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Items: 1 to 20 of 60

1.

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.

2.

cDNA sequence, genomic organization, and evolutionary conservation of a novel gene from the WAGR region.

Schwartz F, Eisenman R, Knoll J, Gessler M, Bruns G.

Genomics. 1995 Sep 20;29(2):526-32.

PMID:
8666403
3.

The 239AB gene on chromosome 22: a novel member of an ancient gene family.

Schwartz F, Ota T.

Gene. 1997 Jul 18;194(1):57-62.

PMID:
9266672
4.

The Rv0805 gene from Mycobacterium tuberculosis encodes a 3',5'-cyclic nucleotide phosphodiesterase: biochemical and mutational analysis.

Shenoy AR, Sreenath N, Podobnik M, Kovacevic M, Visweswariah SS.

Biochemistry. 2005 Dec 6;44(48):15695-704.

PMID:
16313172
5.

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
6.

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
7.

[Association between WAGR syndrome and diaphragmatic hernia].

Martín Campagne E, Guerrero Fernández J, Gracia Bouthelier R, Tovar Larrucea JA.

An Pediatr (Barc). 2006 Dec;65(6):616-8. Spanish.

8.

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
9.

Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity.

Jung R, Rauch A, Salomons GS, Verhoeven NM, Jakobs C, Michael Gibson K, Lachmann E, Sass JO, Trautmann U, Zweier C, Staatz G, Knerr I.

Mol Genet Metab. 2006 Jul;88(3):256-60. Epub 2006 Mar 20.

PMID:
16545979
10.

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
11.

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
12.

[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
13.

A phosphate-binding histidine of binuclear metallophosphodiesterase enzymes is a determinant of 2',3'-cyclic nucleotide phosphodiesterase activity.

Keppetipola N, Shuman S.

J Biol Chem. 2008 Nov 7;283(45):30942-9. doi: 10.1074/jbc.M805064200. Epub 2008 Aug 28.

14.

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
15.

WAGR syndrome--a case report.

Starcević M, Mataija M.

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

PMID:
20405644
16.

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.

17.

WAGR syndrome: is the 'R' always justified?

Termine C, Parigi G, Rossi M, Romano P, Balottin U.

Clin Dysmorphol. 2007 Jan;16(1):69-70.

PMID:
17159522
18.

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
19.

Focal segmental glomerulosclerosis in solitary kidney in WAGR syndrome.

Merta M, Reiterová J, Krkavcová M, Rysavá R, Kmentová D, Tesar V.

Prague Med Rep. 2004;105(1):69-73.

PMID:
15354948
20.

Purification and characterization of Caenorhabditis elegans NTH, a homolog of human endonuclease III: essential role of N-terminal region.

Morinaga H, Yonekura S, Nakamura N, Sugiyama H, Yonei S, Zhang-Akiyama QM.

DNA Repair (Amst). 2009 Jul 4;8(7):844-51. doi: 10.1016/j.dnarep.2009.04.020. Epub 2009 May 28.

PMID:
19481506

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