Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 158

1.

Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including PAX6, WT1, and PRRG4.

Yamamoto T, Togawa M, Shimada S, Sangu N, Shimojima K, Okamoto N.

Am J Med Genet A. 2014 Mar;164A(3):634-8. doi: 10.1002/ajmg.a.36325. Epub 2013 Dec 19.

PMID:
24357251
2.

Congenital diaphragmatic hernia in WAGR syndrome.

Scott DA, Cooper ML, Stankiewicz P, Patel A, Potocki L, Cheung SW.

Am J Med Genet A. 2005 May 1;134(4):430-3. Review.

PMID:
15779010
3.

Complete sex reversal in a WAGR syndrome patient.

Le Caignec C, Delnatte C, Vermeesch JR, Boceno M, Joubert M, Lavenant F, David A, Rival JM.

Am J Med Genet A. 2007 Nov 15;143A(22):2692-5.

PMID:
17935232
4.

Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism.

Xu S, Han JC, Morales A, Menzie CM, Williams K, Fan YS.

Cytogenet Genome Res. 2008;122(2):181-7. doi: 10.1159/000172086. Epub 2008 Dec 18. Erratum in: Cytogenet Genome Res. 2009;124(1):112.

PMID:
19096215
5.

Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins.

Brémond-Gignac D, Gérard-Blanluet M, Copin H, Bitoun P, Baumann C, Crolla JA, Benzacken B, Verloes A.

Am J Med Genet A. 2005 May 1;134(4):422-5.

PMID:
15779023
6.

WAGR syndrome--a case report.

Mahale A, Poornima V, Shrestha M.

Nepal Med Coll J. 2007 Jun;9(2):138-40.

PMID:
17899969
7.

Clinical utility gene card for: WAGR syndrome.

Clericuzio C, Hingorani M, Crolla JA, van Heyningen V, Verloes A.

Eur J Hum Genet. 2011 Apr;19(4). doi: 10.1038/ejhg.2010.220. Epub 2011 Jan 12. No abstract available.

8.

[WAGR syndrome].

Kaneko Y.

Nihon Rinsho. 2006 Sep 28;Suppl 3:605-8. Review. Japanese. No abstract available.

PMID:
17022619
9.

Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia.

Crolla JA, van Heyningen V.

Am J Hum Genet. 2002 Nov;71(5):1138-49. Epub 2002 Oct 17.

10.

A familial pericentric inversion of chromosome 11 associated with a microdeletion of 163 kb and microduplication of 288 kb at 11p13 and 11q22.3 without aniridia or eye anomalies.

Balay L, Totten E, Okada L, Zell S, Ticho B, Israel J, Kogan J.

Am J Med Genet A. 2016 Jan;170A(1):202-9. doi: 10.1002/ajmg.a.37388. Epub 2015 Sep 30.

PMID:
26419218
11.

WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion.

Huynh MT, Boudry-Labis E, Duban B, Andrieux J, Tran CT, Tampere H, Ceraso D, Manouvrier S, Tachdjian G, Roche-Lestienne C, Vincent-Delorme C.

Am J Med Genet A. 2017 Jun;173(6):1690-1693. doi: 10.1002/ajmg.a.38206. Epub 2017 Apr 11.

PMID:
28398607
12.

The WAGR syndrome gene PRRG4 is a functional homologue of the commissureless axon guidance gene.

Justice ED, Barnum SJ, Kidd T.

PLoS Genet. 2017 Aug 31;13(8):e1006865. doi: 10.1371/journal.pgen.1006865. eCollection 2017 Aug. Erratum in: PLoS Genet. 2017 Oct 23;13(10 ):e1007061.

13.

Brain-derived neurotrophic factor and obesity in the WAGR syndrome.

Han JC, Liu QR, Jones M, Levinn RL, Menzie CM, Jefferson-George KS, Adler-Wailes DC, Sanford EL, Lacbawan FL, Uhl GR, Rennert OM, Yanovski JA.

N Engl J Med. 2008 Aug 28;359(9):918-27. doi: 10.1056/NEJMoa0801119. Erratum in: N Engl J Med. 2008 Sep 25;359(13):1414.

14.

Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia.

Robinson DO, Howarth RJ, Williamson KA, van Heyningen V, Beal SJ, Crolla JA.

Am J Med Genet A. 2008 Mar 1;146A(5):558-69. doi: 10.1002/ajmg.a.32209.

PMID:
18241071
15.
16.

Mosaic deletion 11p13 in a child with dopamine beta-hydroxylase deficiency--case report and review of the literature.

Erez A, Li J, Geraghty MT, Ben-Shachar S, Cooper ML, Mensing DE, Vonalt KD, Ou Z, Pursley AN, Chinault AC, Patel A, Cheung SW, Sahoo T.

Am J Med Genet A. 2010 Mar;152A(3):732-6. doi: 10.1002/ajmg.a.33269. Review.

PMID:
20186791
17.

Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome.

Han JC, Thurm A, Golden Williams C, Joseph LA, Zein WM, Brooks BP, Butman JA, Brady SM, Fuhr SR, Hicks MD, Huey AE, Hanish AE, Danley KM, Raygada MJ, Rennert OM, Martinowich K, Sharp SJ, Tsao JW, Swedo SE.

Cortex. 2013 Nov-Dec;49(10):2700-10. doi: 10.1016/j.cortex.2013.02.009. Epub 2013 Feb 19.

18.

[Two neonates with congenital aniridia: the necessity of genetic investigation].

van Os E, Niemarkt HJ, Verreussel MJ, Cruysberg JR, Bok LA, Spruijt L.

Ned Tijdschr Geneeskd. 2008 Mar 8;152(10):569-73. Dutch.

PMID:
18402324
19.

[Multicystic renal tumor in a patient with WAGR syndrome].

Braun KP, May M, Erler T, Hoschke B.

Urologe A. 2007 Jun;46(6):671-4. German.

PMID:
17295033
20.

[Genetics of congenital aniridia].

Neuhaus C, Betz C, Bergmann C, Bolz HJ.

Ophthalmologe. 2014 Dec;111(12):1157-63. doi: 10.1007/s00347-014-3059-3. German.

PMID:
25475187

Supplemental Content

Support Center