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Items: 1 to 20 of 135

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 14;90(4):339-46. Review.

PMID:
10710235
2.

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.

PMID:
11907515
3.

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 Sep-Oct;80(1-2):227-33.

PMID:
14567972
4.

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.

PMID:
10391218
5.

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 14;90(4):328-35.

PMID:
10710233
6.

The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase.

Liu XY, Dangel AW, Kelley RI, Zhao W, Denny P, Botcherby M, Cattanach B, Peters J, Hunsicker PR, Mallon AM, Strivens MA, Bate R, Miller W, Rhodes M, Brown SD, Herman GE.

Nat Genet. 1999 Jun;22(2):182-7.

PMID:
10369263
7.

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.

PMID:
10391219
8.

Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene.

Hummel M, Cunningham D, Mullett CJ, Kelley RI, Herman GE.

Am J Med Genet A. 2003 Oct 15;122A(3):246-51.

PMID:
12966526
9.

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.

PMID:
18825599
11.

Expression profile of NSDHL in human peripheral tissues.

Morimoto M, Souich Cd, Trinh J, McLarren KW, Boerkoel CF, Hendson G.

J Mol Histol. 2012 Feb;43(1):95-106. doi: 10.1007/s10735-011-9375-x. Epub 2011 Nov 24.

PMID:
22113624
13.

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.

PMID:
15639195
14.

Changes in gene expression associated with loss of function of the NSDHL sterol dehydrogenase in mouse embryonic fibroblasts.

Cunningham D, Swartzlander D, Liyanarachchi S, Davuluri RV, Herman GE.

J Lipid Res. 2005 Jun;46(6):1150-62. Epub 2005 Apr 1.

15.

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. Epub 2002 Oct 24.

PMID:
12483303
16.

Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.

Ikegawa S, Ohashi H, Ogata T, Honda A, Tsukahara M, Kubo T, Kimizuka M, Shimode M, Hasegawa T, Nishimura G, Nakamura Y.

Am J Med Genet. 2000 Oct 2;94(4):300-5. Review.

PMID:
11038443
17.

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. doi: 10.1002/ajmg.a.36999. Epub 2015 Apr 21.

PMID:
25900314
18.

A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.

Furtado LV, Bayrak-Toydemir P, Hulinsky B, Damjanovich K, Carey JC, Rope AF.

Am J Med Genet A. 2010 Nov;152A(11):2838-44. doi: 10.1002/ajmg.a.33674.

PMID:
20949533
19.

Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).

Herman GE, Kelley RI, Pureza V, Smith D, Kopacz K, Pitt J, Sutphen R, Sheffield LJ, Metzenberg AB.

Genet Med. 2002 Nov-Dec;4(6):434-8.

PMID:
12509714
20.
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