-
1
-
-
35348987509
-
Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: The odonto-onycho-dermal dysplasia
-
DOI 10.1086/520064
-
Adaimy L, Chouery E, Megarbane H et al (2007) Variant in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia. Am J Hum Genet 81:821-828 (Pubitemid 47596549)
-
(2007)
American Journal of Human Genetics
, vol.81
, Issue.4
, 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
-
2
-
-
79959505447
-
Isolated oligodontia associated with variants in EDARADD, AXIN2, MSX1, and PAX9 genes
-
21626677 10.1002/ajmg.a.34045
-
Bergendal B, Klar J, Stecksén-Blicks C, Norderyd J, Dahl N (2011) Isolated oligodontia associated with variants in EDARADD, AXIN2, MSX1, and PAX9 genes. Am J Med Genet A 155A:1616-1622
-
(2011)
Am J Med Genet A
, vol.155
, pp. 1616-1622
-
-
Bergendal, B.1
Klar, J.2
Stecksén-Blicks, C.3
Norderyd, J.4
Dahl, N.5
-
3
-
-
67649880580
-
WNT10A variants are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes
-
1:CAS:528:DC%2BD1MXhtVeltL7O 2706962 19559398 10.1016/j.ajhg.2009.06.001
-
Bohring A, Stamm T, Spaich C et al (2009) WNT10A variants 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
-
4
-
-
78649987736
-
Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum
-
1:CAS:528:DC%2BC3MXhsVCmt7k%3D 21143469 10.1111/j.1399-0004.2010.01513.x
-
Castori M, Castiglia D, Brancati F et al (2011) Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum. Clin Genet 79:92-95
-
(2011)
Clin Genet
, vol.79
, pp. 92-95
-
-
Castori, M.1
Castiglia, D.2
Brancati, F.3
-
5
-
-
78650427945
-
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases
-
1:CAS:528:DC%2BC3MXhvVektr8%3D 20979233 10.1002/humu.21384
-
Cluzeau C, Hadj-Rabia S, Jambou M et al (2011) Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat 32:70-77
-
(2011)
Hum Mutat
, vol.32
, pp. 70-77
-
-
Cluzeau, C.1
Hadj-Rabia, S.2
Jambou, M.3
-
6
-
-
0017932632
-
Congenital absence of teeth: A review with emphasis on inheritance patterns
-
1:STN:280:DyaE1c7htVSgsw%3D%3D 342579
-
Graber LW (1978) Congenital absence of teeth: a review with emphasis on inheritance patterns. J Am Dent Assoc 96:266-275
-
(1978)
J Am Dent Assoc
, vol.96
, pp. 266-275
-
-
Graber, L.W.1
-
7
-
-
2342613578
-
Mutations in AXIN2 Cause Familial Tooth Agenesis and Predispose to Colorectal Cancer
-
DOI 10.1086/386293
-
Lammi L, Arte S, Somer M et al (2004) Variants in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. Am J Hum Genet 74:1043-1050 (Pubitemid 38568974)
-
(2004)
American Journal of Human Genetics
, vol.74
, Issue.5
, pp. 1043-1050
-
-
Lammi, L.1
Arte, S.2
Somer, M.3
Jarvinen, H.4
Lahermo, P.5
Thesleff, I.6
Pirinen, S.7
Nieminen, P.8
-
8
-
-
84885870052
-
Nucleotide variants of genes encoding components of the Wnt signalling pathway and the risk of non-syndromic tooth agenesis
-
10.1111/cge.12061 23167694 (Epub ahead of print)
-
Mostowska A, Biedziak B, Zadurska M, Dunin-Wilczynska I, Lianeri M, Jagodzinski P (2012) Nucleotide variants of genes encoding components of the Wnt signalling pathway and the risk of non-syndromic tooth agenesis. Clin Genet. doi: 10.1111/cge.12061 (Epub ahead of print)
-
(2012)
Clin Genet.
