.

16.

Holoprosencephaly.

Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V.

Orphanet J Rare Dis. 2007 Feb 2;2:8. Review.

17.

Functional analysis of mutations in TGIF associated with holoprosencephaly.

El-Jaick KB, Powers SE, Bartholin L, Myers KR, Hahn J, Orioli IM, Ouspenskaia M, Lacbawan F, Roessler E, Wotton D, Muenke M.

Mol Genet Metab. 2007 Jan;90(1):97-111. Epub 2006 Sep 7. Review.

18.
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