Publications:

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Atypical HUS with multiple complement system mutations triggered by synthetic psychoactive drug abuse: a case report.

Journal Of Nephrology

Jelicic, Ivo I; Kovacic, Vedran V; Luketin, Mirko M; Mikacic, Marijana M; Skaro, Dijana Boric DB

Publication Date: 2023-05-05

Variant appearance in text: CFH: Q672Q

PubMed Link: 37145269

Variant Present in the following documents:

• Main text
• 40620_2023_Article_1646.pdf

View BVdb publication page

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Hemolytic uremic syndrome in the setting of COVID-19 successfully treated with complement inhibition therapy: An instructive case report of a previously healthy toddler and review of literature.

Frontiers In Pediatrics

Matošević, Matija M; Kos, Ivanka I; Davidović, Maša M; Ban, Maja M; Matković, Hana H; Jakopčić, Ivan I; Vuković Brinar, Ivana I; Szilágyi, Ágnes Á; Csuka, Dorottya D; Sinkovits, György G; Prohászka, Zoltán Z; Vrljičak, Kristina K; Lamot, Lovro L

Publication Date: 2023

Variant appearance in text: CFH: Q672Q

PubMed Link: 36873657

Variant Present in the following documents:

• Main text
• fped-11-1092860.pdf

View BVdb publication page

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Early Eculizumab Withdrawal in Patients With Atypical Hemolytic Uremic Syndrome in Native Kidneys Is Safe and Cost-Effective: Results of the CUREiHUS Study.

Kidney International Reports

Bouwmeester, Romy N RN; Duineveld, Caroline C; Wijnsma, Kioa L KL; Bemelman, Frederike J FJ; van der Heijden, Joost W JW; van Wijk, Joanna A E JAE; Bouts, Antonia H M AHM; van de Wetering, Jacqueline J; Dorresteijn, Eiske E; Berger, Stefan P SP; Gracchi, Valentina V; van Zuilen, Arjan D AD; Keijzer-Veen, Mandy G MG; de Vries, Aiko P J APJ; van Rooij, Roos W G RWG; Engels, Flore A P T FAPT; Altena, Wim W; de Wildt, Renée R; van Kempen, Evy E; Adang, Eddy M EM; Ter Avest, Mendy M; Ter Heine, Rob R; Volokhina, Elena B EB; van den Heuvel, Lambertus P W J LPWJ; Wetzels, Jack F M JFM; van de Kar, Nicole C A J NCAJ

Publication Date: 2023-01

Variant appearance in text: CFH: 2016A>G; rs3753396

PubMed Link: 36644349

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: CFH: 2016A>G; Gln672=

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

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Atypical hemolytic uremic syndrome triggered by mRNA vaccination against SARS-CoV-2: Case report.

Frontiers In Immunology

Rysava, Romana R; Peiskerova, Martina M; Tesar, Vladimir V; Benes, Jan J; Kment, Martin M; Szilágyi, Ágnes Á; Csuka, Dorottya D; Prohászka, Zoltán Z

Publication Date: 2022

Variant appearance in text: CFH: Q672Q; rs3753396

PubMed Link: 36275662

Variant Present in the following documents:

• Main text
• fimmu-13-1001366.pdf

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: CFH: Q672Q

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2

View BVdb publication page

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Acute dilated cardiomyopathy in the setting of catastrophic antiphospholipid syndrome and thrombotic microangiopathy: A case series and review.

Ejhaem

Hermel, Melody M; Hermel, David D; Azam, Saif S; Shinbane, Jerold J; Sarcon, Annahita A; Jones, Erika E; Mehta, Arjun A; Grazette, Luanda L; Liebman, Howard H; Weitz, Ilene I

Publication Date: 2020-07

Variant appearance in text: CFH: GLN672GLN

PubMed Link: 35847716

Variant Present in the following documents:

• Main text
• JHA2-1-44.pdf

View BVdb publication page

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A Limited Course of Eculizumab in a Child with the Atypical Hemolytic Uremic Syndrome and Pre-B Acute Lymphoblastic Leukemia on Maintenance Therapy: Case Report and Literature Review.

