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Results: 1 to 20 of 61

1.

Cutis Laxa.

Mohamed M, Voet M, Gardeitchik T, Morava E.

Adv Exp Med Biol. 2014;802:161-84. doi: 10.1007/978-94-007-7893-1_11. Review.

PMID:
24443027
[PubMed - indexed for MEDLINE]
2.

Primary systemic amyloidosis, acquired cutis laxa and cutaneous mucinosis in a patient with multiple myeloma.

Lavorato FG, Alves Mde F, Maceira JM, Unterstell N, Serpa LA, Azulay-Abulafia L.

An Bras Dermatol. 2013 Nov-Dec;88(6 Suppl 1):32-5. doi: 10.1590/abd1806-4841.20132531.

PMID:
24346874
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.

Dimopoulou A, Fischer B, Gardeitchik T, Schröter P, Kayserili H, Schlack C, Li Y, Brum JM, Barisic I, Castori M, Spaich C, Fletcher E, Mahayri Z, Bhat M, Girisha KM, Lachlan K, Johnson D, Phadke S, Gupta N, Simandlova M, Kabra M, David A, Nijtmans L, Chitayat D, Tuysuz B, Brancati F, Mundlos S, Van Maldergem L, Morava E, Wollnik B, Kornak U.

Mol Genet Metab. 2013 Nov;110(3):352-61. doi: 10.1016/j.ymgme.2013.08.009. Epub 2013 Aug 24.

PMID:
24035636
[PubMed - indexed for MEDLINE]
4.

Marshall's syndrome.

Fontenelle E, Almeida AP, Souza GM.

An Bras Dermatol. 2013 Mar-Apr;88(2):279-82. doi: 10.1590/S0365-05962013000200020.

PMID:
23739715
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Acquired cutis laxa with an interstitial granulomatous reaction associated with IgG lambda monoclonal gammopathy.

Silveira L, Torres I, Salvino MA, Follador I, Bittencourt AL.

Am J Dermatopathol. 2013 Jun;35(4):e67-71. doi: 10.1097/DAD.0b013e31827bceaf. Erratum in: Am J Dermatopathol. 2013 Aug;35(6):e114. Silveria, Laura [corrected to Silveira, Laura].

PMID:
23694828
[PubMed - indexed for MEDLINE]
6.

Acral localized acquired cutis laxa.

Martí N, Monteagudo C, Revert A, Reig I, Gámez L, Jordá E.

Int J Dermatol. 2013 Aug;52(8):983-6. doi: 10.1111/j.1365-4632.2011.04955.x. Epub 2013 May 15. No abstract available.

PMID:
23675943
[PubMed - indexed for MEDLINE]
7.

Longer term survival of a child with autosomal recessive cutis laxa due to a mutation in FBLN4.

Sawyer SL, Dicke F, Kirton A, Rajapkse T, Rebeyka IM, McInnes B, Parboosingh JS, Bernier FP.

Am J Med Genet A. 2013 May;161A(5):1148-53. doi: 10.1002/ajmg.a.35827. Epub 2013 Mar 26.

PMID:
23532871
[PubMed - indexed for MEDLINE]
8.

Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2.

Scherrer DZ, Baptista MB, Matos AH, Maurer-Morelli CV, Steiner CE.

Eur J Med Genet. 2013 Jun;56(6):336-9. doi: 10.1016/j.ejmg.2013.03.006. Epub 2013 Mar 24. No abstract available.

PMID:
23531708
[PubMed - indexed for MEDLINE]
Free Article
9.

Emphysema associated with acquired cutis laxa.

Sun XF, Liu YH, Xiao Y, Liu T, Zhong X.

Chin Med J (Engl). 2013 Mar;126(6):1194. No abstract available.

PMID:
23506607
[PubMed - indexed for MEDLINE]
Free Article
10.

Oculoplastic approach to congenital cutis laxa syndrome.

Tas A, Gundogan FC, Kocaturk T, Altun S, Bayram Y.

Aesthetic Plast Surg. 2013 Apr;37(2):417-20. doi: 10.1007/s00266-012-0047-3. Epub 2013 Feb 27.

PMID:
23443999
[PubMed - indexed for MEDLINE]
11.

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.

Hadj-Rabia S, Callewaert BL, Bourrat E, Kempers M, Plomp AS, Layet V, Bartholdi D, Renard M, De Backer J, Malfait F, Vanakker OM, Coucke PJ, De Paepe AM, Bodemer C.

Orphanet J Rare Dis. 2013 Feb 25;8(1):36. doi: 10.1186/1750-1172-8-36.

PMID:
23442826
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

The complexity of elastic fiber biogenesis: the paradigm of cutis laxa.

Urban Z.

J Invest Dermatol. 2012 Nov 15;132(E1):E12-4. doi: 10.1038/skinbio.2012.4. Review. No abstract available.

PMID:
23154624
[PubMed - indexed for MEDLINE]
Free Article
13.

The complexity of elastic fibre biogenesis in the skin--a perspective to the clinical heterogeneity of cutis laxa.

Uitto J, Li Q, Urban Z.

Exp Dermatol. 2013 Feb;22(2):88-92. doi: 10.1111/exd.12025. Epub 2012 Oct 23.

PMID:
23088642
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Congenital cutis laxa.

Kumar M, Singh R.

Indian Pediatr. 2012 Sep;49(9):771. No abstract available.

PMID:
23024093
[PubMed - indexed for MEDLINE]
Free Article
15.

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. doi: 10.1002/humu.22165. Epub 2012 Aug 13.

PMID:
22829427
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.

Fischer B, Dimopoulou A, Egerer J, Gardeitchik T, Kidd A, Jost D, Kayserili H, Alanay Y, Tantcheva-Poor I, Mangold E, Daumer-Haas C, Phadke S, Peirano RI, Heusel J, Desphande C, Gupta N, Nanda A, Felix E, Berry-Kravis E, Kabra M, Wevers RA, van Maldergem L, Mundlos S, Morava E, Kornak U.

Hum Genet. 2012 Nov;131(11):1761-73. doi: 10.1007/s00439-012-1197-8. Epub 2012 Jul 8.

PMID:
22773132
[PubMed - indexed for MEDLINE]
17.

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. doi: 10.1093/glycob/cws086. Epub 2012 May 18.

PMID:
22611120
[PubMed - indexed for MEDLINE]
Free Article
18.

Alternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa.

Sugitani H, Hirano E, Knutsen RH, Shifren A, Wagenseil JE, Ciliberto C, Kozel BA, Urban Z, Davis EC, Broekelmann TJ, Mecham RP.

J Biol Chem. 2012 Jun 22;287(26):22055-67. doi: 10.1074/jbc.M111.327940. Epub 2012 May 9.

PMID:
22573328
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Marked bilateral lower eyelid ectropion in cutis laxa: a paraneoplastic process in multiple myeloma.

Slingerland NW, Sonneveld P, Hollander JC, Bleyen I.

Orbit. 2012 Jun;31(3):174-6. doi: 10.3109/01676830.2011.648808.

PMID:
22551370
[PubMed - indexed for MEDLINE]
20.

De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction.

Zampatti S, Castori M, Fischer B, Ferrari P, Garavelli L, Dionisi-Vici C, Agolini E, Wischmeijer A, Morava E, Novelli G, Häberle J, Kornak U, Brancati F.

Am J Med Genet A. 2012 Apr;158A(4):927-31. doi: 10.1002/ajmg.a.35231. Epub 2012 Mar 12. No abstract available.

PMID:
22411858
[PubMed - indexed for MEDLINE]

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