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    Results: 1 to 50 of 174

    1.

    Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy.

    Cartier N, Hacein-Bey-Abina S, Bartholomae CC, Veres G, Schmidt M, Kutschera I, Vidaud M, Abel U, Dal-Cortivo L, Caccavelli L, Mahlaoui N, Kiermer V, Mittelstaedt D, Bellesme C, Lahlou N, Lefrère F, Blanche S, Audit M, Payen E, Leboulch P, l'Homme B, Bougnères P, Von Kalle C, Fischer A, Cavazzana-Calvo M, Aubourg P.

    Science. 2009 Nov 6;326(5954):818-23.PMID: 19892975 [PubMed - in process]Related articles

    2.

    Adeno-associated Virus Gene Therapy With Cholesterol 24-Hydroxylase Reduces the Amyloid Pathology Before or After the Onset of Amyloid Plaques in Mouse Models of Alzheimer's Disease.

    Hudry E, Van Dam D, Kulik W, De Deyn PP, Stet FS, Ahouansou O, Benraiss A, Delacourte A, Bougnères P, Aubourg P, Cartier N.

    Mol Ther. 2009 Aug 4. [Epub ahead of print]PMID: 19654569 [PubMed - as supplied by publisher]Related articles

    3.

    [How hypospadias should be investigated?]

    Bouvattier C, Gay CL, Bougnères P, Chatelain P.

    Arch Pediatr. 2009 Jun;16(6):948-50. French. No abstract available. PMID: 19541232 [PubMed - indexed for MEDLINE]Related articles

    4.

    [Neonatal management of disorders of sex differentiation]

    Bouvattier C, David M, Gay CL, Bougnères P, Chatelain P.

    Arch Pediatr. 2009 Jun;16(6):585-7. French. No abstract available. PMID: 19541094 [PubMed - indexed for MEDLINE]Related articles

    5.

    D3 GH receptor polymorphism is not associated with IGF1 levels in untreated acromegaly.

    Kamenicky P, Dos Santos C, Espinosa C, Salenave S, Galland F, Le Bouc Y, Maison P, Bougnères P, Chanson P.

    Eur J Endocrinol. 2009 Aug;161(2):231-5. Epub 2009 May 13.PMID: 19439509 [PubMed - indexed for MEDLINE]Related articles

    6.

    Towards a new developmental synthesis: adaptive developmental plasticity and human disease.

    Gluckman PD, Hanson MA, Bateson P, Beedle AS, Law CM, Bhutta ZA, Anokhin KV, Bougnères P, Chandak GR, Dasgupta P, Smith GD, Ellison PT, Forrester TE, Gilbert SF, Jablonka E, Kaplan H, Prentice AM, Simpson SJ, Uauy R, West-Eberhard MJ.

    Lancet. 2009 May 9;373(9675):1654-7. Review. No abstract available. PMID: 19427960 [PubMed - indexed for MEDLINE]Related articles

    7.

    In obese and non-obese adults, the cis-regulatory rs361072 promoter variant of PIK3CB is associated with insulin resistance not with type 2 diabetes.

    Clément K, Le Stunff C, Meirhaeghe A, Dechartres A, Ferrieres J, Basdevant A, Boitard C, Amouyel P, Bougnères P.

    Mol Genet Metab. 2009 Mar;96(3):129-32. Epub 2008 Dec 18.PMID: 19097921 [PubMed - indexed for MEDLINE]Related articles

    8.

    Causes of early-onset type 1 diabetes: toward data-driven environmental approaches.

    Bougnères P, Valleron AJ.

    J Exp Med. 2008 Dec 22;205(13):2953-7.PMID: 19075294 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

    Effects of a controlled hypoglycaemia test on QTc in adolescents with Type 1 diabetes.

    Rothenbuhler A, Bibal CP, Le Fur S, Bougneres P.

    Diabet Med. 2008 Dec;25(12):1483-5.PMID: 19046250 [PubMed - indexed for MEDLINE]Related articles

    11.

    Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome.

    De Pontual L, Trochet D, Caillat-Zucman S, Abou Shenab OA, Bougneres P, Crow Y, Cunningham S, Esteva B, Heberle LC, Leger J, Pinto G, Polak M, Shafik MH, Straus C, Trang H, Munnich A, Lyonnet S, Desguerre I, Amiel J.

    Pediatr Res. 2008 Dec;64(6):689-94.PMID: 18670370 [PubMed - indexed for MEDLINE]Related articles

    12.

    Endocrine manifestations of the rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, and neural tumor syndrome in childhood.

    Bougnères P, Pantalone L, Linglart A, Rothenbühler A, Le Stunff C.

    J Clin Endocrinol Metab. 2008 Oct;93(10):3971-80. Epub 2008 Jul 15.PMID: 18628522 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

    Effects of an early postnatal treatment of hypogonadotropic hypogonadism with a continuous subcutaneous infusion of recombinant follicle-stimulating hormone and luteinizing hormone.

    Bougnères P, François M, Pantalone L, Rodrigue D, Bouvattier C, Demesteere E, Roger D, Lahlou N.

    J Clin Endocrinol Metab. 2008 Jun;93(6):2202-5. Epub 2008 Apr 1.PMID: 18381569 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    Akt phosphorylation in lymphocytes provides an index of in vitro insulin-like growth factor I sensitivity associated with growth hormone-induced growth.

    Lotton C, Rodrigue D, Elie C, Rothenbühler A, Lahlou N, Le Stunff C, Bougnères P.

    J Clin Endocrinol Metab. 2008 Apr;93(4):1458-63. Epub 2008 Feb 5.PMID: 18252783 [PubMed - indexed for MEDLINE]Related articlesFree article

    15.

    Gonadotrophic status in adolescents with pituitary stalk interruption syndrome.

    Rottembourg D, Linglart A, Adamsbaum C, Lahlou N, Teinturier C, Bougnères P, Carel JC.

    Clin Endocrinol (Oxf). 2008 Jul;69(1):105-11. Epub 2008 Jul 1.PMID: 18088398 [PubMed - indexed for MEDLINE]Related articles

    16.

    Association analysis indicates that a variant GATA-binding site in the PIK3CB promoter is a Cis-acting expression quantitative trait locus for this gene and attenuates insulin resistance in obese children.

    Le Stunff C, Dechartres A, Mariot V, Lotton C, Trainor C, Miraglia Del Giudice E, Meyre D, Bieche I, Laurendeau I, Froguel P, Zelenika D, Fallin D, Lathrop M, Roméo PH, Bougnères P.

    Diabetes. 2008 Feb;57(2):494-502. Epub 2007 Oct 31.PMID: 17977952 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    A single-nucleotide polymorphism in the p110beta gene promoter is associated with partial protection from insulin resistance in severely obese adolescents.

    Le Stunff C, Dechartres A, Miraglia Del Giudice E, Froguel P, Bougnères P.

    J Clin Endocrinol Metab. 2008 Jan;93(1):212-5. Epub 2007 Oct 30.PMID: 17971428 [PubMed - indexed for MEDLINE]Related articlesFree article

    18.

    Genetic study of the melanin-concentrating hormone receptor 2 in childhood and adulthood severe obesity.

    Ghoussaini M, Vatin V, Lecoeur C, Abkevich V, Younus A, Samson C, Wachter C, Heude B, Tauber M, Tounian P, Hercberg S, Weill J, Levy-Marchal C, Le Stunff C, Bougnères P, Froguel P, Meyre D.

    J Clin Endocrinol Metab. 2007 Nov;92(11):4403-9. Epub 2007 Aug 14.PMID: 17698913 [PubMed - indexed for MEDLINE]Related articlesFree article

    19.

    Non-synonymous polymorphisms in melanocortin-4 receptor protect against obesity: the two facets of a Janus obesity gene.

