334 related articles for article (PubMed ID: 27631729)
1. Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A.
Cohen R; Halevy A; Aharoni S; Kraus D; Konen O; Basel-Vanagaite L; Goldberg-Stern H; Straussberg R
Neurogenetics; 2016 Oct; 17(4):251-257. PubMed ID: 27631729
[TBL] [Abstract][Full Text] [Related]
2. Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.
Kariminejad A; Afroozan F; Bozorgmehr B; Ghanadan A; Akbaroghli S; Khorram Khorshid HR; Mojahedi F; Setoodeh A; Loh A; Tan YX; Escande-Beillard N; Malfait F; Reversade B; Gardeitchik T; Morava E
Int J Mol Sci; 2017 Mar; 18(3):. PubMed ID: 28294978
[TBL] [Abstract][Full Text] [Related]
3. A novel deletion mutation in the ATP6V0A2 gene in an Iranian patient affected by autosomal recessive cutis laxa.
Shafagh Shishavan N; Morovvati S
Ir J Med Sci; 2023 Oct; 192(5):2279-2282. PubMed ID: 36520350
[TBL] [Abstract][Full Text] [Related]
4. Autosomal recessive cutis laxa syndrome revisited.
Morava E; Guillard M; Lefeber DJ; Wevers RA
Eur J Hum Genet; 2009 Sep; 17(9):1099-110. PubMed ID: 19401719
[TBL] [Abstract][Full Text] [Related]
5. Autosomal recessive form of congenital cutis laxa: more than the clinical appearance.
Andiran N; Sarikayalar F; Saraçlar M; Cağlar M
Pediatr Dermatol; 2002; 19(5):412-4. PubMed ID: 12383097
[TBL] [Abstract][Full Text] [Related]
6. Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.
Zaman Q; Iftikhar A; Rehman G; Khan Q; Najumuddin ; Jan A; Khan J; Anas M; Laiba ; Umair M; Muthaffar OY; Abdulkareem AA; Bibi F; Naseer MI; Jelani M
J Gene Med; 2023 Oct; 25(10):e3522. PubMed ID: 37119015
[TBL] [Abstract][Full Text] [Related]
7. Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.
Wolthuis DF; van Asbeck E; Mohamed M; Gardeitchik T; Lim-Melia ER; Wevers RA; Morava E
Eur J Paediatr Neurol; 2014 Jul; 18(4):511-5. PubMed ID: 24767728
[TBL] [Abstract][Full Text] [Related]
8. Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA.
Angelini C; Thibaud M; Aladjidi N; Bessou P; Cabasson S; Colson C; Espil-Taris C; Goizet C; Husson M; Morice-Picard F; De Sandre-Giovannoli A; Pédespan JM
Neuropediatrics; 2020 Aug; 51(4):245-250. PubMed ID: 32143220
[TBL] [Abstract][Full Text] [Related]
9. Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.
Van Maldergem L; Yuksel-Apak M; Kayserili H; Seemanova E; Giurgea S; Basel-Vanagaite L; Leao-Teles E; Vigneron J; Foulon M; Greally M; Jaeken J; Mundlos S; Dobyns WB
Neurology; 2008 Nov; 71(20):1602-8. PubMed ID: 18716235
[TBL] [Abstract][Full Text] [Related]
10. Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.
Morava E; Lefeber DJ; Urban Z; de Meirleir L; Meinecke P; Gillessen Kaesbach G; Sykut-Cegielska J; Adamowicz M; Salafsky I; Ranells J; Lemyre E; van Reeuwijk J; Brunner HG; Wevers RA
Eur J Hum Genet; 2008 Jan; 16(1):28-35. PubMed ID: 17971833
[TBL] [Abstract][Full Text] [Related]
11. Decreased bone density and treatment in patients with autosomal recessive cutis laxa.
Noordam C; Funke S; Knoers NV; Jira P; Wevers RA; Urban Z; Morava E
Acta Paediatr; 2009 Mar; 98(3):490-4. PubMed ID: 19055655
[TBL] [Abstract][Full Text] [Related]
12. Defective protein glycosylation in patients with cutis laxa syndrome.
Morava E; Wopereis S; Coucke P; Gillessen-Kaesbach G; Voit T; Smeitink J; Wevers R; Grünewald S
Eur J Hum Genet; 2005 Apr; 13(4):414-21. PubMed ID: 15657616
[TBL] [Abstract][Full Text] [Related]
13. Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients.
Greally MT; Kalis NN; Agab W; Ardati K; Giurgea S; Kornak U; Van Maldergem L
Am J Med Genet A; 2014 May; 164A(5):1245-53. PubMed ID: 24478233
[TBL] [Abstract][Full Text] [Related]
14. Autosomal recessive cutis laxa type IIIA: Report of a patient with severe phenotype and review of the literature.
Lugli L; Cavalleri F; Bertucci E; Fischer-Zirnsak B; Cinelli G; Trevisani V; Rossi C; Riva M; Iughetti L; Berardi A
Eur J Med Genet; 2022 Sep; 65(9):104568. PubMed ID: 35842092
[TBL] [Abstract][Full Text] [Related]
15. A Novel
Karacan İ; Diz Küçükkaya R; Karakuş FN; Solakoğlu S; Tolun A; Hançer VS; Turanlı ET
Turk J Haematol; 2019 Feb; 36(1):29-36. PubMed ID: 30474613
[TBL] [Abstract][Full Text] [Related]
16. Congenital cutis laxa syndrome: type II autosomal recessive inheritance.
Tüysüz B; Arapoğlu M; Ilikkan B; Demirkesen C; Perk Y
Turk J Pediatr; 2003; 45(3):265-8. PubMed ID: 14696810
[TBL] [Abstract][Full Text] [Related]
17. Cutis Laxa syndrome: a case report.
Hbibi M; Abourazzak S; Idrissi M; Chaouki S; Atmani S; Hida M
Pan Afr Med J; 2015; 20():3. PubMed ID: 25995800
[TBL] [Abstract][Full Text] [Related]
18. Cutis laxa of the autosomal recessive type in a consanguineous family.
de Schepper S; Loeys B; de Paepe A; Lambert J; Naeyaert JM
Eur J Dermatol; 2003; 13(6):529-33. PubMed ID: 14721770
[TBL] [Abstract][Full Text] [Related]
19. Cutis Laxa.
Mohamed M; Voet M; Gardeitchik T; Morava E
Adv Exp Med Biol; 2014; 802():161-84. PubMed ID: 24443027
[TBL] [Abstract][Full Text] [Related]
20. Congenital cutis laxa with rectal and uterovaginal prolapse.
Choudhary SV; Bisati S; Koley S
Indian J Dermatol Venereol Leprol; 2011; 77(3):321-4. PubMed ID: 21508572
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
