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Select item 109298751.

二甲双胍联合利拉鲁肽治疗儿童HAIR-AN综合征1例并文献复习

李冉浩, 李宏鑫, 杨兆军, 张雪莲

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2023 Sep 28; 48(9): 1425–1431. Chinese. doi: 10.11817/j.issn.1672-7347.2023.230100

PMCID:: PMC10929875

Article PDF–2.7M

Select item 108481882.

Репликативные и биохимические механизмы старения у женщин с синдромом Тернера

Михеев Р. К., Андреева Е. Н., Григорян О. Р., Шереметьева Е. В., Панкратова М. С., Логинова Е. В.

Probl Endokrinol (Mosk) 2023; 69(6): 113–120. Russian. Published online 2024 Jan 24. doi: 10.14341/probl13256

PMCID:: PMC10848188

Article PDF–168K

Select item 105058733.

Evaluation of Second Primary Cancer Risk Among Chronic Lymphocytic Leukemia Patients: Multicenter Study

Selim Sayin, Emrah Kiliacslan, Murat Yildirim, Hacer Berna Afacan Ozturk, Esra Safak Yilmaz, Murat Albayrak, M. Kursat Kaptan, Meltem Ayli

Asian Pac J Cancer Prev. 2023; 24(6): 1971–1977. doi: 10.31557/APJCP.2023.24.6.1971

PMCID:: PMC10505873

Article PDF–466K

Select item 102332364.

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 102248955.

Successful ART outcome with donor oocytes in female Kartagener’s syndrome: a case report and follow-up

Sasikala Natarajamani, Rajapriya Ayyappan, Archana Manikere

J Assist Reprod Genet. 2023 Apr; 40(4): 779–782. Published online 2023 Apr 14. doi: 10.1007/s10815-023-02794-z

PMCID:: PMC10224895

Article PDF–437K

Select item 98326776.

Insulin resistance in polycystic ovary syndrome across various tissues: an updated review of pathogenesis, evaluation, and treatment

Han Zhao, Jiaqi Zhang, Xiangyi Cheng, Xiaozhao Nie, Bing He

J Ovarian Res. 2023; 16: 9. Published online 2023 Jan 11. doi: 10.1186/s13048-022-01091-0

PMCID:: PMC9832677

Article PDF–1.2M

Select item 98123837.

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 97782148.

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 97367839.

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 972101410.

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 948240011.

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 947496012.

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 947479113.

Identification of novel biallelic variants in BMP15 in two siblings with premature ovarian insufficiency

Tao Zhang, Qianhong Ma, Qiongyan Shen, Chuan Jiang, Fangdong Zou, Ying Shen, Yan Wang

J Assist Reprod Genet. 2022 Sep; 39(9): 2125–2134. Published online 2022 Jul 21. doi: 10.1007/s10815-022-02574-1

PMCID:: PMC9474791

Article PDF–1.6M

Select item 935543414.

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 922960015.

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

Select item 876918416.

Trisomy 21 and Assisted Reproductive Technologies: A review

Edgard Sánchez-Pavón, Hector Mendoza, Javier García-Ferreyra

JBRA Assist Reprod. 2022 Jan-Mar; 26(1): 129–141. doi: 10.5935/1518-0557.20210047

PMCID:: PMC8769184

Article PDF–1.1M

Select item 860026617.

Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset

Raffaella Rossetti, Silvia Moleri, Fabiana Guizzardi, Davide Gentilini, Laura Libera, Anna Marozzi, Costanzo Moretti, Francesco Brancati, Marco Bonomi, Luca Persani

Front Endocrinol (Lausanne) 2021; 12: 664645. Published online 2021 Nov 4. doi: 10.3389/fendo.2021.664645

PMCID:: PMC8600266

Article PDF–2.1M

Select item 846044118.

Refining the risk for fragile X–associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size

Emily Graves Allen, Krista Charen, Heather S. Hipp, Lisa Shubeck, Ashima Amin, Weiya He, Sarah L. Nolin, Anne Glicksman, Nicole Tortora, Bonnie McKinnon, Katharine E. Shelly, Stephanie L. Sherman

Genet Med. 2021; 23(9): 1648–1655. Published online 2021 Apr 29. doi: 10.1038/s41436-021-01177-y