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Items: 1 to 20 of 248

1.

Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.

Raux G, Bumsel E, Hecketsweiler B, van Amelsvoort T, Zinkstok J, Manouvrier-Hanu S, Fantini C, Brévière GM, Di Rosa G, Pustorino G, Vogels A, Swillen A, Legallic S, Bou J, Opolczynski G, Drouin-Garraud V, Lemarchand M, Philip N, Gérard-Desplanches A, Carlier M, Philippe A, Nolen MC, Heron D, Sarda P, Lacombe D, Coizet C, Alembik Y, Layet V, Afenjar A, Hannequin D, Demily C, Petit M, Thibaut F, Frebourg T, Campion D.

Hum Mol Genet. 2007 Jan 1;16(1):83-91. Epub 2006 Nov 29.

PMID:
17135275
2.

Hyperprolinemia is a risk factor for schizoaffective disorder.

Jacquet H, Demily C, Houy E, Hecketsweiler B, Bou J, Raux G, Lerond J, Allio G, Haouzir S, Tillaux A, Bellegou C, Fouldrin G, Delamillieure P, Ménard JF, Dollfus S, D'Amato T, Petit M, Thibaut F, Frébourg T, Campion D.

Mol Psychiatry. 2005 May;10(5):479-85.

PMID:
15494707
3.

Early neurological phenotype in 4 children with biallelic PRODH mutations.

Afenjar A, Moutard ML, Doummar D, Guët A, Rabier D, Vermersch AI, Mignot C, Burglen L, Heron D, Thioulouse E, de Villemeur TB, Campion D, Rodriguez D.

Brain Dev. 2007 Oct;29(9):547-52. Epub 2007 Apr 6.

PMID:
17412540
4.

Genes, brain development and psychiatric phenotypes in velo-cardio-facial syndrome.

Gothelf D, Schaer M, Eliez S.

Dev Disabil Res Rev. 2008;14(1):59-68. doi: 10.1002/ddrr.9. Review.

PMID:
18636637
5.

Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome.

Prasad SE, Howley S, Murphy KC.

Dev Disabil Res Rev. 2008;14(1):26-34. doi: 10.1002/ddrr.5. Review.

PMID:
18636634
6.

Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation.

Di Rosa G, Pustorino G, Spano M, Campion D, Calabrò M, Aguennouz M, Caccamo D, Legallic S, Sgro DL, Bonsignore M, Tortorella G.

Psychiatr Genet. 2008 Feb;18(1):40-2. doi: 10.1097/YPG.0b013e3282f08a3d.

PMID:
18197084
7.

High rates of schizophrenia in adults with velo-cardio-facial syndrome.

Murphy KC, Jones LA, Owen MJ.

Arch Gen Psychiatry. 1999 Oct;56(10):940-5.

PMID:
10530637
8.

Functional consequences of PRODH missense mutations.

Bender HU, Almashanu S, Steel G, Hu CA, Lin WW, Willis A, Pulver A, Valle D.

Am J Hum Genet. 2005 Mar;76(3):409-20. Epub 2005 Jan 20.

9.

PRODH mutations and hyperprolinemia in a subset of schizophrenic patients.

Jacquet H, Raux G, Thibaut F, Hecketsweiler B, Houy E, Demilly C, Haouzir S, Allio G, Fouldrin G, Drouin V, Bou J, Petit M, Campion D, Frébourg T.

Hum Mol Genet. 2002 Sep 15;11(19):2243-9.

PMID:
12217952
10.

Genetic variation in COMT and PRODH is associated with brain anatomy in patients with schizophrenia.

Zinkstok J, Schmitz N, van Amelsvoort T, Moeton M, Baas F, Linszen D.

Genes Brain Behav. 2008 Feb;7(1):61-9. Epub 2007 May 14.

11.

Association between autism spectrum disorder in individuals with velocardiofacial (22q11.2 deletion) syndrome and PRODH and COMT genotypes.

Radoeva PD, Coman IL, Salazar CA, Gentile KL, Higgins AM, Middleton FA, Antshel KM, Fremont W, Shprintzen RJ, Morrow BE, Kates WR.

Psychiatr Genet. 2014 Dec;24(6):269-72. doi: 10.1097/YPG.0000000000000062.

12.

Type I hyperprolinemia: genotype/phenotype correlations.

Guilmatre A, Legallic S, Steel G, Willis A, Di Rosa G, Goldenberg A, Drouin-Garraud V, Guet A, Mignot C, Des Portes V, Valayannopoulos V, Van Maldergem L, Hoffman JD, Izzi C, Espil-Taris C, Orcesi S, Bonafé L, Le Galloudec E, Maurey H, Ioos C, Afenjar A, Blanchet P, Echenne B, Roubertie A, Frebourg T, Valle D, Campion D.

Hum Mutat. 2010 Aug;31(8):961-5. doi: 10.1002/humu.21296.

PMID:
20524212
14.

Cognitive correlates of a functional COMT polymorphism in children with 22q11.2 deletion syndrome.

Shashi V, Keshavan MS, Howard TD, Berry MN, Basehore MJ, Lewandowski E, Kwapil TR.

Clin Genet. 2006 Mar;69(3):234-8.

PMID:
16542388
15.

Velo-cardio-facial syndrome.

Shprintzen RJ, Higgins AM, Antshel K, Fremont W, Roizen N, Kates W.

Curr Opin Pediatr. 2005 Dec;17(6):725-30. Review.

PMID:
16282778
16.

The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.

Richard AC, Rovelet-Lecrux A, Delaby E, Charbonnier C, Thiruvahindrapuram B, Hatchwell E, Eis PS, Afenjar A, Dussardier BG, Scherer SW, Betancur C, Campion D.

Am J Med Genet B Neuropsychiatr Genet. 2016 Apr;171B(3):377-82. doi: 10.1002/ajmg.b.32416. Epub 2016 Jan 14.

17.

[In search of susceptibility genes for schizophrenia].

Schosser A, Aschauer HN.

Wien Klin Wochenschr. 2004 Dec 30;116(24):827-33. Review. German.

PMID:
15690966
18.

Association of COMT and PRODH gene variants with intelligence quotient (IQ) and executive functions in 22q11.2DS subjects.

Carmel M, Zarchi O, Michaelovsky E, Frisch A, Patya M, Green T, Gothelf D, Weizman A.

J Psychiatr Res. 2014 Sep;56:28-35. doi: 10.1016/j.jpsychires.2014.04.019. Epub 2014 May 9.

PMID:
24853458
19.

PRODH rs450046 and proline x COMT Val¹⁵⁸ Met interaction effects on intelligence and startle in adults with 22q11 deletion syndrome.

de Koning MB, van Duin ED, Boot E, Bloemen OJ, Bakker JA, Abel KM, van Amelsvoort TA.

Psychopharmacology (Berl). 2015 Sep;232(17):3111-22. doi: 10.1007/s00213-015-3971-5. Epub 2015 Jun 12.

PMID:
26068888
20.

Effects of a functional COMT polymorphism on brain anatomy and cognitive function in adults with velo-cardio-facial syndrome.

van Amelsvoort T, Zinkstok J, Figee M, Daly E, Morris R, Owen MJ, Murphy KC, De Haan L, Linszen DH, Glaser B, Murphy DG.

Psychol Med. 2008 Jan;38(1):89-100. Epub 2007 May 10.

PMID:
17493297

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