-
-
Mostowska, A.1
Biedziak, B.2
Zadurska, M.3
Dunin-Wilczynska, I.4
Lianeri, M.5
Jagodzinski, P.6
-
9
-
-
77953132557
-
Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense variant in WNT10A
-
1:CAS:528:DC%2BC3cXmvVSrsLw%3D 20418069 10.1016/j.jdermsci.2010.03.012
-
Nagy N, Wedgeworth E, Hamada T, White JM, Hashimoto T, McGrath JA (2010) Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense variant in WNT10A. J Dermatol Sci 58:220-222
-
(2010)
J Dermatol Sci
, vol.58
, pp. 220-222
-
-
Nagy, N.1
Wedgeworth, E.2
Hamada, T.3
White, J.M.4
Hashimoto, T.5
McGrath, J.A.6
-
10
-
-
70450233732
-
WNT10A missense variant associated with a complete odonto-onycho-dermal dysplasia syndrome
-
1:CAS:528:DC%2BD1MXhsVensbjE 19471313 10.1038/ejhg.2009.81
-
Nawaz S, Klar J, Wajid M et al (2009) WNT10A missense variant 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
-
-
Nawaz, S.1
Klar, J.2
Wajid, M.3
-
11
-
-
2942705963
-
A meta-analysis of the prevalence of dental agenesis of permanent teeth
-
DOI 10.1111/j.1600-0528.2004.00158.x
-
Polder BJ, Van't Hof MA, Van der Linden FP, Kuijpers-Jagtman AM (2004) A meta-analysis of the prevalence of dental agenesis of permanent teeth. Community Dent Oral Epidemiol 32:217-226 (Pubitemid 41725355)
-
(2004)
Community Dentistry and Oral Epidemiology
, vol.32
, Issue.3
, pp. 217-226
-
-
Polder, B.J.1
Van't Hof, M.A.2
Van Der Linden, F.P.G.M.3
Kuijpers-Jagtman, A.M.4
-
12
-
-
0039738462
-
Oligodontia in Danish schoolchildren
-
DOI 10.1080/000163501750157298
-
Rølling S, Poulsen S (2001) Oligodontia in Danish schoolchildren. Acta Odontol Scand 59:111-112 (Pubitemid 33611377)
-
(2001)
Acta Odontologica Scandinavica
, vol.59
, Issue.2
, pp. 111-112
-
-
Rolling, S.1
Poulsen, S.2
-
13
-
-
0020519115
-
The facial profile in advanced hypodontia: A mixed longitudinal study of 141 children
-
Sarnas KV, Rune B (1983) The facial profile in advanced hypodontia: a mixed longitudinal study of 141 children. Eur J Orthod 5:133-143 (Pubitemid 13102780)
-
(1983)
European Journal of Orthodontics
, vol.5
, Issue.2
, pp. 133-143
-
-
Sarnas, K.V.1
Rune, B.2
-
14
-
-
34547647468
-
Assessing quality and functionality of DNA from fresh and archival dried blood spots and recommendations for quality control guidelines
-
DOI 10.1373/clinchem.2007.087510
-
Sjöholm MI, Dillner J, Carlson J (2007) Assessing quality and functionality of DNA from fresh and archival dried blood spots and recommendations for quality control guidelines. Clin Chem 53:1401-1407 (Pubitemid 47206336)
-
(2007)
Clinical Chemistry
, vol.53
, Issue.8
, pp. 1401-1407
-
-
Sjoholm, M.I.L.1
Dillner, J.2
Carlson, J.3
-
15
-
-
62649120465
-
EDA gene variants underlie non-syndromic oligodontia
-
1:CAS:528:DC%2BD1MXkt12ltrw%3D 19278982 10.1177/0022034508328627
-
Song S, Han D, Qu H et al (2009) EDA gene variants underlie non-syndromic oligodontia. J Dent Res 88:126-131
-
(2009)
J Dent Res
, vol.88
, pp. 126-131
-
-
Song, S.1
Han, D.2
Qu, H.3
-
16
-
-
0033986083
-
Mutation of PAX9 is associated with oligodontia
-
DOI 10.1038/71634
-
Stockton DW, Das P, Goldenberg M, D'Souza RN, Patel PI (2000) Variant of PAX9 is associated with oligodontia. Nat Genet 24:18-19 (Pubitemid 30041414)
-
(2000)
Nature Genetics
, vol.24
, Issue.1
, pp. 18-19
-
-
