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Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency.
Tucker EJ, Sharp MF, Lokchine A, Bell KM, Palmer CS, Kline BL, Robevska G, van den Bergen J, Dulon J, Stojanovski D, Ayers KL, Touraine P, Crismani W, Jaillard S, Sinclair AH. Tucker EJ, et al. Among authors: van den bergen j. Clin Genet. 2024 May 23. doi: 10.1111/cge.14543. Online ahead of print. Clin Genet. 2024. PMID: 38779778
Author Correction: A joint international consensus statement for measuring quality of survival for patients with childhood cancer.
van Kalsbeek RJ, Hudson MM, Mulder RL, Ehrhardt M, Green DM, Mulrooney DA, Hakkert J, den Hartogh J, Nijenhuis A, van Santen HM, Schouten-van Meeteren AYN, van Tinteren H, Verbruggen LC, Conklin HM, Jacola LM, Webster RT, Partanen M, Kollen WJW, Grootenhuis MA, Pieters R, Kremer LCM; International Childhood Cancer Outcome Project participants. van Kalsbeek RJ, et al. Nat Med. 2024 May 22. doi: 10.1038/s41591-024-03065-9. Online ahead of print. Nat Med. 2024. PMID: 38778213 No abstract available.
A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model.
Bakhshalizadeh S, Bird AD, Sreenivasan R, Bell KM, Robevska G, van den Bergen J, Asghari-Jafarabadi M, Kueh AJ, Touraine P, Lokchine A, Jaillard S, Ayers KL, Wilhelm D, Sinclair AH, Tucker EJ. Bakhshalizadeh S, et al. Among authors: van den bergen j. Genes (Basel). 2024 Mar 4;15(3):333. doi: 10.3390/genes15030333. Genes (Basel). 2024. PMID: 38540391 Free PMC article.
Diverse genetic causes of amenorrhea in an ethnically homogeneous cohort and an evolving approach to diagnosis.
Bakhshalizadeh S, Afkhami F, Bell KM, Robevska G, van den Bergen J, Cronin S, Jaillard S, Ayers KL, Kumar P, Siebold C, Xiao Z, Tate EW, Danaei S, Farzadi L, Shahbazi S, Sinclair AH, Tucker EJ. Bakhshalizadeh S, et al. Among authors: van den bergen j. Mol Cell Endocrinol. 2024 Jun 1;587:112212. doi: 10.1016/j.mce.2024.112212. Epub 2024 Mar 22. Mol Cell Endocrinol. 2024. PMID: 38521400 Free article.
Author Correction: A joint international consensus statement for measuring quality of survival for patients with childhood cancer.
van Kalsbeek RJ, Hudson MM, Mulder RL, Ehrhardt M, Green DM, Mulrooney DA, Hakkert J, den Hartogh J, Nijenhuis A, van Santen HM, Schouten-van Meeteren AYN, van Tinteren H, Verbruggen LC, Conklin HM, Jacola LM, Webster RT, Partanen M, Kollen WJW, Grootenhuis MA, Pieters R, Kremer LCM; International Childhood Cancer Outcome Project participants. van Kalsbeek RJ, et al. Nat Med. 2024 Feb;30(2):605. doi: 10.1038/s41591-023-02753-2. Nat Med. 2024. PMID: 38092898 No abstract available.
Author Correction: A joint international consensus statement for measuring quality of survival for patients with childhood cancer.
van Kalsbeek RJ, Hudson MM, Mulder RL, Ehrhardt M, Green DM, Mulrooney DA, Hakkert J, den Hartogh J, Nijenhuis A, van Santen HM, Schouten-van Meeteren AYN, van Tinteren H, Verbruggen LC, Conklin HM, Jacola LM, Webster RT, Partanen M, Kollen WJW, Grootenhuis MA, Pieters R, Kremer LCM; International Childhood Cancer Outcome Project participants. van Kalsbeek RJ, et al. Nat Med. 2024 Feb;30(2):603. doi: 10.1038/s41591-023-02651-7. Nat Med. 2024. PMID: 37963955 No abstract available.
373 results