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Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
Romaniello R, Arrigoni F, Panzeri E, Poretti A, Micalizzi A, Citterio A, Bedeschi MF, Berardinelli A, Cusmai R, D'Arrigo S, Ferraris A, Hackenberg A, Kuechler A, Mancardi M, Nuovo S, Oehl-Jaschkowitz B, Rossi A, Signorini S, Tüttelmann F, Wahl D, Hehr U, Boltshauser E, Bassi MT, Valente EM, Borgatti R. Romaniello R, et al. Among authors: tuttelmann f. Eur Radiol. 2017 Dec;27(12):5093. doi: 10.1007/s00330-017-4986-6. Eur Radiol. 2017. PMID: 28900662 No abstract available.
Diverse monogenic subforms of human spermatogenic failure.
Nagirnaja L, Lopes AM, Charng WL, Miller B, Stakaitis R, Golubickaite I, Stendahl A, Luan T, Friedrich C, Mahyari E, Fadial E, Kasak L, Vigh-Conrad K, Oud MS, Xavier MJ, Cheers SR, James ER, Guo J, Jenkins TG, Riera-Escamilla A, Barros A, Carvalho F, Fernandes S, Gonçalves J, Gurnett CA, Jørgensen N, Jezek D, Jungheim ES, Kliesch S, McLachlan RI, Omurtag KR, Pilatz A, Sandlow JI, Smith J, Eisenberg ML, Hotaling JM, Jarvi KA, Punab M, Rajpert-De Meyts E, Carrell DT, Krausz C, Laan M, O'Bryan MK, Schlegel PN, Tüttelmann F, Veltman JA, Almstrup K, Aston KI, Conrad DF. Nagirnaja L, et al. Among authors: tuttelmann f. Nat Commun. 2022 Dec 26;13(1):7953. doi: 10.1038/s41467-022-35661-z. Nat Commun. 2022. PMID: 36572685 Free PMC article.
Inherited defects of piRNA biogenesis cause transposon de-repression, impaired spermatogenesis, and human male infertility.
Stallmeyer B, Bühlmann C, Stakaitis R, Dicke AK, Ghieh F, Meier L, Zoch A, MacKenzie MacLeod D, Steingröver J, Okutman Ö, Fietz D, Pilatz A, Riera-Escamilla A, Xavier MJ, Ruckert C, Di Persio S, Neuhaus N, Gurbuz AS, Şalvarci A, Le May N, McEleny K, Friedrich C, van der Heijden G, Wyrwoll MJ, Kliesch S, Veltman JA, Krausz C, Viville S, Conrad DF, O'Carroll D, Tüttelmann F. Stallmeyer B, et al. Among authors: tuttelmann f. Nat Commun. 2024 Aug 9;15(1):6637. doi: 10.1038/s41467-024-50930-9. Nat Commun. 2024. PMID: 39122675 Free PMC article.
Transcriptome analyses in infertile men reveal germ cell-specific expression and splicing patterns.
Siebert-Kuss LM, Krenz H, Tekath T, Wöste M, Di Persio S, Terwort N, Wyrwoll MJ, Cremers JF, Wistuba J, Dugas M, Kliesch S, Schlatt S, Tüttelmann F, Gromoll J, Neuhaus N, Laurentino S. Siebert-Kuss LM, et al. Among authors: tuttelmann f. Life Sci Alliance. 2022 Nov 29;6(2):e202201633. doi: 10.26508/lsa.202201633. Print 2023 Feb. Life Sci Alliance. 2022. PMID: 36446526 Free PMC article.
Three novel presenilin 1 mutations marking the wide spectrum of age at onset and clinical patterns in familial Alzheimer's disease.
Roeber S, Müller-Sarnowski F, Kress J, Edbauer D, Kuhlmann T, Tüttelmann F, Schindler C, Winter P, Arzberger T, Müller U, Danek A, Kretzschmar HA. Roeber S, et al. Among authors: tuttelmann f. J Neural Transm (Vienna). 2015 Dec;122(12):1715-9. doi: 10.1007/s00702-015-1450-0. Epub 2015 Sep 8. J Neural Transm (Vienna). 2015. PMID: 26350633
Linking human Dead end 1 (DND1) variants to male infertility employing zebrafish embryos.
Westerich KJ, Reinecke S, Emich J, Wyrwoll MJ, Stallmeyer B, Meyer M, Oud MS, Fietz D, Pilatz A, Kliesch S, Reichman-Fried M, Tarbashevich K, Limon T, Stehling M, Friedrich C, Tüttelmann F, Raz E. Westerich KJ, et al. Among authors: tuttelmann f. Hum Reprod. 2023 Apr 3;38(4):655-670. doi: 10.1093/humrep/dead031. Hum Reprod. 2023. PMID: 36807972
128 results