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Items: 1 to 20 of 88

1.

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.

2.

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.

3.

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.

4.

[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
5.

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.

7.

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.

8.

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
10.
11.

A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy.

Huigsloot M, Nijtmans LG, Szklarczyk R, Baars MJ, van den Brand MA, Hendriksfranssen MG, van den Heuvel LP, Smeitink JA, Huynen MA, Rodenburg RJ.

Am J Hum Genet. 2011 Apr 8;88(4):488-93. doi: 10.1016/j.ajhg.2011.03.002. Epub 2011 Mar 31.

12.

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.

13.
14.

Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11.

Rea G, Homfray T, Till J, Roses-Noguer F, Buchan RJ, Wilkinson S, Wilk A, Walsh R, John S, McKee S, Stewart FJ, Murday V, Taylor RW, Ashworth M, Baksi AJ, Daubeney P, Prasad S, Barton PJR, Cook SA, Ware JS.

Cold Spring Harb Mol Case Stud. 2017 Jan;3(1):a001271. doi: 10.1101/mcs.a001271.

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.

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.

17.

Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families.

Abouzeid H, Favez T, Schmid A, Agosti C, Youssef M, Marzouk I, El Shakankiry N, Bayoumi N, Munier FL, Schorderet DF.

Hum Mutat. 2014 Aug;35(8):949-53. doi: 10.1002/humu.22580. Epub 2014 Jun 3.

PMID:
24777706
18.

Structural analysis of mitochondrial mutations reveals a role for bigenomic protein interactions in human disease.

Lloyd RE, McGeehan JE.

PLoS One. 2013 Jul 9;8(7):e69003. doi: 10.1371/journal.pone.0069003. Print 2013.

19.

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.

20.

Congenital linear streaks on the face and neck and microphthalmia in an infant girl.

Kluger N, Bouissou A, Tauzin L, Puechberty J, Dereure O.

Acta Derm Venereol. 2014 May;94(3):342-3. doi: 10.2340/00015555-1688. No abstract available.

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