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Page 1
Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes-Brocks syndrome 2.
Christians A, Kesdiren E, Hennies I, Hofmann A, Trowe MO, Brand F, Martens H, Gjerstad AC, Gucev Z, Zirngibl M, Geffers R, Seeman T, Billing H, Bjerre A, Tasic V, Kispert A, Ure B, Haffner D, Dingemann J, Weber RG. Christians A, et al. Among authors: billing h. Hum Genet. 2023 Jan;142(1):73-88. doi: 10.1007/s00439-022-02481-6. Epub 2022 Sep 6. Hum Genet. 2023. PMID: 36066768 Free PMC article.
Different approaches to long-term treatment of aHUS due to MCP mutations: a multicenter analysis.
Klämbt V, Gimpel C, Bald M, Gerken C, Billing H, Loos S, Hansen M, König J, Vinke T, Montoya C, Lange-Sperandio B, Kirschstein M, Hennies I, Pohl M, Häffner K. Klämbt V, et al. Among authors: billing h. Pediatr Nephrol. 2021 Feb;36(2):463-471. doi: 10.1007/s00467-020-04714-0. Epub 2020 Jul 26. Pediatr Nephrol. 2021. PMID: 32715379 Free PMC article.
Correction to: Different approaches to long-term treatment of aHUS due to MCP mutations: a multicenter analysis.
Klämbt V, Gimpel C, Bald M, Gerken C, Billing H, Loos S, Hansen M, König J, Vinke T, Montoya C, Lange-Sperandio B, Kirschstein M, Hennies I, Pohl M, Häffner K. Klämbt V, et al. Among authors: billing h. Pediatr Nephrol. 2021 Dec;36(12):4015. doi: 10.1007/s00467-021-05292-5. Pediatr Nephrol. 2021. PMID: 34553238 Free PMC article. No abstract available.
Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis.
Nießl C, Boulesteix AL, Oh J, Palm K, Schlingmann P, Wygoda S, Haffner D, Wühl E, Tönshoff B, Buescher A, Billing H, Hoppe B, Zirngibl M, Kettwig M, Moeller K, Acham-Roschitz B, Arbeiter K, Bald M, Benz M, Galiano M, John-Kroegel U, Klaus G, Marx-Berger D, Moser K, Mueller D, Patzer L, Pohl M, Seitz B, Treikauskas U, von Vigier RO, Gahl WA, Hohenfellner K. Nießl C, et al. Among authors: billing h. Mol Genet Metab. 2022 Aug;136(4):268-273. doi: 10.1016/j.ymgme.2022.06.010. Epub 2022 Jul 2. Mol Genet Metab. 2022. PMID: 35835062 Free PMC article.
Morphological changes and their associations with clinical parameters in children with nephropathic cystinosis and chronic kidney disease prior to kidney replacement therapy over 25 years.
Brügelmann M, Müller S, Bohlen AV, Hohenfellner K, Büscher A, Kemper MJ, Fröde K, Kanzelmeyer N, Oh J, Billing H, Gellermann J, Müller D, Weber LT, Acham-Roschitz B, Arbeiter K, Tönshoff B, Hagenberg M, Žebec MS, Haffner D, Zivicnjak M. Brügelmann M, et al. Among authors: billing h. Pediatr Nephrol. 2024 Oct;39(10):3067-3077. doi: 10.1007/s00467-024-06421-6. Epub 2024 Jun 8. Pediatr Nephrol. 2024. PMID: 38850407 Free PMC article.
Age-related stature and linear body segments in children with X-linked hypophosphatemic rickets.
Zivičnjak M, Schnabel D, Billing H, Staude H, Filler G, Querfeld U, Schumacher M, Pyper A, Schröder C, Brämswig J, Haffner D; Hypophosphatemic Rickets Study Group of Arbeitsgemeinschaft für Pädiatrische Endokrinologie and Gesellschaft für Pädiatrische Nephrologie. Zivičnjak M, et al. Among authors: billing h. Pediatr Nephrol. 2011 Feb;26(2):223-31. doi: 10.1007/s00467-010-1705-9. Epub 2010 Dec 1. Pediatr Nephrol. 2011. PMID: 21120538
Three-year growth hormone treatment in short children with X-linked hypophosphatemic rickets: effects on linear growth and body disproportion.
Živičnjak M, Schnabel D, Staude H, Even G, Marx M, Beetz R, Holder M, Billing H, Fischer DC, Rabl W, Schumacher M, Hiort O, Haffner D; Hypophosphatemic Rickets Study Group of the Arbeitsgemeinschaft für Pädiatrische Endokrinologie and Gesellschaft für Pädiatrische Nephrologie. Živičnjak M, et al. Among authors: billing h. J Clin Endocrinol Metab. 2011 Dec;96(12):E2097-105. doi: 10.1210/jc.2011-0399. Epub 2011 Oct 12. J Clin Endocrinol Metab. 2011. PMID: 21994957 Clinical Trial.
Rationale, design and objectives of ARegPKD, a European ARPKD registry study.
Ebner K, Feldkoetter M, Ariceta G, Bergmann C, Buettner R, Doyon A, Duzova A, Goebel H, Haffner D, Hero B, Hoppe B, Illig T, Jankauskiene A, Klopp N, König J, Litwin M, Mekahli D, Ranchin B, Sander A, Testa S, Weber LT, Wicher D, Yuzbasioglu A, Zerres K, Dötsch J, Schaefer F, Liebau MC; ESCAPE Study Group; GPN Study Group. Ebner K, et al. BMC Nephrol. 2015 Feb 18;16:22. doi: 10.1186/s12882-015-0002-z. BMC Nephrol. 2015. PMID: 25886171 Free PMC article.
Effects of growth hormone treatment on adult height in severely short children with X-linked hypophosphatemic rickets.
Meyerhoff N, Haffner D, Staude H, Wühl E, Marx M, Beetz R, Querfeld U, Holder M, Billing H, Rabl W, Schröder C, Hiort O, Brämswig JH, Richter-Unruh A, Schnabel D, Živičnjak M; Hypophosphatemic Rickets Study Group of the “Deutsche Gesellschaft für Kinderendokrinologie und -diabetologie” and “Gesellschaft für Pädiatrische Nephrologie”. Meyerhoff N, et al. Among authors: billing h. Pediatr Nephrol. 2018 Mar;33(3):447-456. doi: 10.1007/s00467-017-3820-3. Epub 2017 Oct 20. Pediatr Nephrol. 2018. PMID: 29058153 Clinical Trial.
67 results