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212 results

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Page 1
CRIM1 haploinsufficiency causes defects in eye development in human and mouse.
Beleggia F, Li Y, Fan J, Elcioğlu NH, Toker E, Wieland T, Maumenee IH, Akarsu NA, Meitinger T, Strom TM, Lang R, Wollnik B. Beleggia F, et al. Among authors: wollnik b. Hum Mol Genet. 2015 Apr 15;24(8):2267-73. doi: 10.1093/hmg/ddu744. Epub 2015 Jan 5. Hum Mol Genet. 2015. PMID: 25561690 Free PMC article.
Mutations in different components of FGF signaling in LADD syndrome.
Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nürnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers CW, Yüksel-Apak M, Nürnberg P, Kubisch C, Schlessinger J, van Bokhoven H, Wollnik B. Rohmann E, et al. Among authors: wollnik b. Nat Genet. 2006 Apr;38(4):414-7. doi: 10.1038/ng1757. Epub 2006 Feb 26. Nat Genet. 2006. PMID: 16501574
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
Kalay E, Li Y, Uzumcu A, Uyguner O, Collin RW, Caylan R, Ulubil-Emiroglu M, Kersten FF, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot LH, Strom TM, Nürnberg G, Baserer N, den Hollander AI, Cremers FP, Cremers CW, Becker C, Brunner HG, Nürnberg P, Karaguzel A, Basaran S, Kubisch C, Kremer H, Wollnik B. Kalay E, et al. Among authors: wollnik b. Hum Mutat. 2006 Jul;27(7):633-9. doi: 10.1002/humu.20368. Hum Mutat. 2006. PMID: 16752389
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.
Collin RW, Kalay E, Oostrik J, Caylan R, Wollnik B, Arslan S, den Hollander AI, Birinci Y, Lichtner P, Strom TM, Toraman B, Hoefsloot LH, Cremers CW, Brunner HG, Cremers FP, Karaguzel A, Kremer H. Collin RW, et al. Among authors: wollnik b. Hum Mutat. 2007 Jul;28(7):718-23. doi: 10.1002/humu.20510. Hum Mutat. 2007. PMID: 17373699
Extended genetic analysis of BTNL2 in sarcoidosis.
Li Y, Pabst S, Lokhande S, Grohé C, Wollnik B. Li Y, et al. Among authors: wollnik b. Tissue Antigens. 2009 Jan;73(1):59-61. doi: 10.1111/j.1399-0039.2008.01180.x. Tissue Antigens. 2009. PMID: 19140834
ALX4 dysfunction disrupts craniofacial and epidermal development.
Kayserili H, Uz E, Niessen C, Vargel I, Alanay Y, Tuncbilek G, Yigit G, Uyguner O, Candan S, Okur H, Kaygin S, Balci S, Mavili E, Alikasifoglu M, Haase I, Wollnik B, Akarsu NA. Kayserili H, et al. Among authors: wollnik b. Hum Mol Genet. 2009 Nov 15;18(22):4357-66. doi: 10.1093/hmg/ddp391. Epub 2009 Aug 19. Hum Mol Genet. 2009. PMID: 19692347
A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb.
Wieczorek D, Pawlik B, Li Y, Akarsu NA, Caliebe A, May KJ, Schweiger B, Vargas FR, Balci S, Gillessen-Kaesbach G, Wollnik B. Wieczorek D, et al. Among authors: wollnik b. Hum Mutat. 2010 Jan;31(1):81-9. doi: 10.1002/humu.21142. Hum Mutat. 2010. PMID: 19847792
212 results