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Items: 1 to 20 of 322

4.
5.

Rud syndrome revisited: ichthyosis, mental retardation, epilepsy and hypogonadism.

Marxmiller J, Trenkle I, Ashwal S.

Dev Med Child Neurol. 1985 Jun;27(3):335-43.

PMID:
3926570
6.

XY translocation in a boy with ichthyosis, hypogonadism, short stature and mental retardation.

Matsumoto T, Taku K, Miike T, Harada N, Niikawa N.

Clin Genet. 1991 Feb;39(2):156-8. No abstract available.

PMID:
2015697
7.

Non-bullous ichthyosiform erythroderma associated with retinitis pigmentosa.

Rajagopalan B.

Am J Med Genet. 2001 Mar 15;99(3):181-4.

PMID:
11241486
8.

Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation.

van Steensel MA, Vreeburg M, Engelen J, Ghesquiere S, Stegmann AP, Herbergs J, van Lent J, Smeets B, Vles JH.

Am J Med Genet A. 2008 Nov 15;146A(22):2944-9. doi: 10.1002/ajmg.a.32473.

PMID:
18925676
10.
11.

Tay or IBIDS syndrome. A case with growth and mental retardation, congenital ichthyosis and brittle hair.

Blomquist HK, Bäck O, Fagerlund M, Holmgren G, Stecksén-Blicks C.

Acta Paediatr Scand. 1991 Dec;80(12):1241-5. Review.

PMID:
1785299
12.

A familial X/Y translocation in a boy with ichthyosis, hypogonadism and mental retardation.

Metaxotou C, Ikkos D, Panagiotopoulou P, Alevizaki M, Mavrou A, Tsenghi C, Matsaniotis N.

Clin Genet. 1983 Nov;24(5):380-3.

PMID:
6652948
13.

X-linked ichthyosis, bilateral cryptorchidism, hypogenitalism and mental retardation in two siblings.

Abe K, Matsuda I, Matsuura N, Murayama T, Uzuki K, Okuno A.

Clin Genet. 1976 Mar;9(3):341-5.

PMID:
4250
14.

Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: "D-CHRAMPS syndrome".

Hiyasat D, Dehyyat MA, Ajlouni S, Mubaidin AF, Till M, Hadidi A, El-Shanti H, Ajlouni KM.

Eur J Pediatr. 2002 Mar;161(3):170-2.

PMID:
11998919
15.

The Tay syndrome (congenital ichthyosis with trichothiodystrophy).

Happle R, Traupe H, Gröbe H, Bonsmann G.

Eur J Pediatr. 1984 Jan;141(3):147-52.

PMID:
6538137
16.
17.

Ichthyosis vulgaris with hypogenitalism and hypogonadism: evidence for different genotypes by lipoprotein electrophoresis and steroid sulfatase testing.

Traupe H, Müller-Migl CR, Kolde G, Happle R, Kövary PM, Hameister H, Ropers HH.

Clin Genet. 1984 Jan;25(1):42-51.

PMID:
6584254
18.

Sjögren-Larsson syndrome. Oligophrenia--ichthyosis--di-tetraplegia.

Theile U.

Humangenetik. 1974 May 17;22(2):91-118. Review. No abstract available.

PMID:
4135782
19.
20.

Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.

Lonardo F, Parenti G, Luquetti DV, Annunziata I, Della Monica M, Perone L, De Gregori M, Zuffardi O, Brunetti-Pierri N, Andria G, Scarano G.

Eur J Med Genet. 2007 Jul-Aug;50(4):301-8. Epub 2007 May 21.

PMID:
17591464

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