Journal Of Clinical Medicine

Turudic, Daniel D; Milosevic, Danko D; Bilic, Katarina K; Prohászka, Zoltán Z; Bilic, Ernest E

Publication Date: 2022-05-14

Variant appearance in text: CFH: Q672Q

PubMed Link: 35628906

Variant Present in the following documents:

• Main text
• jcm-11-02779.pdf

View BVdb publication page

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Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology

Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F

Publication Date: 2022

Variant appearance in text: CFH: Q672Q

PubMed Link: 35311085

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

View BVdb publication page

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Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology

Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y

Publication Date: 2021

Variant appearance in text: CFH: Q672Q

PubMed Link: 35095878

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Atypical Hemolytic Uremic Syndrome (aHUS) and Adenosine Deaminase (ADA)-Deficient Severe Combined Immunodeficiency (SCID)-Two Diseases That Exacerbate Each Other: Case Report.

International Journal Of Molecular Sciences

Bogdał, Anna A; Badeński, Andrzej A; Pac, Małgorzata M; Wójcicka, Anna A; Badeńska, Marta M; Didyk, Agnieszka A; Trembecka-Dubel, Elżbieta E; Dąbrowska-Leonik, Nel N; Walaszczyk, Małgorzata M; Matysiak, Natalia N; Morawiec-Knysak, Aurelia A; Szczepański, Tomasz T; Szczepańska, Maria M

Publication Date: 2021-08-31

Variant appearance in text: rs3753396

PubMed Link: 34502390

Variant Present in the following documents:

• Main text
• ijms-22-09479.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: CFH: 2016A>G; Q672Q; rs3753396

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Compound Haplotype Variants in CFH and CD46 Genes Determine Clinical Outcome of Atypical Hemolytic Uremic Syndrome (aHUS)-A Series of Cases from a Single Family.

Journal Of Personalized Medicine

Furmańczyk-Zawiska, Agnieszka A; Kubiak-Dydo, Anna A; Użarowska-Gąska, Ewelina E; Kotlarek-Łysakowska, Marta M; Salata, Katarzyna K; Kolanowska, Monika M; Świerniak, Michał M; Gaj, Paweł P; Leszczyńska, Beata B; Daniel, Maria M; Jażdżewski, Krystian K; Durlik, Magdalena M; Wójcicka, Anna A

Publication Date: 2021-04-15

Variant appearance in text: CFH: 2016A>G; Gln672Gln; rs3753396

PubMed Link: 33920896

Variant Present in the following documents:

• Main text

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: CFH: Gln672Gln; rs3753396

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Eculizumab for pediatric dense deposit disease: A case report and literature review.

Clinical Nephrology. Case Studies

Kasahara, Katsuaki K; Gotoh, Yoshimitsu Y; Majima, Hisakazu H; Takeda, Asami A; Mizuno, Masashi M

Publication Date: 2020

Variant appearance in text: CFH: Q672Q

PubMed Link: 33329990

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular Studies and an ex vivo Complement Assay on Endothelium Highlight the Genetic Complexity of Atypical Hemolytic Uremic Syndrome: The Case of a Pedigree With a Null CD46 Variant.

Frontiers In Medicine

Piras, Rossella R; Iatropoulos, Paraskevas P; Bresin, Elena E; Todeschini, Marta M; Gastoldi, Sara S; Valoti, Elisabetta E; Alberti, Marta M; Mele, Caterina C; Galbusera, Miriam M; Cuccarolo, Paola P; Benigni, Ariela A; Remuzzi, Giuseppe G; Noris, Marina M

Publication Date: 2020

Variant appearance in text: CFH: 2016A>G; Q672Q; rs3753396

PubMed Link: 33224962

Variant Present in the following documents:

• Main text

View BVdb publication page

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Use of Eculizumab in Transplant-Associated Thrombotic Microangiopathy in a Patient With Polycystic Kidney Disease Immediately Post-Kidney Transplant: A Case Report.

