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Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Škorić-Milosavljević D, Lahrouchi N, Bosada FM, Dombrowsky G, Williams SG, Lesurf R, Tjong FVY, Walsh R, El Bouchikhi I, Breckpot J, Audain E, Ilgun A, Beekman L, Ratbi I, Strong A, Muenke M, Heide S, Muir AM, Hababa M, Cross L, Zhou D, Pastinen T; German Competence Network for Congenital Heart Defects; Zackai E, Atmani S, Ouldim K, Adadi N, Steindl K, Rauch A, Brook D, Wilsdon A, Kuipers I, Blom NA, Mulder BJ, Mefford HC, Keren B, Joset P, Kruszka P, Thiffault I, Sheppard SE, Roberts A, Lodder EM, Keavney BD, Clur SB, Mital S, Hitz MP, Christoffels VM, Postma AV, Bezzina CR. Škorić-Milosavljević D, et al. Among authors: ratbi i. Genet Med. 2021 Oct;23(10):2013. doi: 10.1038/s41436-021-01279-7. Genet Med. 2021. PMID: 34522030 Free PMC article. No abstract available.
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
Lodder EM, De Nittis P, Koopman CD, Wiszniewski W, Moura de Souza CF, Lahrouchi N, Guex N, Napolioni V, Tessadori F, Beekman L, Nannenberg EA, Boualla L, Blom NA, de Graaff W, Kamermans M, Cocciadiferro D, Malerba N, Mandriani B, Akdemir ZHC, Fish RJ, Eldomery MK, Ratbi I, Wilde AAM, de Boer T, Simonds WF, Neerman-Arbez M, Sutton VR, Kok F, Lupski JR, Reymond A, Bezzina CR, Bakkers J, Merla G. Lodder EM, et al. Among authors: ratbi i. Am J Hum Genet. 2016 Sep 1;99(3):704-710. doi: 10.1016/j.ajhg.2016.06.025. Epub 2016 Aug 11. Am J Hum Genet. 2016. PMID: 27523599 Free PMC article.
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
Lodder EM, De Nittis P, Koopman CD, Wiszniewski W, Moura de Souza CF, Lahrouchi N, Guex N, Napolioni V, Tessadori F, Beekman L, Nannenberg EA, Boualla L, Blom NA, de Graaff W, Kamermans M, Cocciadiferro D, Malerba N, Mandriani B, Coban Akdemir ZH, Fish RJ, Eldomery MK, Ratbi I, Wilde AAM, de Boer T, Simonds WF, Neerman-Arbez M, Sutton VR, Kok F, Lupski JR, Reymond A, Bezzina CR, Bakkers J, Merla G. Lodder EM, et al. Among authors: ratbi i. Am J Hum Genet. 2016 Sep 1;99(3):786. doi: 10.1016/j.ajhg.2016.08.011. Epub 2016 Sep 1. Am J Hum Genet. 2016. PMID: 27588455 Free PMC article. No abstract available.
Inherited dilated cardiomyopathy in a large Moroccan family caused by LMNA mutation.
Adadi N, Radi FZ, Lahrouchi N, Hara L, Ratbi I, Elalaoui SC, Alders M, Zarzur J, Bezzina C, Sefiani A. Adadi N, et al. Among authors: ratbi i. Anatol J Cardiol. 2018 Jul;20(1):65-68. doi: 10.14744/AnatolJCardiol.2018.69639. Anatol J Cardiol. 2018. PMID: 29952368 Free PMC article. No abstract available.
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly.
Lahrouchi N, George A, Ratbi I, Schneider R, Elalaoui SC, Moosa S, Bharti S, Sharma R, Abu-Asab M, Onojafe F, Adadi N, Lodder EM, Laarabi FZ, Lamsyah Y, Elorch H, Chebbar I, Postma AV, Lougaris V, Plebani A, Altmueller J, Kyrieleis H, Meiner V, McNeill H, Bharti K, Lyonnet S, Wollnik B, Henrion-Caude A, Berraho A, Hildebrandt F, Bezzina CR, Brooks BP, Sefiani A. Lahrouchi N, et al. Among authors: ratbi i. Nat Commun. 2019 Mar 12;10(1):1180. doi: 10.1038/s41467-019-08547-w. Nat Commun. 2019. PMID: 30862798 Free PMC article.
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Škorić-Milosavljević D, Lahrouchi N, Bosada FM, Dombrowsky G, Williams SG, Lesurf R, Tjong FVY, Walsh R, El Bouchikhi I, Breckpot J, Audain E, Ilgun A, Beekman L, Ratbi I, Strong A, Muenke M, Heide S, Muir AM, Hababa M, Cross L, Zhou D, Pastinen T; German Competence Network for Congenital Heart Defects; Zackai E, Atmani S, Ouldim K, Adadi N, Steindl K, Rauch A, Brook D, Wilsdon A, Kuipers I, Blom NA, Mulder BJ, Mefford HC, Keren B, Joset P, Kruszka P, Thiffault I, Sheppard SE, Roberts A, Lodder EM, Keavney BD, Clur SB, Mital S, Hitz MP, Christoffels VM, Postma AV, Bezzina CR. Škorić-Milosavljević D, et al. Among authors: ratbi i. Genet Med. 2021 Oct;23(10):1952-1960. doi: 10.1038/s41436-021-01212-y. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113005 Free PMC article.
66 results