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2007

17. Fortuitous FISH diagnosis of an interstitial microdeletion (5)(q31.1q31.2) in a girl suspected to present a cri-du-chat syndrome. MOSCA AL, CALLIER P, LEHEUP B, MARLE N, JALLOUL M, COFFINET L, FEILLET F, VALDUGA M, JONVEAUX P, MUGNERET F. Am J Med Genet A. 2007 Jun 15;143A(12):1342-7.

 

18. Inborn errors of metabolism and long-term skeletal outcome.  FEILLET, F. Arch Pediatr. 2007 Jun;14(6):552-4. Epub 2007 Mar 27.

 

19. Management of phenylketonuria and hyperphenylalaninemia. DE BAULNY HO, ABADIE V, FEILLET F, DE PARSCAU L.  J Nutr. 2007 Jun;137(6 Suppl 1):1561S-1563S

 

20. Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study. LEVY HL, MILANOWSKI A, CHAKRAPANI A, CLEARY M, LEE P, TREFZ FK, WHITLEY CB, FEILLET, F, FEIGENBAUM AS, BEBCHUK JD, CHRIST-SCHMIDT H, DORENBAUM A; Sapropterin Research Group. Lancet. 2007 Aug 11;370(9586):504-10.

 

21. The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study. BURTON BK, GRANGE DK, MILANOWSKI A, VOCKLEY G, FEILLET F, CROMBEZ EA, ABADIE V, HARDING CO, CEDERBAUM S, DOBBELAERE D, SMITH A, DORENBAUM A. J Inherit Metab Dis. 2007 Oct;30(5):700-7. Epub 2007 Sep 12.

22. GARNOTEL, R. Le dépistage néonatal contre une goutte de sang. Impact Médecine, 15 novembre 2007.

 

23. GARNOTEL, R. Vers un dépistage néonatal élargi ? La revue du Praticien, 2 octobre 2007.

 

24. GUEANT JL, , CHABI NW, GUEANT-RODRIGUEZ RM, MUTCHINICK OM, , DEBARD R, PAYET C, LU X, VILLAUME C, BRONOWICKI JP, QUADROS E, SANNI A, AMOUZOU E, XIA B, CHEN M, ANELLO G, BOSCO P, ROMANO C, ARRIETA HR, SANCHEZ BE, ROMANO A, HERBETH B, NAMOUR F.  Environmental influence of the world wide prevalence of a 776C>G variant in the transcobalamin gene (TCN2) J Med Genet, 2007, 44, 363-367

 

25.  BLAISE SA, NEDELEC E, SCHROEDER H, ALBERTO JM, BOSSENMEYER-POURIE C, GUEANT JL, DAVAL JL. Gestational vitamin B deficiency leads to homocysteine-induced brain apoptosis and alters neurobehavioural development in rats. Am. J. Pathol., 2007, 170, 667-679

 

26.  CANDITO M, NAIMI M, BOISSON C, RUDIGOZ JC, GAUCHERAND P, GUEANT JL, LUTON D, OBBERGHEN EV. Plasma vitamin values and antiepileptic therapy : case reports of pregnancy outcomes affected by a neural tube defect. Birth Defects Res.. A. Clin. Mol. Teratol., 2007, 79, 62-64

 

27.  PEYRIN-BIROULET L, RODRIGUEZ-GUEANT RM, CHAMAILALRD M, DESREUMAUX P, XIA B, BRONOWICKI JP,  BIGARD MA, GUEANT JL. Vascular and cellular stress in inflammatory bowel disease : revisiting the role of homocysteine. Am. J. Gastronterol., 2007, 102, 1108-1115

 

28.  FORGES T, MONNIER-BARBARINO P, ALBERTO JM, GUEANT-RODRIGUEZ RM, DAVAL JL, GUEANT JL. Impact of folate and homosyteine metabolism on human reproductive health.
Hum. Reprod. Update, 2007, 13, 225-238

 

29.  GUEANT JL, ELIA M, ROMANO A. Associations between folate, vitamine B(12), homocystein and pathologies related to aging : the need to consider complex nutrient-nutrient and gene-nutrient interactions and the functional and socio-economic determinants in population-based studies.
Clin. Chem. Lab. Med., 2007, 45, 127-129

