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Page 1
Protocol for developing a core outcome set for male infertility research: an international consensus development study.
Rimmer MP, Howie RA, Anderson RA, Barratt CLR, Barnhart KT, Beebeejaun Y, Bertolla RP, Bhattacharya S, Björndahl L, Bortoletto P, Brannigan RE, Cantineau AEP, Caroppo E, Collura BL, Coward K, Eisenberg ML, De Geyter C, Goulis DG, Henkel RR, Ho VNA, Hussein AF, Huyser C, Kadijk JH, Kamath MS, Khashaba S, Kobori Y, Kopeika J, Kucuk T, Luján S, Matsaseng TC, Mathur RS, McEleny K, Mitchell RT, Mol BW, Murage AM, Ng EHY, Pacey A, Perheentupa AH, Du Plessis S, Rives N, Sarris I, Schlegel PN, Shabbir M, Śmiechowski M, Subramanian V, Sunkara SK, Tarlarzis BC, Tüttelmann F, Vail A, van Wely M, Vazquez-Levin MH, Vuong LN, Wang AY, Wang R, Zini A, Farquhar CM, Niederberger C, Duffy JMN. Rimmer MP, et al. Among authors: tuttelmann f. Hum Reprod Open. 2022 Mar 16;2022(2):hoac014. doi: 10.1093/hropen/hoac014. eCollection 2022. Hum Reprod Open. 2022. PMID: 35402735 Free PMC article. Review.
Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features.
Ansari M, Faour KNW, Shimamura A, Grimes G, Kao EM, Denhoff ER, Blatnik A, Ben-Isvy D, Wang L, Helm BM, Firth H, Breman AM, Bijlsma EK, Iwata-Otsubo A, de Ravel TJL, Fusaro V, Fryer A, Nykamp K, Stühn LG, Haack TB, Korenke GC, Constantinou P, Bujakowska KM, Low KJ, Place E, Humberson J, Napier MP, Hoffman J, Juusola J, Deardorff MA, Shao W, Rockowitz S, Krantz I, Kaur M, Raible S, Kliesch S, Singer-Berk M, Groopman E, DiTroia S, Ballal S, Srivastava S, Rothfelder K, Biskup S, Rzasa J, Kerkhof J, McConkey H, O'Donnell-Luria A, Sadikovic B, Hilton S, Banka S, Tüttelmann F, Conrad D, Talkowski ME, FitzPatrick DR, Boone PM. Ansari M, et al. Among authors: tuttelmann f. medRxiv [Preprint]. 2023 Sep 28:2023.09.27.23294269. doi: 10.1101/2023.09.27.23294269. medRxiv. 2023. Update in: HGG Adv. 2024 Apr 11;5(2):100273. doi: 10.1016/j.xhgg.2024.100273 PMID: 37808847 Free PMC article. Updated. Preprint.
The second PI(3,5)P2 binding site in the S0 helix of KCNQ1 stabilizes PIP2-at the primary PI1 site with potential consequences on intermediate-to-open state transition.
Dellin M, Rohrbeck I, Asrani P, Schreiber JA, Ritter N, Glorius F, Wünsch B, Budde T, Temme L, Strünker T, Stallmeyer B, Tüttelmann F, Meuth SG, Spehr M, Matschke J, Steinbicker A, Gatsogiannis C, Stoll R, Strutz-Seebohm N, Seebohm G. Dellin M, et al. Among authors: tuttelmann f. Biol Chem. 2023 Feb 23;404(4):241-254. doi: 10.1515/hsz-2022-0247. Print 2023 Mar 28. Biol Chem. 2023. PMID: 36809224
C19ORF84 connects piRNA and DNA methylation machineries to defend the mammalian germ line.