Stockton, D.W.1
Das, P.2
Goldenberg, M.3
D'Souza, R.N.4
Patel, P.I.5
-
17
-
-
0025572715
-
Agenesis of the second premolar in males and females: Distribution, number and sites affected
-
1:STN:280:DyaK3M3nsVahsQ%3D%3D 2098084
-
Stritzel F, Symons AL, Gage JP (1990) Agenesis of the second premolar in males and females: distribution, number and sites affected. J Clin Pediatr Dent 15:39-41
-
(1990)
J Clin Pediatr Dent
, vol.15
, pp. 39-41
-
-
Stritzel, F.1
Symons, A.L.2
Gage, J.P.3
-
18
-
-
0027865406
-
Anomalies associated with hypodontia of the permanent lateral incisor and second premolar
-
1:STN:280:DyaK3s3it1Snug%3D%3D 8466838
-
Symons AL, Stritzel F, Stamatiou J (1993) Anomalies associated with hypodontia of the permanent lateral incisor and second premolar. J Clin Pediatr Dent 17:109-111
-
(1993)
J Clin Pediatr Dent
, vol.17
, pp. 109-111
-
-
Symons, A.L.1
Stritzel, F.2
Stamatiou, J.3
-
19
-
-
84864094899
-
Mutations in WNT10A are present in more than half of isolated hypodontia cases
-
22581971 10.1136/jmedgenet-2012-100750
-
van den Boogaard MJ, Créton M, Bronkhorst Y et al (2012) Mutations in WNT10A are present in more than half of isolated hypodontia cases. J Med Genet 49:327-331
-
(2012)
J Med Genet
, vol.49
, pp. 327-331
-
-
Van Den Boogaard, M.J.1
Créton, M.2
Bronkhorst, Y.3
-
20
-
-
77952713260
-
Phenotypic variability associated with WNT10A nonsense variants
-
20163410 10.1111/j.1365-2133.2010.09703.x
-
Van Geel M, Gattas M, Kesler Y et al (2010) Phenotypic variability associated with WNT10A nonsense variants. Br J Dermatol 162:1403-1406
-
(2010)
Br J Dermatol
, vol.162
, pp. 1403-1406
-
-
Van Geel, M.1
Gattas, M.2
Kesler, Y.3
-
21
-
-
0034199841
-
The genetics of human tooth agenesis: New discoveries for understanding dental anomalies
-
1:STN:280:DC%2BD3czgt1Cksw%3D%3D 10842107
-
Vastardis H (2000) The genetics of human tooth agenesis: new discoveries for understanding dental anomalies. Am J Orthod Dentofacial Orthop 117:650-656
-
(2000)
Am J Orthod Dentofacial Orthop
, vol.117
, pp. 650-656
-
-
Vastardis, H.1
-
22
-
-
0030017452
-
A human MSX1 homeodomain missense mutation causes selective tooth agenesis
-
DOI 10.1038/ng0896-417
-
Vastardis H, Karimbux N, Guthua SW, Seidman JG, Seidman CE (1996) A human MSX1 homeodomain missense variant causes selective tooth agenesis. Nat Genet 13:417-421 (Pubitemid 26256614)
-
(1996)
Nature Genetics
, vol.13
, Issue.4
, pp. 417-421
-
-
Vastardis, H.1
Karimbux, N.2
Guthua, S.W.3
Seidman, J.G.4
Seidman, C.E.5
-
23
-
-
79955719427
-
Intra-familial variability of ectodermal defects associated with WNT10A variants
-
1:CAS:528:DC%2BC3MXhsVyqtbvL 21279306 10.2340/00015555-1028
-
Wedgeworth EK, Nagy N, White JM, Pembroke AC, McGrath JA (2011) Intra-familial variability of ectodermal defects associated with WNT10A variants. Acta Derm Venereol 91:346-347
-
(2011)
Acta Derm Venereol
, vol.91
, pp. 346-347
-
-
Wedgeworth, E.K.1
Nagy, N.2
White, J.M.3
Pembroke, A.C.4
McGrath, J.A.5
-
24
-
-
0015060149
-
Missing maxillary lateral incisors: A genetic study
-
1:STN:280:DyaE3M3ivFKnsw%3D%3D 1706719 5089845
-
Woolf CM (1971) Missing maxillary lateral incisors: a genetic study. Am J Hum Genet 23:289-296
-
(1971)
Am J Hum Genet
, vol.23
, pp. 289-296
-
-
Woolf, C.M.1
|