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Results: 15

1.

Immune Complex-Mediated Autoimmunity in a Patient With Smith-Magenis Syndrome (del 17p11.2).

Yang J, Chandrasekharappa SC, Vilboux T, Smith AC, Peterson EJ.

J Clin Rheumatol. 2014 Aug;20(5):291-3. doi: 10.1097/RHU.0000000000000118.

PMID:
25036569
[PubMed - in process]
2.

Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.

Adams DR, Yuan H, Holyoak T, Arajs KH, Hakimi P, Markello TC, Wolfe LA, Vilboux T, Burton BK, Fajardo KF, Grahame G, Holloman C, Sincan M, Smith AC, Wells GA, Huang Y, Vega H, Snyder JP, Golas GA, Tifft CJ, Boerkoel CF, Hanson RW, Traynelis SF, Kerr DS, Gahl WA.

Mol Genet Metab. 2014 Apr 13. pii: S1096-7192(14)00126-7. doi: 10.1016/j.ymgme.2014.04.001. [Epub ahead of print]

PMID:
24863970
[PubMed - as supplied by publisher]
3.

Mutation Update for GNE Gene Variants Associated with GNE Myopathy.

Celeste FV, Vilboux T, Ciccone C, de Dios JK, Malicdan MC, Leoyklang P, McKew JC, Gahl WA, Carrillo-Carrasco N, Huizing M.

Hum Mutat. 2014 Aug;35(8):915-26. doi: 10.1002/humu.22583.

PMID:
24796702
[PubMed - in process]
4.

A congenital neutrophil defect syndrome associated with mutations in VPS45.

Vilboux T, Lev A, Malicdan MC, Simon AJ, Järvinen P, Racek T, Puchalka J, Sood R, Carrington B, Bishop K, Mullikin J, Huizing M, Garty BZ, Eyal E, Wolach B, Gavrieli R, Toren A, Soudack M, Atawneh OM, Babushkin T, Schiby G, Cullinane A, Avivi C, Polak-Charcon S, Barshack I, Amariglio N, Rechavi G, van der Werff ten Bosch J, Anikster Y, Klein C, Gahl WA, Somech R.

N Engl J Med. 2013 Jul 4;369(1):54-65. doi: 10.1056/NEJMoa1301296. Epub 2013 Jun 5.

PMID:
23738510
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.

Nesterova G, Malicdan MC, Yasuda K, Sakaki T, Vilboux T, Ciccone C, Horst R, Huang Y, Golas G, Introne W, Huizing M, Adams D, Boerkoel CF, Collins MT, Gahl WA.

Clin J Am Soc Nephrol. 2013 Apr;8(4):649-57. doi: 10.2215/CJN.05360512. Epub 2013 Jan 4.

PMID:
23293122
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.

Vilboux T, Ciccone C, Blancato JK, Cox GF, Deshpande C, Introne WJ, Gahl WA, Smith AC, Huizing M.

PLoS One. 2011;6(8):e22861. doi: 10.1371/journal.pone.0022861. Epub 2011 Aug 8.

PMID:
21857958
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Genetic basis of cystinosis in Turkish patients: a single-center experience.

Topaloglu R, Vilboux T, Coskun T, Ozaltin F, Tinloy B, Gunay-Aygun M, Bakkaloglu A, Besbas N, van den Heuvel L, Kleta R, Gahl WA.

Pediatr Nephrol. 2012 Jan;27(1):115-21. doi: 10.1007/s00467-011-1942-6. Epub 2011 Jul 24.

PMID:
21786142
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules.

Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, Zivony-Elboum Y, Gumruk F, Cetin M, Khayat M, Boerkoel CF, Kfir N, Huang Y, Maynard D, Dorward H, Berger K, Kleta R, Anikster Y, Arat M, Freiberg AS, Kehrel BE, Jurk K, Cruz P, Mullikin JC, White JG, Huizing M, Gahl WA.

Nat Genet. 2011 Jul 17;43(8):732-4. doi: 10.1038/ng.883.

PMID:
21765412
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia.

Cullinane AR, Vilboux T, O'Brien K, Curry JA, Maynard DM, Carlson-Donohoe H, Ciccone C; NISC Comparative Sequencing Program, Markello TC, Gunay-Aygun M, Huizing M, Gahl WA.

J Invest Dermatol. 2011 Oct;131(10):2017-25. doi: 10.1038/jid.2011.157. Epub 2011 Jun 16.

PMID:
21677667
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnostics and neonatal screening.

Wamelink MM, Struys EA, Jansen EE, Blom HJ, Vilboux T, Gahl WA, Kömhoff M, Jakobs C, Levtchenko EN.

Mol Genet Metab. 2011 Mar;102(3):339-42. doi: 10.1016/j.ymgme.2010.12.002. Epub 2010 Dec 13.

PMID:
21195649
[PubMed - indexed for MEDLINE]
11.

Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.

Manoli I, Golas G, Westbroek W, Vilboux T, Markello TC, Introne W, Maynard D, Pederson B, Tsilou E, Jordan MB, Hart PS, White JG, Gahl WA, Huizing M.

Am J Med Genet A. 2010 Jun;152A(6):1474-83. doi: 10.1002/ajmg.a.33389.

PMID:
20503323
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.

Vilboux T, Kayser M, Introne W, Suwannarat P, Bernardini I, Fischer R, O'Brien K, Kleta R, Huizing M, Gahl WA.

Hum Mutat. 2009 Dec;30(12):1611-9. doi: 10.1002/humu.21120.

PMID:
19862842
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome.

Westbroek W, Tuchman M, Tinloy B, De Wever O, Vilboux T, Hertz JM, Hasle H, Heilmann C, Helip-Wooley A, Kleta R, Gahl WA.

Mol Genet Metab. 2008 Jun;94(2):248-54. doi: 10.1016/j.ymgme.2008.02.009. Epub 2008 Apr 7.

PMID:
18397837
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Progressive retinal atrophy in the Border Collie: a new XLPRA.

Vilboux T, Chaudieu G, Jeannin P, Delattre D, Hedan B, Bourgain C, Queney G, Galibert F, Thomas A, André C.

BMC Vet Res. 2008 Mar 3;4:10. doi: 10.1186/1746-6148-4-10.

PMID:
18315866
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Coat colour in dogs: identification of the merle locus in the Australian shepherd breed.

Hédan B, Corre S, Hitte C, Dréano S, Vilboux T, Derrien T, Denis B, Galibert F, Galibert MD, André C.

BMC Vet Res. 2006 Feb 27;2:9.

PMID:
16504149
[PubMed]
Free PMC Article

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