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Items: 7


Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity.

Ernst C, Marshall CR, Shen Y, Metcalfe K, Rosenfeld J, Hodge JC, Torres A, Blumenthal I, Chiang C, Pillalamarri V, Crapper L, Diallo AB, Ruderfer D, Pereira S, Sklar P, Purcell S, Wildin RS, Spencer AC, Quade BF, Harris DJ, Lemyre E, Wu BL, Stavropoulos DJ, Geraghty MT, Shaffer LG, Morton CC, Scherer SW, Gusella JF, Talkowski ME.

Arch Gen Psychiatry. 2012 Dec;69(12):1238-46. doi: 10.1001/archgenpsychiatry.2012.660.


Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation.

Palka C, Alfonsi M, Mohn A, Guanciali Franchi P, Chiarelli F, Calabrese G.

Mol Syndromol. 2012 Apr;2(6):259-261. Epub 2012 Apr 27.


Structural Chromosome Abnormalities Associated with Obesity: Report of Four New subjects and Review of Literature.

Dasouki MJ, Youngs EL, Hovanes K.

Curr Genomics. 2011 May;12(3):190-203. doi: 10.2174/138920211795677930.


Eye anomalies and neurological manifestations in patients with PAX6 mutations.

Chien YH, Huang HP, Hwu WL, Chien YH, Chang TC, Lee NC.

Mol Vis. 2009 Oct 22;15:2139-45.


Analysis of Pax6 contiguous gene deletions in the mouse, Mus musculus, identifies regions distinct from Pax6 responsible for extreme small-eye and belly-spotting phenotypes.

Favor J, Bradley A, Conte N, Janik D, Pretsch W, Reitmeir P, Rosemann M, Schmahl W, Wienberg J, Zaus I.

Genetics. 2009 Aug;182(4):1077-88. doi: 10.1534/genetics.109.104562. Epub 2009 May 27.


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.


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.

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