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Items: 1 to 20 of 197

1.

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
2.

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
3.

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
4.

A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus.

Crolla JA, Cawdery JE, Oley CA, Young ID, Gray J, Fantes J, van Heyningen V.

J Med Genet. 1997 Mar;34(3):207-12.

5.

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
6.

[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
7.

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
8.

The distal region of 11p13 and associated genetic diseases.

Mannens M, Hoovers JM, Bleeker-Wagemakers EM, Redeker E, Bliek J, Overbeeke-Melkert M, Saunders G, Williams B, van Heyningen V, Junien C, et al.

Genomics. 1991 Oct;11(2):284-93.

PMID:
1769647
9.

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
10.

Homozygous inactivation of WT1 in a Wilms' tumor associated with the WAGR syndrome.

Gessler M, König A, Moore J, Qualman S, Arden K, Cavenee W, Bruns G.

Genes Chromosomes Cancer. 1993 Jul;7(3):131-6.

PMID:
7687865
11.

Bilateral preaxial polydactyly in a WAGR syndrome patient.

Manoukian S, Crolla JA, Mammoliti PM, Testi MA, Zanini R, Carpanelli ML, Piozzi E, Sozzi G, De Vecchi G, Terenziani M, Spreafico F, Collini P, Radice P, Perotti D.

Am J Med Genet A. 2005 May 1;134(4):426-9.

PMID:
15742368
12.

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
13.

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
14.

Role for the Wilms tumor gene in genital development?

van Heyningen V, Bickmore WA, Seawright A, Fletcher JM, Maule J, Fekete G, Gessler M, Bruns GA, Huerre-Jeanpierre C, Junien C, et al.

Proc Natl Acad Sci U S A. 1990 Jul;87(14):5383-6.

15.

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.

16.

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
17.

A 1.7-Mb YAC contig around the human BDNF gene (11p13): integration of the physical, genetic, and cytogenetic maps in relation to WAGR syndrome.

Rosier MF, Goguel AF, Martin A, Le Paslier D, Couillin P, Houlgatte R, Bernheim A, Auffray C, Devignes MD.

Genomics. 1994 Nov 1;24(1):69-77.

PMID:
7896291
18.

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.

19.

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
20.

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

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