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Results: 6

1.

Aicardi syndrome associated with autosomal genomic imbalance: coincidence or evidence for autosomal inheritance with sex-limited expression?

Prontera P, Bartocci A, Ottaviani V, Isidori I, Rogaia D, Ardisia C, Guercini G, Mencarelli A, Donti E.

Mol Syndromol. 2013 Apr;4(4):197-202. doi: 10.1159/000350040. Epub 2013 Apr 11.

PMID:
23801936
[PubMed]
Free PMC Article
2.

Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome.

Vergult S, Leroy B, Claerhout I, Menten B.

Mol Vis. 2013;19:311-8. Epub 2013 Feb 6.

PMID:
23401659
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Chorioretinal architecture in Aicardi syndrome: an optical coherence tomography and fluorescein angiography study.

Martel JN, Rutar T, Lujan BJ, de Alba Campomanes A.

J AAPOS. 2011 Jun;15(3):308-10. doi: 10.1016/j.jaapos.2011.03.011.

PMID:
21777802
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Chromosome abnormalities and the genetics of congenital corneal opacification.

Mataftsi A, Islam L, Kelberman D, Sowden JC, Nischal KK.

Mol Vis. 2011;17:1624-40. Epub 2011 Jun 17. Review.

PMID:
21738392
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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
6.

Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Tommerup N.

J Med Genet. 1993 Sep;30(9):713-27. Review. No abstract available.

PMID:
8411066
[PubMed - indexed for MEDLINE]
Free PMC Article

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