Van Maldergem L - Search Results

1

Severe congenital cutis laxa with pulmonary emphysema: a family with three affected sibs.

Van Maldergem L, Vamos E, Liebaers I, Petit P, Vandevelde G, Simonis-Blumenfrucht A, Bouffioux R, Kulakowski S, Hanquinet S, Van Durme P, et al. Van Maldergem L, et al. Among authors: van durme p. Am J Med Genet. 1988 Oct;31(2):455-64. doi: 10.1002/ajmg.1320310226. Am J Med Genet. 1988. PMID: 3232707

2

Facial anomalies in congenital cutis laxa with retarded growth and skeletal dysplasia.

Van Maldergem L, Ogŭr G, Yüksel M. Van Maldergem L, et al. Am J Med Genet. 1989 Feb;32(2):265. doi: 10.1002/ajmg.1320320229. Am J Med Genet. 1989. PMID: 2929668 No abstract available.

3

Congenital cutis laxa with ligamentous laxity and delayed development, Dandy-Walker malformation and minor heart and osseous defects.

Biver A, De Rijcke S, Toppet V, Ledoux-Corbusier M, Van Maldergem L. Biver A, et al. Among authors: van maldergem l. Clin Genet. 1994 Jun;45(6):318-22. doi: 10.1111/j.1399-0004.1994.tb04040.x. Clin Genet. 1994. PMID: 7523003 Review.

4

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. Loeys B, et al. Among authors: van maldergem l. Hum Mol Genet. 2002 Sep 1;11(18):2113-8. doi: 10.1093/hmg/11.18.2113. Hum Mol Genet. 2002. PMID: 12189163

5

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. Callewaert B, et al. Among authors: van maldergem l, van damme t. Hum Mutat. 2013 Jan;34(1):111-21. doi: 10.1002/humu.22165. Epub 2012 Aug 13. Hum Mutat. 2013. PMID: 22829427 Free PMC article.

6

Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients.

Greally MT, Kalis NN, Agab W, Ardati K, Giurgea S, Kornak U, Van Maldergem L. Greally MT, et al. Among authors: van maldergem l. Am J Med Genet A. 2014 May;164A(5):1245-53. doi: 10.1002/ajmg.a.36411. Epub 2014 Jan 29. Am J Med Genet A. 2014. PMID: 24478233

7

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.

Piard J, Lespinasse J, Vlckova M, Mensah MA, Iurian S, Simandlova M, Malikova M, Bartsch O, Rossi M, Lenoir M, Nugues F, Mundlos S, Kornak U, Stanier P, Sousa SB, Van Maldergem L. Piard J, et al. Among authors: van maldergem l. Am J Med Genet A. 2018 Mar;176(3):668-675. doi: 10.1002/ajmg.a.38604. Epub 2018 Jan 17. Am J Med Genet A. 2018. PMID: 29341480 Free PMC article. Review.

8

Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion.

Wuyts W, Roland D, Lüdecke HJ, Wauters J, Foulon M, Van Hul W, Van Maldergem L. Wuyts W, et al. Among authors: van maldergem l, van hul w. Am J Med Genet. 2002 Dec 15;113(4):326-32. doi: 10.1002/ajmg.10845. Am J Med Genet. 2002. PMID: 12457403

9

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nürnberg P, Foulquier F; ARCL Debré-type Study Group; Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S. Kornak U, et al. Among authors: van reeuwijk j, van maldergem l, van bokhoven h. Nat Genet. 2008 Jan;40(1):32-4. doi: 10.1038/ng.2007.45. Epub 2007 Dec 23. Nat Genet. 2008. PMID: 18157129

10

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.

Van Maldergem L, Yuksel-Apak M, Kayserili H, Seemanova E, Giurgea S, Basel-Vanagaite L, Leao-Teles E, Vigneron J, Foulon M, Greally M, Jaeken J, Mundlos S, Dobyns WB. Van Maldergem L, et al. Neurology. 2008 Nov 11;71(20):1602-8. doi: 10.1212/01.wnl.0000327822.52212.c7. Epub 2008 Aug 20. Neurology. 2008. PMID: 18716235 Free article.

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