U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 117

1.
Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study
Vicky Brocklebank, Patrick R. Walsh, Kate Smith-Jackson, Thomas M. Hallam, Kevin J. Marchbank, Valerie Wilson, Theophile Bigirumurame, Tina Dutt, Emma K. Montgomery, Michal Malina, Edwin K. S. Wong, Sally Johnson, Neil S. Sheerin, David Kavanagh, NRCTC aHUS Research Consortium
Blood. 2023 Oct 19; 142(16): 1371–1386. Published online 2023 Jun 29. doi: 10.1182/blood.2022018833
PMCID:
PMC10651868
ArticlePubReaderCite
2.
A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome
Nur Canpolat, Dingxiao Liu, Emine Atayar, Seha Saygili, Nazli Sila Kara, Trudi A. Westfall, Qiong Ding, Bartley J. Brown, Terry A. Braun, Diane Slusarski, Kader Karli Oguz, Yasemin Ozluk, Beyhan Tuysuz, Tugba Tastemel Ozturk, Lale Sever, Osman Ugur Sezerman, Rezan Topaloglu, Salim Caliskan, Massimo Attanasio, Fatih Ozaltin
Clin Genet. Author manuscript; available in PMC 2023 Jul 20.
Published in final edited form as: Clin Genet. 2022 Mar; 101(3): 346–358. Published online 2022 Jan 7. doi: 10.1111/cge.14105
PMCID:
PMC10357464
ArticlePubReaderPDF–1.6MCite
3.
The Use of Eculizumab for the Treatment of Atypical Hemolytic Uremic Syndrome in an Academic Hematology Center
Katharine Thomas, Aneesha Ananthula, Ruby Lopez-Flores, Alejandra del Toro, Andrew G Chapple, Michelle Loch
Perm J. 2023; 27(2): 23–30. Published online 2023 Jan 31. doi: 10.7812/TPP/22.073
PMCID:
PMC10266857
ArticlePubReaderPDF–1.0MCite
4.
CFH-CFHR1 hybrid genes in two cases of atypical hemolytic uremic syndrome
Yuka Sugawara, Hideki Kato, Masao Nagasaki, Yoko Yoshida, Madoka Fujisawa, Naoko Minegishi, Masayuki Yamamoto, Masaomi Nangaku
J Hum Genet. 2023; 68(6): 427–430. Published online 2023 Feb 9. doi: 10.1038/s10038-023-01129-1
PMCID:
PMC10208952
ArticlePubReaderPDF–1.6MCite
5.
Whole exome sequencing identifies monogenic forms of nephritis in a previously unsolved cohort of children with steroid-resistant nephrotic syndrome and hematuria
Hongbo Xiao, Friedhelm Hildebrandt
Pediatr Nephrol. Author manuscript; available in PMC 2023 Mar 28.
Published in final edited form as: Pediatr Nephrol. 2022 Jul; 37(7): 1567–1574. Published online 2021 Nov 11. doi: 10.1007/s00467-021-05312-4
PMCID:
PMC10043783
ArticlePubReaderPDF–345KCite
6.
Mutations in the alternative complement pathway in multiple myeloma patients with carfilzomib-induced thrombotic microangiopathy
Maria Moscvin, Christine Ivy Liacos, Tianzeng Chen, Foteini Theodorakakou, Despina Fotiou, Shahrier Hossain, Sean Rowell, Houry Leblebjian, Eileen Regan, Peter Czarnecki, Filippo Bagnoli, Niccolo’ Bolli, Paul Richardson, Helmut G. Rennke, Meletios A. Dimopoulos, Efstathios Kastritis, Giada Bianchi
Blood Cancer J. 2023 Dec; 13(1): 31. Published online 2023 Feb 27. doi: 10.1038/s41408-023-00802-0
PMCID:
PMC9971259
ArticlePubReaderPDF–871KCite
7.
