Publications:

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Genetic variants of G-protein coupled receptors associated with pubertal disorders.

Reproductive Medicine And Biology

Suzuki, Erina E; Miyado, Mami M; Kuroki, Yoko Y; Fukami, Maki M

Publication Date: 2023

Variant appearance in text: FSHR: T449I

PubMed Link: 37122876

Variant Present in the following documents:

• Main text
• RMB2-22-e12515.pdf

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Spontaneous and iatrogenic ovarian hyperstimulation syndrome in the absence of FSHR mutations: a case report of two unexpected cases.

Bmc Medical Genomics

Daolio, Jessica J; Sperduti, Samantha S; Casarini, Livio L; Falbo, Angela A; Materazzo, Caterina C; Aguzzoli, Lorenzo L; Villani, Maria Teresa MT

Publication Date: 2023-03-07

Variant appearance in text: FSHR: Thr449Ile

PubMed Link: 36882810

Variant Present in the following documents:

• Main text
• 12920_2023_Article_1473.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: FSHR: 1346C>T; Thr449Ile

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Follicle-stimulating hormone receptor gene polymorphisms of ovarian reserve markers in Romanian population.

Experimental And Therapeutic Medicine

Tănase, Adina-Elena AE; Nemescu, Dragos D; Popescu, Roxana R; Carauleanu, Alexandru A; Mogos, Raluca Anamaria RA; Luca, Alexandru A; Onofriescu, Mircea M

Publication Date: 2020-12

Variant appearance in text: FSHR: Thr449Ile

PubMed Link: 33123232

Variant Present in the following documents:

• Main text
• etm-20-06-09333.pdf

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Glycoprotein G-protein Coupled Receptors in Disease: Luteinizing Hormone Receptors and Follicle Stimulating Hormone Receptors.

Diseases (Basel, Switzerland)

Althumairy, Duaa D; Zhang, Xiaoping X; Baez, Nicholas N; Barisas, George G; Roess, Deborah A DA; Bousfield, George R GR; Crans, Debbie C DC

Publication Date: 2020-09-15

Variant appearance in text: FSHR: T449I

PubMed Link: 32942611

Variant Present in the following documents:

• Main text
• diseases-08-00035.pdf

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Spontaneous ovarian hyperstimulation syndrome: Report of two cases.

World Journal Of Clinical Cases

Gui, Juan J; Zhang, Jie J; Xu, Wang-Ming WM; Ming, Lei L

Publication Date: 2019-12-26

Variant appearance in text: FSHR: Thr449Ile

PubMed Link: 31911922

Variant Present in the following documents:

• Main text
• WJCC-7-4384.pdf

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ACTUALITIES IN MUTATIONS OF LUTEINIZING HORMONE (LH) AND FOLLICLE-STIMULATING HORMONE (FSH) RECEPTORS.

Acta Endocrinologica (Bucharest, Romania : 2005)

Gheorghiu, M L ML

Publication Date: 2019

Variant appearance in text: FSHR: T449I

PubMed Link: 31149075

Variant Present in the following documents:

• Main text

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Spontaneous Ovarian Hyperstimulation Syndrome with FSH Receptor Gene Mutation: Two Rare Case Reports.

Case Reports In Obstetrics And Gynecology

Topdagi Yilmaz, Emsal Pinar EP; Yapca, Omer Erkan OE; Topdagi, Yunus Emre YE; Kaya Topdagi, Seray S; Kumtepe, Yakup Y

Publication Date: 2018

Variant appearance in text: FSHR: 1346C>T

PubMed Link: 30410807

Variant Present in the following documents:

• Main text
• CRIOG2018-9294650.pdf

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs28928870

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: FSHR: T449I; rs28928870

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: FSHR: T449I

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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The consequences of mutations in the reproductive endocrine system.

Development & Reproduction

Choi, Donchan D

Publication Date: 2012-12

Variant appearance in text: FSHR: Thr449Ile

PubMed Link: 25949097

Variant Present in the following documents:

• Main text
• devrepro-16-235.pdf

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The molecular basis of impaired follicle-stimulating hormone action: evidence from human mutations and mouse models.

Reproductive Sciences (Thousand Oaks, Calif.)

Siegel, Eric T ET; Kim, Hyung-Goo HG; Nishimoto, Hiromi Koso HK; Layman, Lawrence C LC

Publication Date: 2013-03

Variant appearance in text: FSHR: 1346C>T; Thr449Ile

PubMed Link: 23184658

Variant Present in the following documents:

• Main text

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Ignored adult primary hypothyroidism presenting chiefly with persistent ovarian cysts: a need for increased awareness.

Reproductive Biology And Endocrinology : Rb&E

Shu, Jing J; Xing, Lili L; Zhang, Lingyan L; Fang, Suhua S; Huang, Hefeng H

Publication Date: 2011-08-23

Variant appearance in text: FSHR: Thr449Ile

PubMed Link: 21861901

Variant Present in the following documents:

• 1477-7827-9-119.pdf

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Constitutive activation of G protein-coupled receptors and diseases: insights into mechanisms of activation and therapeutics.

Pharmacology & Therapeutics

Tao, Ya-Xiong YX

Publication Date: 2008-11

Variant appearance in text: FSHR: T449I

PubMed Link: 18768149

Variant Present in the following documents:

• Main text

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