Lorenz-Depiereux B - Search Results

1

Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation.

Wagenstaller J, Spranger S, Lorenz-Depiereux B, Kazmierczak B, Nathrath M, Wahl D, Heye B, Glaser D, Liebscher V, Meitinger T, Strom TM. Wagenstaller J, et al. Am J Hum Genet. 2007 Oct;81(4):768-79. doi: 10.1086/521274. Epub 2007 Aug 28. Am J Hum Genet. 2007. PMID: 17847001 Free PMC article.

2

The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted.

Grabowski M, Zimprich A, Lorenz-Depiereux B, Kalscheuer V, Asmus F, Gasser T, Meitinger T, Strom TM. Grabowski M, et al. Eur J Hum Genet. 2003 Feb;11(2):138-44. doi: 10.1038/sj.ejhg.5200938. Eur J Hum Genet. 2003. PMID: 12634861

3

New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice.

Lorenz-Depiereux B, Guido VE, Johnson KR, Zheng QY, Gagnon LH, Bauschatz JD, Davisson MT, Washburn LL, Donahue LR, Strom TM, Eicher EM. Lorenz-Depiereux B, et al. Mamm Genome. 2004 Mar;15(3):151-61. doi: 10.1007/s00335-003-2310-z. Mamm Genome. 2004. PMID: 15029877 Free PMC article.

4

FGF23 is processed by proprotein convertases but not by PHEX.

Benet-Pagès A, Lorenz-Depiereux B, Zischka H, White KE, Econs MJ, Strom TM. Benet-Pagès A, et al. Bone. 2004 Aug;35(2):455-62. doi: 10.1016/j.bone.2004.04.002. Bone. 2004. PMID: 15268897

5

An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

Benet-Pagès A, Orlik P, Strom TM, Lorenz-Depiereux B. Benet-Pagès A, et al. Hum Mol Genet. 2005 Feb 1;14(3):385-90. doi: 10.1093/hmg/ddi034. Epub 2004 Dec 8. Hum Mol Genet. 2005. PMID: 15590700

6

Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.

Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM. Lorenz-Depiereux B, et al. Am J Hum Genet. 2006 Feb;78(2):193-201. doi: 10.1086/499410. Epub 2005 Dec 9. Am J Hum Genet. 2006. PMID: 16358215 Free PMC article.

7

Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation.

Kato K, Jeanneau C, Tarp MA, Benet-Pagès A, Lorenz-Depiereux B, Bennett EP, Mandel U, Strom TM, Clausen H. Kato K, et al. J Biol Chem. 2006 Jul 7;281(27):18370-7. doi: 10.1074/jbc.M602469200. Epub 2006 Apr 25. J Biol Chem. 2006. PMID: 16638743 Free article.

8

DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.

Lorenz-Depiereux B, Bastepe M, Benet-Pagès A, Amyere M, Wagenstaller J, Müller-Barth U, Badenhoop K, Kaiser SM, Rittmaster RS, Shlossberg AH, Olivares JL, Loris C, Ramos FJ, Glorieux F, Vikkula M, Jüppner H, Strom TM. Lorenz-Depiereux B, et al. Nat Genet. 2006 Nov;38(11):1248-50. doi: 10.1038/ng1868. Epub 2006 Oct 8. Nat Genet. 2006. PMID: 17033625 Free PMC article.

9

Early glibenclamide treatment in a clinical newborn with KCNJ11 gene mutation.

Däublin G, Lorenz-Depiereux B, Strom TM, Blankenstein O, Raile K. Däublin G, et al. Diabetes Care. 2007 Oct;30(10):e104. doi: 10.2337/dc07-1318. Diabetes Care. 2007. PMID: 17901525 No abstract available.

10

Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.

Lorenz-Depiereux B, Schnabel D, Tiosano D, Häusler G, Strom TM. Lorenz-Depiereux B, et al. Am J Hum Genet. 2010 Feb 12;86(2):267-72. doi: 10.1016/j.ajhg.2010.01.006. Epub 2010 Feb 4. Am J Hum Genet. 2010. PMID: 20137773 Free PMC article.

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