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Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
Nat Genet. 2003 Apr;33(4):463-5. doi: 10.1038/ng1122. Epub 2003 Mar 10.
Nat Genet. 2003.
PMID: 12627230
New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.
Dodé C, Le Dû N, Cuisset L, Letourneur F, Berthelot JM, Vaudour G, Meyrier A, Watts RA, Scott DG, Nicholls A, Granel B, Frances C, Garcier F, Edery P, Boulinguez S, Domergues JP, Delpech M, Grateau G.
Dodé C, et al. Among authors: le du n.
Am J Hum Genet. 2002 Jun;70(6):1498-506. doi: 10.1086/340786. Epub 2002 Apr 25.
Am J Hum Genet. 2002.
PMID: 11992256
Free PMC article.
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Translocation (Y;22) resulting in the loss of SHOX and isolated short stature.
Borie C, Léger J, Dupuy O, Hassan M, Ledu N, Lebbar A, Czernichow P, Eydoux P.
Borie C, et al.
Am J Med Genet A. 2004 Mar 1;125A(2):186-90. doi: 10.1002/ajmg.a.20346.
Am J Med Genet A. 2004.
PMID: 14981722
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Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome.
Bélien V, Gérard-Blanluet M, Serero S, Le Dû N, Baumann C, Jacquemont ML, Dupont C, Krabchi K, Drunat S, Elbez A, Janaud JC, Benzacken B, Verloes A, Tabet AC, Aboura A.
Bélien V, et al. Among authors: le du n.
Am J Med Genet A. 2008 Jul 15;146A(14):1871-4. doi: 10.1002/ajmg.a.32392.
Am J Med Genet A. 2008.
PMID: 18553551
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Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review.
El Khattabi L, Jaillard S, Andrieux J, Pasquier L, Perrin L, Capri Y, Benmansour A, Toutain A, Marcorelles P, Vincent-Delorme C, Journel H, Henry C, De Barace C, Devisme L, Dubourg C, Demurger F, Lucas J, Belaud-Rotureau MA, Amiel J, Malan V, De Blois MC, De Pontual L, Lebbar A, Le Dû N, Germain DP, Pinard JM, Pipiras E, Tabet AC, Aboura A, Verloes A.
El Khattabi L, et al. Among authors: le du n.
Am J Med Genet A. 2015 Jun;167(6):1252-61. doi: 10.1002/ajmg.a.36932. Epub 2015 Apr 2.
Am J Med Genet A. 2015.
PMID: 25847481
Free article.
Review.
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COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome.
Dupont C, Baumann C, Le Du N, Schaefer E, Guimiot F, Boutaud L, Capri Y, Spaggiari E, Aboura A, Benzacken B, Tabet AC.
Dupont C, et al. Among authors: le du n.
Am J Med Genet A. 2013 Oct;161A(10):2663-5. doi: 10.1002/ajmg.a.36081. Epub 2013 Aug 5.
Am J Med Genet A. 2013.
PMID: 23918474
No abstract available.
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Non-invasive cell-free DNA prenatal screening for trisomy 21 as part of primary screening strategy in twin pregnancy.
Claudel N, Barrois M, Vivanti AJ, Rosenblatt J, Salomon LJ, Jouannic JM, Picone O, Carbillon L, Vialard F, Launay E, Tsatsaris V, Curis E, El Khattabi L; APHP non‐invasive prenatal screening group.
Claudel N, et al.
Ultrasound Obstet Gynecol. 2023 Jul 20. doi: 10.1002/uog.26311. Online ahead of print.
Ultrasound Obstet Gynecol. 2023.
PMID: 37470702
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[Regional management tool and analysis of hospital prescriptions delivered in community pharmacies: A different approach to support French health institutions].
Le Du N, Arbaut JC, Dupont H, Berthou J, Fagnoni P.
Le Du N, et al.
Ann Pharm Fr. 2022 Nov;80(6):923-931. doi: 10.1016/j.pharma.2022.02.002. Epub 2022 Feb 11.
Ann Pharm Fr. 2022.
PMID: 35151624
French.
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