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Items: 15

1.

Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome.

Prakash SK, Cormier TA, McCall AE, Garcia JJ, Sierra R, Haupt B, Zoghbi HY, Van Den Veyver IB.

Hum Mol Genet. 2002 Dec 1;11(25):3237-48.

PMID:
12444108
2.

Implications of FISH investigations in MIDAS syndrome associated with a 46,XX,t(X;Y) karyotype.

Kotzot D, Hoffmann K, Kujat A, Holland H, Froster UG, Mücke J.

Am J Med Genet. 2002 Nov 15;113(1):108-10. No abstract available.

PMID:
12400076
3.

Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS).

Kayserili H, Cox TC, Cox LL, Basaran S, Kiliç G, Ballabio A, Yüksel-Apak M.

J Med Genet. 2001 Jun;38(6):411-7. Review. No abstract available.

4.

Microphthalmia with linear skin defects syndrome in a mosaic female infant with monosomy for the Xp22 region: molecular analysis of the Xp22 breakpoint and the X-inactivation pattern.

Ogata T, Wakui K, Muroya K, Ohashi H, Matsuo N, Brown DM, Ishii T, Fukushima Y.

Hum Genet. 1998 Jul;103(1):51-6. Review.

PMID:
9737776
5.

Genomic structure of a human holocytochrome c-type synthetase gene in Xp22.3 and mutation analysis in patients with Rett syndrome.

Van den Veyver IB, Subramanian S, Zoghbi HY.

Am J Med Genet. 1998 Jun 30;78(2):179-81.

PMID:
9674913
6.

Second 46,XX male with MLS syndrome.

Stratton RF, Walter CA, Paulgar BR, Price ME, Moore CM.

Am J Med Genet. 1998 Feb 26;76(1):37-41.

PMID:
9508062
9.

The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions.

Wapenaar MC, Bassi MT, Schaefer L, Grillo A, Ferrero GB, Chinault AC, Ballabio A, Zoghbi HY.

Hum Mol Genet. 1993 Jul;2(7):947-52.

PMID:
8364577
10.

MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome.

Happle R, Daniëls O, Koopman RJ.

Am J Med Genet. 1993 Oct 1;47(5):710-3. Review.

PMID:
8267001
11.

Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization.

Lindsay EA, Grillo A, Ferrero GB, Roth EJ, Magenis E, Grompe M, Hultén M, Gould C, Baldini A, Zoghbi HY, et al.

Am J Med Genet. 1994 Jan 15;49(2):229-34.

PMID:
8116674
12.

MIDAS syndrome respectively MLS syndrome: a separate entity rather than a particular lyonization pattern of the gene causing Goltz syndrome.

Mücke J, Happle R, Theile H.

Am J Med Genet. 1995 May 22;57(1):117-8. No abstract available.

PMID:
7645589
13.

Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3.

al-Gazali LI, Mueller RF, Caine A, Antoniou A, McCartney A, Fitchett M, Dennis NR.

J Med Genet. 1990 Jan;27(1):59-63.

14.
15.

Linear skin defects and congenital microphthalmia: a new syndrome at Xp22.2.

Allanson J, Richter S.

J Med Genet. 1991 Feb;28(2):143-4. No abstract available.

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