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Page 1
Growth patterns of patients with Noonan syndrome: correlation with age and genotype.
Cessans C, Ehlinger V, Arnaud C, Yart A, Capri Y, Barat P, Cammas B, Lacombe D, Coutant R, David A, Baron S, Weill J, Leheup B, Nicolino M, Salles JP, Verloes A, Tauber M, Cavé H, Edouard T. Cessans C, et al. Among authors: cave h. Eur J Endocrinol. 2016 May;174(5):641-50. doi: 10.1530/EJE-15-0922. Epub 2016 Feb 22. Eur J Endocrinol. 2016. PMID: 26903553
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.
Keren B, Hadchouel A, Saba S, Sznajer Y, Bonneau D, Leheup B, Boute O, Gaillard D, Lacombe D, Layet V, Marlin S, Mortier G, Toutain A, Beylot C, Baumann C, Verloes A, Cavé H; French Collaborative Noonan Study Group. Keren B, et al. Among authors: cave h. J Med Genet. 2004 Nov;41(11):e117. doi: 10.1136/jmg.2004.021451. J Med Genet. 2004. PMID: 15520399 Free PMC article. No abstract available.
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
Kerr B, Delrue MA, Sigaudy S, Perveen R, Marche M, Burgelin I, Stef M, