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Items: 1 to 20 of 113

1.

LGR4/GPR48 inactivation leads to aniridia-genitourinary anomalies-mental retardation syndrome defects.

Yi T, Weng J, Siwko S, Luo J, Li D, Liu M.

J Biol Chem. 2014 Mar 28;289(13):8767-80. doi: 10.1074/jbc.M113.530816. Epub 2014 Feb 11.

2.

Sustained endocrine profiles of a girl with WAGR syndrome.

Takada Y, Sakai Y, Matsushita Y, Ohkubo K, Koga Y, Akamine S, Torio M, Ishizaki Y, Sanefuji M, Torisu H, Shaw CA, Kagami M, Hara T, Ohga S.

BMC Med Genet. 2017 Oct 23;18(1):117. doi: 10.1186/s12881-017-0477-5.

3.

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
4.

Lgr4 promotes prostate tumorigenesis through the Jmjd2a/AR signaling pathway.

Zhang J, Li Q, Zhang S, Xu Q, Wang T.

Exp Cell Res. 2016 Nov 15;349(1):77-84. doi: 10.1016/j.yexcr.2016.09.023. Epub 2016 Oct 12.

PMID:
27743893
5.

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
6.

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
7.

Aniridia as part of a WAGR syndrome in a girl whose brother presented hypospadias.

Lorda-Sanchez I, Sanz R, Diaz-Guillen MA, Fernandez-Toral J, Heine-Suñer D, Rodriguez De Alba M, Gonzalez-Gonzalez C, Trujillo MJ, Ramos C, Rodriguez De Cordoba S, Ayuso C.

Genet Couns. 2002;13(2):171-7.

PMID:
12150218
8.

WAGR(O?) syndrome and congenital ptosis caused by an unbalanced t(11;15)(p13;p11.2)dn demonstrating a 7 megabase deletion by FISH.

Lennon PA, Scott DA, Lonsdorf D, Wargowski DS, Kirkpatrick S, Patel A, Cheung SW.

Am J Med Genet A. 2006 Jun 1;140(11):1214-8.

PMID:
16646034
9.

WAGR syndrome--a case report.

Mahale A, Poornima V, Shrestha M.

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

PMID:
17899969
10.

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.

11.

Small glomeruli in WAGR (Wilms Tumor, Aniridia, Genitourinary Anomalies and Mental Retardation) syndrome.

Dahan K, Kamal M, Noël LH, Jeanpierre C, Gubler MC, Brousse N, Mariaud de Serre NP.

Am J Kidney Dis. 2007 Jun;49(6):793-800.

PMID:
17533022
12.

Altered trans-activational properties of a mutated WT1 gene product in a WAGR-associated Wilms' tumor.

Park S, Tomlinson G, Nisen P, Haber DA.

Cancer Res. 1993 Oct 15;53(20):4757-60.

13.

WAGR syndrome: a clinical review of 54 cases.

Fischbach BV, Trout KL, Lewis J, Luis CA, Sika M.

Pediatrics. 2005 Oct;116(4):984-8. Review.

PMID:
16199712
14.

Billateral polycystic kidneys in a girl with WAGR syndrome.

Gucev Z, Muratovska O, Laban N, Misevska L, Jancevska A, Crolla J, Tasic V.

Indian J Pediatr. 2011 Oct;78(10):1290-2. doi: 10.1007/s12098-011-0457-2. Epub 2011 Jun 10.

PMID:
21660403
15.

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.

16.

Deletion of G protein-coupled receptor 48 leads to ocular anterior segment dysgenesis (ASD) through down-regulation of Pitx2.

Weng J, Luo J, Cheng X, Jin C, Zhou X, Qu J, Tu L, Ai D, Li D, Wang J, Martin JF, Amendt BA, Liu M.

Proc Natl Acad Sci U S A. 2008 Apr 22;105(16):6081-6. doi: 10.1073/pnas.0708257105. Epub 2008 Apr 18.

17.
18.

[WAGR syndrome: a case report].

Moreno García M, Sánchez del Pozo J, Fernández Martínez FJ, Moreno-Izquierdo A, Barreiro Miranda E.

An Esp Pediatr. 1998 Oct;49(4):381-7. Spanish.

PMID:
9859552
20.

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

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