 

30.  SPADA RS,  STELLA G,  CALABRESE S, BOSCO P, ANELLO G, GUEANT-RODRIGUEZ RM, ROMANO A, BENEMGHAR L, FONTAINE T, GUEANT JL. Association of vitamin B(12), folate and homocysteine with functional and pathological characteristics of the elderly in a mountainous village in Sicily. Clin. Chem. Lab. Med., 2007, 45, 136-142

 

31.  STELLA G, SPADA RS, CALABRESE S, BOSCO P, ANELLO G, GUEANT-RODRIGUEZ RM, ROMANO A, BENAMGHAR L, PROTO C, CASTELLANO A, FAJARDO A, LIPARI L, SIRNA S, GUEANT JL. Association of thyroid dysfunction with vitamin B(12), folate and plasma homocysteine levels in the elderly : a population-based study in Sicily. Clin. Chem. Lab. Med., 2007, 45, 143-147

32.  GUEANT-RODRIGUEZ RM, JUILLIERE Y, NIPPERT M, ABDELMOUTTALEB I, ALIOT E, DANCHIN N, GUEANT JL. Left ventricular systolic dysfunction is an independent predictor of homocysteinemie in angiographically documented patients with or without coronary artery lesions.
J Thrombosis and Haemostasis 2007, 5, 1209-1216

 

33.  ALBERTO J.M., HAMELET, J., NOLL C., BLAISE S., BRONOWICKI J.P., GUEANT J.L, DELABAR J.M., JANEL N. Mice deficient in cystathionine beta synthase display altered homocysteine remethylation pathway. Mol. Genet. Metab. 2007, 91, 396-398

 

34.  MARGUERITE V., BERI-DEXHEIMER M., ORTIOU S., GUEANT J.L., MERTEN M.
Cobalamin potentiallizes vinblastine cytotoxicity through downregulation of mdr-1 gene expression in HEPG2 cells. Cell. Physiol. Biochem., 2007, 20, 967-976

 

35.  ABDEL NOUR AM, RINGOT D, GUEANT JL, CHANGO A. Folate receptor and human reduced folate carrier expression in HepG2 cell line exposed to fumosin B1 and folate deficiency. Carcinogenesis, 2007, 28, 2291-2297

 

36.  BLAISE SA, ALBERTO JM, AUDONNET-BLAISE S, GUEANT JL, DAVAL J Influence of preconditioning-like hypoxia on the liver of developing methyl-deficient rat. Am. J. Physiol. Endocrinol. Metab., 2007,  293, 1492-1502

 

37.  PEYRIN-BIROULET P, GUEANT JL, ROCHA AM, ROCHA GA, GA, MARINO MC, QUEIROZ DM. Does hyperhmocysteinemia contribute to gastric carcinogenesis in Helicobacter pylori infected patients ? Gut, 2007, 56, 1480

 

38.  LIDOVE O, BEKRI S, GOIZET C, KHAU VAN KIEN A, ARACTINGI S, KNEBELMANN B, CHOUKROUN G, TSIMARATOS M, REDONNET-VERNHET I, LACOMBE D, JAUSSAUD R. Fabry disease: proposed guidelines for its diagnosis, treatment and follow-up. Presse Med. 2007 ;36 :1084-97.

 

39.  ORTEU CH, JANSEN T, LIDOVE O, JAUSSAUD R, BECK M, SUNDER-PLASSMAN G, LINHART A, MEHTA A. Fabry disease and the skin : data from FOS, the Fabry Outcome Survey. Br J Dermatol 2007;157:331-7.

 

40.  LIDOVE O, JOLY D, BARBEY F, BEKRI S, ALEXANDRA JF, PEIGNE V, JAUSSAUD R, Papo T. Clinical results of enzyme replacement therapy in Fabry disease: a comprehensive review of literature. Int J Clin Pract. 2007 Feb;61(2):293-302.

 

41.  Cobalamin metabolism disorders in adult patients.THAUVIN-ROBINET C, ROZE E. Rev Neurol (Paris). 2007 Oct;163(10):911-8. Review. French.

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