Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

72 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, Abdelrazek IM, Pantel JT, Hagen MT, Thong MK, Binti Mazlan RA, Tae SK, Kamphans T, Meiswinkel W, Li JM, Javanmardi B, Knaus A, Uwineza A, Knopp C, Tkemaladze T, Elbracht M, Mattern L, Jamra RA, Velmans C, Strehlow V, Jacob M, Peron A, Dias C, Nunes BC, Vilella T, Pinheiro IF, Kim CA, Melaragno MI, Weiland H, Kaptain S, Chwiałkowska K, Kwasniewski M, Saad R, Wiethoff S, Goel H, Tang C, Hau A, Barakat TS, Panek P, Nabil A, Suh J, Braun F, Gomy I, Averdunk L, Ekure E, Bergant G, Peterlin B, Graziano C, Gaboon N, Fiesco-Roa M, Spinelli AM, Wilpert NM, Phowthongkum P, Güzel N, Haack TB, Bitar R, Tzschach A, Rodriguez-Palmero A, Brunet T, Rudnik-Schöneborn S, Contreras-Capetillo SN, Oberlack A, Samango-Sprouse C, Sadeghin T, Olaya M, Platzer K, Borovikov A, Schnabel F, Heuft L, Herrmann V, Oegema R, Elkhateeb N, Kumar S, Komlosi K, Mohamed K, Kalantari S, Sirchia F, Martinez-Monseny AF, Höller M, Toutouna L, Mohamed A, Lasa-Aranzasti A, Sayer JA, Ehmke N, Danyel M, Sczakiel H, Schwartzmann S, Boschann F, Zhao M, Adam R, Einicke L, Horn D, Chew KS, Kam CC, Karakoyun M, Pode-Shakked B, Eliyahu A, Rock R, Carrion T, Chorin O, … See abstract for full author list ➔ Lesmann H, et al. Among authors: olinger e. Res Sq [Preprint]. 2024 Jun 10:rs.3.rs-4438861. doi: 10.21203/rs.3.rs-4438861/v1. Res Sq. 2024. PMID: 38903062 Free PMC article. Preprint.
UMOD and you! Explaining a rare disease diagnosis.
Mabillard H, Olinger E, Sayer JA. Mabillard H, et al. Among authors: olinger e. J Rare Dis (Berlin). 2022;1(1):4. doi: 10.1007/s44162-022-00005-4. Epub 2022 Dec 7. J Rare Dis (Berlin). 2022. PMID: 36569465 Free PMC article. Review.
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, Abdelrazek IM, Pantel JT, Ten Hagen M, Thong MK, Binti Mazlan RA, Tae SK, Kamphans T, Meiswinkel W, Li JM, Javanmardi B, Knaus A, Uwineza A, Knopp C, Tkemaladze T, Elbracht M, Mattern L, Jamra RA, Velmans C, Strehlow V, Jacob M, Peron A, Dias C, Nunes BC, Vilella T, Pinheiro IF, Kim CA, Melaragno MI, Weiland H, Kaptain S, Chwiałkowska K, Kwasniewski M, Saad R, Wiethoff S, Goel H, Tang C, Hau A, Barakat TS, Panek P, Nabil A, Suh J, Braun F, Gomy I, Averdunk L, Ekure E, Bergant G, Peterlin B, Graziano C, Gaboon N, Fiesco-Roa M, Spinelli AM, Wilpert NM, Phowthongkum P, Güzel N, Haack TB, Bitar R, Tzschach A, Rodriguez-Palmero A, Brunet T, Rudnik-Schöneborn S, Contreras-Capetillo SN, Oberlack A, Samango-Sprouse C, Sadeghin T, Olaya M, Platzer K, Borovikov A, Schnabel F, Heuft L, Herrmann V, Oegema R, Elkhateeb N, Kumar S, Komlosi K, Mohamed K, Kalantari S, Sirchia F, Martinez-Monseny AF, Höller M, Toutouna L, Mohamed A, Lasa-Aranzasti A, Sayer JA, Ehmke N, Danyel M, Sczakiel H, Schwartzmann S, Boschann F, Zhao M, Adam R, Einicke L, Horn D, Chew KS, Kam CC, Karakoyun M, Pode-Shakked B, Eliyahu A, Rock R, Carrion T, Chorin … See abstract for full author list ➔ Lesmann H, et al. Among authors: olinger e. medRxiv [Preprint]. 2024 May 21:2023.06.06.23290887. doi: 10.1101/2023.06.06.23290887. medRxiv. 2024. PMID: 37503210 Free PMC article. Preprint.