An ex vivo test to investigate genetic factors conferring susceptibility to atypical haemolytic uremic syndrome
Sara Gastoldi, Sistiana Aiello, Miriam Galbusera, Matteo Breno, Marta Alberti, Elena Bresin, Caterina Mele, Rossella Piras, Lucia Liguori, Donata Santarsiero, Ariela Benigni, Giuseppe Remuzzi, Marina Noris
Front Immunol. 2023; 14: 1112257. Published online 2023 Feb 9. doi: 10.3389/fimmu.2023.1112257
PMCID:
PMC9949374
ArticlePubReaderPDF–2.2MCite
8.
CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcome
Rossella Piras, Elisabetta Valoti, Marta Alberti, Elena Bresin, Caterina Mele, Matteo Breno, Lucia Liguori, Roberta Donadelli, Miriam Rigoldi, Ariela Benigni, Giuseppe Remuzzi, Marina Noris
Front Immunol. 2022; 13: 1011580. Published online 2023 Jan 30. doi: 10.3389/fimmu.2022.1011580
PMCID:
PMC9923232
ArticlePubReaderPDF–8.0MCite
9.
Complement gene variant effect on relapse of complement-mediated thrombotic microangiopathy after eculizumab cessation
Aldo A. Acosta-Medina, Ann M. Moyer, Ronald S. Go, Maria Alice V. Willrich, Fernando C. Fervenza, Nelson Leung, Christianne Bourlon, Jeffrey L. Winters, Grant M. Spears, Sandra C. Bryant, Meera Sridharan, Mayo Clinic Complement Alternative Pathway-Thrombotic Microangiopathy (CAP-TMA) Disease-Oriented Group
Blood Adv. 2023 Feb 14; 7(3): 340–350. Published online 2022 May 11. doi: 10.1182/bloodadvances.2021006416
PMCID:
PMC9881046
ArticlePubReaderPDF–365KCite
10.
National experience with adenosine deaminase deficiency related SCID in Polish children
Nel Dąbrowska-Leonik, Barbara Piątosa, Ewa Słomińska, Nadezda Bohynikova, Katarzyna Bernat-Sitarz, Ewa Bernatowska, Beata Wolska-Kuśnierz, Krzysztof Kałwak, Sylwia Kołtan, Anna Dąbrowska, Jolanta Goździk, Marek Ussowicz, Małgorzata Pac
Front Immunol. 2022; 13: 1058623. Published online 2023 Jan 6. doi: 10.3389/fimmu.2022.1058623
PMCID:
PMC9853035
ArticlePubReaderPDF–899KCite
11.
Novel homozygous CD46 variant with C‐isoform expression affects C3b inactivation in atypical hemolytic uremic syndrome
Vivien R. Schack, Morten K. Herlin, Henrik Pedersen, J. Magnus Bernth Jensen, Mia Færch, Bettina Bundgaard, Rasmus K. Jensen, Uffe B. Jensen, Rikke Christensen, Gregers R. Andersen, Steffen Thiel, Per Höllsberg
Eur J Immunol. 2022 Oct; 52(10): 1610–1619. Published online 2022 Aug 31. doi: 10.1002/eji.202249838
PMCID:
PMC9804674
ArticlePubReaderPDF–1.4MCite
12.
Case report: Novel FHR2 variants in atypical Hemolytic Uremic Syndrome: A case study of a translational medicine approach in renal transplantation
Emma Diletta Stea, Christine Skerka, Matteo Accetturo, Francesco Pesce, Thorsten Wiech, Andrea Hartman, Paola Pontrelli, Francesca Conserva, Giuseppe Castellano, Peter F. Zipfel, Loreto Gesualdo
Front Immunol. 2022; 13: 1008294. Published online 2022 Nov 14. doi: 10.3389/fimmu.2022.1008294
PMCID:
PMC9703090
ArticlePubReaderPDF–1.4MCite
13.
Genetic variation in genes of inborn errors of immunity in children with unexplained encephalitis
Devesh Malik, Dennis W. Simon, Kavita Thakkar, Deepa S. Rajan, Kate F. Kernan
Genes Immun. 2022; 23(7): 235–239. Published online 2022 Oct 5. doi: 10.1038/s41435-022-00185-5
PMCID:
PMC9533258
ArticlePubReaderPDF–725KCite
14.
