Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs1250248

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Placenta Previa Complicated with Endometriosis: Contemporary Clinical Management, Molecular Mechanisms, and Future Research Opportunities.

Biomedicines

Matsuzaki, Shinya S; Nagase, Yoshikazu Y; Ueda, Yutaka Y; Kakuda, Mamoru M; Maeda, Michihide M; Matsuzaki, Satoko S; Kamiura, Shoji S

Publication Date: 2021-10-26

Variant appearance in text: rs1250248

PubMed Link: 34829767

Variant Present in the following documents:

• Main text
• biomedicines-09-01536.pdf

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Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment and Genetics (Review of Literature).

International Journal Of Molecular Sciences

Smolarz, Beata B; Szyłło, Krzysztof K; Romanowicz, Hanna H

Publication Date: 2021-09-29

Variant appearance in text: rs1250248

PubMed Link: 34638893

Variant Present in the following documents:

• Main text
• ijms-22-10554.pdf

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Genomics of Endometriosis: From Genome Wide Association Studies to Exome Sequencing.

International Journal Of Molecular Sciences

Lalami, Imane I; Abo, Carole C; Borghese, Bruno B; Chapron, Charles C; Vaiman, Daniel D

Publication Date: 2021-07-07

Variant appearance in text: rs1250248

PubMed Link: 34298916

Variant Present in the following documents:

• Main text
• ijms-22-07297.pdf

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Genetic Characterization of Endometriosis Patients: Review of the Literature and a Prospective Cohort Study on a Mediterranean Population.

International Journal Of Molecular Sciences

Angioni, Stefano S; D'Alterio, Maurizio Nicola MN; Coiana, Alessandra A; Anni, Franco F; Gessa, Stefano S; Deiana, Danilo D

Publication Date: 2020-03-04

Variant appearance in text: rs1250248

PubMed Link: 32143537

Variant Present in the following documents:

• Main text
• ijms-21-01765.pdf

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Role of FN1 and GREB1 gene polymorphisms in endometriosis.

Molecular Medicine Reports

Matalliotaki, Charoula C; Matalliotakis, Michail M; Rahmioglu, Nilufer N; Mavromatidis, George G; Matalliotakis, Ioannis I; Koumantakis, George G; Zondervan, Krina K; Spandidos, Demetrios A DA; Goulielmos, George N GN; Zervou, Maria I MI

Publication Date: 2019-07

Variant appearance in text: rs1250248

PubMed Link: 31115525

Variant Present in the following documents:

• Main text

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Defining the genetic profile of endometriosis.

Experimental And Therapeutic Medicine

Vassilopoulou, Loukia L; Matalliotakis, Michail M; Zervou, Maria I MI; Matalliotaki, Charoula C; Krithinakis, Konstantinos K; Matalliotakis, Ioannis I; Spandidos, Demetrios A DA; Goulielmos, George N GN

Publication Date: 2019-05

Variant appearance in text: rs1250248

PubMed Link: 30988702

Variant Present in the following documents:

• Main text
• etm-17-05-3267.pdf

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs1250248

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: FN1: 1394-127T>C; rs1250248

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_7.xlsx, sheet 1

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs1250248

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism.

Nature Communications

Sapkota, Yadav Y; Steinthorsdottir, Valgerdur V; Morris, Andrew P AP; Fassbender, Amelie A; Rahmioglu, Nilufer N; De Vivo, Immaculata I; Buring, Julie E JE; Zhang, Futao F; Edwards, Todd L TL; Jones, Sarah S; O, Dorien D; Peterse, Daniëlle D; Rexrode, Kathryn M KM; Ridker, Paul M PM; Schork, Andrew J AJ; MacGregor, Stuart S; Martin, Nicholas G NG; Becker, Christian M CM; Adachi, Sosuke S; Yoshihara, Kosuke K; Enomoto, Takayuki T; Takahashi, Atsushi A; Kamatani, Yoichiro Y; Matsuda, Koichi K; Kubo, Michiaki M; Thorleifsson, Gudmar G; Geirsson, Reynir T RT; Thorsteinsdottir, Unnur U; Wallace, Leanne M LM; , ; Yang, Jian J; Velez Edwards, Digna R DR; Nyegaard, Mette M; Low, Siew-Kee SK; Zondervan, Krina T KT; Missmer, Stacey A SA; D'Hooghe, Thomas T; Montgomery, Grant W GW; Chasman, Daniel I DI; Stefansson, Kari K; Tung, Joyce Y JY; Nyholt, Dale R DR

Publication Date: 2017-05-24

Variant appearance in text: rs1250248

PubMed Link: 28537267

Variant Present in the following documents:

• Main text
• ncomms15539.pdf

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Genome-wide genetic analyses highlight mitogen-activated protein kinase (MAPK) signaling in the pathogenesis of endometriosis.

