-
1
-
-
0018851859
-
The CHILD syndrome: Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
-
Happle R, Koch H, Lenz W. The CHILD syndrome: congenital hemidysplasia with ichthyosiform erythroderma and limb defects. Eur J Pediatr. 1980;134:27-33.
-
(1980)
Eur J Pediatr
, vol.134
, pp. 27-33
-
-
Happle, R.1
Koch, H.2
Lenz, W.3
-
2
-
-
0025038684
-
Ptychotropism as a cutaneous feature of the CHILD syndrome
-
Happle R. Ptychotropism as a cutaneous feature of the CHILD syndrome. J Am Acad Dermatol. 1990;23(4 pt 1):763-766.
-
(1990)
J Am Acad Dermatol
, vol.23
, Issue.4 PART 1
, pp. 763-766
-
-
Happle, R.1
-
3
-
-
0033972847
-
Mutations in the NSDHL gene, encoding a 3β-hydroxysteroid dehydrogenase, cause CHILD syndrome
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König A, Happle R, Bornholdt D, Engel H, Grzeschik KH. Mutations in the NSDHL gene, encoding a 3β-hydroxysteroid dehydrogenase, cause CHILD syndrome. Am J Med Genet. 2000;90:339-346.
-
(2000)
Am J Med Genet
, vol.90
, pp. 339-346
-
-
König, A.1
Happle, R.2
Bornholdt, D.3
Engel, H.4
Grzeschik, K.H.5
-
4
-
-
0029161652
-
The CHILD nevus: A distinct skin disorder
-
Happle R, Mittag H, Küster W. The CHILD nevus: a distinct skin disorder. Dermatology. 1995;191:210-216.
-
(1995)
Dermatology
, vol.191
, pp. 210-216
-
-
Happle, R.1
Mittag, H.2
Küster, W.3
-
5
-
-
0027452134
-
Mosaicism in human skin: Understanding the patterns and mechanisms
-
Happle R. Mosaicism in human skin: understanding the patterns and mechanisms. Arch Dermatol. 1993;129:1460-1470.
-
(1993)
Arch Dermatol
, vol.129
, pp. 1460-1470
-
-
Happle, R.1
-
7
-
-
0018776066
-
Inflammatory variable epidermal naevus (atypical I.L.V.E.N.? A new entity?)
-
Baptista AP, Cortesâo JM. Inflammatory variable epidermal naevus (atypical I.L.V.E.N.? a new entity?) [in French]. Ann Dermatol Venereol. 1979;106:443-450.
-
(1979)
Ann Dermatol Venereol
, vol.106
, pp. 443-450
-
-
Baptista, A.P.1
Cortesâo, J.M.2
-
8
-
-
0025034588
-
CHILD syndrome in a mother and daughter
-
Happle R, Karlic D, Steijlen PM. CHILD syndrome in a mother and daughter [in German]. Hautarzt. 1990;41:105-108.
-
(1990)
Hautarzt
, vol.41
, pp. 105-108
-
-
Happle, R.1
Karlic, D.2
Steijlen, P.M.3
-
9
-
-
0024526358
-
CHILD syndrome: A case report for understanding this rare genetic dermatosis
-
Schlenzka K, Gehre M, Neumann HJ, Sochor H. CHILD syndrome: a case report for understanding this rare genetic dermatosis [in German]. Dermatol Monatsschr. 1989;175:100-106.
-
(1989)
Dermatol Monatsschr
, vol.175
, pp. 100-106
-
-
Schlenzka, K.1
Gehre, M.2
Neumann, H.J.3
Sochor, H.4
-
10
-
-
0016829758
-
Congenital unilateral ichthyosiform erythroderma with ipsilateral hypoplasia of upper and lower limbs
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Kontras SB, Kataria AP, Eaton AP, et al. Congenital unilateral ichthyosiform erythroderma with ipsilateral hypoplasia of upper and lower limbs. Birth Defects. 1975;11:333-334.
-
(1975)
Birth Defects
, vol.11
, pp. 333-334
-
-
Kontras, S.B.1
Kataria, A.P.2
Eaton, A.P.3
-
11
-
-
27544434770
-
Mutational spectrum of NSDHL in CHILD syndrome
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Bornholdt D, König A, Happle R, et al. Mutational spectrum of NSDHL in CHILD syndrome. J Med Genet. 2005;42:e17. Available at: http://jmg. bmjjournals.com/cgi/content/full/42/2/e17.
-
(2005)
J Med Genet
, vol.42
-
-
Bornholdt, D.1
König, A.2
Happle, R.3
-
12
-
-
0032406475
-
Genetic mapping of X-linked loci involved in skewing of X chromosome inactivation in the human
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Naumova AK, Olien L, Bird LM, et al. Genetic mapping of X-linked loci involved in skewing of X chromosome inactivation in the human. Eur J Hum Genet. 1998; 6:552-562.
-
(1998)
Eur J Hum Genet
, vol.6
, pp. 552-562
-
-
Naumova, A.K.1
Olien, L.2
Bird, L.M.3
-
13
-
-
0035282880
-
Assessment of mechanism of acquired skewed X inactivation by analysis of twins
-
Vickers MA, McLeod E, Spector TD, Wilson IJ. Assessment of mechanism of acquired skewed X inactivation by analysis of twins. Blood. 2001;97:1274-1281.
-
(2001)
Blood
, vol.97
, pp. 1274-1281
-
-
Vickers, M.A.1
McLeod, E.2
Spector, T.D.3
Wilson, I.J.4
-
14
-
-
0036553657
-
A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement
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König A, Happle R, Fink-Puches R, et al. A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement. J Am Acad Dermatol. 2002;46:594-596.
-
(2002)
J Am Acad Dermatol
, vol.46
, pp. 594-596
-
-
König, A.1
Happle, R.2
Fink-Puches, R.3
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