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Items: 1 to 20 of 184

1.

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
2.

[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
3.

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
4.

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
5.

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
6.

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
7.

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
8.

[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.

9.

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
10.

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
11.

The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.

Gibson KM, Christensen E, Jakobs C, Fowler B, Clarke MA, Hammersen G, Raab K, Kobori J, Moosa A, Vollmer B, Rossier E, Iafolla AK, Matern D, Brouwer OF, Finkelstein J, Aksu F, Weber HP, Bakkeren JA, Gabreels FJ, Bluestone D, Barron TF, Beauvais P, Rabier D, Santos C, Lehnert W, et al.

Pediatrics. 1997 Apr;99(4):567-74.

PMID:
9093300
12.

Succinic semialdehyde dehydrogenase (SSADH) deficiency: Molecular analysis in a South American family.

Lemes A, Blasi P, Gonzales G, Russi ME, Quadrelli R, Novelletto A, Malaspina P.

J Inherit Metab Dis. 2006 Aug;29(4):587. Epub 2006 Jun 19.

PMID:
16788854
13.

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
14.

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
15.

Renal pathology in WAGR syndrome.

Ariel I, Abeliovich D, Bar-ziv J, Hochberg A.

Pediatr Pathol Lab Med. 1996 Nov-Dec;16(6):1013-21.

PMID:
9025899
16.

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.

17.

Wilms' tumor and associated malformations; report of two cases with WAGR and Drash syndrome.

Ozbey H, Boneval C, Kapran Y, Aksöyek S, Salman T, Celik A.

Eur J Pediatr Surg. 1996 Jun;6(3):186-8.

PMID:
8817218
18.

Obesity and WAGR syndrome.

Tiberio G, Digilio MC, Giannotti A.

Clin Dysmorphol. 2000 Jan;9(1):63-4.

PMID:
10649802
19.

WAGR syndrome--a case report.

Starcević M, Mataija M.

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

PMID:
20405644
20.

Vigabatrin and newer interventions in succinic semialdehyde dehydrogenase deficiency.

Gropman A.

Ann Neurol. 2003;54 Suppl 6:S66-72. Review.

PMID:
12891656

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