Pals G - Search Results

1

Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene.

Mátyás G, De Paepe A, Halliday D, Boileau C, Pals G, Steinmann B. Mátyás G, et al. Among authors: pals g. Hum Mutat. 2002 Apr;19(4):443-56. doi: 10.1002/humu.10054. Hum Mutat. 2002. PMID: 11933199

2

Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.

Loeys B, De Backer J, Van Acker P, Wettinck K, Pals G, Nuytinck L, Coucke P, De Paepe A. Loeys B, et al. Among authors: pals g. Hum Mutat. 2004 Aug;24(2):140-6. doi: 10.1002/humu.20070. Hum Mutat. 2004. PMID: 15241795

3

Variability of aortic stiffness is not associated with the fibrillin 1 genotype in patients with Marfan's syndrome.

De Backer J, Nollen GJ, Devos D, Pals G, Coucke P, Verstraete K, van der Wall EE, De Paepe A, Mulder BJ. De Backer J, et al. Among authors: pals g. Heart. 2006 Jul;92(7):977-8. doi: 10.1136/hrt.2005.071720. Heart. 2006. PMID: 16775108 Free PMC article. No abstract available.

4

Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.

van de Laar IM, van der Linde D, Oei EH, Bos PK, Bessems JH, Bierma-Zeinstra SM, van Meer BL, Pals G, Oldenburg RA, Bekkers JA, Moelker A, de Graaf BM, Matyas G, Frohn-Mulder IM, Timmermans J, Hilhorst-Hofstee Y, Cobben JM, Bruggenwirth HT, van Laer L, Loeys B, De Backer J, Coucke PJ, Dietz HC, Willems PJ, Oostra BA, De Paepe A, Roos-Hesselink JW, Bertoli-Avella AM, Wessels MW. van de Laar IM, et al. Among authors: pals g. J Med Genet. 2012 Jan;49(1):47-57. doi: 10.1136/jmedgenet-2011-100382. J Med Genet. 2012. PMID: 22167769

5

Validation of a quantitative PCR-high-resolution melting protocol for simultaneous screening of COL1A1 and COL1A2 point mutations and large rearrangements: application for diagnosis of osteogenesis imperfecta.

Gentile FV, Zuntini M, Parra A, Battistelli L, Pandolfi M, Pals G, Sangiorgi L. Gentile FV, et al. Among authors: pals g. Hum Mutat. 2012 Dec;33(12):1697-707. doi: 10.1002/humu.22146. Epub 2012 Jul 18. Hum Mutat. 2012. PMID: 22753364

6

Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome.

de Vries BB, Pals G, Odink R, Hamel BC. de Vries BB, et al. Among authors: pals g. Eur J Hum Genet. 2007 Sep;15(9):930-5. doi: 10.1038/sj.ejhg.5201865. Epub 2007 Jun 13. Eur J Hum Genet. 2007. PMID: 17568394

7

Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.

Klaassens M, Reinstein E, Hilhorst-Hofstee Y, Schrander JJ, Malfait F, Staal H, ten Have LC, Blaauw J, Roggeveen HC, Krakow D, De Paepe A, van Steensel MA, Pals G, Graham JM Jr, Schrander-Stumpel CT. Klaassens M, et al. Among authors: pals g. Clin Genet. 2012 Aug;82(2):121-30. doi: 10.1111/j.1399-0004.2011.01758.x. Epub 2011 Aug 24. Clin Genet. 2012. PMID: 21801164 Free PMC article.

8

Clinical, pathological and molecular genetic findings in a case of neonatal Marfan syndrome.

Bresters D, Nikkels PG, Meijboom EJ, Hoorntje TM, Pals G, Beemer FA. Bresters D, et al. Among authors: pals g. Acta Paediatr. 1999 Jan;88(1):98-101. doi: 10.1080/08035259950170691. Acta Paediatr. 1999. PMID: 10090557

9

Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia.

Yates J, Keeble W, Pals G, Ameziane N, van Spaendonk R, Olson S, Akkari Y, Pasquini R, Bagby G. Yates J, et al. Among authors: pals g. Hum Mutat. 2006 Feb;27(2):214. doi: 10.1002/humu.9402. Hum Mutat. 2006. PMID: 16429406

10

Genetic subtyping of Fanconi anemia by comprehensive mutation screening.

Ameziane N, Errami A, Léveillé F, Fontaine C, de Vries Y, van Spaendonk RM, de Winter JP, Pals G, Joenje H. Ameziane N, et al. Among authors: pals g. Hum Mutat. 2008 Jan;29(1):159-66. doi: 10.1002/humu.20625. Hum Mutat. 2008. PMID: 17924555

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