Kidney Medicine

Godara, Amandeep A; Migliozzi, Daniel R DR; Pilichowska, Monika M; Goyal, Nitender N; Varga, Cindy C; Gordon, Craig E CE

Publication Date: 2020

Variant appearance in text: CFH: 2016A>G; Gln672Gln

PubMed Link: 33089142

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Identification of a New Complement Factor H Mutation in a Patient With Pregnancy-Related Acute Kidney Injury.

Kidney International Reports

Santoro, Domenico D; La Russa, Antonella A; Toteda, Giuseppina G; Perri, Anna A; Vizza, Donatella D; Lupinacci, Simona S; Lofaro, Danilo D; Pellicanò, Vincenzo V; Granese, Roberta R; Versaci, Antonio A; Siligato, Rossella R; Piccoli, Giorgina Barbara GB; Bonofiglio, Renzo R

Publication Date: 2020-09

Variant appearance in text: CFH: 2016A>G; Gln672Gln; rs3753396

PubMed Link: 32954088

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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A very early diagnosis of Alstrӧm syndrome by next generation sequencing.

Bmc Medical Genetics

Gatticchi, Leonardo L; Miertus, Jan J; Maltese, Paolo Enrico PE; Bressan, Simone S; De Antoni, Luca L; Podracká, Ludmila L; Piteková, Lucia L; Rísová, Vanda V; Mällo, Mari M; Jaakson, Kaie K; Joost, Kairit K; Colombo, Leonardo L; Bertelli, Matteo M

Publication Date: 2020-09-01

Variant appearance in text: CFH: 2016A>G

PubMed Link: 32867697

Variant Present in the following documents:

• 12881_2020_1110_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Sex Differences in Clinical Presentation and Outcomes among Patients with Complement-Gene-Variant-Mediated Thrombotic Microangiopathy.

Journal Of Clinical Medicine

Aigner, Christof C; Gaggl, Martina M; Kain, Renate R; Prohászka, Zoltán Z; Garam, Nóra N; Csuka, Dorottya D; Sunder-Plassmann, Raute R; Piggott, Leah Charlotte LC; Haninger-Vacariu, Natalja N; Schmidt, Alice A; Sunder-Plassmann, Gere G

Publication Date: 2020-03-31

Variant appearance in text: rs3753396

PubMed Link: 32244370

Variant Present in the following documents:

• Main text
• jcm-09-00964.pdf

View BVdb publication page

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Human genetics of meningococcal infections.

Human Genetics

Hodeib, Stephanie S; Herberg, Jethro A JA; Levin, Michael M; Sancho-Shimizu, Vanessa V

Publication Date: 2020-06

Variant appearance in text: rs3753396

PubMed Link: 32067109

Variant Present in the following documents:

• Main text
• 439_2020_Article_2128.pdf

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: CFH: 2016A>G; Q672Q; rs3753396

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Atypical haemolytic-uraemic syndrome in patient with metastatic colorectal cancer treated with fluorouracil and oxaliplatin: a case report and a review of literature.

Esmo Open

Viscardi, Giuseppe G; Zanaletti, Nicoletta N; Ferrara, Maria Giovanna MG; Sica, Antonello A; Falcone, Umberto U; Guastafierro, Salvatore S; Bracale, Umberto U; Ribero, Dario D; Fasano, Morena M; Napolitano, Stefania S; Vitale, Pasquale P; De Falco, Vincenzo V; Giunta, Emilio Francesco EF; Martinelli, Erika E; Ciardiello, Davide D; Ciardiello, Fortunato F; Troiani, Teresa T

Publication Date: 2019

Variant appearance in text: CFH: 2016A>G

PubMed Link: 31673427

Variant Present in the following documents:

• Main text
• esmoopen-2019-000551.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: CFH: 2016A>G; Gln672=; rs3753396

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: CFH: Q672Q; rs3753396

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Host genetic variability and pneumococcal disease: a systematic review and meta-analysis.

