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130 results

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Quoted phrase not found in phrase index: "Primordial dwarfism-immunodeficiency-lipodystrophy syndrome"
Page 1
Autophagy in ovary and polycystic ovary syndrome: role, dispute and future perspective.
Kumariya S, Ubba V, Jha RK, Gayen JR. Kumariya S, et al. Autophagy. 2021 Oct;17(10):2706-2733. doi: 10.1080/15548627.2021.1938914. Epub 2021 Jun 23. Autophagy. 2021. PMID: 34161185 Free PMC article. Review.
Polycystic ovary syndrome (PCOS) is a unification of endocrine and metabolic disorders and has become immensely prevalent among women of fertile age. ...Defective autophagy in the follicular cells during different stages of follicles is observed in the PCOS ovary. E …
Polycystic ovary syndrome (PCOS) is a unification of endocrine and metabolic disorders and has become immensely prevalent among women …
Pregnancy and Reproductive Risk Factors for Cardiovascular Disease in Women.
O'Kelly AC, Michos ED, Shufelt CL, Vermunt JV, Minissian MB, Quesada O, Smith GN, Rich-Edwards JW, Garovic VD, El Khoudary SR, Honigberg MC. O'Kelly AC, et al. Circ Res. 2022 Feb 18;130(4):652-672. doi: 10.1161/CIRCRESAHA.121.319895. Epub 2022 Feb 17. Circ Res. 2022. PMID: 35175837 Free PMC article. Review.
Differences in conventional cardiovascular disease risk factors appear to explain some, but not all, of the observed associations between reproductive history and later-life cardiovascular disease; further research is needed to elucidate hormonal effects and unique sex-spe …
Differences in conventional cardiovascular disease risk factors appear to explain some, but not all, of the observed associations bet …
Ovarian reserve testing: a user's guide.
Tal R, Seifer DB. Tal R, et al. Am J Obstet Gynecol. 2017 Aug;217(2):129-140. doi: 10.1016/j.ajog.2017.02.027. Epub 2017 Feb 21. Am J Obstet Gynecol. 2017. PMID: 28235465 Review.
Ovarian reserve is a complex clinical phenomenon influenced by age, genetics, and environmental variables. Although it is challenging to predict the rate of an individual's ovarian reserve decline, clinicians are often asked for advice about fertility potential and/or reco …
Ovarian reserve is a complex clinical phenomenon influenced by age, genetics, and environmental variables. Although it is challenging to …
Advances in Skeletal Dysplasia Genetics.
Geister KA, Camper SA. Geister KA, et al. Annu Rev Genomics Hum Genet. 2015;16:199-227. doi: 10.1146/annurev-genom-090314-045904. Epub 2015 Apr 22. Annu Rev Genomics Hum Genet. 2015. PMID: 25939055 Free PMC article. Review.
We also cover potential therapies, unusual genetic mechanisms, and novel skeletal syndromes both with and without known genetic causes. The acceleration of skeletal dysplasia genetics is truly spectacular, and these advances hold great promise for diagnostics, risk pred …
We also cover potential therapies, unusual genetic mechanisms, and novel skeletal syndromes both with and without known genetic cause …
Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency.
Saito S, Kurosawa A, Adachi N. Saito S, et al. J Hum Genet. 2016 Aug;61(8):679-85. doi: 10.1038/jhg.2016.46. Epub 2016 May 12. J Hum Genet. 2016. PMID: 27169690 Review.
In successive reports from 2014 to 2015, X-ray repair cross-complementing protein 4 (XRCC4) has been identified as a novel causative gene of primordial dwarfism. XRCC4 is indispensable for non-homologous end joining (NHEJ), the major pathway for repairing DNA double-strand …
In successive reports from 2014 to 2015, X-ray repair cross-complementing protein 4 (XRCC4) has been identified as a novel causative gene of …
Clinical heterogeneity in families with multiple cases of inborn errors of immunity.
