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Items: 1 to 20 of 102

1.

Three novel mutations in the PORCN gene underlying focal dermal hypoplasia.

Leoyklang P, Suphapeetiporn K, Wananukul S, Shotelersuk V.

Clin Genet. 2008 Apr;73(4):373-9. doi: 10.1111/j.1399-0004.2008.00975.x. Epub 2008 Mar 3.

PMID:
18325042
2.

Novel PORCN mutations in focal dermal hypoplasia.

Froyen G, Govaerts K, Van Esch H, Verbeeck J, Tuomi ML, Heikkilä H, Torniainen S, Devriendt K, Fryns JP, Marynen P, Järvelä I, Ala-Mello S.

Clin Genet. 2009 Dec;76(6):535-43. doi: 10.1111/j.1399-0004.2009.01248.x. Epub 2009 Oct 23.

PMID:
19863546
3.

Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.

Harmsen MB, Azzarello-Burri S, García González MM, Gillessen-Kaesbach G, Meinecke P, Müller D, Rauch A, Rossier E, Seemanova E, Spaich C, Steiner B, Wieczorek D, Zenker M, Kutsche K.

Eur J Hum Genet. 2009 Oct;17(10):1207-15. doi: 10.1038/ejhg.2009.40. Epub 2009 Mar 11.

4.

PORCN gene mutations and the protean nature of focal dermal hypoplasia.

Clements SE, Mellerio JE, Holden ST, McCauley J, McGrath JA.

Br J Dermatol. 2009 May;160(5):1103-9. doi: 10.1111/j.1365-2133.2009.09048.x. Epub 2009 Mar 9.

PMID:
19292719
5.

PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing.

Fernandes PH, Wen S, Sutton VR, Ward PA, Van den Veyver IB, Fang P.

Genet Test Mol Biomarkers. 2010 Oct;14(5):709-13. doi: 10.1089/gtmb.2010.0089. Epub 2010 Sep 20.

PMID:
20854095
6.

Novel and recurrent PORCN gene mutations in almost unilateral and typical focal dermal hypoplasia patients.

Nakanishi G, Hasegawa K, Oono T, Koshida S, Fujimoto N, Iwatsuki K, Tanaka H, Tanaka T.

Eur J Dermatol. 2013 Jan-Feb;23(1):64-7. doi: 10.1684/ejd.2012.1911.

PMID:
23399492
7.

PORCN mutations in focal dermal hypoplasia: coping with lethality.

Bornholdt D, Oeffner F, König A, Happle R, Alanay Y, Ascherman J, Benke PJ, Boente Mdel C, van der Burgt I, Chassaing N, Ellis I, Francisco CR, Della Giovanna P, Hamel B, Has C, Heinelt K, Janecke A, Kastrup W, Loeys B, Lohrisch I, Marcelis C, Mehraein Y, Nicolas ME, Pagliarini D, Paradisi M, Patrizi A, Piccione M, Piza-Katzer H, Prager B, Prescott K, Strien J, Utine GE, Zeller MS, Grzeschik KH.

Hum Mutat. 2009 May;30(5):E618-28. doi: 10.1002/humu.20992. Erratum in: Hum Mutat. 2009 Oct;30(10):1472-3.

PMID:
19309688
8.

A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia.

Maalouf D, Mégarbané H, Chouery E, Nasr J, Badens C, Lacoste C, Grzeschik KH, Mégarbané A.

Arch Dermatol. 2012 Jan;148(1):85-8. doi: 10.1001/archdermatol.2011.343.

PMID:
22250236
9.

Focal dermal hypoplasia without focal dermal hypoplasia.

Contreras-Capetillo SN, Lombardi MP, Pinto-Escalante D, Hennekam RC.

Am J Med Genet A. 2014 Mar;164A(3):778-81. doi: 10.1002/ajmg.a.36341. Epub 2013 Dec 19.

PMID:
24357603
10.

Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene.

Clements SE, Wessagowit V, Lai-Cheong JE, Arita K, McGrath JA.

J Dermatol Sci. 2008 Jan;49(1):39-42. Epub 2007 Oct 24.

PMID:
17951029
11.

Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion.

Vreeburg M, van Geel M, van den Heuij LG, Steijlen PM, van Steensel MA.

J Eur Acad Dermatol Venereol. 2011 May;25(5):592-5. doi: 10.1111/j.1468-3083.2010.03782.x.

PMID:
20626533
12.

Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome).

Liu W, Shaver TM, Balasa A, Ljungberg MC, Wang X, Wen S, Nguyen H, Van den Veyver IB.

PLoS One. 2012;7(3):e32331. doi: 10.1371/journal.pone.0032331. Epub 2012 Mar 6.

13.

A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth.

Dias C, Basto J, Pinho O, Barbêdo C, Mártins M, Bornholdt D, Fortuna A, Grzeschik KH, Lima M.

Fetal Pediatr Pathol. 2010;29(5):305-13. doi: 10.3109/15513811003796912.

PMID:
20704476
14.

[A novel PORCN gene mutation in a patient with focal dermal hypoplasia].

Liu Y, Zhou X, Deng H, He Y, Zhu H, Zhang X.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Dec;27(6):675-7. doi: 10.3760/cma.j.issn.1003-9406.2010.06.016. Chinese.

PMID:
21154331
15.

Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly.

Garavelli L, Simonte G, Rosato S, Wischmeijer A, Albertini E, Guareschi E, Longo C, Albertini G, Gelmini C, Greco C, Errico S, Savino G, Pavanello M, Happle R, Unger S, Superti-Furga A, Grzeschik KH.

Am J Med Genet A. 2013 Jul;161A(7):1750-4. doi: 10.1002/ajmg.a.35964. Epub 2013 May 21.

PMID:
23696273
16.

Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.

Grzeschik KH, Bornholdt D, Oeffner F, König A, del Carmen Boente M, Enders H, Fritz B, Hertl M, Grasshoff U, Höfling K, Oji V, Paradisi M, Schuchardt C, Szalai Z, Tadini G, Traupe H, Happle R.

Nat Genet. 2007 Jul;39(7):833-5. Epub 2007 Jun 3.

PMID:
17546031
17.

Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.

Wang X, Reid Sutton V, Omar Peraza-Llanes J, Yu Z, Rosetta R, Kou YC, Eble TN, Patel A, Thaller C, Fang P, Van den Veyver IB.

Nat Genet. 2007 Jul;39(7):836-8. Epub 2007 Jun 3.

PMID:
17546030
18.

Deletion of mouse Porcn blocks Wnt ligand secretion and reveals an ectodermal etiology of human focal dermal hypoplasia/Goltz syndrome.

Barrott JJ, Cash GM, Smith AP, Barrow JR, Murtaugh LC.

Proc Natl Acad Sci U S A. 2011 Aug 2;108(31):12752-7. doi: 10.1073/pnas.1006437108. Epub 2011 Jul 18.

19.

Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals.

Bostwick B, Fang P, Patel A, Sutton VR.

Am J Med Genet C Semin Med Genet. 2016 Mar;172C(1):9-20. doi: 10.1002/ajmg.c.31473. Epub 2016 Feb 7.

PMID:
26853229
20.

A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia.

Madan S, Liu W, Lu JT, Sutton VR, Toth B, Joe P, Waterson JR, Gibbs RA, Van den Veyver IB, Lammer EJ, Campeau PM, Lee BH.

Mol Genet Metab Rep. 2017 Jun 7;12:57-61. doi: 10.1016/j.ymgmr.2017.06.002. eCollection 2017 Sep.

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