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Items: 1 to 20 of 96

1.

Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome.

Handley MT, Mégarbané A, Meynert AM, Brown S, Freyer E, Taylor MS, Jackson IJ, Aligianis IA.

Mol Genet Genomic Med. 2014 Jul;2(4):319-25. doi: 10.1002/mgg3.70. Epub 2014 Mar 11.

2.

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.

Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, Sahai I, Bahena P, Reichert SL, Loh A, Wright GD, Liu J, Rahikkala E, Pivnick EK, Choudhri AF, Krüger U, Zemojtel T, van Ravenswaaij-Arts C, Mostafavi R, Stolte-Dijkstra I, Symoens S, Pajunen L, Al-Gazali L, Meierhofer D, Robinson PN, Mundlos S, Villarroel CE, Byers P, Masri A, Robertson SP, Schwarze U, Callewaert B, Reversade B, Kornak U.

Am J Hum Genet. 2015 Sep 3;97(3):483-92. doi: 10.1016/j.ajhg.2015.08.001. Epub 2015 Aug 27.

3.

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.

Fischer B, Callewaert B, Schröter P, Coucke PJ, Schlack C, Ott CE, Morroni M, Homann W, Mundlos S, Morava E, Ficcadenti A, Kornak U.

Mol Genet Metab. 2014 Aug;112(4):310-6. doi: 10.1016/j.ymgme.2014.05.003. Epub 2014 May 21.

PMID:
24913064
4.

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. doi: 10.1016/j.ejpn.2014.01.003. Epub 2014 Feb 28. Review.

PMID:
24767728
5.

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
6.

ALDH18A1-related cutis laxa syndrome with cyclic vomiting.

Nozaki F, Kusunoki T, Okamoto N, Yamamoto Y, Miya F, Tsunoda T, Kosaki K, Kumada T, Shibata M, Fujii T.

Brain Dev. 2016 Aug;38(7):678-84. doi: 10.1016/j.braindev.2016.01.003. Epub 2016 Jan 29.

PMID:
26829900
7.

A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.

Bicknell LS, Pitt J, Aftimos S, Ramadas R, Maw MA, Robertson SP.

Eur J Hum Genet. 2008 Oct;16(10):1176-86. doi: 10.1038/ejhg.2008.91. Epub 2008 May 14.

8.

Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1.

Bhola PT, Hartley T, Bareke E; Care4Rare Canada Consortium, Boycott KM, Nikkel SM, Dyment DA.

J Hum Genet. 2017 Jun;62(6):661-663. doi: 10.1038/jhg.2017.18. Epub 2017 Feb 23.

PMID:
28228640
9.

Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.

Guernsey DL, Jiang H, Evans SC, Ferguson M, Matsuoka M, Nightingale M, Rideout AL, Provost S, Bedard K, Orr A, Dubé MP, Ludman M, Samuels ME.

Am J Hum Genet. 2009 Jul;85(1):120-9. doi: 10.1016/j.ajhg.2009.06.008. Epub 2009 Jul 2.

10.

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
11.

Autosomal recessive cutis laxa syndrome revisited.

Morava E, Guillard M, Lefeber DJ, Wevers RA.

Eur J Hum Genet. 2009 Sep;17(9):1099-110. doi: 10.1038/ejhg.2009.22. Epub 2009 Apr 29. Review.

12.

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, Tao F, Konop J, Stoll M, Charles P, Jacoupy M, Matusiak R, Alonso I, Tallaksen C, Mairey M, Kennerson M, Gaussen M, Schule R, Janin M, Morice-Picard F, Durand CM, Depienne C, Calvas P, Coutinho P, Saudubray JM, Rouleau G, Brice A, Nicholson G, Darios F, Loureiro JL, Zuchner S, Ottolenghi C, Mochel F, Stevanin G.

Brain. 2015 Aug;138(Pt 8):2191-205. doi: 10.1093/brain/awv143. Epub 2015 May 29.

13.

Type II autosomal recessive cutis laxa: report of another patient and molecular studies concerning three candidate genes.

Scherrer DZ, Alexandrino F, Cintra ML, Sartorato EL, Steiner CE.

Am J Med Genet A. 2008 Nov 1;146A(21):2740-5. doi: 10.1002/ajmg.a.32345.

PMID:
18819152
14.

The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2.

Yildirim Y, Tolun A, Tüysüz B.

Am J Med Genet A. 2011 Jan;155A(1):134-40. doi: 10.1002/ajmg.a.33747. Epub 2010 Dec 9.

PMID:
21204221
15.

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.

16.

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. Epub 2007 Oct 31.

17.

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
18.

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. doi: 10.1007/s10545-011-9305-9. Epub 2011 Mar 23. Review.

19.

Male with type II autosomal recessive cutis laxa.

Imaizumi K, Kurosawa K, Makita Y, Masuno M, Kuroki Y.

Clin Genet. 1994 Jan;45(1):40-3.

PMID:
8149651
20.

Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.

Graul-Neumann LM, Hausser I, Essayie M, Rauch A, Kraus C.

Am J Med Genet A. 2008 Apr 15;146A(8):977-83. doi: 10.1002/ajmg.a.32242.

PMID:
18348261

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