Delavari S, Rasouli SE, Fekrvand S, Chavoshzade Z, Mahdaviani SA, Shirmast P, Sharafian S, Sherkat R, Momen T, Aleyasin S, Ahanchian H, Sadeghi-Shabestari M, Esmaeilzadeh H, Barzamini S, Tarighatmonfared F, Salehi H, Esmaeili M, Marzani Z, Fathi N, Abolnezhadian F, Rad MK, Saeedi-Boroujeni A, Shirkani A, Bagheri Z, Salami F, Shad TM, Marzbali MY, Mojtahedi H, Razavi A, Tavakolinia N, Cheraghi T, Tavakol M, Shafiei A, Behniafard N, Ebrahimi SS, Sepahi N, Ghaneimoghadam A, Rezaei A, Kalantari A, Abolhassani H, Rezaei N. Delavari S, et al. Clin Immunol. 2024 Feb;259:109896. doi: 10.1016/j.clim.2024.109896. Epub 2024 Jan 4. Clin Immunol. 2024. PMID: 38184287
Regarding immunological heterogeneity within a unique family with multiple cases of IEI, the highest discordance in CD3(+), CD4(+), CD19(+), IgM and IgA levels was observed in syndromic combined immunodeficiencies (CID), while non-syndromic CID particularly s …
Regarding immunological heterogeneity within a unique family with multiple cases of IEI, the highest discordance in CD3(+), CD4(+), CD19(+), …
The relationship between obesity and hypertension: an updated comprehensive overview on vicious twins.
Leggio M, Lombardi M, Caldarone E, Severi P, D'Emidio S, Armeni M, Bravi V, Bendini MG, Mazza A. Leggio M, et al. Hypertens Res. 2017 Dec;40(12):947-963. doi: 10.1038/hr.2017.75. Epub 2017 Oct 5. Hypertens Res. 2017. PMID: 28978986 Review.
Obesity is a growing global health concern, with a rapid increase being observed in morbid obesity. Obesity is associated with an increased cardiovascular risk and earlier onset of cardiovascular morbidity. ...Consequently, a comprehensive and exhaustive investigation of t …
Obesity is a growing global health concern, with a rapid increase being observed in morbid obesity. Obesity is associated with an inc …
Establishing international optimal cut-offs of waist-to-height ratio for predicting cardiometabolic risk in children and adolescents aged 6-18 years.
Zong X, Kelishadi R, Hong YM, Schwandt P, Matsha TE, Mill JG, Whincup PH, Pacifico L, López-Bermejo A, Caserta CA, Medeiros CCM, Kollias A, Qorbani M, Jazi FS, Haas GM, de Oliveira Alvim R, Zaniqueli D, Chiesa C, Bassols J, Romeo EL, de Carvalho DF, da Silva Simões MO, Stergiou GS, Grammatikos E, Zhao M, Magnussen CG, Xi B. Zong X, et al. BMC Med. 2023 Nov 15;21(1):442. doi: 10.1186/s12916-023-03169-y. BMC Med. 2023. PMID: 37968681 Free PMC article.
We performed an external independent test (9,619 children and adolescents aged 6-18 years who came from other six countries) to validate the optimal WHtR cut-offs based on the predicting performance for at least two or three cardiometabolic risk factors. ...However, these …
We performed an external independent test (9,619 children and adolescents aged 6-18 years who came from other six countries) to validate the …
Dynamics of innate immunity are key to chronic immune activation in AIDS.
Benecke A, Gale M Jr, Katze MG. Benecke A, et al. Curr Opin HIV AIDS. 2012 Jan;7(1):79-85. doi: 10.1097/COH.0b013e32834dde31. Curr Opin HIV AIDS. 2012. PMID: 22156845 Free PMC article. Review.
Concomitant with insights gained in other host-pathogen systems, as well as an increased understanding of innate immune activation mechanisms, these observations lead to a new model for the timing of innate HIV immune responses and a possible primordial role of this …
Concomitant with insights gained in other host-pathogen systems, as well as an increased understanding of innate immune activation mechanism …
Premature ovarian insufficiency - the need for a genomic map.
Cloke B, Rymer J. Cloke B, et al. Climacteric. 2021 Oct;24(5):444-452. doi: 10.1080/13697137.2021.1945025. Epub 2021 Jul 26. Climacteric. 2021. PMID: 34308731 Review.
Currently, the only genetic tests routinely performed in non-syndromic POI are FMR1 premutation and cytogenetics, the latter specifically for X-chromosome abnormalities. ...The presence of multiple genetic aberrations and the complexity of POI genomics are hardly surprisin …
Currently, the only genetic tests routinely performed in non-syndromic POI are FMR1 premutation and cytogenetics, the latter specific …
130 results