172 related articles for article (PubMed ID: 24884697)
1. 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; 15():57. PubMed ID: 24884697
[TBL] [Abstract][Full Text] [Related]
2. [Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia].
Callea M; Cammarata-Scalisi F; Willoughby CE; Giglio SR; Sani I; Bargiacchi S; Traficante G; Bellacchio E; Tadini G; Yavuz I; Galeotti A; Clarich G
Arch Argent Pediatr; 2017 Feb; 115(1):e34-e38. PubMed ID: 28097853
[TBL] [Abstract][Full Text] [Related]
3. Hair shaft structures in EDAR induced ectodermal dysplasia.
Stecksén-Blicks C; Falk Kieri C; Hägg D; Schmitt-Egenolf M
BMC Med Genet; 2015 Sep; 16():79. PubMed ID: 26336973
[TBL] [Abstract][Full Text] [Related]
4. A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families.
Sadia ; Foo JN; Khor CC; Jelani M; Ali G
J Gene Med; 2019 Sep; 21(9):e3113. PubMed ID: 31310406
[TBL] [Abstract][Full Text] [Related]
5. EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population.
Martínez-Romero MC; Ballesta-Martínez MJ; López-González V; Sánchez-Soler MJ; Serrano-Antón AT; Barreda-Sánchez M; Rodriguez-Peña L; Martínez-Menchon MT; Frías-Iniesta J; Sánchez-Pedreño P; Carbonell-Meseguer P; Glover-López G; Guillén-Navarro E;
Orphanet J Rare Dis; 2019 Dec; 14(1):281. PubMed ID: 31796081
[TBL] [Abstract][Full Text] [Related]
6. X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings.
Clauss F; Chassaing N; Smahi A; Vincent MC; Calvas P; Molla M; Lesot H; Alembik Y; Hadj-Rabia S; Bodemer C; Manière MC; Schmittbuhl M
Clin Genet; 2010 Sep; 78(3):257-66. PubMed ID: 20236127
[TBL] [Abstract][Full Text] [Related]
7. Comparative analysis of rare EDAR mutations and tooth agenesis pattern in EDAR- and EDA-associated nonsyndromic oligodontia.
Zhang L; Yu M; Wong SW; Qu H; Cai T; Liu Y; Liu H; Fan Z; Zheng J; Zhou Y; Feng H; Han D
Hum Mutat; 2020 Nov; 41(11):1957-1966. PubMed ID: 32906216
[TBL] [Abstract][Full Text] [Related]
8. Deleterious Variants in
Parveen A; Khan SA; Mirza MU; Bashir H; Arshad F; Iqbal M; Ahmad W; Wahab A; Fiaz A; Naz S; Ashraf F; Mobeen T; Aziz S; Ahmed SS; Muhammad N; Hassib NF; Mostafa MI; Gaboon NE; Gul R; Khan S; Froeyen M; Shoaib M; Wasif N
Int J Mol Sci; 2019 Oct; 20(21):. PubMed ID: 31652981
[TBL] [Abstract][Full Text] [Related]
9. Mutational spectrum of EDA and EDAR genes in a cohort of Mexican mestizo patients with hypohidrotic ectodermal dysplasia.
Monroy-Jaramillo N; Abad-Flores JD; García-Delgado C; Villaseñor-Domínguez A; Mena-Cedillos C; Toledo-Bahena ME; Valencia-Herrera AM; Sánchez-Boiso A; Akaki-Carreño YI; Del Río Navarro B; Aguirre-Hernández J; López-López M; Cervantes A; Cerbón M; Morán-Barroso VF
J Eur Acad Dermatol Venereol; 2017 Jul; 31(7):e321-e324. PubMed ID: 28045201
[No Abstract] [Full Text] [Related]
10. EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families.
Lind LK; Stecksén-Blicks C; Lejon K; Schmitt-Egenolf M
BMC Med Genet; 2006 Nov; 7():80. PubMed ID: 17125505
[TBL] [Abstract][Full Text] [Related]
11. A missense mutation in the death domain of EDAR abolishes the interaction with EDARADD and underlies hypohidrotic ectodermal dysplasia.
Masui Y; Farooq M; Sato N; Fujimoto A; Fujikawa H; Ito M; Shimomura Y
Dermatology; 2011; 223(1):74-9. PubMed ID: 21876339
[TBL] [Abstract][Full Text] [Related]
12. Gene Mutations of the Three Ectodysplasin Pathway Key Players (
Ahmed HA; El-Kamah GY; Rabie E; Mostafa MI; Abouzaid MR; Hassib NF; Mehrez MI; Abdel-Kader MA; Mohsen YH; Zada SK; Amr KS; Sayed ISM
Genes (Basel); 2021 Sep; 12(9):. PubMed ID: 34573371
[TBL] [Abstract][Full Text] [Related]
13. Functional studies for a dominant mutation in the EDAR gene responsible for hypohidrotic ectodermal dysplasia.
Okita T; Asano N; Yasuno S; Shimomura Y
J Dermatol; 2019 Aug; 46(8):710-715. PubMed ID: 31245878
[TBL] [Abstract][Full Text] [Related]
14. Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia.
Naqvi SK; Wasif N; Javaid H; Ahmad W
Orthod Craniofac Res; 2011 Aug; 14(3):156-9. PubMed ID: 21771270
[TBL] [Abstract][Full Text] [Related]
15. [Detection of
Wu JY; Yu M; Sun SC; Fan ZZ; Zheng JL; Zhang LT; Feng HL; Liu Y; Han D
Beijing Da Xue Xue Bao Yi Xue Ban; 2020 Dec; 53(1):24-33. PubMed ID: 33550332
[TBL] [Abstract][Full Text] [Related]
16. Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.
Bal E; Baala L; Cluzeau C; El Kerch F; Ouldim K; Hadj-Rabia S; Bodemer C; Munnich A; Courtois G; Sefiani A; Smahi A
Hum Mutat; 2007 Jul; 28(7):703-9. PubMed ID: 17354266
[TBL] [Abstract][Full Text] [Related]
17. Different degree of loss-of-function among four missense mutations in the EDAR gene responsible for autosomal recessive hypohidrotic ectodermal dysplasia may be associated with the phenotypic severity.
Yagi S; Yasuno S; Ansai O; Hayashi R; Shimomura Y
J Dermatol; 2023 Mar; 50(3):349-356. PubMed ID: 36258277
[TBL] [Abstract][Full Text] [Related]
18. Oligodontia ectodermal dysplasia--on signs, symptoms, genetics, and outcomes of dental treatment.
Bergendal B
Swed Dent J Suppl; 2010; (205):13-78, 7-8. PubMed ID: 20626136
[TBL] [Abstract][Full Text] [Related]
19. Variants of the ectodysplasin A1 receptor gene underlying homozygous cases of autosomal recessive hypohidrotic ectodermal dysplasia.
Wohlfart S; Schneider H
Clin Genet; 2019 Mar; 95(3):427-432. PubMed ID: 30623979
[TBL] [Abstract][Full Text] [Related]
20. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
Cluzeau C; Hadj-Rabia S; Jambou M; Mansour S; Guigue P; Masmoudi S; Bal E; Chassaing N; Vincent MC; Viot G; Clauss F; Manière 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
Hum Mutat; 2011 Jan; 32(1):70-2. PubMed ID: 20979233
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]