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Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.
Neuser S, Krey I, Schwan A, Abou Jamra R, Bartolomaeus T, Döring J, Syrbe S, Plassmann M, Rohde S, Roth C, Rehder H, Radtke M, Le Duc D, Schubert S, Bermúdez-Guzmán L, Leal A, Schoner K, Popp B. Neuser S, et al. Among authors: leal a. Eur J Hum Genet. 2022 Jan;30(1):101-110. doi: 10.1038/s41431-021-00982-y. Epub 2021 Oct 25. Eur J Hum Genet. 2022. PMID: 34697416 Free PMC article.
Mutational survivorship bias: The case of PNKP.
Bermúdez-Guzmán L, Jimenez-Huezo G, Arguedas A, Leal A. Bermúdez-Guzmán L, et al. Among authors: leal a. PLoS One. 2020 Dec 17;15(12):e0237682. doi: 10.1371/journal.pone.0237682. eCollection 2020. PLoS One. 2020. PMID: 33332469 Free PMC article.
Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.
Smogavec M, Cleall A, Hoyer J, Lederer D, Nassogne MC, Palmer EE, Deprez M, Benoit V, Maystadt I, Noakes C, Leal A, Shaw M, Gecz J, Raymond L, Reis A, Shears D, Brockmann K, Zweier C. Smogavec M, et al. Among authors: leal a. J Med Genet. 2016 Dec;53(12):820-827. doi: 10.1136/jmedgenet-2016-103880. Epub 2016 Jul 20. J Med Genet. 2016. PMID: 27439707
Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family.
Leal A, Berghoff C, Berghoff M, Del Valle G, Contreras C, Montoya O, Hernández E, Barrantes R, Schlötzer-Schrehardt U, Neundörfer B, Reis A, Rautenstrauss B, Heuss D. Leal A, et al. Neurogenetics. 2003 Aug;4(4):191-7. doi: 10.1007/s10048-003-0153-0. Epub 2003 Jul 5. Neurogenetics. 2003. PMID: 12845552 Free article.
744 results