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Items: 1 to 20 of 48

1.

Ectodermal Dysplasia: A Case Report.

Srivastava VK.

Int J Clin Pediatr Dent. 2011 Sep-Dec;4(3):269-70. doi: 10.5005/jp-journals-10005-1124.

2.

Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients.

Zeng B, Xiao X, Li S, Lu H, Lu J, Zhu L, Yu D, Zhao W.

Genes (Basel). 2016 Sep 19;7(9). pii: E65. doi: 10.3390/genes7090065.

3.

A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation.

Adhikari K, Fuentes-Guajardo M, Quinto-Sánchez M, Mendoza-Revilla J, Camilo Chacón-Duque J, Acuña-Alonzo V, Jaramillo C, Arias W, Lozano RB, Pérez GM, Gómez-Valdés J, Villamil-Ramírez H, Hunemeier T, Ramallo V, Silva de Cerqueira CC, Hurtado M, Villegas V, Granja V, Gallo C, Poletti G, Schuler-Faccini L, Salzano FM, Bortolini MC, Canizales-Quinteros S, Cheeseman M, Rosique J, Bedoya G, Rothhammer F, Headon D, González-José R, Balding D, Ruiz-Linares A.

Nat Commun. 2016 May 19;7:11616. doi: 10.1038/ncomms11616.

4.

Zebrafish Craniofacial Development: A Window into Early Patterning.

Mork L, Crump G.

Curr Top Dev Biol. 2015;115:235-69. doi: 10.1016/bs.ctdb.2015.07.001. Review.

5.

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.

Prasad MK, Geoffroy V, Vicaire S, Jost B, Dumas M, Le Gras S, Switala M, Gasse B, Laugel-Haushalter V, Paschaki M, Leheup B, Droz D, Dalstein A, Loing A, Grollemund B, Muller-Bolla M, Lopez-Cazaux S, Minoux M, Jung S, Obry F, Vogt V, Davideau JL, Davit-Beal T, Kaiser AS, Moog U, Richard B, Morrier JJ, Duprez JP, Odent S, Bailleul-Forestier I, Rousset MM, Merametdijan L, Toutain A, Joseph C, Giuliano F, Dahlet JC, Courval A, El Alloussi M, Laouina S, Soskin S, Guffon N, Dieux A, Doray B, Feierabend S, Ginglinger E, Fournier B, de la Dure Molla M, Alembik Y, Tardieu C, Clauss F, Berdal A, Stoetzel C, Manière MC, Dollfus H, Bloch-Zupan A.

J Med Genet. 2016 Feb;53(2):98-110. doi: 10.1136/jmedgenet-2015-103302.

6.

Perinatal Autopsy Findings in a Case of De Novo Hypohidrotic Ectodermal Dysplasia.

Chikkannaiah P, Nagaraju S, Kangle R, Gosavi M.

J Lab Physicians. 2015 Jul-Dec;7(2):131-3. doi: 10.4103/0974-2727.163139.

7.

SNP Discovery from Transcriptome of Cashmere Goat Skin.

Wang L, Zhang Y, Zhao M, Wang R, Su R, Li J.

Asian-Australas J Anim Sci. 2015 Sep;28(9):1235-43. doi: 10.5713/ajas.15.0172.

8.

Molecular basis of hypohidrotic ectodermal dysplasia: an update.

Trzeciak WH, Koczorowski R.

J Appl Genet. 2016 Feb;57(1):51-61. doi: 10.1007/s13353-015-0307-4. Review.

9.

A genome-wide association study identifies multiple loci for variation in human ear morphology.

Adhikari K, Reales G, Smith AJ, Konka E, Palmen J, Quinto-Sanchez M, Acuña-Alonzo V, Jaramillo C, Arias W, Fuentes M, Pizarro M, Barquera Lozano R, Macín Pérez G, Gómez-Valdés J, Villamil-Ramírez H, Hunemeier T, Ramallo V, Silva de Cerqueira CC, Hurtado M, Villegas V, Granja V, Gallo C, Poletti G, Schuler-Faccini L, Salzano FM, Bortolini MC, Canizales-Quinteros S, Rothhammer F, Bedoya G, Calderón R, Rosique J, Cheeseman M, Bhutta MF, Humphries SE, Gonzalez-José R, Headon D, Balding D, Ruiz-Linares A.

Nat Commun. 2015 Jun 24;6:7500. doi: 10.1038/ncomms8500.

10.

Evolutionary genetics as a tool to target genes involved in phenotypes of medical relevance.

Heyer E, Quintana-Murci L.

Evol Appl. 2009 Feb;2(1):71-80. doi: 10.1111/j.1752-4571.2008.00061.x.

11.

Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.

Courcet JB, Elalaoui SC, Duplomb L, Tajir M, Rivière JB, Thevenon J, Gigot N, Marle N, Aral B, Duffourd Y, Sarasin A, Naim V, Courcet-Degrolard E, Aubriot-Lorton MH, Martin L, Abrid JE, Thauvin C, Sefiani A, Vabres P, Faivre L.

Eur J Hum Genet. 2015 Jul;23(7):957-62. doi: 10.1038/ejhg.2014.213.

12.

Pharmacological stimulation of Edar signaling in the adult enhances sebaceous gland size and function.

Kowalczyk-Quintas C, Schuepbach-Mallepell S, Willen L, Smith TK, Huttner K, Kirby N, Headon DJ, Schneider P.

J Invest Dermatol. 2015 Feb;135(2):359-68. doi: 10.1038/jid.2014.382.

13.

EDAR-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C > T mutation.

Kieri CF, Bergendal B, Lind LK, Schmitt-Egenolf M, Stecksén-Blicks C.

BMC Med Genet. 2014 May 16;15:57. doi: 10.1186/1471-2350-15-57.

14.

Sweat gland progenitors in development, homeostasis, and wound repair.

Lu C, Fuchs E.

Cold Spring Harb Perspect Med. 2014 Feb 1;4(2). pii: a015222. doi: 10.1101/cshperspect.a015222. Review.

15.

To grow or not to grow: hair morphogenesis and human genetic hair disorders.

Duverger O, Morasso MI.

Semin Cell Dev Biol. 2014 Jan-Feb;25-26:22-33. doi: 10.1016/j.semcdb.2013.12.006. Review.

16.

To the Root of the Curl: A Signature of a Recent Selective Sweep Identifies a Mutation That Defines the Cornish Rex Cat Breed.

Gandolfi B, Alhaddad H, Affolter VK, Brockman J, Haggstrom J, Joslin SE, Koehne AL, Mullikin JC, Outerbridge CA, Warren WC, Lyons LA.

PLoS One. 2013 Jun 27;8(6):e67105. doi: 10.1371/journal.pone.0067105.

17.

Mammary gland development.

Macias H, Hinck L.

Wiley Interdiscip Rev Dev Biol. 2012 Jul-Aug;1(4):533-57. Review.

19.

The role of TRADD in death receptor signaling.

Pobezinskaya YL, Liu Z.

Cell Cycle. 2012 Mar 1;11(5):871-6. doi: 10.4161/cc.11.5.19300. Review.

20.

A rat model of hypohidrotic ectodermal dysplasia carries a missense mutation in the Edaradd gene.

Kuramoto T, Yokoe M, Hashimoto R, Hiai H, Serikawa T.

BMC Genet. 2011 Oct 21;12:91. doi: 10.1186/1471-2156-12-91.

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