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Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.
Am J Hum Genet. 2021 Jun 3;108(6):1126-1137. doi: 10.1016/j.ajhg.2021.04.020. Epub 2021 May 18.
Am J Hum Genet. 2021.
PMID: 34010604
Free PMC article.
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia.
Kariminejad A, Szenker-Ravi E, Lekszas C, Tajsharghi H, Moslemi AR, Naert T, Tran HT, Ahangari F, Rajaei M, Nasseri M, Haaf T, Azad A, Superti-Furga A, Maroofian R, Ghaderi-Sohi S, Najmabadi H, Abbaszadegan MR, Vleminckx K, Nikuei P, Reversade B.
Kariminejad A, et al. Among authors: lekszas c.
Am J Hum Genet. 2019 Dec 5;105(6):1294-1301. doi: 10.1016/j.ajhg.2019.10.013. Epub 2019 Nov 21.
Am J Hum Genet. 2019.
PMID: 31761294
Free PMC article.
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Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report.
Lekszas C, Nanda I, Vona B, Böck J, Ashrafzadeh F, Donyadideh N, Ebrahimzadeh F, Ahangari N, Maroofian R, Karimiani EG, Haaf T.
Lekszas C, et al.
BMC Med Genomics. 2019 Jun 7;12(1):83. doi: 10.1186/s12920-019-0539-y.
BMC Med Genomics. 2019.
PMID: 31174542
Free PMC article.
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SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.
Dubail J, Huber C, Chantepie S, Sonntag S, Tüysüz B, Mihci E, Gordon CT, Steichen-Gersdorf E, Amiel J, Nur B, Stolte-Dijkstra I, van Eerde AM, van Gassen KL, Breugem CC, Stegmann A, Lekszas C, Maroofian R, Karimiani EG, Bruneel A, Seta N, Munnich A, Papy-Garcia D, De La Dure-Molla M, Cormier-Daire V.
Dubail J, et al. Among authors: lekszas c.
Nat Commun. 2018 Aug 6;9(1):3087. doi: 10.1038/s41467-018-05191-8.
Nat Commun. 2018.
PMID: 30082715
Free PMC article.
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Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion.
Lekszas C, Foresti O, Raote I, Liedtke D, König EM, Nanda I, Vona B, De Coster P, Cauwels R, Malhotra V, Haaf T.
Lekszas C, et al.
Elife. 2020 Feb 26;9:e51319. doi: 10.7554/eLife.51319.
Elife. 2020.
PMID: 32101163
Free PMC article.
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Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family.
Vona B, Maroofian R, Mendiratta G, Croken M, Peng S, Ye X, Rezazadeh J, Bahena P, Lekszas C, Haaf T, Edelmann L, Shi L.
Vona B, et al. Among authors: lekszas c.
Mol Syndromol. 2017 Dec;9(1):5-14. doi: 10.1159/000480458. Epub 2017 Sep 22.
Mol Syndromol. 2017.
PMID: 29456477
Free PMC article.
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Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome.
Koparir A, Lekszas C, Keseroglu K, Rose T, Rappl L, Rad A, Maroofian R, Narendran N, Hasanzadeh A, Karimiani EG, Boschann F, Kornak U, Klopocki E, Özbudak EM, Vona B, Haaf T, Liedtke D.
Koparir A, et al. Among authors: lekszas c.
Hum Genomics. 2024 Mar 6;18(1):23. doi: 10.1186/s40246-024-00593-w.
Hum Genomics. 2024.
PMID: 38448978
Free PMC article.
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