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Items: 1 to 20 of 110

1.

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

Wimplinger I, Morleo M, Rosenberger G, Iaconis D, Orth U, Meinecke P, Lerer I, Ballabio A, Gal A, Franco B, Kutsche K.

Am J Hum Genet. 2006 Nov;79(5):878-89. Epub 2006 Sep 6.

3.

Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.

van Rahden VA, Rau I, Fuchs S, Kosyna FK, de Almeida HL Jr, Fryssira H, Isidor B, Jauch A, Joubert M, Lachmeijer AM, Zweier C, Moog U, Kutsche K.

Orphanet J Rare Dis. 2014 Apr 15;9:53. doi: 10.1186/1750-1172-9-53.

5.

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
6.
7.

Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.

van Rahden VA, Fernandez-Vizarra E, Alawi M, Brand K, Fellmann F, Horn D, Zeviani M, Kutsche K.

Am J Hum Genet. 2015 Apr 2;96(4):640-50. doi: 10.1016/j.ajhg.2015.02.002. Epub 2015 Mar 12.

8.
9.

Microphthalmia with Linear Skin Defects (MLS) associated with Autism Spectrum Disorder (ASD) in a patient with Familial 12.9Mb Terminal Xp deletion.

Margari L, Colonna A, Craig F, Gentile M, Giannella G, Lamanna AL, Legrottaglie AR.

BMC Pediatr. 2014 Sep 2;14:220. doi: 10.1186/1471-2431-14-220.

10.
11.

Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.

Indrieri A, van Rahden VA, Tiranti V, Morleo M, Iaconis D, Tammaro R, D'Amato I, Conte I, Maystadt I, Demuth S, Zvulunov A, Kutsche K, Zeviani M, Franco B.

Am J Hum Genet. 2012 Nov 2;91(5):942-9. doi: 10.1016/j.ajhg.2012.09.016.

12.

Microphthalmia with linear skin defects syndrome.

García-Rabasco A, De-Unamuno B, Martínez F, Febrer-Bosch I, Alegre-de-Miquel V.

Pediatr Dermatol. 2013 Nov-Dec;30(6):e230-1. doi: 10.1111/j.1525-1470.2012.01735.x. Epub 2012 May 21.

PMID:
22612277
13.

Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome.

Almeida HL Jr, Rossi G, Abreu LB, Bergamaschi C, Silva AB, Kutsche K.

An Bras Dermatol. 2014 Jan-Feb;89(1):180-1. doi: 10.1590/abd1806-4841.20142240.

14.

[COX7B mutations in MIDAS syndrome or microphthalmia with linear skin defects (MLS)].

Dereure O.

Ann Dermatol Venereol. 2013 May;140(5):405-6. doi: 10.1016/j.annder.2013.02.001. Epub 2013 Mar 16. French. No abstract available.

PMID:
23663720
15.

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
16.

Mitochondrial cytochrome c synthase: CP motifs are not necessary for heme attachment to apocytochrome c.

Moore RL, Stevens JM, Ferguson SJ.

FEBS Lett. 2011 Nov 4;585(21):3415-9. doi: 10.1016/j.febslet.2011.08.042. Epub 2011 Sep 6.

17.

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
18.

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. Erratum in: EMBO Mol Med. 2014 Jun;6(6):849.

19.

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.

20.

Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of Xp.

Kutsche K, Werner W, Bartsch O, von der Wense A, Meinecke P, Gal A.

Cytogenet Genome Res. 2002;99(1-4):297-302.

PMID:
12900578

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