Kayserili H - Search Results

1

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.

van Bokhoven H, Celli J, Kayserili H, van Beusekom E, Balci S, Brussel W, Skovby F, Kerr B, Percin EF, Akarsu N, Brunner HG. van Bokhoven H, et al. Among authors: kayserili h. Nat Genet. 2000 Aug;25(4):423-6. doi: 10.1038/78113. Nat Genet. 2000. PMID: 10932187

2

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

van Bokhoven H, Hamel BC, Bamshad M, Sangiorgi E, Gurrieri F, Duijf PH, Vanmolkot KR, van Beusekom E, van Beersum SE, Celli J, Merkx GF, Tenconi R, Fryns JP, Verloes A, Newbury-Ecob RA, Raas-Rotschild A, Majewski F, Beemer FA, Janecke A, Chitayat D, Crisponi G, Kayserili H, Yates JR, Neri G, Brunner HG. van Bokhoven H, et al. Among authors: kayserili h. Am J Hum Genet. 2001 Sep;69(3):481-92. doi: 10.1086/323123. Epub 2001 Jul 17. Am J Hum Genet. 2001. PMID: 11462173 Free PMC article.

3

De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype.

Roifman M, Marcelis CL, Paton T, Marshall C, Silver R, Lohr JL, Yntema HG, Venselaar H, Kayserili H, van Bon B, Seaward G; FORGE Canada Consortium; Brunner HG, Chitayat D. Roifman M, et al. Among authors: kayserili h. Clin Genet. 2015;87(1):34-41. doi: 10.1111/cge.12401. Epub 2014 May 24. Clin Genet. 2015. PMID: 24716670

4

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.

Vega H, Trainer AH, Gordillo M, Crosier M, Kayserili H, Skovby F, Uzielli ML, Schnur RE, Manouvrier S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Hennekam RC, Jabs EW. Vega H, et al. Among authors: kayserili h. J Med Genet. 2010 Jan;47(1):30-7. doi: 10.1136/jmg.2009.068395. Epub 2009 Jul 1. J Med Genet. 2010. PMID: 19574259

5

Unusual molecular findings in autosomal recessive spinal muscular atrophy.

Matthijs G, Schollen E, Legius E, Devriendt K, Goemans N, Kayserili H, Apäk MY, Cassiman JJ. Matthijs G, et al. Among authors: kayserili h. J Med Genet. 1996 Jun;33(6):469-74. doi: 10.1136/jmg.33.6.469. J Med Genet. 1996. PMID: 8782046 Free PMC article.

6

SUBMICROSCOPIC DUPLICATION OF 8q24.3 REGION IS A POTENTIAL CANDIDATE FOR DISORDERS OF SEX DEVELOPMENT.

Dilek FN, Perçin EF, Kayserili H, Ergün MA, Saka N. Dilek FN, et al. Among authors: kayserili h. Genet Couns. 2016;27(3):385-392. Genet Couns. 2016. PMID: 30204968

7

A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter.

Tukel T, Uzumcu A, Gezer A, Kayserili H, Yuksel-Apak M, Uyguner O, Gultekin SH, Hennies HC, Nurnberg P, Desnick RJ, Wollnik B. Tukel T, et al. Among authors: kayserili h. J Med Genet. 2005 May;42(5):408-15. doi: 10.1136/jmg.2004.026138. J Med Genet. 2005. PMID: 15863670 Free PMC article.

8

A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3.

Uyguner O, Kayserili H, Li Y, Karaman B, Nürnberg G, Hennies H, Becker C, Nürnberg P, Başaran S, Apak MY, Wollnik B. Uyguner O, et al. Among authors: kayserili h. Clin Genet. 2007 Mar;71(3):212-9. doi: 10.1111/j.1399-0004.2007.00762.x. Clin Genet. 2007. PMID: 17309643

9

Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9.

Demuth I, Wlodarski M, Tipping AJ, Morgan NV, de Winter JP, Thiel M, Gräsl S, Schindler D, D'Andrea AD, Altay C, Kayserili H, Zatterale A, Kunze J, Ebell W, Mathew CG, Joenje H, Sperling K, Digweed M. Demuth I, et al. Among authors: kayserili h. Eur J Hum Genet. 2000 Nov;8(11):861-8. doi: 10.1038/sj.ejhg.5200552. Eur J Hum Genet. 2000. PMID: 11093276

10

Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation.

Nuytinck L, Tükel T, Kayserili H, Apak MY, De Paepe A. Nuytinck L, et al. Among authors: kayserili h. J Med Genet. 2000 May;37(5):371-5. doi: 10.1136/jmg.37.5.371. J Med Genet. 2000. PMID: 10807697 Free PMC article.

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