Zerres K - Search Results

1

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.

Nizon M, Huber C, De Leonardis F, Merrina R, Forlino A, Fradin M, Tuysuz B, Abu-Libdeh BY, Alanay Y, Albrecht B, Al-Gazali L, Basaran SY, Clayton-Smith J, Désir J, Gill H, Greally MT, Koparir E, van Maarle MC, MacKay S, Mortier G, Morton J, Sillence D, Vilain C, Young I, Zerres K, Le Merrer M, Munnich A, Le Goff C, Rossi A, Cormier-Daire V. Nizon M, et al. Among authors: zerres k. Hum Mutat. 2012 Aug;33(8):1261-6. doi: 10.1002/humu.22104. Epub 2012 May 22. Hum Mutat. 2012. PMID: 22539336 Free PMC article.

2

Clinical and genetic heterogeneity in Desbuquois dysplasia.

Faivre L, Le Merrer M, Zerres K, Ben Hariz M, Scheffer D, Young ID, Maroteaux P, Munnich A, Cormier-Daire V. Faivre L, et al. Among authors: zerres k. Am J Med Genet A. 2004 Jul 1;128A(1):29-32. doi: 10.1002/ajmg.a.30042. Am J Med Genet A. 2004. PMID: 15211652

3

Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.

Morin G, Bruechle NO, Singh AR, Knopp C, Jedraszak G, Elbracht M, Brémond-Gignac D, Hartmann K, Sevestre H, Deutz P, Hérent D, Nürnberg P, Roméo B, Konrad K, Mathieu-Dramard M, Oldenburg J, Bourges-Petit E, Shen Y, Zerres K, Ouadid-Ahidouch H, Rochette J. Morin G, et al. Among authors: zerres k. Hum Mutat. 2014 Oct;35(10):1221-32. doi: 10.1002/humu.22621. Hum Mutat. 2014. PMID: 25044882

4

Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.

Frank V, Ortiz Brüchle N, Mager S, Frints SG, Bohring A, du Bois G, Debatin I, Seidel H, Senderek J, Besbas N, Todt U, Kubisch C, Grimm T, Teksen F, Balci S, Zerres K, Bergmann C. Frank V, et al. Among authors: zerres k. Hum Mutat. 2007 Jun;28(6):638-9. doi: 10.1002/humu.9496. Hum Mutat. 2007. PMID: 17437276

5

Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.

Frank V, den Hollander AI, Brüchle NO, Zonneveld MN, Nürnberg G, Becker C, Du Bois G, Kendziorra H, Roosing S, Senderek J, Nürnberg P, Cremers FP, Zerres K, Bergmann C. Frank V, et al. Among authors: zerres k. Hum Mutat. 2008 Jan;29(1):45-52. doi: 10.1002/humu.20614. Hum Mutat. 2008. PMID: 17705300

6

PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).

Bergmann C, Senderek J, Schneider F, Dornia C, Küpper F, Eggermann T, Rudnik-Schöneborn S, Kirfel J, Moser M, Büttner R, Zerres K. Bergmann C, et al. Among authors: zerres k. Hum Mutat. 2004 May;23(5):487-95. doi: 10.1002/humu.20019. Hum Mutat. 2004. PMID: 15108281

7

Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).

Bergmann C, Küpper F, Dornia C, Schneider F, Senderek J, Zerres K. Bergmann C, et al. Among authors: zerres k. Hum Mutat. 2005 Mar;25(3):225-31. doi: 10.1002/humu.20145. Hum Mutat. 2005. PMID: 15706593 Review.

8

Genetic heterogeneity in Italian families with IgA nephropathy: suggestive linkage for two novel IgA nephropathy loci.

Bisceglia L, Cerullo G, Forabosco P, Torres DD, Scolari F, Di Perna M, Foramitti M, Amoroso A, Bertok S, Floege J, Mertens PR, Zerres K, Alexopoulos E, Kirmizis D, Ermelinda M, Zelante L, Schena FP; European IgAN Consortium. Bisceglia L, et al. Among authors: zerres k. Am J Hum Genet. 2006 Dec;79(6):1130-4. doi: 10.1086/510135. Epub 2006 Nov 3. Am J Hum Genet. 2006. PMID: 17186473 Free PMC article.

9

A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches.

Eggermann T, Eggermann K, Elbracht M, Zerres K, Rudnik-Schöneborn S. Eggermann T, et al. Among authors: zerres k. Neuromuscul Disord. 2008 Feb;18(2):146-9. doi: 10.1016/j.nmd.2007.10.003. Epub 2007 Dec 21. Neuromuscul Disord. 2008. PMID: 18155522

10

Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings.

Elbracht M, Senderek J, Eggermann T, Thürmer C, Park J, Westhofen M, Zerres K. Elbracht M, et al. Among authors: zerres k. J Med Genet. 2007 Jun;44(6):e81. doi: 10.1136/jmg.2007.049122. J Med Genet. 2007. PMID: 17551081 Free PMC article.

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