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Items: 1 to 20 of 126

1.

X-linked ichthyosis: an update.

Hernández-Martín A, González-Sarmiento R, De Unamuno P.

Br J Dermatol. 1999 Oct;141(4):617-27. Review.

PMID:
10583107
2.

Deletion of exons 1-5 of the STS gene causing X-linked ichthyosis.

Valdes-Flores M, Kofman-Alfaro SH, Vaca AL, Cuevas-Covarrubias SA.

J Invest Dermatol. 2001 Mar;116(3):456-8.

3.

Most "sporadic" cases of X-linked ichthyosis are not de novo mutations.

Cuevas-Covarrubias SA, Valdes-Flores M, Orozco Orozco E, Díaz-Zagoya JC, Kofman-Alfaro SH.

Acta Derm Venereol. 1999 Mar;79(2):143-4.

PMID:
10228635
4.

Mutation report: a novel partial deletion of exons 2-10 of the STS gene in recessive X-linked ichthyosis.

Valdes-Flores M, Kofman-Alfaro SH, Vaca AL, Cuevas-Covarrubias SA.

J Invest Dermatol. 2000 Mar;114(3):591-3.

5.

X-linked ichthyosis: an oculocutaneous genodermatosis.

Fernandes NF, Janniger CK, Schwartz RA.

J Am Acad Dermatol. 2010 Mar;62(3):480-5. doi: 10.1016/j.jaad.2009.04.028. Review.

PMID:
20080321
6.

X-linked ichthyosis without STS deficiency: clinical, genetical, and molecular studies.

Robledo R, Melis P, Schillinger E, Casciano I, Balazs I, Rinaldi A, Siniscalco M, Filippi G.

Am J Med Genet. 1995 Nov 6;59(2):143-8.

PMID:
8588575
7.

A clinical and genetic study of X-linked recessive ichthyosis and contiguous gene defects.

Paige DG, Emilion GG, Bouloux PM, Harper JI.

Br J Dermatol. 1994 Nov;131(5):622-9.

PMID:
7999591
8.

The detection of steroid sulfatase gene deletion (STS) in Egyptian males with X-linked ichthyosis.

Abdel-Hamed MF, Hussein HA, Helmy NA, Elsaie ML.

J Drugs Dermatol. 2010 Oct;9(10):1192-6.

PMID:
20941942
9.

X-linked ichthyosis in Mexico: high frequency of deletions in the steroid sulfatase encoding gene.

Cuevas-Covarrubias SA, Kofman-Alfaro SH, Maya-Núñez G, Díaz-Zagoya JC, Orozco Orozco E.

Am J Med Genet. 1997 Nov 12;72(4):415-6.

PMID:
9375723
10.

Deletion pattern of the steroid sulphatase gene in Japanese patients with X-linked ichthyosis.

Saeki H, Kuwata S, Nakagawa H, Shimada S, Tamaki K, Ishibashi Y.

Br J Dermatol. 1998 Jul;139(1):96-8.

PMID:
9764155
11.

A novel point mutation in the steroid sulfatase gene in X-linked ichthyosis.

Morita E, Katoh O, Shinoda S, Hiragun T, Tanaka T, Kameyoshi Y, Yamamoto S.

J Invest Dermatol. 1997 Aug;109(2):244-5.

12.

Somatic and germinal mosaicism for the steroid sulfatase gene deletion in a steroid sulfatase deficiency carrier.

Cuevas-Covarrubias SA, Jiménez-Vaca AL, González-Huerta LM, Valdes-Flores M, Del Refugio Rivera-Vega M, Maya-Nunez G, Kofman-Alfaro SH.

J Invest Dermatol. 2002 Oct;119(4):972-5.

13.

Contiguous gene syndrome due to deletion of the first three exons of the Kallmann gene and complete deletion of the steroid sulphatase gene.

Maya-Núñez G, Cuevas-Covarrubias S, Zenteno JC, Ulloa-Aguirre A, Kofman-Alfaro S, Méndez JP.

Clin Endocrinol (Oxf). 1998 Jun;48(6):713-8.

PMID:
9713559
14.

Prenatal diagnosis of X-linked ichthyosis using molecular cytogenetics.

Santolaya-Forgas J, Cohen L, Vengalil S, Field F, Rodriguez A, McCorquadale M, McCorquadale DJ.

Fetal Diagn Ther. 1997 Jan-Feb;12(1):36-9.

PMID:
9101220
15.

Steroid sulfatase deficiency in Japanese patients: characterization of X-linked ichthyosis by using polymerase chain reaction.

Sugawara T, Honke K, Fujimoto S, Makita A.

Jpn J Hum Genet. 1993 Dec;38(4):421-8.

PMID:
8186420
16.
17.

Deletion patterns of the STS gene and flanking sequences in Israeli X-linked ichthyosis patients and carriers: analysis by polymerase chain reaction and fluorescence in situ hybridization techniques.

Aviram-Goldring A, Goldman B, Netanelov-Shapira I, Chen-Shtoyerman R, Zvulunov A, Tal O, Ilan T, Peleg L.

Int J Dermatol. 2000 Mar;39(3):182-7.

PMID:
10759956
18.

A study of the steroid sulfatase gene in families with X-linked ichthyosis using polymerase chain reaction.

Nomura K, Nakano H, Umeki K, Harada K, Kon A, Tamai K, Sawamura D, Hashimoto I.

Acta Derm Venereol. 1995 Sep;75(5):340-2.

PMID:
8615047
19.

[Gene deletion of X-linked ichthyosis].

Li M.

Zhonghua Yi Xue Za Zhi. 1992 Apr;72(4):210-2, 254. Chinese.

PMID:
1327447
20.

Prenatal in situ hybridization test for deleted steroid sulfatase gene.

Lebo RV, Lynch ED, Golbus MS, Flandermeyer RR, Yen PH, Shapiro LJ.

Am J Med Genet. 1993 Jul 1;46(6):652-8.

PMID:
8362907

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