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Results: 1 to 20 of 64

Select item 230240931.

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

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Select item 227731322.

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]

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Select item 226111203.

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]

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Select item 225733284.

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]

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Select item 225513705.

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]

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Select item 224118586.

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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Select item 224093967.

Cutis laxa-like mycosis fungoides.

López Aventín D, Gallardo F, Gil I, Martín-Ezquerra G, García M, Bellosillo B, Juanpere N, Pujol RM.

J Dermatol. 2012 Jun;39(6):548-51. doi: 10.1111/j.1346-8138.2012.01523.x. Epub 2012 Mar 13.

PMID:: 22409396; [PubMed - indexed for MEDLINE]

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Select item 223870318.

Cutis laxa: a review.

Berk DR, Bentley DD, Bayliss SJ, Lind A, Urban Z.

J Am Acad Dermatol. 2012 May;66(5):842.e1-17. doi: 10.1016/j.jaad.2011.01.004. Epub 2012 Mar 2. Review.

PMID:: 22387031; [PubMed - indexed for MEDLINE]

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Select item 221823839.

Cutis laxa with skeletal muscle and nerve damage.

Li S, Zhou S, Wei X, Yang A, Zhang L.

Int J Dermatol. 2012 Jan;51(1):86-8. doi: 10.1111/j.1365-4632.2011.04880.x. No abstract available.

PMID:: 22182383; [PubMed - indexed for MEDLINE]

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Select item 2217388910.

Infant with MCA and severe cutis laxa due to a de novo duplication 11p of paternal origin.

Gardeitchik T, de Leeuw N, Nijtmans L, Jira P, Kozicz T, Czako M, van de Burgt I, Morava E.

Am J Med Genet A. 2012 Feb;158A(2):469-72. doi: 10.1002/ajmg.a.34410. Epub 2011 Dec 15. No abstract available.

PMID:: 22173889; [PubMed - indexed for MEDLINE]

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Select item 2205285611.

Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.

Lin DS, Chang JH, Liu HL, Wei CH, Yeung CY, Ho CS, Shu CH, Chiang MF, Chuang CK, Huang YW, Wu TY, Jian YR, Huang ZD, Lin SP.

Am J Med Genet A. 2011 Dec;155A(12):3095-9. doi: 10.1002/ajmg.a.34326. Epub 2011 Nov 3.

PMID:: 22052856; [PubMed - indexed for MEDLINE]

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Select item 2196480612.

Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: evidence for a spectrum of ectopic calcification disorders?

Vanakker OM, Leroy BP, Schurgers LJ, Vermeer C, Coucke PJ, De Paepe A.

Am J Med Genet A. 2011 Nov;155A(11):2855-9. doi: 10.1002/ajmg.a.34264. Epub 2011 Sep 30.

PMID:: 21964806; [PubMed - indexed for MEDLINE]

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Select item 2194496213.

Renal crescentic alpha heavy chain deposition disease: a report of 3 cases and review of the literature.

Alexander MP, Nasr SH, Watson DC, Méndez GP, Rennke HG.

Am J Kidney Dis. 2011 Oct;58(4):621-5. doi: 10.1053/j.ajkd.2011.05.022. Review.

PMID:: 21944962; [PubMed - indexed for MEDLINE]

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Select item 2181039314.

Acquired cutis laxa in a 55-year-old female with multiple myeloma and serologic evidence of systemic lupus erythematosus.

Kim DP, Klein PA.

Dermatol Online J. 2011 Jul 15;17(7):8.

PMID:: 21810393; [PubMed - indexed for MEDLINE]

Free Article

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Select item 2173957615.

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).

Skidmore DL, Chitayat D, Morgan T, Hinek A, Fischer B, Dimopoulou A, Somers G, Halliday W, Blaser S, Diambomba Y, Lemire EG, Kornak U, Robertson SP.

Am J Med Genet A. 2011 Aug;155A(8):1848-56. doi: 10.1002/ajmg.a.34057. Epub 2011 Jul 7.

PMID:: 21739576; [PubMed - indexed for MEDLINE]

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Select item 2173032316.

Cardiovascular complications of cutis laxa syndrome: successful diagnosis and surgical management.

Roussin I, Sheppard MN, Rubens M, Kaddoura S, Pepper J, Mohiaddin RH.

Circulation. 2011 Jul 5;124(1):100-2. doi: 10.1161/CIRCULATIONAHA.111.025056. No abstract available.

PMID:: 21730323; [PubMed - indexed for MEDLINE]

Free Article

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Select item 2172047417.

Sweet syndrome, cutis laxa, and fatal cardiac manifestations in a 2-year-old girl.

Guhamajumdar M, Agarwala B.

Tex Heart Inst J. 2011;38(3):285-7.

PMID:: 21720474; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2171940318.

Cutis laxa: analysis of metalloproteinases and extracellular matrix expression by immunohistochemistry and histochemistry.

Gu W, Liu W, Yang X, Yuan X, Tian Y, Meng R, Zhao Q.

Eur J Dermatol. 2011 Sep-Oct;21(5):717-21. doi: 10.1684/ejd.2011.1449.

PMID:: 21719403; [PubMed - indexed for MEDLINE]

Free Article

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Select item 2156791419.

A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family.

Lin DS, Yeung CY, Liu HL, Ho CS, Shu CH, Chuang CK, Huang YW, Wu TY, Huang ZD, Jian YR, Lin SP.

Am J Med Genet A. 2011 Jun;155A(6):1285-9. doi: 10.1002/ajmg.a.33963. Epub 2011 May 12.

PMID:: 21567914; [PubMed - indexed for MEDLINE]

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Select item 2150857220.

Congenital cutis laxa with rectal and uterovaginal prolapse.

Choudhary SV, Bisati S, Koley S.

Indian J Dermatol Venereol Leprol. 2011 May-Jun;77(3):321-4. doi: 10.4103/0378-6323.79706.

PMID:: 21508572; [PubMed - indexed for MEDLINE]

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12 free full-text articles in PubMed Central

Sweet syndrome, cutis laxa, and fatal cardiac manifestations in a 2-year-old girl. [Tex Heart Inst J. 2011]
Sweet syndrome, cutis laxa, and fatal cardiac manifestations in a 2-year-old girl.
Guhamajumdar M, Agarwala B. Tex Heart Inst J. 2011; 38(3):285-7.
Review Metabolic cutis laxa syndromes. [J Inherit Metab Dis. 2011]
Review Metabolic cutis laxa syndromes.
Mohamed M, Kouwenberg D, Gardeitchik T, Kornak U, Wevers RA, Morava E. J Inherit Metab Dis. 2011 Aug; 34(4):907-16. Epub 2011 Mar 23.
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. [Hum Mutat. 2011]
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.
Callewaert B, Renard M, Hucthagowder V, Albrecht B, Hausser I, Blair E, Dias C, Albino A, Wachi H, Sato F, et al. Hum Mutat. 2011 Apr; 32(4):445-55. Epub 2011 Mar 1.

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