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Items: 1 to 20 of 78

1.

VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.

Slavotinek AM, Chao R, Vacik T, Yahyavi M, Abouzeid H, Bardakjian T, Schneider A, Shaw G, Sherr EH, Lemke G, Youssef M, Schorderet DF.

Hum Mutat. 2012 Feb;33(2):364-8. doi: 10.1002/humu.21658. Epub 2011 Dec 27.

2.

Resequencing of VAX1 in patients with nonsyndromic cleft lip with or without cleft palate.

Nasser E, Mangold E, Tradowsky DC, Fier H, Becker J, Boehmer AC, Herberz R, Fricker N, Barth S, Wahle P, Nowak S, Reutter H, Reich RH, Lauster C, Braumann B, Kreusch T, Hemprich A, Pötzsch B, Hoffmann P, Kramer FJ, Knapp M, Lange C, Nöthen MM, Ludwig KU.

Birth Defects Res A Clin Mol Teratol. 2012 Nov;94(11):925-33. doi: 10.1002/bdra.23078. Epub 2012 Oct 18.

PMID:
23081944
3.

Replication of genome wide association identified candidate genes confirm the role of common and rare variants in PAX7 and VAX1 in the etiology of nonsyndromic CL(P).

Butali A, Suzuki S, Cooper ME, Mansilla AM, Cuenco K, Leslie EJ, Suzuki Y, Niimi T, Yamamoto M, Ayanga G, Erkhembaatar T, Furukawa H, Fujiwawa K, Imura H, Petrin AL, Natsume N, Beaty TH, Marazita ML, Murray JC.

Am J Med Genet A. 2013 May;161A(5):965-72. doi: 10.1002/ajmg.a.35749. Epub 2013 Mar 5.

4.

MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans.

van den Boogaard MJ, Dorland M, Beemer FA, van Amstel HK.

Nat Genet. 2000 Apr;24(4):342-3. No abstract available. Erratum in: Nat Genet 2000 May;25(1):125.

PMID:
10742093
5.

RAX and anophthalmia in humans: evidence of brain anomalies.

Abouzeid H, Youssef MA, Bayoumi N, ElShakankiri N, Marzouk I, Hauser P, Schorderet DF.

Mol Vis. 2012;18:1449-56. Epub 2012 Jun 2.

6.

DLX4 is associated with orofacial clefting and abnormal jaw development.

Wu D, Mandal S, Choi A, Anderson A, Prochazkova M, Perry H, Gil-Da-Silva-Lopes VL, Lao R, Wan E, Tang PL, Kwok PY, Klein O, Zhuan B, Slavotinek AM.

Hum Mol Genet. 2015 Aug 1;24(15):4340-52. doi: 10.1093/hmg/ddv167. Epub 2015 May 7.

7.
8.

[Mutational analysis of the muscle segment homeobox gene 1 (MSX1) in Chilean patients with cleft lip/palate].

Vieira AR, Castillo Taucher S, Aravena T, Astete C, Sanz P, Tastets ME, Monasterio L, Murray JC.

Rev Med Chil. 2004 Jul;132(7):816-22. Spanish.

PMID:
15379328
9.

Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia.

Uz E, Alanay Y, Aktas D, Vargel I, Gucer S, Tuncbilek G, von Eggeling F, Yilmaz E, Deren O, Posorski N, Ozdag H, Liehr T, Balci S, Alikasifoglu M, Wollnik B, Akarsu NA.

Am J Hum Genet. 2010 May 14;86(5):789-96. doi: 10.1016/j.ajhg.2010.04.002. Epub 2010 May 6.

10.

Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability.

Johansson S, Berland S, Gradek GA, Bongers E, de Leeuw N, Pfundt R, Fannemel M, Rødningen O, Brendehaug A, Haukanes BI, Hovland R, Helland G, Houge G.

Am J Med Genet A. 2014 Jul;164A(7):1622-6. doi: 10.1002/ajmg.a.36498. Epub 2014 Mar 26.

PMID:
24678003
11.

VSX2 mutations in autosomal recessive microphthalmia.

Reis LM, Khan A, Kariminejad A, Ebadi F, Tyler RC, Semina EV.

Mol Vis. 2011;17:2527-32. Epub 2011 Sep 28.

12.

Association of MSX1 and TGFB3 with nonsyndromic clefting in humans.

Lidral AC, Romitti PA, Basart AM, Doetschman T, Leysens NJ, Daack-Hirsch S, Semina EV, Johnson LR, Machida J, Burds A, Parnell TJ, Rubenstein JL, Murray JC.

Am J Hum Genet. 1998 Aug;63(2):557-68.

13.

Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy.

Iseri SU, Wyatt AW, Nürnberg G, Kluck C, Nürnberg P, Holder GE, Blair E, Salt A, Ragge NK.

Hum Genet. 2010 Jul;128(1):51-60. doi: 10.1007/s00439-010-0823-6. Epub 2010 Apr 23.

PMID:
20414678
14.

Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.

Ferda Percin E, Ploder LA, Yu JJ, Arici K, Horsford DJ, Rutherford A, Bapat B, Cox DW, Duncan AM, Kalnins VI, Kocak-Altintas A, Sowden JC, Traboulsi E, Sarfarazi M, McInnes RR.

Nat Genet. 2000 Aug;25(4):397-401.

PMID:
10932181
15.

Mutation analysis of the MSX1 gene exons and intron in patients with nonsyndromic cleft lip and palate.

Lace B, Vasiljeva I, Dundure I, Barkane B, Akota I, Krumina A.

Stomatologija. 2006;8(1):21-4.

16.

Corpus callosum shape is altered in individuals with nonsyndromic cleft lip and palate.

Weinberg SM, Parsons TE, Fogel MR, Walter CP, Conrad AL, Nopoulos P.

Am J Med Genet A. 2013 May;161A(5):1002-7. doi: 10.1002/ajmg.a.35835. Epub 2013 Mar 26.

PMID:
23532928
17.

VSX2 in microphthalmia: a novel splice site mutation producing a severe microphthalmia phenotype.

Burkitt Wright EM, Perveen R, Bowers N, Ramsden S, McCann E, O'Driscoll M, Lloyd IC, Clayton-Smith J, Black GC.

Br J Ophthalmol. 2010 Mar;94(3):386-8. doi: 10.1136/bjo.2009.159996. No abstract available.

PMID:
20215382
18.

A mutation in mouse Pak1ip1 causes orofacial clefting while human PAK1IP1 maps to 6p24 translocation breaking points associated with orofacial clefting.

Ross AP, Mansilla MA, Choe Y, Helminski S, Sturm R, Maute RL, May SR, Hozyasz KK, Wójcicki P, Mostowska A, Davidson B, Adamopoulos IE, Pleasure SJ, Murray JC, Zarbalis KS.

PLoS One. 2013 Jul 25;8(7):e69333. doi: 10.1371/journal.pone.0069333. Print 2013.

19.

Agenesis of the Corpus Callosum Due to Defective Glial Wedge Formation in Lhx2 Mutant Mice.

Chinn GA, Hirokawa KE, Chuang TM, Urbina C, Patel F, Fong J, Funatsu N, Monuki ES.

Cereb Cortex. 2015 Sep;25(9):2707-18. doi: 10.1093/cercor/bhu067. Epub 2014 Apr 29.

20.

CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds.

Bar-Yosef U, Abuelaish I, Harel T, Hendler N, Ofir R, Birk OS.

Hum Genet. 2004 Sep;115(4):302-9.

PMID:
15257456

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