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Items: 1 to 20 of 130

1.

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
2.

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
3.

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
4.

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
5.

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.

6.

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.

7.

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 15;18(3). pii: E635. doi: 10.3390/ijms18030635. Review.

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.

9.

Mutations in PYCR1 cause cutis laxa with progeroid features.

Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Schmidt-von Kegler M, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Hausser I, Budde B, Nürnberg G, Nürnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U.

Nat Genet. 2009 Sep;41(9):1016-21. doi: 10.1038/ng.413. Epub 2009 Aug 2.

PMID:
19648921
10.

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
11.

Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.

Kretz R, Bozorgmehr B, Kariminejad MH, Rohrbach M, Hausser I, Baumer A, Baumgartner M, Giunta C, Kariminejad A, Häberle J.

J Inherit Metab Dis. 2011 Jun;34(3):731-9. doi: 10.1007/s10545-011-9319-3. Epub 2011 Apr 13.

PMID:
21487760
12.

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.

Gardeitchik T, Mohamed M, Fischer B, Lammens M, Lefeber D, Lace B, Parker M, Kim KJ, Lim BC, Häberle J, Garavelli L, Jagadeesh S, Kariminejad A, Guerra D, Leão M, Keski-Filppula R, Brunner H, Nijtmans L, van den Heuvel B, Wevers R, Kornak U, Morava E.

Eur J Hum Genet. 2014 Jul;22(7):888-95. doi: 10.1038/ejhg.2013.154. Epub 2013 Aug 21.

13.

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
14.

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
15.

Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations.

Kouwenberg D, Gardeitchik T, Wevers RA, Häberle J, Morava E.

Am J Med Genet A. 2011 Sep;155A(9):2331-2; author reply 2333-4. doi: 10.1002/ajmg.a.34154. Epub 2011 Aug 10. No abstract available.

PMID:
21834030
16.

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
17.

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.

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.

Cutis laxa type II with mutation in the pyrroline-5-carboxylate reductase 1 gene.

Nouri N, Aryani O, Nouri N, Kamalidehghan B, Houshmand M.

Pediatr Dermatol. 2013 Nov-Dec;30(6):e265-7. doi: 10.1111/pde.12065. Epub 2013 Feb 14.

PMID:
23406396
20.

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

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