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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: haffner d. 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.
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: haffner d. Pediatr Nephrol. 2011 Feb;26(2):223-31. doi: 10.1007/s00467-010-1705-9. Epub 2010 Dec 1. Pediatr Nephrol. 2011. PMID: 21120538
CHD1L: a new candidate gene for congenital anomalies of the kidneys and urinary tract (CAKUT).
Brockschmidt A, Chung B, Weber S, Fischer DC, Kolatsi-Joannou M, Christ L, Heimbach A, Shtiza D, Klaus G, Simonetti GD, Konrad M, Winyard P, Haffner D, Schaefer F, Weber RG. Brockschmidt A, et al. Among authors: haffner d. Nephrol Dial Transplant. 2012 Jun;27(6):2355-64. doi: 10.1093/ndt/gfr649. Epub 2011 Dec 6. Nephrol Dial Transplant. 2012. PMID: 22146311 Free article.
Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis.
Classen CF, Riehmer V, Landwehr C, Kosfeld A, Heilmann S, Scholz C, Kabisch S, Engels H, Tierling S, Zivicnjak M, Schacherer F, Haffner D, Weber RG. Classen CF, et al. Among authors: haffner d. Hum Genet. 2013 Jul;132(7):825-41. doi: 10.1007/s00439-013-1296-1. Epub 2013 Apr 4. Hum Genet. 2013. PMID: 23552953 Clinical Trial.
Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT).
Kosfeld A, Kreuzer M, Daniel C, Brand F, Schäfer AK, Chadt A, Weiss AC, Riehmer V, Jeanpierre C, Klintschar M, Bräsen JH, Amann K, Pape L, Kispert A, Al-Hasani H, Haffner D, Weber RG. Kosfeld A, et al. Among authors: haffner d. Hum Genet. 2016 Jan;135(1):69-87. doi: 10.1007/s00439-015-1610-1. Epub 2015 Nov 16. Hum Genet. 2016. PMID: 26572137
Induction of cardiac FGF23/FGFR4 expression is associated with left ventricular hypertrophy in patients with chronic kidney disease.
Leifheit-Nestler M, Große Siemer R, Flasbart K, Richter B, Kirchhoff F, Ziegler WH, Klintschar M, Becker JU, Erbersdobler A, Aufricht C, Seeman T, Fischer DC, Faul C, Haffner D. Leifheit-Nestler M, et al. Among authors: haffner d. Nephrol Dial Transplant. 2016 Jul;31(7):1088-99. doi: 10.1093/ndt/gfv421. Epub 2015 Dec 17. Nephrol Dial Transplant. 2016. PMID: 26681731 Free PMC article.
Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations.
Kosfeld A, Brand F, Weiss AC, Kreuzer M, Goerk M, Martens H, Schubert S, Schäfer AK, Riehmer V, Hennies I, Bräsen JH, Pape L, Amann K, Krogvold L, Bjerre A, Daniel C, Kispert A, Haffner D, Weber RG. Kosfeld A, et al. Among authors: haffner d. Hum Mol Genet. 2017 May 1;26(9):1716-1731. doi: 10.1093/hmg/ddx086. Hum Mol Genet. 2017. PMID: 28334964
340 results