309 related articles for article (PubMed ID: 22238590)
1. Wolfram syndrome: new mutations, different phenotype.
Aloi C; Salina A; Pasquali L; Lugani F; Perri K; Russo C; Tallone R; Ghiggeri GM; Lorini R; d'Annunzio G
PLoS One; 2012; 7(1):e29150. PubMed ID: 22238590
[TBL] [Abstract][Full Text] [Related]
2. Molecular characterization of WFS1 in an Iranian family with Wolfram syndrome reveals a novel frameshift mutation associated with early symptoms.
Sobhani M; Tabatabaiefar MA; Rajab A; Kajbafzadeh AM; Noori-Daloii MR
Gene; 2013 Oct; 528(2):309-13. PubMed ID: 23845777
[TBL] [Abstract][Full Text] [Related]
3. Identification of unsuspected Wolfram syndrome cases through clinical assessment and WFS1 gene screening in type 1 diabetes mellitus patients.
Blanco-Aguirre ME; la Parra DR; Tapia-Garcia H; Gonzalez-Rodriguez J; Welschen D; Arroyo-Yllanes ME; Escudero I; Nuñez-Hernandez JA; Medina-Bravo P; Zenteno JC
Gene; 2015 Jul; 566(1):63-7. PubMed ID: 25895475
[TBL] [Abstract][Full Text] [Related]
4. Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features.
Matsunaga K; Tanabe K; Inoue H; Okuya S; Ohta Y; Akiyama M; Taguchi A; Kora Y; Okayama N; Yamada Y; Wada Y; Amemiya S; Sugihara S; Nakao Y; Oka Y; Tanizawa Y
PLoS One; 2014; 9(9):e106906. PubMed ID: 25211237
[TBL] [Abstract][Full Text] [Related]
5. Wolfram/DIDMOAD syndrome, a heterogenic and molecularly complex neurodegenerative disease.
Domenech E; Gomez-Zaera M; Nunes V
Pediatr Endocrinol Rev; 2006 Mar; 3(3):249-57. PubMed ID: 16639390
[TBL] [Abstract][Full Text] [Related]
6. Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene.
Titah SM; Meunier I; Blanchet C; Lopez S; Rondouin G; Lenaers G; Amati-Bonneau P; Reynier P; Paquis-Flucklinger V; Hamel CP
Eur J Ophthalmol; 2012; 22(2):254-8. PubMed ID: 21623591
[TBL] [Abstract][Full Text] [Related]
7. Congenital central diabetes insipidus and optic atrophy in a Wolfram newborn: is there a role for WFS1 gene in neurodevelopment?
Ghirardello S; Dusi E; Castiglione B; Fumagalli M; Mosca F
Ital J Pediatr; 2014 Sep; 40():76. PubMed ID: 25255707
[TBL] [Abstract][Full Text] [Related]
8. Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome.
Gasparin MR; Crispim F; Paula SL; Freire MB; Dalbosco IS; Manna TD; Salles JE; Gasparin F; Guedes A; Marcantonio JM; Gambini M; Salim CP; Moisés RS
Eur J Endocrinol; 2009 Feb; 160(2):309-16. PubMed ID: 19042979
[TBL] [Abstract][Full Text] [Related]
9. Identification of one novel causative mutation in exon 4 of WFS1 gene in two Italian siblings with classical DIDMOAD syndrome phenotype.
Rigoli L; Lombardo F; Salzano G; Di Bella C; Messina MF; De Luca F; Iafusco D
Gene; 2013 Sep; 526(2):487-9. PubMed ID: 23103830
[TBL] [Abstract][Full Text] [Related]
10. A new structural rearrangement associated to Wolfram syndrome in a child with a partial phenotype.
Elli FM; Ghirardello S; Giavoli C; Gangi S; Dioni L; Crippa M; Finelli P; Bergamaschi S; Mosca F; Spada A; Beck-Peccoz P
Gene; 2012 Nov; 509(1):168-72. PubMed ID: 22771918
[TBL] [Abstract][Full Text] [Related]
11. A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report.
Li M; Liu J; Yi H; Xu L; Zhong X; Peng F
BMC Pediatr; 2018 Mar; 18(1):116. PubMed ID: 29549887
[TBL] [Abstract][Full Text] [Related]
12. Molecular characterization of WFS1 in patients with Wolfram syndrome.
van ven Ouweland JM; Cryns K; Pennings RJ; Walraven I; Janssen GM; Maassen JA; Veldhuijzen BF; Arntzenius AB; Lindhout D; Cremers CW; Van Camp G; Dikkeschei LD
J Mol Diagn; 2003 May; 5(2):88-95. PubMed ID: 12707373
[TBL] [Abstract][Full Text] [Related]
13. Significant expressivity of Wolfram syndrome: phenotypic assessment of two known and one novel mutation in the WFS1 gene in three Iranian families.
Sobhani M; Tabatabaiefar MA; Rajab A; Kajbafzadeh AM; Noori-Daloii MR
Mol Biol Rep; 2014 Nov; 41(11):7499-505. PubMed ID: 25173644
[TBL] [Abstract][Full Text] [Related]
14. Wolfram syndrome (diabetes insipidus, diabetes, optic atrophy, and deafness): clinical and genetic study.
d'Annunzio G; Minuto N; D'Amato E; de Toni T; Lombardo F; Pasquali L; Lorini R
Diabetes Care; 2008 Sep; 31(9):1743-5. PubMed ID: 18566338
[TBL] [Abstract][Full Text] [Related]
15. Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A).
Çelmeli G; Türkkahraman D; Çürek Y; Houghton J; Akçurin S; Bircan İ
J Clin Res Pediatr Endocrinol; 2017 Mar; 9(1):80-84. PubMed ID: 27468121
[TBL] [Abstract][Full Text] [Related]
16. [Genetic diagnosis of diabetes mellitus: Wolfram syndrome--from positional cloning to DNA diagnosis].
Tanizawa Y
Rinsho Byori; 2003 Jun; 51(6):544-9. PubMed ID: 12884741
[TBL] [Abstract][Full Text] [Related]
17. Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders.
Chaussenot A; Rouzier C; Quere M; Plutino M; Ait-El-Mkadem S; Bannwarth S; Barth M; Dollfus H; Charles P; Nicolino M; Chabrol B; Vialettes B; Paquis-Flucklinger V
Clin Genet; 2015 May; 87(5):430-9. PubMed ID: 24890733
[TBL] [Abstract][Full Text] [Related]
18. [Wolfram syndrome. Clinical and genetic study in two families].
Lou Frances G; Soto de Ruiz S; López-Madrazo Hernández MJ; Macipe Costa R; Rodríguez Rigual M
An Pediatr (Barc); 2008 Jan; 68(1):54-7. PubMed ID: 18194629
[TBL] [Abstract][Full Text] [Related]
19. Wolfram syndrome 1 and Wolfram syndrome 2.
Rigoli L; Di Bella C
Curr Opin Pediatr; 2012 Aug; 24(4):512-7. PubMed ID: 22790102
[TBL] [Abstract][Full Text] [Related]
20. [Wolfram syndrome: from definition to molecular bases].
Ribeiro MR; Crispim F; Vendramini MF; Moisés RS
Arq Bras Endocrinol Metabol; 2006 Oct; 50(5):839-44. PubMed ID: 17160206
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]