Li Y - Search Results

1

Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.

Yigit G, Sheffer R, Daana M, Li Y, Kaygusuz E, Mor-Shakad H, Altmüller J, Nürnberg P, Douiev L, Kaulfuss S, Burfeind P, Wollnik B, Brockmann K. Yigit G, et al. Among authors: li y. J Med Genet. 2022 Jun;59(6):549-553. doi: 10.1136/jmedgenet-2021-107769. Epub 2021 Jun 25. J Med Genet. 2022. PMID: 34172529 Free PMC article.

2

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: li y. Nat Genet. 2006 Apr;38(4):414-7. doi: 10.1038/ng1757. Epub 2006 Feb 26. Nat Genet. 2006. PMID: 16501574

3

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: li y. Hum Mutat. 2006 Jul;27(7):633-9. doi: 10.1002/humu.20368. Hum Mutat. 2006. PMID: 16752389

4

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: li y. Clin Genet. 2007 Mar;71(3):212-9. doi: 10.1111/j.1399-0004.2007.00762.x. Clin Genet. 2007. PMID: 17309643

5

Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C.

Boulouiz R, Li Y, Abidi O, Bolz H, Chafik A, Kubisch C, Roub H, Wollnik B, Barakat A. Boulouiz R, et al. Among authors: li y. Mol Vis. 2007 Oct 2;13:1862-5. Mol Vis. 2007. PMID: 17960123

6

A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.

Boulouiz R, Li Y, Soualhine H, Abidi O, Chafik A, Nürnberg G, Becker C, Nürnberg P, Kubisch C, Wollnik B, Barakat A. Boulouiz R, et al. Among authors: li y. Am J Med Genet A. 2008 Dec 1;146A(23):3086-9. doi: 10.1002/ajmg.a.32525. Am J Med Genet A. 2008. PMID: 18973245 No abstract available.

7

Extended genetic analysis of BTNL2 in sarcoidosis.

Li Y, Pabst S, Lokhande S, Grohé C, Wollnik B. Li Y, et al. Tissue Antigens. 2009 Jan;73(1):59-61. doi: 10.1111/j.1399-0039.2008.01180.x. Tissue Antigens. 2009. PMID: 19140834

8

Pontocerebellar hypoplasia type III (CLAM): extended phenotype and novel molecular findings.

Durmaz B, Wollnik B, Cogulu O, Li Y, Tekgul H, Hazan F, Ozkinay F. Durmaz B, et al. Among authors: li y. J Neurol. 2009 Mar;256(3):416-9. doi: 10.1007/s00415-009-0094-0. Epub 2009 Mar 14. J Neurol. 2009. PMID: 19277761

9

Mutations in PYCR1 cause cutis laxa with progeroid features.

Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Schmidt-von Kegler M, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Hausser I, Budde B, Nürnberg G, Nürnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U. Reversade B, et al. Among authors: li y. Nat Genet. 2009 Sep;41(9):1016-21. doi: 10.1038/ng.413. Epub 2009 Aug 2. Nat Genet. 2009. PMID: 19648921

10

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.

Li Y, Pohl E, Boulouiz R, Schraders M, Nürnberg G, Charif M, Admiraal RJ, von Ameln S, Baessmann I, Kandil M, Veltman JA, Nürnberg P, Kubisch C, Barakat A, Kremer H, Wollnik B. Li Y, et al. Am J Hum Genet. 2010 Mar 12;86(3):479-84. doi: 10.1016/j.ajhg.2010.02.003. Epub 2010 Feb 18. Am J Hum Genet. 2010. PMID: 20170898 Free PMC article.

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