    Stutzmann F, Vatin V, Cauchi S, Morandi A, Jouret B, Landt O, Tounian P, Levy-Marchal C, Buzzetti R, Pinelli L, Balkau B, Horber F, Bougnères P, Froguel P, Meyre D.

    Hum Mol Genet. 2007 Aug 1;16(15):1837-44. Epub 2007 May 21.PMID: 17519222 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    Variation in FTO contributes to childhood obesity and severe adult obesity.

    Dina C, Meyre D, Gallina S, Durand E, Körner A, Jacobson P, Carlsson LM, Kiess W, Vatin V, Lecoeur C, Delplanque J, Vaillant E, Pattou F, Ruiz J, Weill J, Levy-Marchal C, Horber F, Potoczna N, Hercberg S, Le Stunff C, Bougnères P, Kovacs P, Marre M, Balkau B, Cauchi S, Chèvre JC, Froguel P.

    Nat Genet. 2007 Jun;39(6):724-6. Epub 2007 May 13.PMID: 17496892 [PubMed - indexed for MEDLINE]Related articles

    21.

    Quantitative trait loci for fasting glucose in young Europeans replicate previous findings for type 2 diabetes in 2q23-24 and other locations.

    Fradin D, Heath S, Lathrop M, Bougnères P.

    Diabetes. 2007 Jun;56(6):1742-5. Epub 2007 Apr 6.PMID: 17416800 [PubMed - indexed for MEDLINE]Related articlesFree article

    22.

    The growth hormone receptor in growth.

    Bougnères P, Goffin V.

    Endocrinol Metab Clin North Am. 2007 Mar;36(1):1-16. Review.PMID: 17336731 [PubMed - indexed for MEDLINE]Related articles

    23.

    Three common intronic variants in the maternal and fetal thiamine pyrophosphokinase gene (TPK1) are associated with birth weight.

    Fradin D, Bougneres P.

    Ann Hum Genet. 2007 Sep;71(Pt 5):578-85. Epub 2007 Feb 12.PMID: 17295612 [PubMed - indexed for MEDLINE]Related articles

    24.

    Impaired sexual and reproductive outcomes in women with classical forms of congenital adrenal hyperplasia.

    Gastaud F, Bouvattier C, Duranteau L, Brauner R, Thibaud E, Kutten F, Bougnères P.

    J Clin Endocrinol Metab. 2007 Apr;92(4):1391-6. Epub 2007 Feb 6.PMID: 17284631 [PubMed - indexed for MEDLINE]Related articlesFree article

    25.

    Editorial: genotypic and phenotypic complexity at the insulin variable number of tandem repeats locus.

    Bougnères P.

    J Clin Endocrinol Metab. 2006 Nov;91(11):4246-9. No abstract available. PMID: 17088439 [PubMed - indexed for MEDLINE]Related articlesFree article

    26.

    Identification of distinct quantitative trait Loci affecting length or weight variability at birth in humans.

    Fradin D, Heath S, Lepercq J, Lathrop M, Bougnères P.

    J Clin Endocrinol Metab. 2006 Oct;91(10):4164-70. Epub 2006 Jul 18.PMID: 16849411 [PubMed - indexed for MEDLINE]Related articlesFree article

    27.

    Weight-adjusted genome scan analysis for mapping quantitative trait Loci for menarchal age.

    Rothenbuhler A, Fradin D, Heath S, Lefevre H, Bouvattier C, Lathrop M, Bougnères P.

    J Clin Endocrinol Metab. 2006 Sep;91(9):3534-7. Epub 2006 Jun 27.PMID: 16804047 [PubMed - indexed for MEDLINE]Related articlesFree article

    28.

    Impaired sexual activity in male adults with partial androgen insensitivity.

    Bouvattier C, Mignot B, Lefèvre H, Morel Y, Bougnères P.

    J Clin Endocrinol Metab. 2006 Sep;91(9):3310-5. Epub 2006 Jun 6.PMID: 16757528 [PubMed - indexed for MEDLINE]Related articlesFree article

    29.

