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Results: 12

1.

The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes.

Indrieri A, Conte I, Chesi G, Romano A, Quartararo J, Tatè R, Ghezzi D, Zeviani M, Goffrini P, Ferrero I, Bovolenta P, Franco B.

EMBO Mol Med. 2013 Feb;5(2):280-93. doi: 10.1002/emmm.201201739. Epub 2013 Jan 22.

PMID:
23239471
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.

Harmsen MB, Azzarello-Burri S, García González MM, Gillessen-Kaesbach G, Meinecke P, Müller D, Rauch A, Rossier E, Seemanova E, Spaich C, Steiner B, Wieczorek D, Zenker M, Kutsche K.

Eur J Hum Genet. 2009 Oct;17(10):1207-15. doi: 10.1038/ejhg.2009.40. Epub 2009 Mar 11.

PMID:
19277062
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Microphthalmia with linear skin defects: a case report and review.

Sharma VM, Ruiz de Luzuriaga AM, Waggoner D, Greenwald M, Stein SL.

Pediatr Dermatol. 2008 Sep-Oct;25(5):548-52. doi: 10.1111/j.1525-1470.2008.00724.x. Review.

PMID:
18950397
[PubMed - indexed for MEDLINE]
4.

Corneal pathology in microphthalmia with linear skin defects syndrome.

Kapur R, Tu EY, Toyran S, Shah P, Vangveeravong S, Lloyd WC 3rd, Edward DP.

Cornea. 2008 Jul;27(6):734-8. doi: 10.1097/QAI.0b013e31815b834d.

PMID:
18580270
[PubMed - indexed for MEDLINE]
5.

Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders.

Morleo M, Franco B.

J Med Genet. 2008 Jul;45(7):401-8. doi: 10.1136/jmg.2008.058305. Epub 2008 May 7. Review.

PMID:
18463129
[PubMed - indexed for MEDLINE]
6.
7.

Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome.

Wimplinger I, Rauch A, Orth U, Schwarzer U, Trautmann U, Kutsche K.

Eur J Med Genet. 2007 Nov-Dec;50(6):421-31. Epub 2007 Aug 6.

PMID:
17845869
[PubMed - indexed for MEDLINE]
8.

Microphthalmia with linear skin defects (MLS) syndrome evaluated by prenatal karyotyping, FISH and array comparative genomic hybridization.

Cain CC, Saul D, Attanasio L, Oehler E, Hamosh A, Blakemore K, Stetten G.

Prenat Diagn. 2007 Apr;27(4):373-9.

PMID:
17286317
[PubMed - indexed for MEDLINE]
9.

Phenotype in X chromosome rearrangements: pitfalls of X inactivation study.

Schluth C, Cossée M, Girard-Lemaire F, Carelle N, Dollfus H, Jeandidier E, Flori E.

Pathol Biol (Paris). 2007 Feb;55(1):29-36. Epub 2006 May 11.

PMID:
16690229
[PubMed - indexed for MEDLINE]
10.

Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases.

Morleo M, Pramparo T, Perone L, Gregato G, Le Caignec C, Mueller RF, Ogata T, Raas-Rothschild A, de Blois MC, Wilson LC, Zaidman G, Zuffardi O, Ballabio A, Franco B.

Am J Med Genet A. 2005 Aug 30;137(2):190-8.

PMID:
16059943
[PubMed - indexed for MEDLINE]
11.

Defects in the biosynthesis of mitochondrial heme c and heme a in yeast and mammals.

Moraes CT, Diaz F, Barrientos A.

Biochim Biophys Acta. 2004 Dec 6;1659(2-3):153-9. Review.

PMID:
15576047
[PubMed - indexed for MEDLINE]
12.

Phenotypic variation in ophthalmic manifestations of MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea).

Cape CJ, Zaidman GW, Beck AD, Kaufman AH.

Arch Ophthalmol. 2004 Jul;122(7):1070-4. No abstract available.

PMID:
15249380
[PubMed - indexed for MEDLINE]

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