Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 103

1.

Mutation in the SLC29A3 gene: a new cause of a monogenic, autoinflammatory condition.

Melki I, Lambot K, Jonard L, Couloigner V, Quartier P, Neven B, Bader-Meunier B.

Pediatrics. 2013 Apr;131(4):e1308-13. doi: 10.1542/peds.2012-2255. Epub 2013 Mar 25.

2.

SLC29A3 mutation in a patient with syndromic diabetes with features of pigmented hypertrichotic dermatosis with insulin-dependent diabetes, H syndrome and Faisalabad histiocytosis.

de Jesus J, Imane Z, Senée V, Romero S, Guillausseau PJ, Balafrej A, Julier C.

Diabetes Metab. 2013 May;39(3):281-5. doi: 10.1016/j.diabet.2013.03.007. Epub 2013 Apr 23.

PMID:
23623699
3.

An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis.

Elbarbary NS, Tjora E, Molnes J, Lie BA, Habib MA, Salem MA, Njølstad PR.

Pediatr Diabetes. 2013 Sep;14(6):466-72. doi: 10.1111/j.1399-5448.2012.00925.x. Epub 2012 Sep 18.

PMID:
22989030
4.

H syndrome: the first 79 patients.

Molho-Pessach V, Ramot Y, Camille F, Doviner V, Babay S, Luis SJ, Broshtilova V, Zlotogorski A.

J Am Acad Dermatol. 2014 Jan;70(1):80-8. doi: 10.1016/j.jaad.2013.09.019. Epub 2013 Oct 27.

PMID:
24172204
5.

Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype.

Jonard L, Couloigner V, Pierrot S, Louha M, Gherbi S, Denoyelle F, Marlin S.

Eur J Med Genet. 2012 Jan;55(1):56-8. doi: 10.1016/j.ejmg.2011.06.009. Epub 2011 Aug 23.

PMID:
21888995
6.

Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.

Morgan NV, Morris MR, Cangul H, Gleeson D, Straatman-Iwanowska A, Davies N, Keenan S, Pasha S, Rahman F, Gentle D, Vreeswijk MP, Devilee P, Knowles MA, Ceylaner S, Trembath RC, Dalence C, Kismet E, Köseoğlu V, Rossbach HC, Gissen P, Tannahill D, Maher ER.

PLoS Genet. 2010 Feb 5;6(2):e1000833. doi: 10.1371/journal.pgen.1000833.

7.

Expanding the clinical spectrum of SLC29A3 gene defects.

Spiegel R, Cliffe ST, Buckley MF, Crow YJ, Urquhart J, Horovitz Y, Tenenbaum-Rakover Y, Newman WG, Donnai D, Shalev SA.

Eur J Med Genet. 2010 Sep-Oct;53(5):309-13. doi: 10.1016/j.ejmg.2010.06.012. Epub 2010 Jul 7.

PMID:
20619369
8.

Functional outcome of a novel SLC29A3 mutation identified in a patient with H syndrome.

Huber-Ruano I, Errasti-Murugarren E, Godoy V, Vera Á, Andreu AL, Garcia-Arumi E, Martí R, Pastor-Anglada M.

Biochem Biophys Res Commun. 2012 Nov 30;428(4):532-7. doi: 10.1016/j.bbrc.2012.09.143. Epub 2012 Oct 8.

PMID:
23058913
9.

The H syndrome is caused by mutations in the nucleoside transporter hENT3.

Molho-Pessach V, Lerer I, Abeliovich D, Agha Z, Abu Libdeh A, Broshtilova V, Elpeleg O, Zlotogorski A.

Am J Hum Genet. 2008 Oct;83(4):529-34. doi: 10.1016/j.ajhg.2008.09.013.

10.

H syndrome with a novel homozygous R134C mutation in SLC29A3 gene.

Mohanan S, Chandrashekar L, Semple RK, Thappa DM, Rajesh NG, Negi VS, Gulati R.

Int J Dermatol. 2013 Jul;52(7):820-3. doi: 10.1111/j.1365-4632.2012.05838.x. No abstract available.

PMID:
23789599
11.

H syndrome: novel and recurrent mutations in SLC29A3.

