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Items: 1 to 20 of 107

1.

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. No abstract available.

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.

Left-sided CHILD syndrome caused by a nonsense mutation in exon 7 of the NSDHL gene.

Danarti R, Grzeschik KH, Radiono S, König A, Happle R.

Eur J Dermatol. 2010 Sep-Oct;20(5):634-5. doi: 10.1684/ejd.2010.0995. Epub 2010 Jul 7. No abstract available.

PMID:
20605772
4.

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. doi: 10.1111/j.1468-3083.2009.03483.x. Epub 2009 Nov 2.

PMID:
19906044
5.

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
6.

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.

PMID:
16088165
7.

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
8.

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
9.

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.

PMID:
16549711
10.

CHILD syndrome with mild skin lesions: histopathologic clues for the diagnosis.

Gantner S, Rütten A, Requena L, Gassenmaier G, Landthaler M, Hafner C.

J Cutan Pathol. 2014 Oct;41(10):787-90. doi: 10.1111/cup.12377. Epub 2014 Oct 18.

PMID:
25093865
11.

A unique point mutation in the NSDHL gene in a Japanese patient with CHILD syndrome.

Murata K, Shinkai H, Ishikiriyama S, Yamazaki M, Fukuzumi Y, Hatamochi A.

J Dermatol Sci. 2003 Oct;33(1):67-9. No abstract available.

PMID:
14527740
12.

A novel silent mutation in the NSDHL gene causing CHILD syndrome as a result of aberrant splicing.

Saito M, Ishiko A.

Br J Dermatol. 2008 Nov;159(5):1204-6. doi: 10.1111/j.1365-2133.2008.08800.x. Epub 2008 Sep 1. No abstract available.

PMID:
18764845
13.

Large deletions in the NSDHL gene in two patients with CHILD syndrome.

Yang Z, Hartmann B, Xu Z, Ma L, Happle R, Schlipf N, Zhang LX, Xu ZG, Wang ZY, Fischer J.

Acta Derm Venereol. 2015 Nov;95(8):1007-8. doi: 10.2340/00015555-2143. No abstract available.

14.

CHILD syndrome: effective treatment of ichthyosiform naevus with oral and topical ketoconazole.

Liu T, Qian G, Wang XX, Zhang YG.

Acta Derm Venereol. 2015 Jan;95(1):91-2. doi: 10.2340/00015555-1859. No abstract available.

15.

CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation.

Mi XB, Luo MX, Guo LL, Zhang TD, Qiu XW.

Pediatr Dermatol. 2015 Nov-Dec;32(6):e277-82. doi: 10.1111/pde.12701. Epub 2015 Oct 13. Review.

PMID:
26459993
16.

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.

PMID:
16230564
17.

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
18.

SHOX point mutations in dyschondrosteosis.

Huber C, Cusin V, Le Merrer M, Mathieu M, Sulmont V, Dagoneau N, Munnich A, Cormier-Daire V.

J Med Genet. 2001 May;38(5):323. No abstract available.

19.
20.

Localization of mammalian NAD(P)H steroid dehydrogenase-like protein on lipid droplets.

Ohashi M, Mizushima N, Kabeya Y, Yoshimori T.

J Biol Chem. 2003 Sep 19;278(38):36819-29. Epub 2003 Jul 1.

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