144 related articles for article (PubMed ID: 26075358)
1. Keratotic follicular plugs with calcifications in Conradi-Hünermann-Happle syndrome: histological, biochemical and genetic testing correlation.
Leclerc-Mercier S; Dufernez F; Fraitag S; Coulombe J; Dompmartin A; Barreau M; Bozon D; Lamazière A; Bonnefont JP; Khalifa E; Bodemer C; Hadj-Rabia S
Br J Dermatol; 2015 Nov; 173(5):1316-8. PubMed ID: 26075358
[No Abstract] [Full Text] [Related]
2. Ichthyosis and keratotic follicular plugs containing dystrophic calcification in newborns: distinctive histopathologic features of x-linked dominant chondrodysplasia punctata (Conradi-Hünermann-Happle syndrome).
Hoang MP; Carder KR; Pandya AG; Bennett MJ
Am J Dermatopathol; 2004 Feb; 26(1):53-8. PubMed ID: 14726822
[TBL] [Abstract][Full Text] [Related]
3. Conradi-Hünermann-Happle syndrome: a novel heterozygous missense mutation, c.204G>T (p.W68C).
Lambrecht C; Wouters C; Van Esch H; Moens P; Casteels I; Morren MA
Pediatr Dermatol; 2014; 31(4):493-6. PubMed ID: 24915996
[TBL] [Abstract][Full Text] [Related]
4. Gas chromatography-mass spectrometry and molecular genetic studies in families with the Conradi-Hünermann-Happle syndrome.
Has C; Seedorf U; Kannenberg F; Bruckner-Tuderman L; Folkers E; Fölster-Holst R; Baric I; Traupe H
J Invest Dermatol; 2002 May; 118(5):851-8. PubMed ID: 11982764
[TBL] [Abstract][Full Text] [Related]
5. Conradi-Hünermann-Happle syndrome: report of a novel heterozygous mutation on the emopamil-binding protein gene, c.333delC.
Batista M; Morgado F; Cardoso JC; Moreno A; Ramos L
Dermatol Online J; 2020 Oct; 26(10):. PubMed ID: 33147667
[TBL] [Abstract][Full Text] [Related]
6. Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis.
Kolb-Mäurer A; Grzeschik KH; Haas D; Bröcker EB; Hamm H
Acta Derm Venereol; 2008; 88(1):47-51. PubMed ID: 18176751
[TBL] [Abstract][Full Text] [Related]
7. Case of Conradi-Hünermann-Happle syndrome due to a nonsense mutation of c.245G>A (p.W82*).
Satake M; Kudo K; Sasaki T; Furue M; Kubo A
J Dermatol; 2019 Aug; 46(8):e296-e298. PubMed ID: 30809841
[No Abstract] [Full Text] [Related]
8. [Conradi-Hünermann-Happle syndrome with unilateral distribution].
Hello M; David A; Barbarot S
Ann Dermatol Venereol; 2010 Jan; 137(1):44-7. PubMed ID: 20110068
[TBL] [Abstract][Full Text] [Related]
9. Evidence of postzygotic mosaicism in a transmitted form of Conradi-Hunermann-Happle syndrome associated with a novel EBP mutation.
Morice-Picard F; Kostrzewa E; Wolf C; Benlian P; Taïeb A; Lacombe D
Arch Dermatol; 2011 Sep; 147(9):1073-6. PubMed ID: 21931045
[TBL] [Abstract][Full Text] [Related]
10. High 8-dehydrocholesterol level in a typical case of Conradi-Hunermann-Happle syndrome with a novel H76Y missense mutation.
Umekoji A; Fukai K; Kasama T; Yokoi T; Saito M; Tsuruhara A; Ishii M
J Dermatol Sci; 2008 Jul; 51(1):62-5. PubMed ID: 18387283
[No Abstract] [Full Text] [Related]
11. Hypomorphic alleles within the EBP gene cause a phenotype quite different from Conradi-Hünermann-Happle syndrome.
Ikegawa S
Am J Med Genet A; 2004 Sep; 130A(1):106. PubMed ID: 15368506
[No Abstract] [Full Text] [Related]
12. Two novel EBP mutations in Conradi-Hünermann-Happle syndrome.
Ausavarat S; Tanpaiboon P; Tongkobpetch S; Suphapeetiporn K; Shotelersuk V
Eur J Dermatol; 2008; 18(4):391-3. PubMed ID: 18573709
[TBL] [Abstract][Full Text] [Related]
13. A case of Conradi-Hünermann-Happle syndrome with typical clinical manifestations confirmed by genetic mutation analysis.
Hong JK; Han HS; Seo SJ; Kim SY; Park KY
Indian J Dermatol Venereol Leprol; 2021; 87(6):892. PubMed ID: 34491676
[No Abstract] [Full Text] [Related]
14. Novel EBP gene mutations in Conradi-Hünermann-Happle syndrome.
Steijlen PM; van Geel M; Vreeburg M; Marcus-Soekarman D; Spaapen LJ; Castelijns FC; Willemsen M; van Steensel MA
Br J Dermatol; 2007 Dec; 157(6):1225-9. PubMed ID: 17949453
[TBL] [Abstract][Full Text] [Related]
15. Two novel frameshift mutations of the EBP gene in two unrelated Thai girls with Conradi-Hünermann-Happle syndrome.
Shotelersuk V; Tongkobpetch S
Clin Exp Dermatol; 2005 Jul; 30(4):419-21. PubMed ID: 15953085
[TBL] [Abstract][Full Text] [Related]
16. The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hünermann-Happle syndrome.
Cañueto J; Girós M; González-Sarmiento R
Biochim Biophys Acta; 2014 Mar; 1841(3):336-44. PubMed ID: 24036494
[TBL] [Abstract][Full Text] [Related]
17. The Conradi-Hünermann-Happle syndrome is caused by mutations in the gene that encodes a 8- 7 sterol isomerase and is biochemically related to the CHILD syndrome.
Traupe H; Has C
Eur J Dermatol; 2000 Aug; 10(6):425-8. PubMed ID: 10980461
[TBL] [Abstract][Full Text] [Related]
18. Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.
Cañueto J; Girós M; Ciria S; Pi-Castán G; Artigas M; García-Dorado J; García-Patos V; Virós A; Vendrell T; Torrelo A; Hernández-Martín A; Martín-Hernández E; Garcia-Silva MT; Fernández-Burriel M; Rosell J; Tejedor M; Martínez F; Valero J; García JL; Sánchez-Tapia EM; Unamuno P; González-Sarmiento R
Br J Dermatol; 2012 Apr; 166(4):830-8. PubMed ID: 22121851
[TBL] [Abstract][Full Text] [Related]
19. Sterol profiles are valuable biomarkers for phenotype expression of Conradi-Hünermann-Happle syndrome with EBP mutations.
Takeichi T; Honda A; Okuno Y; Kojima D; Kono M; Nakamura Y; Tohyama M; Tanaka T; Aoyama Y; Akiyama M
Br J Dermatol; 2018 Nov; 179(5):1186-1188. PubMed ID: 29851033
[No Abstract] [Full Text] [Related]
20. A severely affected female infant with x-linked dominant chondrodysplasia punctata: a case report and a brief review of the literature.
Rakheja D; Read CP; Hull D; Boriack RL; Timmons CF
Pediatr Dev Pathol; 2007; 10(2):142-8. PubMed ID: 17378690
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