Routine Urinary Biochemistry Does Not Accurately Predict Stone Type Nor Recurrence in Kidney Stone Formers: A Multicentre, Multimodel, Externally Validated Machine-Learning Study.
Geraghty RM, Wilson I, Olinger E, Cook P, Troup S, Kennedy D, Rogers A, Somani BK, Dhayat NA, Fuster DG, Sayer JA. Geraghty RM, et al. Among authors: olinger e. J Endourol. 2023 Dec;37(12):1295-1304. doi: 10.1089/end.2023.0451. Epub 2023 Oct 31. J Endourol. 2023. PMID: 37830220
Eight-Fold Increased COVID-19 Mortality in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations: An Observational Study.
Kidd KO, Williams AH, Taylor A, Martin L, Robins V, Sayer JA, Olinger E, Mabillard HR, Papagregoriou G, Deltas C, Stavrou C, Conlon PJ, Hogan RE, Elhassan EAE, Springer D, Zima T, Izzi C, Vrbacká A, Piherová L, Pohludka M, Radina M, Vylet'al P, Hodanova K, Zivna M, Kmoch S, Bleyer AJ. Kidd KO, et al. Among authors: olinger e. medRxiv [Preprint]. 2024 Jul 4:2024.07.03.24309887. doi: 10.1101/2024.07.03.24309887. medRxiv. 2024. PMID: 39006416 Free PMC article. Preprint.
Progressive Kidney Failure by Angiotensinogen Inactivation in the Germline.
Wopperer FJ, Olinger E, Wiesener A, Broeker KAE, Knaup KX, Schaefer JT, Galiano M, Schneider K, Schiffer M; Genomics England Research Consortium; Büttner-Herold M, Reis A, Schmieder R, Pasutto F, Hilgers KF, Poglitsch M, Ziegler C, Shoemaker R, Sayer JA, Wiesener MS. Wopperer FJ, et al. Among authors: olinger e. Hypertension. 2024 Sep;81(9):1857-1868. doi: 10.1161/HYPERTENSIONAHA.124.22806. Epub 2024 Jul 15. Hypertension. 2024. PMID: 39005223
Prevalence and characteristics of genetic disease in adult kidney stone formers.
Anderegg MA, Olinger EG, Bargagli M, Geraghty R, Taylor L, Nater A, Bruggmann R, Sayer JA, Vogt B, Schaller A, Fuster DG. Anderegg MA, et al. Among authors: olinger eg. Nephrol Dial Transplant. 2024 Aug 30;39(9):1426-1441. doi: 10.1093/ndt/gfae074. Nephrol Dial Transplant. 2024. PMID: 38544324 Free article.
Monogenic Kidney Diseases in Kidney Transplantation.
Gillion V, Devresse A, Olinger E, Dahlqvist G, Demoulin N, Godefroid N, Claes K, Devuyst O, Kanaan N. Gillion V, et al. Among authors: olinger e. Kidney Int Rep. 2023 Dec 13;9(3):549-568. doi: 10.1016/j.ekir.2023.12.003. eCollection 2024 Mar. Kidney Int Rep. 2023. PMID: 38481491 Free PMC article. Review.
Uromodulin processing in DNAJB11-kidney disease.
Mariniello M, Schiano G, Yoshifuji A, Gillion V, Sayer JA, Jouret F; Genkyst Study Group; Le Meur Y, Cornec-Le Gall E, Olinger EG, Devuyst O. Mariniello M, et al. Among authors: olinger eg. Kidney Int. 2024 Feb;105(2):376-380. doi: 10.1016/j.kint.2023.11.008. Epub 2023 Nov 26. Kidney Int. 2024. PMID: 38016513 Free article. No abstract available.
72 results