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Items: 1 to 20 of 93

1.

A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.

Rieder MJ, Green GE, Park SS, Stamper BD, Gordon CT, Johnson JM, Cunniff CM, Smith JD, Emery SB, Lyonnet S, Amiel J, Holder M, Heggie AA, Bamshad MJ, Nickerson DA, Cox TC, Hing AV, Horst JA, Cunningham ML.

Am J Hum Genet. 2012 May 4;90(5):907-14. doi: 10.1016/j.ajhg.2012.04.002. Erratum in: Am J Hum Genet. 2012 Jun 8;90(6):1116. Am J Hum Genet. 2012 Aug 10;91(2):397.

2.

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.

Gordon CT, Vuillot A, Marlin S, Gerkes E, Henderson A, AlKindy A, Holder-Espinasse M, Park SS, Omarjee A, Sanchis-Borja M, Bdira EB, Oufadem M, Sikkema-Raddatz B, Stewart A, Palmer R, McGowan R, Petit F, Delobel B, Speicher MR, Aurora P, Kilner D, Pellerin P, Simon M, Bonnefont JP, Tobias ES, García-Miñaúr S, Bitner-Glindzicz M, Lindholm P, Meijer BA, Abadie V, Denoyelle F, Vazquez MP, Rotky-Fast C, Couloigner V, Pierrot S, Manach Y, Breton S, Hendriks YM, Munnich A, Jakobsen L, Kroisel P, Lin A, Kaban LB, Basel-Vanagaite L, Wilson L, Cunningham ML, Lyonnet S, Amiel J.

J Med Genet. 2013 Mar;50(3):174-86. doi: 10.1136/jmedgenet-2012-101331. Epub 2013 Jan 12.

PMID:
23315542
3.

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.

Gordon CT, Petit F, Kroisel PM, Jakobsen L, Zechi-Ceide RM, Oufadem M, Bole-Feysot C, Pruvost S, Masson C, Tores F, Hieu T, Nitschké P, Lindholm P, Pellerin P, Guion-Almeida ML, Kokitsu-Nakata NM, Vendramini-Pittoli S, Munnich A, Lyonnet S, Holder-Espinasse M, Amiel J.

Am J Hum Genet. 2013 Dec 5;93(6):1118-25. doi: 10.1016/j.ajhg.2013.10.023. Epub 2013 Nov 21.

4.

Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations.

Kido Y, Gordon CT, Sakazume S, Ben Bdira E, Dattani M, Wilson LC, Lyonnet S, Murakami N, Cunningham ML, Amiel J, Nagai T.

Am J Med Genet A. 2013 Sep;161A(9):2339-46. doi: 10.1002/ajmg.a.36066. Epub 2013 Aug 2.

PMID:
23913798
5.

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.

Romanelli Tavares VL, Gordon CT, Zechi-Ceide RM, Kokitsu-Nakata NM, Voisin N, Tan TY, Heggie AA, Vendramini-Pittoli S, Propst EJ, Papsin BC, Torres TT, Buermans H, Capelo LP, den Dunnen JT, Guion-Almeida ML, Lyonnet S, Amiel J, Passos-Bueno MR.

Eur J Hum Genet. 2015 Apr;23(4):481-5. doi: 10.1038/ejhg.2014.132. Epub 2014 Jul 16.

6.

Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies.

Clouthier DE, Passos-Bueno MR, Tavares AL, Lyonnet S, Amiel J, Gordon CT.

Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):306-17. doi: 10.1002/ajmg.c.31376. Epub 2013 Oct 4. Review.

7.

Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.

Leoni C, Gordon CT, Della Marca G, Giorgio V, Onesimo R, Perrino F, Cianfoni A, Cerchiari A, Amiel J, Zampino G.

Am J Med Genet A. 2016 Jun;170(6):1471-8. doi: 10.1002/ajmg.a.37625. Epub 2016 Mar 23.

PMID:
27007857
8.

Dominant-negative Gα subunits are a mechanism of dysregulated heterotrimeric G protein signaling in human disease.

Marivin A, Leyme A, Parag-Sharma K, DiGiacomo V, Cheung AY, Nguyen LT, Dominguez I, Garcia-Marcos M.

Sci Signal. 2016 Apr 12;9(423):ra37. doi: 10.1126/scisignal.aad2429.

9.

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.

