150 related articles for article (PubMed ID: 24626674)
1. Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome.
Almeida HL; Rossi G; Abreu LB; Bergamaschi C; Silva AB; Kutsche K
An Bras Dermatol; 2014; 89(1):180-1. PubMed ID: 24626674
[TBL] [Abstract][Full Text] [Related]
2. 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; Fryssira H; Isidor B; Jauch A; Joubert M; Lachmeijer AM; Zweier C; Moog U; Kutsche K
Orphanet J Rare Dis; 2014 Apr; 9():53. PubMed ID: 24735900
[TBL] [Abstract][Full Text] [Related]
3. Microphthalmia with linear skin defects syndrome.
García-Rabasco A; De-Unamuno B; Martínez F; Febrer-Bosch I; Alegre-de-Miquel V
Pediatr Dermatol; 2013; 30(6):e230-1. PubMed ID: 22612277
[TBL] [Abstract][Full Text] [Related]
4. Linear skin defects and microphthalmia.
Durack A; Mehta SG; Allen LE; Ozanic Bulic S; Burrows NP
Clin Exp Dermatol; 2018 Oct; 43(7):860-862. PubMed ID: 29896851
[No Abstract] [Full Text] [Related]
5. 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. PubMed ID: 23401659
[TBL] [Abstract][Full Text] [Related]
6. 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; 96(4):640-50. PubMed ID: 25772934
[TBL] [Abstract][Full Text] [Related]
7. Microphthalmia with linear skin defects (MLS) syndrome: familial presentation.
Kumar P; Rajab A
Clin Exp Dermatol; 2018 Mar; 43(2):196-197. PubMed ID: 29023962
[No Abstract] [Full Text] [Related]
8. [COX7B mutations in MIDAS syndrome or microphthalmia with linear skin defects (MLS)].
Dereure O
Ann Dermatol Venereol; 2013 May; 140(5):405-6. PubMed ID: 23663720
[No Abstract] [Full Text] [Related]
9. A mosaic form of microphthalmia with linear skin defects.
Prepeluh N; Korpar B; Zagorac A; Zagradišnik B; Golub A; Kokalj Vokač N
BMC Pediatr; 2018 Aug; 18(1):254. PubMed ID: 30068298
[TBL] [Abstract][Full Text] [Related]
10. Xp22.3 microdeletion in a 19-year-old girl with clinical features of MLS syndrome.
Enright F; Campbell P; Stallings RL; Hall K; Green AJ; Sweeney E; Barnes L; Watson R
Pediatr Dermatol; 2003; 20(2):153-7. PubMed ID: 12657015
[TBL] [Abstract][Full Text] [Related]
11. 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; 25(5):548-52. PubMed ID: 18950397
[TBL] [Abstract][Full Text] [Related]
12. Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder.
Indrieri A; Franco B
Genes (Basel); 2021 Feb; 12(2):. PubMed ID: 33670341
[TBL] [Abstract][Full Text] [Related]
13. 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; 50(6):421-31. PubMed ID: 17845869
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 24096629
[No Abstract] [Full Text] [Related]
15. 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. PubMed ID: 17033964
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 11424926
[No Abstract] [Full Text] [Related]
17. Another observation of microphthalmia in an XX male: microphthalmia with linear skin defects syndrome without linear skin lesions.
Kono T; Migita T; Koyama S; Seki I
J Hum Genet; 1999; 44(1):63-8. PubMed ID: 9929982
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 9737776
[TBL] [Abstract][Full Text] [Related]
19. Xp22.3 microdeletion syndrome with microphthalmia, sclerocornea, linear skin defects, and congenital heart defects.
Lindor NM; Michels VV; Hoppe DA; Driscoll DJ; Leavitt JA; Dewald GW
Am J Med Genet; 1992 Sep; 44(1):61-5. PubMed ID: 1519653
[TBL] [Abstract][Full Text] [Related]
20. Second 46,XX male with MLS syndrome.
Stratton RF; Walter CA; Paulgar BR; Price ME; Moore CM
Am J Med Genet; 1998 Feb; 76(1):37-41. PubMed ID: 9508062
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]