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1
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35348987509
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Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: The odonto-onycho-dermal dysplasia
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Adaimy L, Chouery E, Megarbane H, Mroueh S, Delague V, Nicolas E, Belguith H, de Mazancourt P, Megarbane A. 2007. Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: The odonto-onycho-dermal dysplasia. Am J Hum Genet 81: 821-828.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 821-828
-
-
Adaimy, L.1
Chouery, E.2
Megarbane, H.3
Mroueh, S.4
Delague, V.5
Nicolas, E.6
Belguith, H.7
de Mazancourt, P.8
Megarbane, A.9
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2
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67649880580
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WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes
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Bohring A, Stamm T, Spaich C, Haase C, Spree K, Hehr U, Hoffmann M, Ledig S, Sel S, Wieacker P, Ropke A. 2009. WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes. Am J Hum Genet 85: 97-105.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 97-105
-
-
Bohring, A.1
Stamm, T.2
Spaich, C.3
Haase, C.4
Spree, K.5
Hehr, U.6
Hoffmann, M.7
Ledig, S.8
Sel, S.9
Wieacker, P.10
Ropke, A.11
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3
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33645225908
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Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia
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Chassaing N, Bourthoumieu S, Cossee M, Calvas P, Vincent MC. 2006. Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. Hum Mutat 27: 255-259.
-
(2006)
Hum Mutat
, vol.27
, pp. 255-259
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-
Chassaing, N.1
Bourthoumieu, S.2
Cossee, M.3
Calvas, P.4
Vincent, M.C.5
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4
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77951219194
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Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases
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Chassaing N, Cluzeau C, Bal E, Guigue P, Vincent MC, Viot G, Ginisty D, Munnich A, Smahi A, Calvas P. 2010. Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases. Br J Dermatol 162: 1044-1048.
-
(2010)
Br J Dermatol
, vol.162
, pp. 1044-1048
-
-
Chassaing, N.1
Cluzeau, C.2
Bal, E.3
Guigue, P.4
Vincent, M.C.5
Viot, G.6
Ginisty, D.7
Munnich, A.8
Smahi, A.9
Calvas, P.10
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5
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77955835996
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X-linked and autosomal recessive hypohidrotic ectodermal dysplasia: Genotypic-dental phenotypic findings
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Clauss F, Chassaing N, Smahi A, Vincent MC, Calvas P, Molla M, Lesot H, Alembik Y, Hadj-Rabia S, Bodemer C, Maniere MC, Schmittbuhl M. 2010. X-linked and autosomal recessive hypohidrotic ectodermal dysplasia: Genotypic-dental phenotypic findings. Clin Genet 78: 257-266.
-
(2010)
Clin Genet
, vol.78
, pp. 257-266
-
-
Clauss, F.1
Chassaing, N.2
Smahi, A.3
Vincent, M.C.4
Calvas, P.5
Molla, M.6
Lesot, H.7
Alembik, Y.8
Hadj-Rabia, S.9
Bodemer, C.10
Maniere, M.C.11
Schmittbuhl, M.12
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6
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78650427945
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Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases
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Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, Bal E, Chassaing N, Vincent MC, Viot G, Clauss F, Maniere MC, Toupenay S, Le Merrer M, Lyonnet S, Cormier-Daire V, Amiel J, Faivre L, de Prost Y, Munnich A, Bonnefont JP, Bodemer C, Smahi A. 2011. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat 32: 70-72.
-
(2011)
Hum Mutat
, vol.32
, pp. 70-72
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-
Cluzeau, C.1
Hadj-Rabia, S.2
Jambou, M.3
Mansour, S.4
Guigue, P.5
Masmoudi, S.6
Bal, E.7
Chassaing, N.8
Vincent, M.C.9
Viot, G.10
Clauss, F.11
Maniere, M.C.12
Toupenay, S.13
Le Merrer, M.14
Lyonnet, S.15
Cormier-Daire, V.16
Amiel, J.17
Faivre, L.18
de Prost, Y.19
Munnich, A.20
Bonnefont, J.P.21
Bodemer, C.22
Smahi, A.23
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8
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70450233732
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WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome
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Nawaz S, Klar J, Wajid M, Aslam M, Tariq M, Schuster J, Baig SM, Dahl N. 2009. WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome. Eur J Hum Genet 17: 1600-1605.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 1600-1605
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Nawaz, S.1
Klar, J.2
Wajid, M.3
Aslam, M.4
Tariq, M.5
Schuster, J.6
Baig, S.M.7
Dahl, N.8
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9
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84864094899
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Mutations in WNT10A are present in more than half of isolated hypodontia cases
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van den Boogaard MJ, Creton M, Bronkhorst Y, van der Hout A, Hennekam E, Lindhout D, Cune M, Ploos van Amstel HK. 2012. Mutations in WNT10A are present in more than half of isolated hypodontia cases. J Med Genet 49: 327-331.
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(2012)
J Med Genet
, vol.49
, pp. 327-331
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van den Boogaard, M.J.1
Creton, M.2
Bronkhorst, Y.3
van der Hout, A.4
Hennekam, E.5
Lindhout, D.6
Cune, M.7
Ploos van Amstel, H.K.8
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10
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44449142932
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Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia
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van der Hout AH, Oudesluijs GG, Venema A, Verheij JB, Mol BG, Rump P, Brunner HG, Vos YJ, van Essen AJ. 2008. Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. Eur J Hum Genet 16: 673-679.
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 673-679
-
-
van der Hout, A.H.1
Oudesluijs, G.G.2
Venema, A.3
Verheij, J.B.4
Mol, B.G.5
Rump, P.6
Brunner, H.G.7
Vos, Y.J.8
van Essen, A.J.9
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12
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67650230898
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Reciprocal requirements for EDA/EDAR/NF-kappaB and Wnt/beta-catenin signaling pathways in hair follicle induction
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Zhang Y, Tomann P, Andl T, Gallant NM, Huelsken J, Jerchow B, Birchmeier W, Paus R, Piccolo S, Mikkola ML, Morrisey EE, Overbeek PA, Scheidereit C, Millar SE, Schmidt-Ullrich R. 2009. Reciprocal requirements for EDA/EDAR/NF-kappaB and Wnt/beta-catenin signaling pathways in hair follicle induction. Dev Cell 17: 49-61.
-
(2009)
Dev Cell
, vol.17
, pp. 49-61
-
-
Zhang, Y.1
Tomann, P.2
Andl, T.3
Gallant, N.M.4
Huelsken, J.5
Jerchow, B.6
Birchmeier, W.7
Paus, R.8
Piccolo, S.9
Mikkola, M.L.10
Morrisey, E.E.11
Overbeek, P.A.12
Scheidereit, C.13
Millar, S.E.14
Schmidt-Ullrich, R.15
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