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Journal Abstract Search

107 related items for PubMed ID: 8803768

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  • 4. The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene.
    Jacquet H, Berthelot J, Bonnemains C, Simard G, Saugier-Veber P, Raux G, Campion D, Bonneau D, Frebourg T.
    J Med Genet; 2003 Jan; 40(1):e7. PubMed ID: 12525555
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  • 5. 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 01; 16(1):83-91. PubMed ID: 17135275
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  • 7. [22q11.2 deletion syndrome].
    Ishikawa T.
    Nihon Rinsho; 2006 Jun 28; Suppl 2():70-3. PubMed ID: 16817353
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  • 8. Functional analysis of polymorphisms in the promoter regions of genes on 22q11.
    Hoogendoorn B, Coleman SL, Guy CA, Smith SK, O'Donovan MC, Buckland PR.
    Hum Mutat; 2004 Jul 28; 24(1):35-42. PubMed ID: 15221787
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  • 11. Deletion in chromosome region 22q11 in a child with CHARGE association.
    Devriendt K, Swillen A, Fryns JP.
    Clin Genet; 1998 May 28; 53(5):408-10. PubMed ID: 9660062
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  • 13. Microdeletion of 22q11 (CATCH 22) in children with conotruncal heart defect and extracardiac malformations.
    Alikaşifoğlu M, Malkoç N, Ceviz N, Ozme S, Uludoğan S, Tunçbilek E.
    Turk J Pediatr; 2000 May 28; 42(3):215-8. PubMed ID: 11105620
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  • 15. 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, Gilbert Dussardier B, Scherer SW, Betancur C, Campion D.
    Am J Med Genet B Neuropsychiatr Genet; 2016 Apr 28; 171B(3):377-82. PubMed ID: 26978485
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  • 18. 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. PubMed ID: 12217952
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