van't Hoff W - Search Results

1

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.

Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, Callen DF, Gribouval O, Broyer M, Bates GP, van't Hoff W, Antignac C. Town M, et al. Nat Genet. 1998 Apr;18(4):319-24. doi: 10.1038/ng0498-319. Nat Genet. 1998. PMID: 9537412

2

Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay.

Forestier L, Jean G, Attard M, Cherqui S, Lewis C, van't Hoff W, Broyer M, Town M, Antignac C. Forestier L, et al. Am J Hum Genet. 1999 Aug;65(2):353-9. doi: 10.1086/302509. Am J Hum Genet. 1999. PMID: 10417278 Free PMC article.

3

Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.

Attard M, Jean G, Forestier L, Cherqui S, van't Hoff W, Broyer M, Antignac C, Town M. Attard M, et al. Hum Mol Genet. 1999 Dec;8(13):2507-14. doi: 10.1093/hmg/8.13.2507. Hum Mol Genet. 1999. PMID: 10556299

4

Immunolocalization of cystinosin, the protein defective in cystinosis.

Haq MR, Kalatzis V, Gubler MC, Town MM, Antignac C, Van't Hoff WG, Woolf AS. Haq MR, et al. J Am Soc Nephrol. 2002 Aug;13(8):2046-51. doi: 10.1097/01.asn.0000022012.95680.ba. J Am Soc Nephrol. 2002. PMID: 12138135

5

High-resolution mapping of the gene for cystinosis, using combined biochemical and linkage analysis.

Jean G, Fuchshuber A, Town MM, Gribouval O, Schneider JA, Broyer M, van't Hoff W, Niaudet P, Antignac C. Jean G, et al. Am J Hum Genet. 1996 Mar;58(3):535-43. Am J Hum Genet. 1996. PMID: 8644713 Free PMC article.

6

Clinical and molecular aspects of nephropathic cystinosis.

McDowell GA, Town MM, van't Hoff W, Gahl WA. McDowell GA, et al. J Mol Med (Berl). 1998 Apr;76(5):295-302. doi: 10.1007/s001090050220. J Mol Med (Berl). 1998. PMID: 9587063 Review.

7

Nephropathic cystinosis: an international consensus document.

Emma F, Nesterova G, Langman C, Labbé A, Cherqui S, Goodyer P, Janssen MC, Greco M, Topaloglu R, Elenberg E, Dohil R, Trauner D, Antignac C, Cochat P, Kaskel F, Servais A, Wühl E, Niaudet P, Van't Hoff W, Gahl W, Levtchenko E. Emma F, et al. Nephrol Dial Transplant. 2014 Sep;29 Suppl 4(Suppl 4):iv87-94. doi: 10.1093/ndt/gfu090. Nephrol Dial Transplant. 2014. PMID: 25165189 Free PMC article.

8

Long-term treatment with growth hormone in short children with nephropathic cystinosis.

Wühl E, Haffner D, Offner G, Broyer M, van't Hoff W, Mehls O; European Study Group on Growth Hormone Treatment in Children with Nephropathic Cystinosis. Wühl E, et al. J Pediatr. 2001 Jun;138(6):880-7. doi: 10.1067/mpd.2001.113263. J Pediatr. 2001. PMID: 11391333 Clinical Trial.

9

Treatment with recombinant human growth hormone in short children with nephropathic cystinosis: no evidence for increased deterioration rate of renal function. The European Study Group on Growth Hormone Treatment in Short Children with Nephropathic Cystinosis.

Wühl E, Haffner D, Gretz N, Offner G, van't Hoff WG, Broyer M, Mehls O. Wühl E, et al. Pediatr Res. 1998 Apr;43(4 Pt 1):484-8. doi: 10.1203/00006450-199804000-00008. Pediatr Res. 1998. PMID: 9545002 Clinical Trial.

10

Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM.

Rickard S, Parker M, van't Hoff W, Barnicoat A, Russell-Eggitt I, Winter RM, Bitner-Glindzicz M. Rickard S, et al. Hum Genet. 2001 May;108(5):398-403. doi: 10.1007/s004390100495. Hum Genet. 2001. PMID: 11409867

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

174 results

Search Page

Filters