420 related articles for article (PubMed ID: 15955459)
1. A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics.
Wopereis S; Morava E; Grünewald S; Mills PB; Winchester BG; Clayton P; Coucke P; Huijben KM; Wevers RA
Biochim Biophys Acta; 2005 Jun; 1741(1-2):156-64. PubMed ID: 15955459
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome.
Morava E; Willemsen MA; Wopereis S; Ter Laak H; Lefeber D; Wevers RA; Cruysberg JR
Eur J Ophthalmol; 2006; 16(1):190-4. PubMed ID: 16496270
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Mass spectrometry of apolipoprotein C-III, a simple analytical method for mucin-type O-glycosylation and its application to an autosomal recessive cutis laxa type-2 (ARCL2) patient.
Wada Y; Kadoya M; Okamoto N
Glycobiology; 2012 Aug; 22(8):1140-4. PubMed ID: 22611120
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.
Loeys B; Van Maldergem L; Mortier G; Coucke P; Gerniers S; Naeyaert JM; De Paepe A
Hum Mol Genet; 2002 Sep; 11(18):2113-8. PubMed ID: 12189163
[TBL] [Abstract][Full Text] [Related]
9. Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis.
Wopereis S; Grünewald S; Morava E; Penzien JM; Briones P; García-Silva MT; Demacker PN; Huijben KM; Wevers RA
Clin Chem; 2003 Nov; 49(11):1839-45. PubMed ID: 14578315
[TBL] [Abstract][Full Text] [Related]
10. An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism.
Mégarbané H; Florence J; Sass JO; Schwonbeck S; Foglio M; de Cid R; Cure S; Saker S; Mégarbané A; Fischer J
J Invest Dermatol; 2009 Jul; 129(7):1650-5. PubMed ID: 19194475
[TBL] [Abstract][Full Text] [Related]
11. Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups.
Wopereis S; Morava E; Grünewald S; Adamowicz M; Huijben KM; Lefeber DJ; Wevers RA
Glycobiology; 2005 Dec; 15(12):1312-9. PubMed ID: 16037491
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa.
Guillard M; Dimopoulou A; Fischer B; Morava E; Lefeber DJ; Kornak U; Wevers RA
Biochim Biophys Acta; 2009 Sep; 1792(9):903-14. PubMed ID: 19171192
[TBL] [Abstract][Full Text] [Related]
14. Cutis laxa with frontoparietal cortical malformation: a novel type of congenital disorder of glycosylation.
Okanishi T; Saito Y; Yuasa I; Miura M; Nagata I; Maegaki Y; Ohno K
Eur J Paediatr Neurol; 2008 May; 12(3):262-5. PubMed ID: 18187349
[TBL] [Abstract][Full Text] [Related]
15. Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects.
Wopereis S; Grünewald S; Huijben KM; Morava E; Mollicone R; van Engelen BG; Lefeber DJ; Wevers RA
Clin Chem; 2007 Feb; 53(2):180-7. PubMed ID: 17170056
[TBL] [Abstract][Full Text] [Related]
16. Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa.
Hu Q; Loeys BL; Coucke PJ; De Paepe A; Mecham RP; Choi J; Davis EC; Urban Z
Hum Mol Genet; 2006 Dec; 15(23):3379-86. PubMed ID: 17035250
[TBL] [Abstract][Full Text] [Related]
17. Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype.
Elahi E; Kalhor R; Banihosseini SS; Torabi N; Pour-Jafari H; Houshmand M; Amini SS; Ramezani A; Loeys B
J Invest Dermatol; 2006 Jul; 126(7):1506-9. PubMed ID: 16691202
[TBL] [Abstract][Full Text] [Related]
18. Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa.
Mohamed M; Gardeitchik T; Balasubramaniam S; Guerrero-Castillo S; Dalloyaux D; van Kraaij S; Venselaar H; Hoischen A; Urban Z; Brandt U; Al-Shawi R; Simons JP; Frison M; Ngu LH; Callewaert B; Spelbrink H; Kallemeijn WW; Aerts JMFG; Waugh MG; Morava E; Wevers RA
J Inherit Metab Dis; 2020 Nov; 43(6):1382-1391. PubMed ID: 32418222
[TBL] [Abstract][Full Text] [Related]
19. [Congenital generalized cutis laxa: 5 cases].
Rybojad M; Baumann C; Godeau G; Moraillon I; Prigent F; Morel P; Bourrat E
Ann Dermatol Venereol; 1999 Apr; 126(4):317-9. PubMed ID: 10421933
[TBL] [Abstract][Full Text] [Related]
20. Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.
Callewaert B; Su CT; Van Damme T; Vlummens P; Malfait F; Vanakker O; Schulz B; Mac Neal M; Davis EC; Lee JG; Salhi A; Unger S; Heimdal K; De Almeida S; Kornak U; Gaspar H; Bresson JL; Prescott K; Gosendi ME; Mansour S; Piérard GE; Madan-Khetarpal S; Sciurba FC; Symoens S; Coucke PJ; Van Maldergem L; Urban Z; De Paepe A
Hum Mutat; 2013 Jan; 34(1):111-21. PubMed ID: 22829427
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]