Bmc Medical Genomics

Kloek, Anne T AT; Brouwer, Matthijs C MC; van de Beek, Diederik D

Publication Date: 2019-09-13

Variant appearance in text: rs3753396

PubMed Link: 31519222

Variant Present in the following documents:

• Main text

View BVdb publication page

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Impact of a Complement Factor H Gene Variant on Renal Dysfunction, Cardiovascular Events, and Response to ACE Inhibitor Therapy in Type 2 Diabetes.

Frontiers In Genetics

Valoti, Elisabetta E; Noris, Marina M; Perna, Annalisa A; Rurali, Erica E; Gherardi, Giulia G; Breno, Matteo M; Parvanova Ilieva, Aneliya A; Petrov Iliev, Ilian I; Bossi, Antonio A; Trevisan, Roberto R; Dodesini, Alessandro Roberto AR; Ferrari, Silvia S; Stucchi, Nadia N; Benigni, Ariela A; Remuzzi, Giuseppe G; Ruggenenti, Piero P

Publication Date: 2019

Variant appearance in text: CFH: Q672Q; rs3753396

PubMed Link: 31428128

Variant Present in the following documents:

• Main text
• fgene-10-00681.pdf

View BVdb publication page

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Common Genetic Variants in the Complement System and their Potential Link with Disease Susceptibility and Outcome of Invasive Bacterial Infection.

Journal Of Innate Immunity

van den Broek, Bryan B; van der Flier, Michiel M; de Groot, Ronald R; de Jonge, Marien I MI; Langereis, Jeroen D JD

Publication Date: 2020

Variant appearance in text: rs3753396

PubMed Link: 31269507

Variant Present in the following documents:

• Main text

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: CFH: 2016A>G

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Rare Functional Variants in Complement Genes and Anti-FH Autoantibodies-Associated aHUS.

Frontiers In Immunology

Valoti, Elisabetta E; Alberti, Marta M; Iatropoulos, Paraskevas P; Piras, Rossella R; Mele, Caterina C; Breno, Matteo M; Cremaschi, Alessandra A; Bresin, Elena E; Donadelli, Roberta R; Alizzi, Silvia S; Amoroso, Antonio A; Benigni, Ariela A; Remuzzi, Giuseppe G; Noris, Marina M

Publication Date: 2019

Variant appearance in text: CFH: 2016A>G; rs3753396

PubMed Link: 31118930

Variant Present in the following documents:

• Main text
• fimmu-10-00853.pdf

View BVdb publication page

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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: rs3753396

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs3753396

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs3753396

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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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: CFH: 2016A>G; rs3753396

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Complement-mediated thrombotic microangiopathy associated with lupus nephritis.

Blood Advances

Park, Mi Hee MH; Caselman, Nicholas N; Ulmer, Scott S; Weitz, Ilene Ceil IC

Publication Date: 2018-08-28

Variant appearance in text: CFH: GLN672GLN

PubMed Link: 30131343

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetics, Genomics, and Precision Medicine in End-Stage Kidney Disease.

Seminars In Nephrology

Kopp, Jeffrey B JB; Winkler, Cheryl A CA

Publication Date: 2018-07

Variant appearance in text: rs3753396

PubMed Link: 30082052

Variant Present in the following documents:

• Main text

View BVdb publication page

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Role of the Complement System in Chronic Central Serous Chorioretinopathy: A Genome-Wide Association Study.

