211 related articles for article (PubMed ID: 10710235)
1. Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.
König A; Happle R; Bornholdt D; Engel H; Grzeschik KH
Am J Med Genet; 2000 Feb; 90(4):339-46. PubMed ID: 10710235
[TBL] [Abstract][Full Text] [Related]
2. Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com.
Derry JM; Gormally E; Means GD; Zhao W; Meindl A; Kelley RI; Boyd Y; Herman GE
Nat Genet; 1999 Jul; 22(3):286-90. PubMed ID: 10391218
[TBL] [Abstract][Full Text] [Related]
3. Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome.
Braverman N; Lin P; Moebius FF; Obie C; Moser A; Glossmann H; Wilcox WR; Rimoin DL; Smith M; Kratz L; Kelley RI; Valle D
Nat Genet; 1999 Jul; 22(3):291-4. PubMed ID: 10391219
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H Steroid Dehydrogenase-like (NSDHL) Enzyme.
Caldas H; Cunningham D; Wang X; Jiang F; Humphries L; Kelley RI; Herman GE
Mol Genet Metab; 2005 Jan; 84(1):48-60. PubMed ID: 15639195
[TBL] [Abstract][Full Text] [Related]
6. Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata.
Shirahama S; Miyahara A; Kitoh H; Honda A; Kawase A; Yamada K; Mabuchi A; Kura H; Yokoyama Y; Tsutsumi M; Ikeda T; Tanaka N; Nishimura G; Ohashi H; Ikegawa S
Hum Genet; 2003 Jan; 112(1):78-83. PubMed ID: 12483303
[TBL] [Abstract][Full Text] [Related]
7. A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement.
König A; Happle R; Fink-Puches R; Soyer HP; Bornholdt D; Engel H; Grzeschik KH
J Am Acad Dermatol; 2002 Apr; 46(4):594-6. PubMed ID: 11907515
[TBL] [Abstract][Full Text] [Related]
8. CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene.
Kim CA; Konig A; Bertola DR; Albano LM; Gattás GJ; Bornholdt D; Leveleki L; Happle R; Grzeschik KH
Dermatology; 2005; 211(2):155-8. PubMed ID: 16088165
[TBL] [Abstract][Full Text] [Related]
9. CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase.
Grange DK; Kratz LE; Braverman NE; Kelley RI
Am J Med Genet; 2000 Feb; 90(4):328-35. PubMed ID: 10710233
[TBL] [Abstract][Full Text] [Related]
10. NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets.
Caldas H; Herman GE
Hum Mol Genet; 2003 Nov; 12(22):2981-91. PubMed ID: 14506130
[TBL] [Abstract][Full Text] [Related]
11. CHILD syndrome: the NSDHL gene and its role in CHILD syndrome, a rare hereditary disorder.
Avgerinou GP; Asvesti AP; Katsambas AD; Nikolaou VA; Christofidou EC; Grzeschik KH; Happle R
J Eur Acad Dermatol Venereol; 2010 Jun; 24(6):733-6. PubMed ID: 19906044
[TBL] [Abstract][Full Text] [Related]
12. Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast.
Lucas ME; Ma Q; Cunningham D; Peters J; Cattanach B; Bard M; Elmore BK; Herman GE
Mol Genet Metab; 2003; 80(1-2):227-33. PubMed ID: 14567972
[TBL] [Abstract][Full Text] [Related]
13. Mutational spectrum of NSDHL in CHILD syndrome.
Bornholdt D; König A; Happle R; Leveleki L; Bittar M; Danarti R; Vahlquist A; Tilgen W; Reinhold U; Poiares Baptista A; Grosshans E; Vabres P; Niiyama S; Sasaoka K; Tanaka T; Meiss AL; Treadwell PA; Lambert D; Camacho F; Grzeschik KH
J Med Genet; 2005 Feb; 42(2):e17. PubMed ID: 15689440
[No Abstract] [Full Text] [Related]
14. Cloning of an emopamil-binding protein (EBP)-like protein that lacks sterol delta8-delta7 isomerase activity.
Moebius FF; Fitzky BU; Wietzorrek G; Haidekker A; Eder A; Glossmann H
Biochem J; 2003 Aug; 374(Pt 1):229-37. PubMed ID: 12760743
[TBL] [Abstract][Full Text] [Related]
15. CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions.
Bittar M; Happle R; Grzeschik KH; Leveleki L; Hertl M; Bornholdt D; König A
Arch Dermatol; 2006 Mar; 142(3):348-51. PubMed ID: 16549711
[TBL] [Abstract][Full Text] [Related]
16. Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata.
Hellenbroich Y; Grzeschik KH; Krapp M; Jarutat T; Lehrmann-Petersen C; Buiting K; Gillessen-Kaesbach G
Eur J Med Genet; 2007; 50(5):392-8. PubMed ID: 17625999
[TBL] [Abstract][Full Text] [Related]
17. A novel somatic mutation of the 3beta-hydroxysteroid dehydrogenase gene in sporadic cutaneous verruciform xanthoma.
Mehra S; Li L; Fan CY; Smoller B; Morgan M; Somach S
Arch Dermatol; 2005 Oct; 141(10):1263-7. PubMed ID: 16230564
[TBL] [Abstract][Full Text] [Related]
18. A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.
Preiksaitiene E; Caro A; Benušienė E; Oltra S; Orellana C; Morkūnienė A; Roselló MP; Kasnauskiene J; Monfort S; Kučinskas V; Mayo S; Martinez F
Am J Med Genet A; 2015 Jun; 167(6):1342-8. PubMed ID: 25900314
[TBL] [Abstract][Full Text] [Related]
19. Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome.
Schmidt-Sidor B; Obersztyn E; Szymańska K; Wychowski J; Mierzewska H; Wierzba-Bobrowicz T; Stepień T
Folia Neuropathol; 2008; 46(3):232-7. PubMed ID: 18825599
[TBL] [Abstract][Full Text] [Related]
20. Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report.
Hettiarachchi D; Panchal H; Lai PS; Dissanayake VHW
BMC Med Genet; 2020 Aug; 21(1):164. PubMed ID: 32819291
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]