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Items: 11

1.

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Theroux JF, Jefri M, Tanti A, Wu H, Kolobova I, Silviera H, Manzano-Vargas K, Ehresmann S, Hamdan FF, Hettige N, Zhang X, Antonyan L, Nassif C, Ghaloul-Gonzalez L, Sebastian J, Vockley J, Begtrup AG, Wentzensen IM, Crunk A, Nicholls RD, Herman KC, Deignan JL, Al-Hertani W, Efthymiou S, Salpietro V, Miyake N, Makita Y, Matsumoto N, Østern R, Houge G, Hafström M, Fassi E, Houlden H, Klein Wassink-Ruiter JS, Nelson D, Goldstein A, Dabir T, van Gils J, Bourgeron T, Delorme R, Cooper GM, Martinez JE, Finnila CR, Carmant L, Lortie A, Oegema R, van Gassen K, Mehta SG, Huhle D, Abou Jamra R, Martin S, Brunner HG, Lindhout D, Au M, Graham JM Jr, Coubes C, Turecki G, Gravel S, Mechawar N, Rossignol E, Michaud JL, Lessard J, Ernst C, Campeau PM.

Am J Hum Genet. 2019 May 2;104(5):815-834. doi: 10.1016/j.ajhg.2019.03.022. Epub 2019 Apr 25.

PMID:
31031012
3.

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.

Kortüm F, Jamra RA, Alawi M, Berry SA, Borck G, Helbig KL, Tang S, Huhle D, Korenke GC, Hebbar M, Shukla A, Girisha KM, Steinlin M, Waldmeier-Wilhelm S, Montomoli M, Guerrini R, Lemke JR, Kutsche K.

Eur J Hum Genet. 2018 May;26(5):695-708. doi: 10.1038/s41431-018-0098-2. Epub 2018 Feb 20.

4.

Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.

Neuhaus C, Eisenberger T, Decker C, Nagl S, Blank C, Pfister M, Kennerknecht I, Müller-Hofstede C, Charbel Issa P, Heller R, Beck B, Rüther K, Mitter D, Rohrschneider K, Steinhauer U, Korbmacher HM, Huhle D, Elsayed SM, Taha HM, Baig SM, Stöhr H, Preising M, Markus S, Moeller F, Lorenz B, Nagel-Wolfrum K, Khan AO, Bolz HJ.

Mol Genet Genomic Med. 2017 Jul 6;5(5):531-552. doi: 10.1002/mgg3.312. eCollection 2017 Sep.

5.

Splenic γδ T cell subsets can be separated by a novel mab specific for two CD45 isoforms.

Huhle D, Hirmer S, Göbel TW.

Dev Comp Immunol. 2017 Dec;77:229-240. doi: 10.1016/j.dci.2017.08.013. Epub 2017 Aug 24.

PMID:
28842181
6.

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.

Genet Med. 2018 Jan;20(1):98-108. doi: 10.1038/gim.2017.75. Epub 2017 Jun 29.

PMID:
28661489
7.

Mitotic stability of small supernumerary marker chromosomes: a study based on 93 immortalized cell lines.

Spittel H, Kubek F, Kreskowski K, Ziegler M, Klein E, Hamid AB, Kosyakova N, Radhakrishnan G, Junge A, Kozlowski P, Schulze B, Martin T, Huhle D, Mehnert K, Rodríguez L, Ergun MA, Sarri C, Militaru M, Stipoljev F, Tittelbach H, Vasheghani F, de Bello Cioffi M, Hussein SS, Fan X, Volleth M, Liehr T.

Cytogenet Genome Res. 2014;142(3):151-60. doi: 10.1159/000360776. Epub 2014 Apr 1.

8.

Forty-eight new cases with infertility due to balanced chromosomal rearrangements: detailed molecular cytogenetic analysis of the 90 involved breakpoints.

Manvelyan M, Schreyer I, Höls-Herpertz I, Köhler S, Niemann R, Hehr U, Belitz B, Bartels I, Götz J, Huhle D, Kossakiewicz M, Tittelbach H, Neubauer S, Polityko A, Mazauric ML, Wegner R, Stumm M, Küpferling P, Süss F, Kunze H, Weise A, Liehr T, Mrasek K.

Int J Mol Med. 2007 Jun;19(6):855-64.

PMID:
17487417
9.

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.

Seifert W, Holder-Espinasse M, Spranger S, Hoeltzenbein M, Rossier E, Dollfus H, Lacombe D, Verloes A, Chrzanowska KH, Maegawa GH, Chitayat D, Kotzot D, Huhle D, Meinecke P, Albrecht B, Mathijssen I, Leheup B, Raile K, Hennies HC, Horn D.

J Med Genet. 2006 May;43(5):e22.

10.

Clinical, cytogenetic and molecular investigation in a fetus with Wolf-Hirschhorn syndrome with paternally derived 4p deletion. Case report and review of the literature.

Dietze I, Fritz B, Huhle D, Simoens W, Piecha E, Rehder H.

Fetal Diagn Ther. 2004 May-Jun;19(3):251-60. Review.

PMID:
15067236
11.

[Pneumococcal infections in children: osteomyelitis and arthritis].

Huhle D, Handrick W, Spencker FB, Springer W, Herrmann E, Tischer W.

Padiatr Grenzgeb. 1989;28(4):231-6. German.

PMID:
2797835

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