    Vitamin D-resistant rickets and type 1 diabetes in a child with compound heterozygous mutations of the vitamin D receptor (L263R and R391S): dissociated responses of the CYP-24 and rel-B promoters to 1,25-dihydroxyvitamin D3.

    Nguyen M, d'Alesio A, Pascussi JM, Kumar R, Griffin MD, Dong X, Guillozo H, Rizk-Rabin M, Sinding C, Bougnères P, Jehan F, Garabédian M.

    J Bone Miner Res. 2006 Jun;21(6):886-94.PMID: 16753019 [PubMed - indexed for MEDLINE]Related articles

    30.

    Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.

    Senée V, Chelala C, Duchatelet S, Feng D, Blanc H, Cossec JC, Charon C, Nicolino M, Boileau P, Cavener DR, Bougnères P, Taha D, Julier C.

    Nat Genet. 2006 Jun;38(6):682-7. Epub 2006 May 21.PMID: 16715098 [PubMed - indexed for MEDLINE]Related articles

    31.

    'Non-Mendelian' genetics of fetal growth.

    Fradin D, Boileau P, Lepercq J, Bougnères P.

    J Endocrinol Invest. 2006;29(1 Suppl):11-5. Review.PMID: 16615301 [PubMed - indexed for MEDLINE]Related articles

    32.

    Heterogeneity of class I INS VNTR allele association with insulin secretion in obese children.

    Le Fur S, Auffray C, Letourneur F, Cruaud C, Le Stunff C, Bougnères P.

    Physiol Genomics. 2006 May 16;25(3):480-4. Epub 2006 Mar 28.PMID: 16569775 [PubMed - indexed for MEDLINE]Related articlesFree article

    33.

    Prepubertal gynecomastia in Peutz-Jeghers syndrome: incomplete penetrance in a familial case and management with an aromatase inhibitor.

    Lefevre H, Bouvattier C, Lahlou N, Adamsbaum C, Bougnères P, Carel JC.

    Eur J Endocrinol. 2006 Feb;154(2):221-7.PMID: 16452534 [PubMed - indexed for MEDLINE]Related articlesFree article

    34.

    Recurrent comas due to secret self-administration of insulin in adolescents with type 1 diabetes.

    Boileau P, Aboumrad B, Bougnères P.

    Diabetes Care. 2006 Feb;29(2):430-1. No abstract available. PMID: 16443903 [PubMed - indexed for MEDLINE]Related articlesFree article

    35.

    Secret insulin-injection syndrome among adolescents with type 1 diabetes.

    Bougnères P, Boileau P, Aboumrad B.

    N Engl J Med. 2005 Dec 8;353(23):2516-7. No abstract available. PMID: 16339105 [PubMed - indexed for MEDLINE]Related articles

    36.

    Association of Kir6.2 and INS VNTR variants with glucose homeostasis in young obese.

    Le Fur S, Fradin D, Boileau P, Bougnères P.

    Physiol Genomics. 2005 Aug 11;22(3):398-401. Epub 2005 Jun 14.PMID: 15956217 [PubMed - indexed for MEDLINE]Related articlesFree article

    37.

    [Pharmacogenomics of the growth hormone: polymorphism of the receptor in the front line]

    Bougnères P.

    Med Sci (Paris). 2004 Nov;20(11):964-5. French. No abstract available. PMID: 15525490 [PubMed - indexed for MEDLINE]Related articlesFree article

    38.

    A common polymorphism of the growth hormone receptor is associated with increased responsiveness to growth hormone.

    Dos Santos C, Essioux L, Teinturier C, Tauber M, Goffin V, Bougnères P.

    Nat Genet. 2004 Jul;36(7):720-4. Epub 2004 Jun 20.PMID: 15208626 [PubMed - indexed for MEDLINE]Related articles

    39.

    A homozygous null mutation delineates the role of the melanocortin-4 receptor in humans.

