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Items: 1 to 20 of 180

1.

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
2.
3.

[Trichothiodystrophy: progresssive manifestations].

Foulc P, Jumbou O, David A, Sarasin A, Stalder JF.

Ann Dermatol Venereol. 1999 Oct;126(10):703-7. French.

4.

Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature (IBIDS syndrome).

Jorizzo JL, Atherton DJ, Crounse RG, Wells RS.

Br J Dermatol. 1982 Jun;106(6):705-10. No abstract available.

PMID:
7082576
5.
6.

Tay syndrome.

Jambhekar SD, Dhongade AR.

Indian J Pediatr. 2008 Mar;75(3):288-90.

PMID:
18376101
7.

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
8.

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
10.

"Brittle" hair with short stature, intellectual impairment and decreased fertility: an autosomal recessive syndrome in an Amish kindred.

Jackson CE, Weiss L, Watson JH.

Pediatrics. 1974 Aug;54(2):201-7. No abstract available.

PMID:
4847854
11.

[Trichothiodystrophy].

Meynadier J, Guillot B, Barnéon G, Djian B, Lévy A.

Ann Dermatol Venereol. 1987;114(12):1529-36. French.

PMID:
3445983
13.

Congenital ichthyosis with alopecia, eclabion, ectropion and mental retardation--a new genetic syndrome.

Jagell SF, Holmgren G, Hofer PA.

Clin Genet. 1987 Feb;31(2):102-8.

PMID:
3829441
14.

Woolly hair--study of a family.

Verbov J.

Dermatologica. 1978;157(1):42-7.

PMID:
668970
15.

Fallot complex, severe mental, and growth retardation: a new autosomal recessive syndrome?

Bindewald B, Ulmer H, Müller U.

Am J Med Genet. 1994 Apr 1;50(2):173-6.

PMID:
8010348
16.
17.

The Perlman syndrome: clinical and biological aspects.

Neri G, Martini-Neri ME, Opitz JM, Freed JJ.

Prog Clin Biol Res. 1985;200:269-76. No abstract available.

PMID:
3001776
18.

[Smith-Lemli-Opitz syndrome: description of 2 affected brothers, clinical characterization and hereditary mechanism].

Armendares S, Carnevale A, Del Castillo V, Najar Aparicio A.

Rev Invest Clin. 1973 Apr-Jun;25(2):129-42. Spanish. No abstract available.

PMID:
4722228
19.

Long-term follow-up of three individuals with Kabuki syndrome.

Shalev SA, Clarke LA, Koehn D, Langlois S, Zackai EH, Hall JG, McDonald McGinn DM.

Am J Med Genet A. 2004 Mar 1;125A(2):191-200.

PMID:
14981723
20.

Ichthyosiform eruption in a patient with Dubowitz syndrome.

Kato T, Komatsu H, Sakakibara A, Tagami H.

Pediatr Dermatol. 1995 Jun;12(2):130-3.

PMID:
7659638
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