Human Reproduction (Oxford, England)

Uimari, Outi O; Rahmioglu, Nilufer N; Nyholt, Dale R DR; Vincent, Katy K; Missmer, Stacey A SA; Becker, Christian C; Morris, Andrew P AP; Montgomery, Grant W GW; Zondervan, Krina T KT

Publication Date: 2017-04-01

Variant appearance in text: rs1250248

PubMed Link: 28333195

Variant Present in the following documents:

• Main text

View BVdb publication page

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Beyond Endometriosis Genome-Wide Association Study: From Genomics to Phenomics to the Patient.

Seminars In Reproductive Medicine

Zondervan, Krina T KT; Rahmioglu, Nilufer N; Morris, Andrew P AP; Nyholt, Dale R DR; Montgomery, Grant W GW; Becker, Christian M CM; Missmer, Stacey A SA

Publication Date: 2016-07

Variant appearance in text: rs1250248

PubMed Link: 27513026

Variant Present in the following documents:

• Main text

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs1250248

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2
• mmc3.xlsx, sheet 1

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Genome-wide enrichment analysis between endometriosis and obesity-related traits reveals novel susceptibility loci.

Human Molecular Genetics

Rahmioglu, Nilufer N; Macgregor, Stuart S; Drong, Alexander W AW; Hedman, Åsa K ÅK; Harris, Holly R HR; Randall, Joshua C JC; Prokopenko, Inga I; , ; Nyholt, Dale R DR; Morris, Andrew P AP; Montgomery, Grant W GW; Missmer, Stacey A SA; Lindgren, Cecilia M CM; Zondervan, Krina T KT

Publication Date: 2015-02-15

Variant appearance in text: rs1250248

PubMed Link: 25296917

Variant Present in the following documents:

• Main text
• ddu516.pdf

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Genetic variants underlying risk of endometriosis: insights from meta-analysis of eight genome-wide association and replication datasets.

Human Reproduction Update

Rahmioglu, Nilufer N; Nyholt, Dale R DR; Morris, Andrew P AP; Missmer, Stacey A SA; Montgomery, Grant W GW; Zondervan, Krina T KT

Publication Date: 2014

Variant appearance in text: rs1250248

PubMed Link: 24676469

Variant Present in the following documents:

• Main text
• dmu015.pdf

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The future for genetic studies in reproduction.

Molecular Human Reproduction

Montgomery, G W GW; Zondervan, K T KT; Nyholt, D R DR

Publication Date: 2014-01

Variant appearance in text: rs1250248

PubMed Link: 23982303

Variant Present in the following documents:

• Main text

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Insights into Assessing the Genetics of Endometriosis.

Current Obstetrics And Gynecology Reports

Rahmioglu, Nilufer N; Missmer, Stacey A SA; Montgomery, Grant W GW; Zondervan, Krina T KT

Publication Date: 2012-09

Variant appearance in text: rs1250248

PubMed Link: 22924156

Variant Present in the following documents:

• Main text
• 13669_2012_Article_16.pdf

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Variations in discovery-based preeclampsia candidate genes.

Clinical And Translational Science

Founds, Sandra A SA; Shi, Haiwen H; Conley, Yvette P YP; Jeyabalan, Arun A; Roberts, James M JM; Lyons-Weiler, James J

Publication Date: 2012-08

Variant appearance in text: rs1250248

PubMed Link: 22883611

Variant Present in the following documents:

• Main text

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Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis.

Nature Genetics

Painter, Jodie N JN; Anderson, Carl A CA; Nyholt, Dale R DR; Macgregor, Stuart S; Lin, Jianghai J; Lee, Sang Hong SH; Lambert, Ann A; Zhao, Zhen Z ZZ; Roseman, Fenella F; Guo, Qun Q; Gordon, Scott D SD; Wallace, Leanne L; Henders, Anjali K AK; Visscher, Peter M PM; Kraft, Peter P; Martin, Nicholas G NG; Morris, Andrew P AP; Treloar, Susan A SA; Kennedy, Stephen H SH; Missmer, Stacey A SA; Montgomery, Grant W GW; Zondervan, Krina T KT

Publication Date: 2011-01

Variant appearance in text: rs1250248

PubMed Link: 21151130

Variant Present in the following documents:

• Main text
• ukmss-33578.pdf

View BVdb publication page

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