184 related articles for article (PubMed ID: 28045201)
1. 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]
2. Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia.
Shimomura Y; Wajid M; Weiser J; Kraemer L; Ishii Y; Lombillo V; Bale SJ; Christiano AM
Clin Genet; 2009 Jun; 75(6):582-4. PubMed ID: 19438931
[No Abstract] [Full Text] [Related]
3. Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes.
RamaDevi AR; Reddy EC; Ranjan S; Bashyam MD
Br J Dermatol; 2008 Jan; 158(1):163-7. PubMed ID: 17970812
[No Abstract] [Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. 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]
8. A novel large deletion that encompasses EDA and the downstream gene AWAT2 causes X-linked hypohidrotic/anhidrotic ectodermal dysplasia.
Chaudhary AK; Sankar VH; Bashyam MD
J Dermatol Sci; 2016 Oct; 84(1):105-107. PubMed ID: 27443954
[No Abstract] [Full Text] [Related]
9. 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]
10. Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families.
Güven Y; Bal E; Altunoglu U; Yücel E; Hadj-Rabia S; Koruyucu M; Bahar Tuna E; Çıldır Ş; Aktören O; Bodemer C; Uyguner ZO; Smahi A; Kayserili H
Cytogenet Genome Res; 2019; 157(4):189-196. PubMed ID: 30974434
[TBL] [Abstract][Full Text] [Related]
11. The EDAR370A allele attenuates the severity of hypohidrotic ectodermal dysplasia caused by EDA gene mutation.
Cluzeau C; Hadj-Rabia S; Bal E; Clauss F; Munnich A; Bodemer C; Headon D; Smahi A
Br J Dermatol; 2012 Mar; 166(3):678-81. PubMed ID: 21916884
[No Abstract] [Full Text] [Related]
12. Hypohidrotic ectodermal dysplasia: clinical and molecular review.
Reyes-Reali J; Mendoza-Ramos MI; Garrido-Guerrero E; Méndez-Catalá CF; Méndez-Cruz AR; Pozo-Molina G
Int J Dermatol; 2018 Aug; 57(8):965-972. PubMed ID: 29855039
[TBL] [Abstract][Full Text] [Related]
13. Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants.
Yu K; Huang C; Wan F; Jiang C; Chen J; Li X; Wang F; Wu J; Lei M; Wu Y
Nat Commun; 2023 Feb; 14(1):767. PubMed ID: 36765055
[TBL] [Abstract][Full Text] [Related]
14. De novo EDA mutations: Variable expression in two Egyptian families.
Gaczkowska A; Abdalla EM; Dowidar KM; Elhady GM; Jagodzinski PP; Mostowska A
Arch Oral Biol; 2016 Aug; 68():21-8. PubMed ID: 27054699
[TBL] [Abstract][Full Text] [Related]
15. Ectodysplasin signalling deficiency in mouse models of hypohidrotic ectodermal dysplasia leads to middle ear and nasal pathology.
Azar A; Piccinelli C; Brown H; Headon D; Cheeseman M
Hum Mol Genet; 2016 Aug; 25(16):3564-3577. PubMed ID: 27378689
[TBL] [Abstract][Full Text] [Related]
16. A novel frameshift mutation in the
Rahbaran M; Hassani Doabsari M; Salavitabar S; Mokhberian N; Morovvati Z; Morovvati S
Cell Mol Biol Lett; 2019; 24():54. PubMed ID: 31452656
[TBL] [Abstract][Full Text] [Related]
17. [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]
18. 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]
19. Identification of a novel mutation of the EDA gene in X-linked hypohidrotic ectodermal dysplasia.
Xue JJ; Tan B; Gao QP; Zhu GS; Liang DS; Wu LQ
Genet Mol Res; 2015 Dec; 14(4):15779-82. PubMed ID: 26634545
[TBL] [Abstract][Full Text] [Related]
20. Two EDA gene mutations in chinese patients with hypohidrotic ectodermal dysplasia.
Feng X; Weng C; Wei T; Sun J; Huang F; Yu P; Qi M
J Eur Acad Dermatol Venereol; 2018 Aug; 32(8):e324-e326. PubMed ID: 29444360
[No Abstract] [Full Text] [Related]
[Next] [New Search]
