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Items: 1 to 20 of 75

1.

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
2.

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.

3.

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.

4.

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
5.

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
6.

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
7.

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
8.

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
9.

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
10.

Lack of association between brain-derived neurotrophic factor Val66Met polymorphism and body mass index change over time in healthy adults.

Nikolac Perkovic M, Mustapic M, Pavlovic M, Uzun S, Kozumplik O, Barisic I, Muck-Seler D, Pivac N.

Neurosci Lett. 2013 Jun 17;545:127-31. doi: 10.1016/j.neulet.2013.04.036. Epub 2013 May 2.

PMID:
23643991
11.

Met66 in the brain-derived neurotrophic factor (BDNF) precursor is associated with anorexia nervosa restrictive type.

Ribasés M, Gratacòs M, Armengol L, de Cid R, Badía A, Jiménez L, Solano R, Vallejo J, Fernández F, Estivill X.

Mol Psychiatry. 2003 Aug;8(8):745-51.

PMID:
12888803
12.

A complex polymorphic region in the brain-derived neurotrophic factor (BDNF) gene confers susceptibility to bipolar disorder and affects transcriptional activity.

Okada T, Hashimoto R, Numakawa T, Iijima Y, Kosuga A, Tatsumi M, Kamijima K, Kato T, Kunugi H.

Mol Psychiatry. 2006 Jul;11(7):695-703. Epub 2006 Mar 28.

PMID:
16568151
13.

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
14.

Mutation screen of the brain derived neurotrophic factor gene (BDNF): identification of several genetic variants and association studies in patients with obesity, eating disorders, and attention-deficit/hyperactivity disorder.

Friedel S, Horro FF, Wermter AK, Geller F, Dempfle A, Reichwald K, Smidt J, Brönner G, Konrad K, Herpertz-Dahlmann B, Warnke A, Hemminger U, Linder M, Kiefl H, Goldschmidt HP, Siegfried W, Remschmidt H, Hinney A, Hebebrand J.

Am J Med Genet B Neuropsychiatr Genet. 2005 Jan 5;132B(1):96-9.

PMID:
15457498
15.

Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome.

Burns B, Schmidt K, Williams SR, Kim S, Girirajan S, Elsea SH.

Hum Mol Genet. 2010 Oct 15;19(20):4026-42. doi: 10.1093/hmg/ddq317. Epub 2010 Jul 27.

PMID:
20663924
16.

Screening for genetic variants in BDNF that contribute to childhood obesity.

Zegers D, Hendrickx R, Verrijken A, Van Hoorenbeeck K, Van Camp JK, de Craemer V, Rooman RP, Desager KN, Massa G, Van Gaal LF, Van Hul W, Beckers S.

Pediatr Obes. 2014 Feb;9(1):36-42. doi: 10.1111/j.2047-6310.2012.00131.x. Epub 2013 Jan 16.

PMID:
23325614
17.

Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion.

Brémond-Gignac D, Crolla JA, Copin H, Guichet A, Bonneau D, Taine L, Lacombe D, Baumann C, Benzacken B, Verloes A.

Eur J Hum Genet. 2005 Apr;13(4):409-13.

18.

Brain-derived neurotrophic factor, food intake regulation, and obesity.

Rosas-Vargas H, Martínez-Ezquerro JD, Bienvenu T.

Arch Med Res. 2011 Aug;42(6):482-94. doi: 10.1016/j.arcmed.2011.09.005. Epub 2011 Sep 22. Review.

PMID:
21945389
19.

Obesity and WAGR syndrome.

Tiberio G, Digilio MC, Giannotti A.

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

PMID:
10649802
20.

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.

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