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Items: 1 to 20 of 418

1.

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
2.

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.

3.

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
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.

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
6.

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.

7.

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
8.

[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
9.

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.

10.

11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report.

Almind GJ, Brøndum-Nielsen K, Bangsgaard R, Baekgaard P, Grønskov K.

Mol Cytogenet. 2009 Feb 17;2:6. doi: 10.1186/1755-8166-2-6.

11.

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
12.

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
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.

A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.

Harvard C, Malenfant P, Koochek M, Creighton S, Mickelson EC, Holden JJ, Lewis ME, Rajcan-Separovic E.

Clin Genet. 2005 Apr;67(4):341-51.

PMID:
15733271
15.

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
16.

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
17.

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
18.

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
19.

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
20.

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.

Ullmann R, Turner G, Kirchhoff M, Chen W, Tonge B, Rosenberg C, Field M, Vianna-Morgante AM, Christie L, Krepischi-Santos AC, Banna L, Brereton AV, Hill A, Bisgaard AM, Müller I, Hultschig C, Erdogan F, Wieczorek G, Ropers HH.

Hum Mutat. 2007 Jul;28(7):674-82.

PMID:
17480035

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