Strom TM - Search Results

1

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. Among authors: strom tm. Diabetes Care. 2007 Oct;30(10):e104. doi: 10.2337/dc07-1318. Diabetes Care. 2007. PMID: 17901525 No abstract available.

2

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. Among authors: strom tm. 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

3

Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine.

Dichgans M, Freilinger T, Eckstein G, Babini E, Lorenz-Depiereux B, Biskup S, Ferrari MD, Herzog J, van den Maagdenberg AM, Pusch M, Strom TM. Dichgans M, et al. Among authors: strom tm. Lancet. 2005 Jul 30-Aug 5;366(9483):371-7. doi: 10.1016/S0140-6736(05)66786-4. Lancet. 2005. PMID: 16054936

4

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. Among authors: strom tm. 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.

5

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. Among authors: strom tm. Bone. 2004 Aug;35(2):455-62. doi: 10.1016/j.bone.2004.04.002. Bone. 2004. PMID: 15268897

6

A novel homozygous variant in exon 10 of the GALNT3 gene causing hyperphosphatemic familial tumoral calcinosis in a family from North India.

Dayal D, Gupta S, Kumar R, Srinivasan R, Lorenz-Depiereux B, Strom TM. Dayal D, et al. Among authors: strom tm. Intractable Rare Dis Res. 2021 Feb;10(1):55-57. doi: 10.5582/irdr.2020.03084. Intractable Rare Dis Res. 2021. PMID: 33614378 Free PMC article.

7

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. Among authors: strom tm. 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.

8

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. Among authors: strom tm. 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.

9

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. Among authors: strom tm. Eur J Hum Genet. 2003 Feb;11(2):138-44. doi: 10.1038/sj.ejhg.5200938. Eur J Hum Genet. 2003. PMID: 12634861

10

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. Among authors: strom tm. 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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

367 results

Search Page

Filters