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Page 1
Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders.
Nøstvik M, Kateta SM, Schönewolf-Greulich B, Afenjar A, Barth M, Boschann F, Doummar D, Haack TB, Keren B, Livshits LA, Mei D, Park J, Pisano T, Prouteau C, Umair M, Waqas A, Ziegler A, Guerrini R, Møller RS, Tümer Z. Nøstvik M, et al. Among authors: livshits la. Clin Genet. 2021 Nov;100(5):628-633. doi: 10.1111/cge.14051. Epub 2021 Aug 31. Clin Genet. 2021. PMID: 34415064
A conserved function of Human DLC3 and Drosophila Cv-c in testis development.
Sotillos S, von der Decken I, Domenech Mercadé I, Srinivasan S, Sirokha D, Livshits L, Vanni S, Nef S, Biason-Lauber A, Rodríguez Gutiérrez D, Castelli-Gair Hombría J. Sotillos S, et al. Among authors: livshits l. Elife. 2022 Nov 3;11:e82343. doi: 10.7554/eLife.82343. Elife. 2022. PMID: 36326091 Free PMC article.
Mutations in STARD8 (DLC3) may cause 46,XY gonadal dysgenesis.
Sirokha D, Rayevsky A, Gorodna O, Kalynovskyi V, Zelinska N, Samson O, Kwiatkowska K, Nef S, Jaruzelska J, Kusz-Zamelczyk K, Livshits L. Sirokha D, et al. Among authors: livshits l. Sex Dev. 2024 Mar 6. doi: 10.1159/000537877. Online ahead of print. Sex Dev. 2024. PMID: 38447543
Toward male individualization with rapidly mutating y-chromosomal short tandem repeats.
Ballantyne KN, Ralf A, Aboukhalid R, Achakzai NM, Anjos MJ, Ayub Q, Balažic J, Ballantyne J, Ballard DJ, Berger B, Bobillo C, Bouabdellah M, Burri H, Capal T, Caratti S, Cárdenas J, Cartault F, Carvalho EF, Carvalho M, Cheng B, Coble MD, Comas D, Corach D, D'Amato ME, Davison S, de Knijff P, De Ungria MC, Decorte R, Dobosz T, Dupuy BM, Elmrghni S, Gliwiński M, Gomes SC, Grol L, Haas C, Hanson E, Henke J, Henke L, Herrera-Rodríguez F, Hill CR, Holmlund G, Honda K, Immel UD, Inokuchi S, Jobling MA, Kaddura M, Kim JS, Kim SH, Kim W, King TE, Klausriegler E, Kling D, Kovačević L, Kovatsi L, Krajewski P, Kravchenko S, Larmuseau MH, Lee EY, Lessig R, Livshits LA, Marjanović D, Minarik M, Mizuno N, Moreira H, Morling N, Mukherjee M, Munier P, Nagaraju J, Neuhuber F, Nie S, Nilasitsataporn P, Nishi T, Oh HH, Olofsson J, Onofri V, Palo JU, Pamjav H, Parson W, Petlach M, Phillips C, Ploski R, Prasad SP, Primorac D, Purnomo GA, Purps J, Rangel-Villalobos H, Rębała K, Rerkamnuaychoke B, Gonzalez DR, Robino C, Roewer L, Rosa A, Sajantila A, Sala A, Salvador JM, Sanz P, Schmitt C, Sharma AK, Silva DA, Shin KJ, Sijen T, Sirker M, Siváková D, Skaro V, Solano-Matamoros C, Souto L, Stenzl V,… See abstract for full author list ➔ Ballantyne KN, et al. Among authors: livshits la. Hum Mutat. 2014 Aug;35(8):1021-32. doi: 10.1002/humu.22599. Epub 2014 Jul 14. Hum Mutat. 2014. PMID: 24917567 Free PMC article.
12 results