Priya TP, Philip N, Molho-Pessach V, Busa T, Dalal A, Zlotogorski A.

Br J Dermatol. 2010 May;162(5):1132-4. doi: 10.1111/j.1365-2133.2010.09653.x. Epub 2010 Feb 25.

PMID:
20199539
12.

SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.

Cliffe ST, Kramer JM, Hussain K, Robben JH, de Jong EK, de Brouwer AP, Nibbeling E, Kamsteeg EJ, Wong M, Prendiville J, James C, Padidela R, Becknell C, van Bokhoven H, Deen PM, Hennekam RC, Lindeman R, Schenck A, Roscioli T, Buckley MF.

Hum Mol Genet. 2009 Jun 15;18(12):2257-65. doi: 10.1093/hmg/ddp161. Epub 2009 Mar 31.

PMID:
19336477
13.

Novel homozygous SLC29A3 mutations among two unrelated Egyptian families with spectral features of H-syndrome.

Al-Haggar M, Salem N, Wahba Y, Ahmad N, Jonard L, Abdel-Hady D, El-Hawary A, El-Sharkawy A, Eid AR, El-Hawary A.

Pediatr Diabetes. 2015 Jun;16(4):305-16. doi: 10.1111/pedi.12160. Epub 2014 Jun 4.

PMID:
24894595
14.

[H syndrome: First reported paediatric case in Latin America].

Abarca Barriga HH, Trubnykova M, Polar Córdoba V, Ramos Diaz KJ, Aviles Alfaro N.

Rev Chil Pediatr. 2016 Nov - Dec;87(6):494-499. doi: 10.1016/j.rchipe.2016.03.006. Epub 2016 Apr 30. Spanish.

15.

A case of H syndrome showing immunophenotye similarities to Rosai-Dorfman disease.

Avitan-Hersh E, Mandel H, Indelman M, Bar-Joseph G, Zlotogorski A, Bergman R.

Am J Dermatopathol. 2011 Feb;33(1):47-51. doi: 10.1097/DAD.0b013e3181ee547c.

PMID:
21178579
16.

Agenesis of the inferior vena cava in H syndrome due to a novel SLC29A3 mutation.

Mutlu GY, Ramot Y, Babaoglu K, Altun G, Zlotogorski A, Molho-Pessach V.

Pediatr Dermatol. 2013 Sep-Oct;30(5):e70-3. doi: 10.1111/pde.12085. Epub 2013 Feb 14.

PMID:
23406517
17.

Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) syndrome is associated with severe chronic inflammation and cardiomyopathy, and represents a new monogenic autoinflammatory syndrome.

Senniappan S, Hughes M, Shah P, Shah V, Kaski JP, Brogan P, Hussain K.

J Pediatr Endocrinol Metab. 2013;26(9-10):877-82. doi: 10.1515/jpem-2013-0062.

PMID:
23729543
18.

A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant.

Bolze A, Abhyankar A, Grant AV, Patel B, Yadav R, Byun M, Caillez D, Emile JF, Pastor-Anglada M, Abel L, Puel A, Govindarajan R, de Pontual L, Casanova JL.

PLoS One. 2012;7(1):e29708. doi: 10.1371/journal.pone.0029708. Epub 2012 Jan 4.

19.

Identification of two novel mutations in SLC29A3 encoding an equilibrative nucleoside transporter (hENT3) in two distinct Syrian families with H syndrome: expression studies of SLC29A3 (hENT3) in human skin.

Farooq M, Moustafa RM, Fujimoto A, Fujikawa H, Abbas O, Kibbi AG, Kurban M, Shimomura Y.

Dermatology. 2012;224(3):277-84. doi: 10.1159/000338886. Epub 2012 May 31.

PMID:
22653152
20.

Emperipolesis: an additional common histopathologic finding in H syndrome and Rosai-Dorfman disease.

Colmenero I, Molho-Pessach V, Torrelo A, Zlotogorski A, Requena L.

Am J Dermatopathol. 2012 May;34(3):315-20. doi: 10.1097/DAD.0b013e31823b99fc.

PMID:
22356918

Supplemental Content

Support Center