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Page 1
Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome.
Stum M, Davoine CS, Vicart S, Guillot-Noël L, Topaloglu H, Carod-Artal FJ, Kayserili H, Hentati F, Merlini L, Urtizberea JA, Hammouda el-H, Quan PC, Fontaine B, Nicole S. Stum M, et al. Among authors: kayserili h. Hum Mutat. 2006 Nov;27(11):1082-91. doi: 10.1002/humu.20388. Hum Mutat. 2006. PMID: 16927315
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group; Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM. Iannicelli M, et al. Hum Mutat. 2010 May;31(5):E1319-31. doi: 10.1002/humu.21239. Hum Mutat. 2010. PMID: 20232449 Free PMC article.
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.
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M, Bodurtha JN, Cox GF, Curry CJ, Day R, Donnai D, Field M, Fujiwara I, Gabbett M, Gal M, Graham JM, Hedera P, Hennekam RC, Hersh JH, Hopkin RJ, Kayserili H, Kidd AM, Kimonis V, Lin AE, Lynch SA, Maisenbacher M, Mansour S, McGaughran J, Mehta L, Murphy H, Raygada M, Robin NH, Rope AF, Rosenbaum KN, Schaefer GB, Shealy A, Smith W, Soller M, Sommer A, Stalker HJ, Steiner B, Stephan MJ, Tilstra D, Tomkins S, Trapane P, Tsai AC, Van Allen MI, Vasudevan PC, Zabel B, Zunich J, Black GC, Biesecker LG. Johnston JJ, et al. Among authors: kayserili h. Hum Mutat. 2010 Oct;31(10):1142-54. doi: 10.1002/humu.21328. Hum Mutat. 2010. PMID: 20672375 Free PMC article.
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
Lüdecke HJ, Schaper J, Meinecke P, Momeni P, Gross S, von Holtum D, Hirche H, Abramowicz MJ, Albrecht B, Apacik C, Christen HJ, Claussen U, Devriendt K, Fastnacht E, Forderer A, Friedrich U, Goodship TH, Greiwe M, Hamm H, Hennekam RC, Hinkel GK, Hoeltzenbein M, Kayserili H, Majewski F, Mathieu M, McLeod R, Midro AT, Moog U, Nagai T, Niikawa N, Orstavik KH, Plöchl E, Seitz C, Schmidtke J, Tranebjaerg L, Tsukahara M, Wittwer B, Zabel B, Gillessen-Kaesbach G, Horsthemke B. Lüdecke HJ, et al. Among authors: kayserili h. Am J Hum Genet. 2001 Jan;68(1):81-91. doi: 10.1086/316926. Epub 2000 Dec 7. Am J Hum Genet. 2001. PMID: 11112658 Free PMC article.
Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling.
Toksoy G, Durmus H, Aghayev A, Bagirova G, Sevinc Rustemoglu B, Basaran S, Avci S, Karaman B, Parman Y, Altunoglu U, Yapici Z, Tekturk P, Deymeer F, Topaloglu H, Kayserili H, Oflazer-Serdaroglu P, Uyguner ZO. Toksoy G, et al. Among authors: kayserili h. Neuromuscul Disord. 2019 Aug;29(8):601-613. doi: 10.1016/j.nmd.2019.03.012. Epub 2019 Mar 28. Neuromuscul Disord. 2019. PMID: 31443951
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.
Czeschik JC, Voigt C, Alanay Y, Albrecht B, Avci S, Fitzpatrick D, Goudie DR, Hehr U, Hoogeboom AJ, Kayserili H, Simsek-Kiper PO, Klein-Hitpass L, Kuechler A, López-González V, Martin M, Rahmann S, Schweiger B, Splitt M, Wollnik B, Lüdecke HJ, Zeschnigk M, Wieczorek D. Czeschik JC, et al. Among authors: kayserili h. Hum Genet. 2013 Aug;132(8):885-98. doi: 10.1007/s00439-013-1295-2. Epub 2013 Apr 9. Hum Genet. 2013. PMID: 23568615
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
276 results