Atypical Hemolytic Uremic Syndrome Occurring After Receipt of mRNA-1273 COVID-19 Vaccine Booster: A Case Report
Kathleen J. Claes, Inge Geerts, Wim Lemahieu, Alexander Wilmer, Dirk R.J. Kuypers, Priyanka Koshy, Sara Ombelet
Am J Kidney Dis. 2023 Mar; 81(3): 364–367. Published online 2022 Sep 19. doi: 10.1053/j.ajkd.2022.07.012
PMCID:
PMC9484133
ArticlePubReaderPDF–1.0MCite
15.
Clinical features of children with anti-CFH autoantibody-associated hemolytic uremic syndrome: a report of 8 cases
Qian Li, Xinxin Kong, Minle Tian, Jing Wang, Zhenle Yang, Lichun Yu, Suwen Liu, Cong Wang, Xiaoyuan Wang, Shuzhen Sun
Ren Fail. 2022; 44(1): 1061–1069. Published online 2022 Jun 22. doi: 10.1080/0886022X.2022.2089167
PMCID:
PMC9225730
ArticlePubReaderPDF–1.2MCite
16.
Pregnancy in Women with Atypical Hemolytic Uremic Syndrome
Eric Rondeau, Gianluigi Ardissino, Marie-Pierre Caby-Tosi, Imad Al-Dakkak, Fadi Fakhouri, Benjamin Miller, Marie Scully
Nephron Clin Pract. 2022 Jan; 146(1): 1–10. Published online 2021 Sep 7. doi: 10.1159/000518171
PMCID:
PMC8820436
ArticlePubReaderCite
17.
Anti-factor H antibody associated hemolytic uremic syndrome following SARS-CoV-2 infection
Priyanka Khandelwal, Sudarsan Krishnasamy, Srinivasavaradan Govindarajan, Manish Kumar, Binata Marik, Aditi Sinha, Pankaj Hari, Arvind Bagga
Pediatr Nephrol. 2022; 37(9): 2151–2156. Published online 2022 Jan 28. doi: 10.1007/s00467-021-05390-4
PMCID:
PMC8796738
ArticlePubReaderPDF–620KCite
18.
Improved Molecular Diagnosis and Culture of the Emerging Heteropathotype Enterohemorrhagic Escherichia coli O80:H2 Using Its Non-Melibiose-Fermenting and Antibiotic-Resistance Properties
Etienne Bizot, Aurélie Cointe, Natacha Smadja, Delphine Sergentet, Sophie Lefèvre, François-Xavier Weill, Corinne Levy, Robert Cohen, Patricia Mariani-Kurkdjian, Stéphane Bonacorsi
J Clin Microbiol. 2022 Jan; 60(1): e01530-21. Prepublished online 2021 Sep 29. Published online 2022 Jan 19. doi: 10.1128/JCM.01530-21
PMCID:
PMC8769747
ArticlePubReaderPDF–712KCite
19.
Case Report: Combined Liver-Kidney Transplantation to Correct a Mutation in Complement Factor B in an Atypical Hemolytic Uremic Syndrome Patient
Margarita López-Trascasa, Ángel Alonso-Melgar, Marta Melgosa-Hijosa, Laura Espinosa-Román, María Dolores Lledín-Barbancho, Eugenia García-Fernández, Santiago Rodríguez de Córdoba, Pilar Sánchez-Corral
Front Immunol. 2021; 12: 751093. Published online 2021 Oct 14. doi: 10.3389/fimmu.2021.751093
PMCID:
PMC8551365
ArticlePubReaderPDF–2.8MCite
20.
Thrombotic microangiopathy associated with arboviral infection: Report of 3 cases
José Luiz Coelho Júnior, Karla Cristina Petruccelli Israel, Carlos Eduardo Everton Machado, Monique Pereira Rêgo Muniz, Giuseppe Cesare Gatto, Flávio Henrique Soares Barros, Kaile de Araújo Cunha, Marcus Vinícius Guimarães de Lacerda, Precil Diego Miranda de Menezes Neves, Gyl Eanes Barros Silva
PLoS Negl Trop Dis. 2021 Oct; 15(10): e0009790. Published online 2021 Oct 14. doi: 10.1371/journal.pntd.0009790
PMCID:
PMC8516303
ArticlePubReaderPDF–784KCite

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center