    Lubrano-Berthelier C, Le Stunff C, Bougnères P, Vaisse C.

    J Clin Endocrinol Metab. 2004 May;89(5):2028-32.PMID: 15126516 [PubMed - indexed for MEDLINE]Related articlesFree article

    40.

    Self-monitoring of blood glucose significantly improves metabolic control in patients with type 2 diabetes mellitus: the Auto-Surveillance Intervention Active (ASIA) study.

    Guerci B, Drouin P, Grangé V, Bougnères P, Fontaine P, Kerlan V, Passa P, Thivolet Ch, Vialettes B, Charbonnel B; ASIA Group.

    Diabetes Metab. 2003 Dec;29(6):587-94.PMID: 14707887 [PubMed - indexed for MEDLINE]Related articlesFree article

    41.
    42.

    INS VNTR is a QTL for the insulin response to oral glucose in obese children.

    Dos Santos C, Fallin D, Le Stunff C, LeFur S, Bougnères P.

    Physiol Genomics. 2004 Feb 13;16(3):309-13.PMID: 14657411 [PubMed - indexed for MEDLINE]Related articles

    43.

    The human MC4R promoter: characterization and role in obesity.

    Lubrano-Berthelier C, Cavazos M, Le Stunff C, Haas K, Shapiro A, Zhang S, Bougneres P, Vaisse C.

    Diabetes. 2003 Dec;52(12):2996-3000.PMID: 14633862 [PubMed - indexed for MEDLINE]Related articlesFree article

    44.

    Genetics of common obesity and type 2 diabetes: please forget diseases and study pathogenic traits.

    Bougnères P.

    Diabetes Metab. 2003 Jun;29(3):197-9. Review. No abstract available. PMID: 12909807 [PubMed - indexed for MEDLINE]Related articlesFree article

    45.

    Molecular genetics of human obesity-associated MC4R mutations.

    Lubrano-Berthelier C, Cavazos M, Dubern B, Shapiro A, Stunff CL, Zhang S, Picart F, Govaerts C, Froguel P, Bougneres P, Clement K, Vaisse C.

    Ann N Y Acad Sci. 2003 Jun;994:49-57. Review.PMID: 12851297 [PubMed - indexed for MEDLINE]Related articles

    46.

    [Severe hypoglycemia in diabetic children and adolescents: frequency and circumstances of occurrence]

    Mianowska B, Bougneres PF, Bodalski J.

    Endokrynol Diabetol Chor Przemiany Materii Wieku Rozw. 1998;4(2):99-103. Polish. PMID: 12818104 [PubMed]Related articlesFree article

    47.

    Increased insulin resistance in obese children who have both 972 IRS-1 and 1057 IRS-2 polymorphisms.

    Le Fur S, Le Stunff C, Bougnères P.

    Diabetes. 2002 Dec;51 Suppl 3:S304-7.PMID: 12475767 [PubMed - indexed for MEDLINE]Related articlesFree article

    48.

    Genetics of obesity and type 2 diabetes: tracking pathogenic traits during the predisease period.

    Bougnères P.

    Diabetes. 2002 Dec;51 Suppl 3:S295-303. Review.PMID: 12475766 [PubMed - indexed for MEDLINE]Related articlesFree article

    49.

    Detection of enterovirus RNA sequences in serum samples from autoantibody-positive subjects at risk for diabetes.

    Coutant R, Carel JC, Lebon P, Bougnères PF, Palmer P, Cantero-Aguilar L.

    Diabet Med. 2002 Nov;19(11):968-9. No abstract available. PMID: 12421438 [PubMed - indexed for MEDLINE]Related articles

    50.

    Therapy to prevent type 1 diabetes mellitus.

    Carel JC, Landais P, Bougnères P.

    N Engl J Med. 2002 Oct 3;347(14):1115-6. No abstract available. PMID: 12362017 [PubMed - indexed for MEDLINE]Related articles

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