Fryns JP - Search Results

1

Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia) - update 2015.

Orrico A, Galli L, Clayton-Smith J, Fryns JP. Orrico A, et al. Among authors: fryns jp. Eur J Hum Genet. 2015 Apr;23(4). doi: 10.1038/ejhg.2014.178. Epub 2014 Sep 17. Eur J Hum Genet. 2015. PMID: 25227149 Free PMC article. No abstract available.

2

Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia).

Orrico A, Galli L, Clayton-Smith J, Fryns JP. Orrico A, et al. Among authors: fryns jp. Eur J Hum Genet. 2011 Nov;19(11). doi: 10.1038/ejhg.2011.108. Epub 2011 Jun 8. Eur J Hum Genet. 2011. PMID: 21654724 Free PMC article. No abstract available.

3

Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.

Orrico A, Galli L, Cavaliere ML, Garavelli L, Fryns JP, Crushell E, Rinaldi MM, Medeira A, Sorrentino V. Orrico A, et al. Among authors: fryns jp. Eur J Hum Genet. 2004 Jan;12(1):16-23. doi: 10.1038/sj.ejhg.5201081. Eur J Hum Genet. 2004. PMID: 14560308

4

Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.

Kolehmainen J, Wilkinson R, Lehesjoki AE, Chandler K, Kivitie-Kallio S, Clayton-Smith J, Träskelin AL, Waris L, Saarinen A, Khan J, Gross-Tsur V, Traboulsi EI, Warburg M, Fryns JP, Norio R, Black GC, Manson FD. Kolehmainen J, et al. Among authors: fryns jp. Am J Hum Genet. 2004 Jul;75(1):122-7. doi: 10.1086/422197. Epub 2004 May 12. Am J Hum Genet. 2004. PMID: 15141358 Free PMC article.

5

Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.

Kolehmainen J, Black GC, Saarinen A, Chandler K, Clayton-Smith J, Träskelin AL, Perveen R, Kivitie-Kallio S, Norio R, Warburg M, Fryns JP, de la Chapelle A, Lehesjoki AE. Kolehmainen J, et al. Among authors: fryns jp. Am J Hum Genet. 2003 Jun;72(6):1359-69. doi: 10.1086/375454. Epub 2003 May 2. Am J Hum Genet. 2003. PMID: 12730828 Free PMC article.

6

Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region.

Vervoort R, Buist NR, Kleijer WJ, Wevers R, Fryns JP, Liebaers I, Lissens W. Vervoort R, et al. Among authors: fryns jp. Hum Genet. 1997 Apr;99(4):462-8. doi: 10.1007/s004390050389. Hum Genet. 1997. PMID: 9099834

7

Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes.

De Paepe A, Nuytinck L, Raes M, Fryns JP. De Paepe A, et al. Among authors: fryns jp. Hum Genet. 1997 Apr;99(4):478-83. doi: 10.1007/s004390050392. Hum Genet. 1997. PMID: 9099837

8

Parental mosaicism of JAG1 mutations in families with Alagille syndrome.

Giannakudis J, Röpke A, Kujat A, Krajewska-Walasek M, Hughes H, Fryns JP, Bankier A, Amor D, Schlicker M, Hansmann I. Giannakudis J, et al. Among authors: fryns jp. Eur J Hum Genet. 2001 Mar;9(3):209-16. doi: 10.1038/sj.ejhg.5200613. Eur J Hum Genet. 2001. PMID: 11313761

9

Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).

Hagleitner MM, Lankester A, Maraschio P, Hultén M, Fryns JP, Schuetz C, Gimelli G, Davies EG, Gennery A, Belohradsky BH, de Groot R, Gerritsen EJ, Mattina T, Howard PJ, Fasth A, Reisli I, Furthner D, Slatter MA, Cant AJ, Cazzola G, van Dijken PJ, van Deuren M, de Greef JC, van der Maarel SM, Weemaes CM. Hagleitner MM, et al. Among authors: fryns jp. J Med Genet. 2008 Feb;45(2):93-9. doi: 10.1136/jmg.2007.053397. Epub 2007 Sep 24. J Med Genet. 2008. PMID: 17893117

10

Selective advantage of fra (X) heterozygotes.

Vogel F, Crusio WE, Kovac C, Fryns JP, Freund M. Vogel F, et al. Among authors: fryns jp. Hum Genet. 1990 Nov;86(1):25-32. doi: 10.1007/BF00205167. Hum Genet. 1990. PMID: 2147668

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