Zoch A, Konieczny G, Auchynnikava T, Stallmeyer B, Rotte N, Heep M, Berrens RV, Schito M, Kabayama Y, Schöpp T, Kliesch S, Houston B, Nagirnaja L, O'Bryan MK, Aston KI, Conrad DF, Rappsilber J, Allshire RC, Cook AG, Tüttelmann F, O'Carroll D. Zoch A, et al. Among authors: tuttelmann f. Mol Cell. 2024 Mar 21;84(6):1021-1035.e11. doi: 10.1016/j.molcel.2024.01.014. Epub 2024 Feb 14. Mol Cell. 2024. PMID: 38359823 Free article.
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
Ansari M, Faour KNW, Shimamura A, Grimes G, Kao EM, Denhoff ER, Blatnik A, Ben-Isvy D, Wang L, Helm BM, Firth H, Breman AM, Bijlsma EK, Iwata-Otsubo A, de Ravel TJL, Fusaro V, Fryer A, Nykamp K, Stühn LG, Haack TB, Korenke GC, Constantinou P, Bujakowska KM, Low KJ, Place E, Humberson J, Napier MP, Hoffman J, Juusola J, Deardorff MA, Shao W, Rockowitz S, Krantz I, Kaur M, Raible S, Dortenzio V, Kliesch S, Singer-Berk M, Groopman E, DiTroia S, Ballal S, Srivastava S, Rothfelder K, Biskup S, Rzasa J, Kerkhof J, McConkey H, Sadikovic B, Hilton S, Banka S, Tüttelmann F, Conrad DF, O'Donnell-Luria A, Talkowski ME, FitzPatrick DR, Boone PM. Ansari M, et al. Among authors: tuttelmann f. HGG Adv. 2024 Apr 11;5(2):100273. doi: 10.1016/j.xhgg.2024.100273. Epub 2024 Jan 30. HGG Adv. 2024. PMID: 38297832 Free PMC article.
A global approach to addressing the policy, research and social challenges of male reproductive health.
Barratt CLR, De Jonge CJ, Anderson RA, Eisenberg ML, Garrido N, Rautakallio Hokkanen S, Krausz C, Kimmins S, O'Bryan MK, Pacey AA, Tüttelmann F, Veltman JA. Barratt CLR, et al. Among authors: tuttelmann f. Hum Reprod Open. 2021 Mar 21;2021(1):hoab009. doi: 10.1093/hropen/hoab009. eCollection 2021. Hum Reprod Open. 2021. PMID: 33768166 Free PMC article.
A de novo paradigm for male infertility.
Oud MS, Smits RM, Smith HE, Mastrorosa FK, Holt GS, Houston BJ, de Vries PF, Alobaidi BKS, Batty LE, Ismail H, Greenwood J, Sheth H, Mikulasova A, Astuti GDN, Gilissen C, McEleny K, Turner H, Coxhead J, Cockell S, Braat DDM, Fleischer K, D'Hauwers KWM, Schaafsma E; Genetics of Male Infertility Initiative (GEMINI) consortium; Nagirnaja L, Conrad DF, Friedrich C, Kliesch S, Aston KI, Riera-Escamilla A, Krausz C, Gonzaga-Jauregui C, Santibanez-Koref M, Elliott DJ, Vissers LELM, Tüttelmann F, O'Bryan MK, Ramos L, Xavier MJ, van der Heijden GW, Veltman JA. Oud MS, et al. Among authors: tuttelmann f. Nat Commun. 2022 Jan 10;13(1):154. doi: 10.1038/s41467-021-27132-8. Nat Commun. 2022. PMID: 35013161 Free PMC article.
Effect of Genetic Variants of Gonadotropins and Their Receptors on Ovarian Stimulation Outcomes: A Delphi Consensus.
Conforti A, Tüttelmann F, Alviggi C, Behre HM, Fischer R, Hu L, Polyzos NP, Chuderland D, Rama Raju GA, D'Hooghe T, Simoni M, Sunkara SK, Longobardi S. Conforti A, et al. Among authors: tuttelmann f. Front Endocrinol (Lausanne). 2022 Feb 1;12:797365. doi: 10.3389/fendo.2021.797365. eCollection 2021. Front Endocrinol (Lausanne). 2022. PMID: 35178027 Free PMC article.
128 results