PuSH - Publication Server of Helmholtz Zentrum München

25 Records found.
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1.
Wagner, M. et al.: Mitochondrial DNA mutation analysis from exome sequencing - a more holistic approach in diagnostics of suspected mitochondrial disease. J. Inherit. Metab. Dis., accepted (2019)
2.
Pastor-Arroyo, E.M.* et al.: The elevation of circulating fibroblast growth factor 23 without kidney disease does not increase cardiovascular disease risk. Kidney Int. 94, 49-59 (2018)
3.
Diener, S. et al.: Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia. Mamm. Genome 27, 111-121 (2016)
4.
Fuchs, H. et al.: The first Scube3 mutant mouse line with pleiotropic phenotypic alterations. Genes Genomes Genetics G3 6, 4035-4046 (2016)
5.
Sabrautzki, S. et al.: Viable EdnraY129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation. Mamm. Genome 27, 587-598 (2016)
6.
Diener, S. ; Schorpp, K.K. ; Strom, T.M. ; Hadian, K. & Lorenz-Depiereux, B.: Development of a cell-based assay to identify small molecule inhibitors of FGF23 signaling. Assay Drug Dev. Technol. 13, 476-487 (2015)
7.
Hadchouel, A.* et al.: Biallelic mutations of methionyl-tRNA synthetase cause a specific type of pulmonary alveolar proteinosis prevalent on Réunion Island. Am. J. Hum. Genet. 96, 826-831 (2015)
8.
Steichen-Gersdorf, E.* ; Lorenz-Depiereux, B. ; Strom, T.M. & Shaw, N.J.*: Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1. J. Pediatr. Endocrinol. Metab. 28, 967-970 (2015)
9.
Pekkarinen, T.A.* ; Lorenz-Depiereux, B. ; Lohman, M.* & Mäkitie, O.M.*: Unusually severe hypophosphatemic rickets caused by a novel and complex re-arrangement of the PHEX gene. Am. J. Med. Genet. A 164, 2931-2937 (2014)
10.
Sabrautzki, S. et al.: An ENU mutagenesis-derived mouse model with a dominant Jak1 mutation resembling phenotypes of systemic autoimmune disease. Am. J. Pathol. 183, 352-368 (2013)
11.
Sabrautzki, S. et al.: New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis. Mamm. Genome 23, 416-430 (2012)
12.
Greif, P.A. et al.: Identification of recurring tumor-specific somatic mutations in acute myeloid leukemia by transcriptome sequencing. Leukemia 25, 821-827 (2011)
13.
Horn, D.* et al.: Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. Hum. Mutat. 31, E1851-E1860 (2010)
14.
Lorenz-Depiereux, B. ; Schnabel, D.* ; Tiosano, D.* ; Häusler, G.* & Strom, T.M.: Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. Am. J. Hum. Genet. 86, 267-272 (2010)
15.
Rutsch, F.* et al.: Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. Circ. Cardiovasc. Genet. 1, 133-40 (2008)
16.
Wagenstaller, J. et al.: Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. Am. J. Hum. Genet. 81, 768-779 (2007)
17.
Kato, K.* et al.: Polypeptide GaINAc-transferase T3 and familial tumoral calcinosis. J. Biol. Chem. 281, 18370-18377 (2006)
18.
Lorenz-Depiereux, B. et al.: DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nat. Genet. 38, 1248-1250 (2006)
19.
Lorenz-Depiereux, B. et al.: Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. Am. J. Hum. Genet. 78, 193-201 (2006)
20.
Benet-Pagès, A. ; Orlik, P.* ; Strom, T.M. & Lorenz-Depiereux, B.: An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. Hum. Mol. Genet. 14, 385-390 (2005)