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Results: 1 to 20 of 23

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.

PMID:
24519938
[PubMed - indexed for MEDLINE]
2.

The modifier effect of the BDNF gene in the phenotype of the WAGRO syndrome.

Rodríguez-López R, Pérez JM, Balsera AM, Rodríguez GG, Moreno TH, García de Cáceres M, Serrano MG, Freijo FC, Ruiz JR, Angueira FB, Pérez PM, Estévez MN, Gómez EG.

Gene. 2013 Mar 10;516(2):285-90. doi: 10.1016/j.gene.2012.11.073. Epub 2012 Dec 21.

PMID:
23266638
[PubMed - indexed for MEDLINE]
3.

Bezafibrate to prevent relapsing pancreatitis in WAGR syndrome.

Diacono D, Fagbemi A, Puleston J, Banerjee I.

BMJ Case Rep. 2012 Nov 14;2012. pii: bcr2012006413. doi: 10.1136/bcr-2012-006413.

PMID:
23152176
[PubMed - indexed for MEDLINE]
4.

Frequency of WT1 and 11p15 constitutional aberrations and phenotypic correlation in childhood Wilms tumour patients.

Segers H, Kersseboom R, Alders M, Pieters R, Wagner A, van den Heuvel-Eibrink MM.

Eur J Cancer. 2012 Nov;48(17):3249-56. doi: 10.1016/j.ejca.2012.06.008. Epub 2012 Jul 14.

PMID:
22796116
[PubMed - indexed for MEDLINE]
5.

Focal segmental glomerulosclerosis in patients with complete deletion of one WT1 allele.

Iijima K, Someya T, Ito S, Nozu K, Nakanishi K, Matsuoka K, Ohashi H, Nagata M, Kamei K, Sasaki S.

Pediatrics. 2012 Jun;129(6):e1621-5. doi: 10.1542/peds.2011-1323. Epub 2012 May 14.

PMID:
22585769
[PubMed - indexed for MEDLINE]
Free Article
6.

Ocular and systemic findings in a survey of aniridia subjects.

Netland PA, Scott ML, Boyle JW 4th, Lauderdale JD.

J AAPOS. 2011 Dec;15(6):562-6. doi: 10.1016/j.jaapos.2011.07.009.

PMID:
22153401
[PubMed - indexed for MEDLINE]
7.

Deletion and duplication of 11p13-11p14: reciprocal aberrations derived from a paternal insertion.

Dolan M, Berry SA, Rubin KR, Hirsch B.

Am J Med Genet A. 2011 Nov;155A(11):2775-83. doi: 10.1002/ajmg.a.34232. Epub 2011 Sep 19.

PMID:
21932318
[PubMed - indexed for MEDLINE]
8.

Unique utilization of a phosphoprotein phosphatase fold by a mammalian phosphodiesterase associated with WAGR syndrome.

Dermol U, Janardan V, Tyagi R, Visweswariah SS, Podobnik M.

J Mol Biol. 2011 Sep 23;412(3):481-94. doi: 10.1016/j.jmb.2011.07.060. Epub 2011 Jul 30.

PMID:
21824479
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity.

Shinawi M, Sahoo T, Maranda B, Skinner SA, Skinner C, Chinault C, Zascavage R, Peters SU, Patel A, Stevenson RE, Beaudet AL.

Am J Med Genet A. 2011 Jun;155A(6):1272-80. doi: 10.1002/ajmg.a.33878. Epub 2011 May 12.

PMID:
21567907
[PubMed - indexed for MEDLINE]
11.

WAGR syndrome with tetralogy of Fallot and hydrocephalus.

Demir HA, Varan A, Utine EG, Aktaş D, Oğuz B, Rama D, Büyükpamukçu M.

J Pediatr Hematol Oncol. 2011 May;33(4):e174-5. doi: 10.1097/MPH.0b013e3182114e0e.

PMID:
21364466
[PubMed - indexed for MEDLINE]
12.

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.

PMID:
21224893
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Array-CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation.

Gimelli S, Divizia MT, Lerone M, Bricco L, Béna F, Antonarakis SE, Ravazzolo R, Gimelli G.

Am J Med Genet A. 2010 Aug;152A(8):2130-3. doi: 10.1002/ajmg.a.33517. No abstract available.

PMID:
20635368
[PubMed - indexed for MEDLINE]
14.

WAGR syndrome--a case report.

Starcević M, Mataija M.

Acta Clin Croat. 2009 Sep;48(4):455-9.

PMID:
20405644
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

Clinical and genetic findings of five patients with WT1-related disorders.

Andrade JG, Guaragna MS, Soardi FC, Guerra-Júnior G, Mello MP, Maciel-Guerra AT.

Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1236-43.

PMID:
19169475
[PubMed - indexed for MEDLINE]
Free Article
17.

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
[PubMed - indexed for MEDLINE]
18.

Characterization of an evolutionarily conserved metallophosphoesterase that is expressed in the fetal brain and associated with the WAGR syndrome.

Tyagi R, Shenoy AR, Visweswariah SS.

J Biol Chem. 2009 Feb 20;284(8):5217-28. doi: 10.1074/jbc.M805996200. Epub 2008 Nov 12.

PMID:
19004815
[PubMed - indexed for MEDLINE]
Free Article
19.

Aniridia: current pathology and management.

Lee H, Khan R, O'Keefe M.

Acta Ophthalmol. 2008 Nov;86(7):708-15. doi: 10.1111/j.1755-3768.2008.01427.x. Epub 2008 Oct 6. Review.

PMID:
18937825
[PubMed - indexed for MEDLINE]
20.

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.

PMID:
18753648
[PubMed - indexed for MEDLINE]
Free PMC Article

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