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427 results

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Page 1
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.
Schröder S, Li Y, Yigit G, Altmüller J, Bader I, Bevot A, Biskup S, Dreha-Kulaczewski S, Christoph Korenke G, Kottke R, Mayr JA, Preisel M, Toelle SP, Wente-Schulz S, Wortmann SB, Hahn H, Boltshauser E, Uhmann A, Wollnik B, Brockmann K. Schröder S, et al. Among authors: brockmann k. Genet Med. 2021 Feb;23(2):341-351. doi: 10.1038/s41436-020-00979-w. Epub 2020 Oct 7. Genet Med. 2021. PMID: 33024317 Free PMC article.
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinling M, Voit T, Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F. Budde BS, et al. Among authors: brockmann k. Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204. Nat Genet. 2008. PMID: 18711368
CHARGE and Kabuki syndromes: a phenotypic and molecular link.
Schulz Y, Freese L, Mänz J, Zoll B, Völter C, Brockmann K, Bögershausen N, Becker J, Wollnik B, Pauli S. Schulz Y, et al. Among authors: brockmann k. Hum Mol Genet. 2014 Aug 15;23(16):4396-405. doi: 10.1093/hmg/ddu156. Epub 2014 Apr 4. Hum Mol Genet. 2014. PMID: 24705355
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: brockmann k. 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
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.
Mitter D, Pringsheim M, Kaulisch M, Plümacher KS, Schröder S, Warthemann R, Abou Jamra R, Baethmann M, Bast T, Büttel HM, Cohen JS, Conover E, Courage C, Eger A, Fatemi A, Grebe TA, Hauser NS, Heinritz W, Helbig KL, Heruth M, Huhle D, Höft K, Karch S, Kluger G, Korenke GC, Lemke JR, Lutz RE, Patzer S, Prehl I, Hoertnagel K, Ramsey K, Rating T, Rieß A, Rohena L, Schimmel M, Westman R, Zech FM, Zoll B, Malzahn D, Zirn B, Brockmann K. Mitter D, et al. Among authors: brockmann k. Genet Med. 2018 Jan;20(1):98-108. doi: 10.1038/gim.2017.75. Epub 2017 Jun 29. Genet Med. 2018. PMID: 28661489 Free article.
Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.
Yigit G, Sheffer R, Daana M, Li Y, Kaygusuz E, Mor-Shakad H, Altmüller J, Nürnberg P, Douiev L, Kaulfuss S, Burfeind P, Wollnik B, Brockmann K. Yigit G, et al. Among authors: brockmann k. J Med Genet. 2022 Jun;59(6):549-553. doi: 10.1136/jmedgenet-2021-107769. Epub 2021 Jun 25. J Med Genet. 2022. PMID: 34172529 Free PMC article.
Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?
Shoukier M, Klein N, Auber B, Wickert J, Schröder J, Zoll B, Burfeind P, Bartels I, Alsat EA, Lingen M, Grzmil P, Schulze S, Keyser J, Weise D, Borchers M, Hobbiebrunken E, Röbl M, Gärtner J, Brockmann K, Zirn B. Shoukier M, et al. Among authors: brockmann k. Clin Genet. 2013 Jan;83(1):53-65. doi: 10.1111/j.1399-0004.2012.01850.x. Epub 2012 Feb 21. Clin Genet. 2013. PMID: 22283495
High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.
Spiegler S, Najm J, Liu J, Gkalympoudis S, Schröder W, Borck G, Brockmann K, Elbracht M, Fauth C, Ferbert A, Freudenberg L, Grasshoff U, Hellenbroich Y, Henn W, Hoffjan S, Hüning I, Korenke GC, Kroisel PM, Kunstmann E, Mair M, Munk-Schulenburg S, Nikoubashman O, Pauli S, Rudnik-Schöneborn S, Sudholt I, Sure U, Tinschert S, Wiednig M, Zoll B, Ginsberg MH, Felbor U. Spiegler S, et al. Among authors: brockmann k. Mol Genet Genomic Med. 2014 Mar;2(2):176-85. doi: 10.1002/mgg3.60. Epub 2014 Jan 14. Mol Genet Genomic Med. 2014. PMID: 24689081 Free PMC article.
427 results