Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

Autor: Nuno Maia, Nekane Ibarluzea, Mala Misra‐Isrie, Daniel C. Koboldt, Isabel Marques, Gabriela Soares, Rosário Santos, Carlo L. M. Marcelis, Riikka Keski‐Filppula, Miriam Guitart, Elisabeth Gabau Vila, April Lehman, Scott Hickey, Mari Mori, Paulien Terhal, Irene Valenzuela, Amaia Lasa‐Aranzasti, Anna Maria Cueto‐González, Brian H. Chhouk, Rebecca C. Yeh, Jennifer E. Neil, Bassam Abu‐Libde, Tjitske Kleefstra, Mariet W. Elting, Andrea Császár, Judit Kárteszi, Beáta Bessenyei, Hans van Bokhoven, Paula Jorge, Johanna M. van Hagen, Arjan P. M. de Brouwer

Publikováno v: American Journal of Medical Genetics. Part A, 191, 1, pp. 135-143
Scientia
American Journal of Medical Genetics, Part A, 191(1), 135-143. Wiley-Liss Inc.
Maia, N, Ibarluzea, N, Misra-Isrie, M, Koboldt, D C, Marques, I, Soares, G, Santos, R, Marcelis, C L M, Keski-Filppula, R, Guitart, M, Gabau Vila, E, Lehman, A, Hickey, S, Mori, M, Terhal, P, Valenzuela, I, Lasa-Aranzasti, A, Cueto-González, A M, Chhouk, B H, Yeh, R C, Neil, J E, Abu-Libde, B, Kleefstra, T, Elting, M W, Császár, A, Kárteszi, J, Bessenyei, B, van Bokhoven, H, Jorge, P, van Hagen, J M & de Brouwer, A P M 2023, ' Missense MED12 variants in 22 males with intellectual disability : From nonspecific symptoms to complete syndromes ', American Journal of Medical Genetics, Part A, vol. 191, no. 1, pp. 135-143 . https://doi.org/10.1002/ajmg.a.63004
American Journal of Medical Genetics. Part A, 191, 135-143

Genotype; Intellectual disability; Phenotype Genotipo; Discapacidad intelectual; Fenotipo Genotip; Discapacitat intel·lectual; Fenotip We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e786f2ecd8803b730a91f04d46d55226

[Genetic revision of the Hungarian Cystic Fibrosis Registry]

Autor: Anna, Deák, Katalin, Koczok, Beáta, Bessenyei, Zsuzsanna, Szűcs, László, Madar, Gabriella, Csorba, Orsolya, Orosz, István, Laki, Adrien, Halász, Géza, Marsal, István, Balogh

Publikováno v: Orvosi hetilap. 163(51)

Cystic fibrosis (CF) is one of the most common monogenic diseases. Genetic testing is becoming increasingly reasoned to establish or confirm the diagnosis by detecting abnormal mutations.In order to develop a diagnostic strategy for cystic fibrosis a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6da037ce0c8d9bf3ea4c669a1805778b
https://pubmed.ncbi.nlm.nih.gov/36528828

22q13 Microduplication Syndrome in Siblings with Mild Clinical Phenotype: Broadening the Clinical and Behavioral Spectrum

Autor: Ádám J. Borbély, Anikó Ujfalusi, Orsolya Nagy, Györgyi Lente, Katalin Szakszon, Beáta Bessenyei, Irén Kántor

Publikováno v: Mol Syndromol

Distal duplication 22q (22q13.3qter) is a rare condition with only 24 cases described so far. Parental balanced reciprocal translocations and pericentric inversions involving chromosome 22 predispose to the conception of an unbalanced offspring and a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df7b053626c80eeaf582d9236cf5fb46
https://europepmc.org/articles/PMC7445545/

Ritka genetikai betegségek klinikai és genetikai diagnosztikájában szerzett tapasztalataink a kelet-magyarországi régióban (2007–2013)

Autor: Istvan Balogh, Gabriella P. Szabó, Éva Oláh, Beáta Bessenyei, Katalin Szakszon, Erzsébet Balogh, Anikó Ujfalusi

Publikováno v: Orvosi Hetilap. 155:348-357

Bevezetés: A ritka betegségek 80%-a genetikai eredetű, 50%-uk veleszületett rendellenesség formájában manifesztálódik mentális retardációval vagy a nélkül. Ellátásukban a genetikai eltérések korai felismerésére és a prevencióra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca91720531b80035dd5e5f03243e2786
https://doi.org/10.1556/oh.2014.29690

Lissencephaly and Band Heterotopia: LIS1, TUBA1A, and DCX Mutations in Hungary

Autor: Attila Mokánszki, Deborah J. Morris-Rosendahl, Edit Bereg, Gyurgyinka Gergev, Erzsébet Balogh, Ivett Körhegyi, Beáta Bessenyei, Nóra Szabó, Éva Oláh, Andrea Sümegi, László Sztriha

Publikováno v: Journal of Child Neurology. 27:1534-1540

The spectrum of lissencephaly ranges from absent (agyria) or decreased (pachygyria) convolutions to less severe malformation known as subcortical band heterotopia. Mutations involving LIS1 and TUBA1A result in the classic form of lissencephaly, where

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bcef2d6c4f2081495efcdbba064cb82
https://doi.org/10.1177/0883073811436326