Romanelli Tavares VL, Zechi-Ceide RM, Bertola DR, Gordon CT, Ferreira SG, Hsia GS, Yamamoto GL, Ezquina SA, Kokitsu-Nakata NM, Vendramini-Pittoli S, Freitas RS, Souza J, Raposo-Amaral CA, Zatz M, Amiel J, Guion-Almeida ML, Passos-Bueno MR.

Am J Med Genet A. 2017 Apr;173(4):938-945. doi: 10.1002/ajmg.a.38101.

PMID:
28328130
10.

Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I.

Rattanasopha S, Tongkobpetch S, Srichomthong C, Kitidumrongsook P, Suphapeetiporn K, Shotelersuk V.

J Med Genet. 2014 Dec;51(12):817-23. doi: 10.1136/jmedgenet-2014-102576. Epub 2014 Oct 20.

PMID:
25332435
11.

Endothelin regulates neural crest deployment and fate to form great vessels through Dlx5/Dlx6-independent mechanisms.

Kim KS, Arima Y, Kitazawa T, Nishiyama K, Asai R, Uchijima Y, Sato T, Levi G, Kitanaka S, Igarashi T, Kurihara Y, Kurihara H.

Mech Dev. 2013 Nov-Dec;130(11-12):553-66. doi: 10.1016/j.mod.2013.07.005. Epub 2013 Aug 8.

12.

A LINE-1 insertion in DLX6 is responsible for cleft palate and mandibular abnormalities in a canine model of Pierre Robin sequence.

Wolf ZT, Leslie EJ, Arzi B, Jayashankar K, Karmi N, Jia Z, Rowland DJ, Young A, Safra N, Sliskovic S, Murray JC, Wade CM, Bannasch DL.

PLoS Genet. 2014 Apr 3;10(4):e1004257. doi: 10.1371/journal.pgen.1004257. eCollection 2014 Apr.

13.

Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4.

Johansson P, Aoude LG, Wadt K, Glasson WJ, Warrier SK, Hewitt AW, Kiilgaard JF, Heegaard S, Isaacs T, Franchina M, Ingvar C, Vermeulen T, Whitehead KJ, Schmidt CW, Palmer JM, Symmons J, Gerdes AM, Jönsson G, Hayward NK.

Oncotarget. 2016 Jan 26;7(4):4624-31. doi: 10.18632/oncotarget.6614.

14.

Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.

Wang X, Xin Q, Li L, Li J, Zhang C, Qiu R, Qian C, Zhao H, Liu Y, Shan S, Dang J, Bian X, Shao C, Gong Y, Liu Q.

Eur J Hum Genet. 2014 Sep;22(9):1105-10. doi: 10.1038/ejhg.2014.7. Epub 2014 Feb 5.

15.

Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families.

Sowińska-Seidler A, Badura-Stronka M, Latos-Bieleńska A, Stronka M, Jamsheer A.

Birth Defects Res A Clin Mol Teratol. 2014 Oct;100(10):764-71. doi: 10.1002/bdra.23298. Epub 2014 Sep 5.

PMID:
25196357
16.

Endothelin-1 regulates the dorsoventral branchial arch patterning in mice.

Ozeki H, Kurihara Y, Tonami K, Watatani S, Kurihara H.

Mech Dev. 2004 Apr;121(4):387-95.

17.

Phenotypic subregions within the split-hand/foot malformation 1 locus.

Rasmussen MB, Kreiborg S, Jensen P, Bak M, Mang Y, Lodahl M, Budtz-Jørgensen E, Tommerup N, Tranebjærg L, Rendtorff ND.

Hum Genet. 2016 Mar;135(3):345-57. doi: 10.1007/s00439-016-1635-0. Epub 2016 Feb 2.

PMID:
26839112
18.

Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation.

Shamseldin HE, Faden MA, Alashram W, Alkuraya FS.

J Med Genet. 2012 Jan;49(1):16-20. doi: 10.1136/jmedgenet-2011-100556. Epub 2011 Nov 25.

PMID:
22121204
19.

Spatio-temporal dynamics of gene expression of the Edn1-Dlx5/6 pathway during development of the lower jaw.

Vieux-Rochas M, Mantero S, Heude E, Barbieri O, Astigiano S, Couly G, Kurihara H, Levi G, Merlo GR.

Genesis. 2010 Jun;48(6):262-373. doi: 10.1002/dvg.20625.

20.

Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35).

Brown KK, Reiss JA, Crow K, Ferguson HL, Kelly C, Fritzsch B, Morton CC.

Hum Genet. 2010 Jan;127(1):19-31. doi: 10.1007/s00439-009-0736-4.

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