Jama Ophthalmology

Schellevis, Rosa L RL; van Dijk, Elon H C EHC; Breukink, Myrte B MB; Altay, Lebriz L; Bakker, Bjorn B; Koeleman, Bobby P C BPC; Kiemeney, Lambertus A LA; Swinkels, Dorine W DW; Keunen, Jan E E JEE; Fauser, Sascha S; Hoyng, Carel B CB; den Hollander, Anneke I AI; Boon, Camiel J F CJF; de Jong, Eiko K EK

Publication Date: 2018-10-01

Variant appearance in text: rs3753396

PubMed Link: 30073298

Variant Present in the following documents:

• Main text

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: CFH: 2016A>G; Q672Q; rs3753396

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7

View BVdb publication page

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How many single-nucleotide polymorphisms (SNPs) must be tested in order to prove susceptibility to bacterial meningitis in children? Analysis of 11 SNPs in seven genes involved in the immune response and their effect on the susceptibility to bacterial meningitis in children.

Innate Immunity

Gowin, Ewelina E; Świątek-Kościelna, Bogna B; Kałużna, Ewelina E; Strauss, Ewa E; Wysocki, Jacek J; Nowak, Jerzy J; Michalak, Michał M; Januszkiewicz-Lewandowska, Danuta D

Publication Date: 2018-04

Variant appearance in text: rs3753396

PubMed Link: 29534633

Variant Present in the following documents:

• Main text
• 10.1177_1753425918762038.pdf

View BVdb publication page

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: CFH: Q672Q; rs3753396

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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Natural resistance to Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association studies.

Scientific Reports

Martinón-Torres, Federico F; Png, Eileen E; Khor, Chiea Chuen CC; Davila, Sonia S; Wright, Victoria J VJ; Sim, Kar Seng KS; Vega, Ana A; Fachal, Laura L; Inwald, David D; Nadel, Simon S; Carrol, Enitan D ED; Martinón-Torres, Nazareth N; Alonso, Sonia Marcos SM; Carracedo, Angel A; Morteruel, Elvira E; López-Bayón, Julio J; Torre, Andrés Concha AC; Monge, Cristina Calvo CC; de Aguilar, Pilar Azcón González PA; Torné, Elisabeth Esteban EE; Martínez-Padilla, María Del Carmen MD; Martinón-Sánchez, José María JM; Levin, Michael M; Hibberd, Martin L ML; Salas, Antonio A; , ; , ; ,

Publication Date: 2016-11-02

Variant appearance in text: CFH: Gln672Gln; rs3753396

PubMed Link: 27805046

Variant Present in the following documents:

• Main text

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Severe active C3 glomerulonephritis triggered by immune complexes and inactivated after eculizumab therapy.

Diagnostic Pathology

Kersnik Levart, Tanja T; Ferluga, Dušan D; Vizjak, Alenka A; Mraz, Jerica J; Kojc, Nika N

Publication Date: 2016-10-07

Variant appearance in text: CFH: Q672Q

PubMed Link: 27717365

Variant Present in the following documents:

• Main text

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Atypical Hemolytic Uremic Syndrome Recurrence after Renal Transplantation: C3-Glomerulonephritis as an Initial Presentation.

Transplantation Direct

Bouatou, Yassine Y; Bacchi, Véronique Frémeaux VF; Villard, Jean J; Moll, Solange S; Martin, Pierre-Yves PY; Hadaya, Karine K

Publication Date: 2015-03

Variant appearance in text: CFH: 2016A>G; Gln672Gln; rs3753396

PubMed Link: 27500215

Variant Present in the following documents:

• Main text
• txd-1-0e9.pdf

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AMD Genetics in India: The Missing Links.

Frontiers In Aging Neuroscience

Anand, Akshay A; Sharma, Kaushal K; Sharma, Suresh K SK; Singh, Ramandeep R; Sharma, Neel K NK; Prasad, Keshava K

Publication Date: 2016

Variant appearance in text: rs3753396

PubMed Link: 27252648

Variant Present in the following documents:

• Main text
• fnagi-08-00115.pdf

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