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Select item 108158141.

PGT-M for Premature Ovarian Failure Related to CGG Repeat Expansion of the FMR1 Gene

Tiziana Persico, Maria Lucrezia Tranquillo, Renato Seracchioli, Daniela Zuccarello, Ugo Sorrentino

Genes (Basel) 2024 Jan; 15(1): 6. Published online 2023 Dec 19. doi: 10.3390/genes15010006

PMCID:: PMC10815814

Article PDF–1.0M

Select item 106266752.

Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report

Hannah E. Munson, Lenika De Simone, Abigail Schwaede, Avanti Bhatia, Divakar S. Mithal, Nancy Young, Nancy Kuntz, Vamshi K. Rao

BMC Med Genomics. 2023; 16: 278. Published online 2023 Nov 6. doi: 10.1186/s12920-023-01599-4

PMCID:: PMC10626675

Article PDF–809K

Select item 105290563.

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation

Flora Tassone, Dragana Protic, Emily Graves Allen, Alison D. Archibald, Anna Baud, Ted W. Brown, Dejan B. Budimirovic, Jonathan Cohen, Brett Dufour, Rachel Eiges, Nicola Elvassore, Lidia V. Gabis, Samantha J. Grudzien, Deborah A. Hall, David Hessl, Abigail Hogan, Jessica Ezzell Hunter, Peng Jin, Poonnada Jiraanont, Jessica Klusek, R. Frank Kooy, Claudine M. Kraan, Cecilia Laterza, Andrea Lee, Karen Lipworth, Molly Losh, Danuta Loesch, Reymundo Lozano, Marsha R. Mailick, Apostolos Manolopoulos, Veronica Martinez-Cerdeno, Yingratana McLennan, Robert M. Miller, Federica Alice Maria Montanaro, Matthew W. Mosconi, Sarah Nelson Potter, Melissa Raspa, Susan M. Rivera, Katharine Shelly, Peter K. Todd, Katarzyna Tutak, Jun Yi Wang, Anne Wheeler, Tri Indah Winarni, Marwa Zafarullah, Randi J. Hagerman

Cells. 2023 Sep; 12(18): 2330. Published online 2023 Sep 21. doi: 10.3390/cells12182330

PMCID:: PMC10529056

Article PDF–4.4M

Select item 105227574.

Diagnostic value of molecular approach in screening for fragile X premutation cases

Miral M. Refeat, Mostafa M. El Saied, Ehab R. Abdel Raouf

Ir J Med Sci. 2023; 192(5): 2265–2272. Published online 2022 Nov 21. doi: 10.1007/s11845-022-03166-9

PMCID:: PMC10522757

Article PDF–925K

Select item 104356265.

Exploiting a living biobank to delineate mechanisms underlying disease-specific chromosome instability

Louisa Nelson, Bethany M. Barnes, Anthony Tighe, Samantha Littler, Camilla Coulson-Gilmer, Anya Golder, Sudha Desai, Robert D. Morgan, Joanne C. McGrail, Stephen S. Taylor

Chromosome Res. 2023; 31(3): 21. Published online 2023 Aug 17. doi: 10.1007/s10577-023-09731-x

PMCID:: PMC10435626

Article PDF–1.1M

Select item 104165406.

Fance deficiency inhibits primordial germ cell proliferation associated with transcription–replication conflicts accumulate and DNA repair defects

Zhixian Zhou, Huan Yin, Suye Suye, Zhen Ren, Lei Yan, Liye Shi, Chun Fu

J Ovarian Res. 2023; 16: 160. Published online 2023 Aug 10. doi: 10.1186/s13048-023-01252-9

PMCID:: PMC10416540

Article PDF–15M

Select item 102332367.

Association of genetic disorders and congenital malformations with premature ovarian insufficiency: a nationwide register-based study

H Silvén, S M Savukoski, P Pesonen, E Pukkala, M Ojaniemi, M Gissler, E Suvanto, M Niinimäki

Hum Reprod. 2023 Jun; 38(6): 1224–1230. Published online 2023 Apr 5. doi: 10.1093/humrep/dead066

PMCID:: PMC10233236

Article PDF–478K

Select item 101488698.

Clinical implications of somatic allele expansion in female FMR1 premutation carriers

Ramkumar Aishworiya, Ye Hyun Hwang, Ellery Santos, Bruce Hayward, Karen Usdin, Blythe Durbin-Johnson, Randi Hagerman, Flora Tassone

Sci Rep. 2023; 13: 7050. Published online 2023 Apr 29. doi: 10.1038/s41598-023-33528-x

PMCID:: PMC10148869

Article PDF–1.6M

Select item 98407359.

The diagnostic experience of women with fragile X–associated primary ovarian insufficiency (FXPOI)

Bonnie Poteet, Nadia Ali, Cecelia Bellcross, Stephanie L. Sherman, Whitney Espinel, Heather Hipp, Emily G. Allen

J Assist Reprod Genet. 2023 Jan; 40(1): 179–190. Published online 2022 Nov 30. doi: 10.1007/s10815-022-02671-1

PMCID:: PMC9840735

Article PDF–728K

Select item 982857410.

Evidence for a fragile X messenger ribonucleoprotein 1 (FMR1) mRNA gain‐of‐function toxicity mechanism contributing to the pathogenesis of fragile X‐associated premature ovarian insufficiency

Roseanne Rosario, Hazel L. Stewart, Nila Roy Choudhury, Gracjan Michlewski, Nicholas Charlet‐Berguerand, Richard A. Anderson

FASEB J. 2022 Nov; 36(11): e22612. Published online 2022 Oct 17. doi: 10.1096/fj.202200468RR

PMCID:: PMC9828574

Article PDF–5.1M

Select item 981238311.

In vitro cellular reprogramming to model gonad development and its disorders

Nitzan Gonen, Caroline Eozenou, Richard Mitter, Maëva Elzaiat, Isabelle Stévant, Rona Aviram, Andreia Sofia Bernardo, Almira Chervova, Somboon Wankanit, Emmanuel Frachon, Pierre-Henri Commère, Sylvie Brailly-Tabard, Léo Valon, Laura Barrio Cano, Romain Levayer, Inas Mazen, Samy Gobaa, James C. Smith, Kenneth McElreavey, Robin Lovell-Badge, Anu Bashamboo

Sci Adv. 2023 Jan; 9(1): eabn9793. Published online 2023 Jan 4. doi: 10.1126/sciadv.abn9793

PMCID:: PMC9812383

Article PDF–2.5M

Select item 979767312.

Clinical characteristics and molecular etiology of partial 17α-hydroxylase deficiency diagnosed in 46,XX patients

Duoduo Zhang, Fengxia Yao, Min Luo, Yanfang Wang, Tiffany Tian, Shan Deng, Qinjie Tian

Front Endocrinol (Lausanne) 2022; 13: 978026. Published online 2022 Dec 15. doi: 10.3389/fendo.2022.978026

PMCID:: PMC9797673

Article PDF–5.4M

Select item 977821413.

Fragile X-Associated Neuropsychiatric Disorders (FXAND) in Young Fragile X Premutation Carriers

Ramkumar Aishworiya, Dragana Protic, Si Jie Tang, Andrea Schneider, Flora Tassone, Randi Hagerman

Genes (Basel) 2022 Dec; 13(12): 2399. Published online 2022 Dec 17. doi: 10.3390/genes13122399

PMCID:: PMC9778214

Article PDF–553K

Select item 973678314.

RNA‐methyltransferase Nsun5 controls the maternal‐to‐zygotic transition by regulating maternal mRNA stability

Chenyue Ding, Jiafeng Lu, Jincheng Li, Xiujuan Hu, Zhenxing Liu, Han Su, Hong Li, Boxian Huang

Clin Transl Med. 2022 Dec; 12(12): e1137. Published online 2022 Dec 10. doi: 10.1002/ctm2.1137

PMCID:: PMC9736783

Article PDF–3.1M

Select item 972101415.

Chromosomal analysis of 262 miscarried conceptuses: a retrospective study

Juan Gui, Jinli Ding, Tailang Yin, Qian Liu, Qingzhen Xie, Lei Ming

BMC Pregnancy Childbirth. 2022; 22: 906. Published online 2022 Dec 5. doi: 10.1186/s12884-022-05246-1

PMCID:: PMC9721014

Article PDF–861K

Select item 948240016.

Case report of bilateral ovarian fibromas associated with de novo germline variants in PTCH1 and SMARCA4

Tomoyasu Higashimoto, Christy Haakonsen Smith, Mark R. Hopkins, John Gross, Deyin Xing, Jae W. Lee, Traevia Morris, Joann Bodurtha

Mol Genet Genomic Med. 2022 Sep; 10(9): e2005. Published online 2022 Jun 30. doi: 10.1002/mgg3.2005

PMCID:: PMC9482400

Article PDF–4.5M

Select item 947496017.

Are ovarian responses and the number of transferable embryos different in females and partners of male balanced translocation carriers?

Mingyue Liu, Zhiqin Bu, Yan Liu, Jinhao Liu, Shanjun Dai

J Assist Reprod Genet. 2022 Sep; 39(9): 2019–2026. Published online 2022 Aug 4. doi: 10.1007/s10815-022-02563-4

PMCID:: PMC9474960

Article PDF–777K

Select item 944682418.

Duplication of SOX3 in an SRY-negative 46,XX male with prostatic utricle: case report and literature review

Jiansheng Wei, Changrong Liu, Minyan Zhang, Shen Liu, Junjie Fu, Peng Lin

BMC Med Genomics. 2022; 15: 188. Published online 2022 Sep 5. doi: 10.1186/s12920-022-01347-0

PMCID:: PMC9446824

Article PDF–1.4M

Select item 935543419.

Clinical outcomes of 77 TESE treatment cycles in non-mosaic Klinefelter syndrome patients

Pedro Barros, Mariana Cunha, Alberto Barros, Mário Sousa, Sofia Dória

JBRA Assist Reprod. 2022 Jul-Sep; 26(3): 412–421. doi: 10.5935/1518-0557.20210081

PMCID:: PMC9355434

Article PDF–226K

Select item 922960020.

Genotype, Mortality, Morbidity, and Outcomes of 3β-Hydroxysteroid Dehydrogenase Deficiency in Algeria

Asmahane Ladjouze, Malcolm Donaldson, Ingrid Plotton, Nacima Djenane, Kahina Mohammedi, Véronique Tardy-Guidollet, Delphine Mallet, Kamélia Boulesnane, Zair Bouzerar, Yves Morel, Florence Roucher-Boulez

Front Endocrinol (Lausanne) 2022; 13: 867073. Published online 2022 Jun 10. doi: 10.3389/fendo.2022.867073

PMCID:: PMC9229600

Article PDF–4.0M

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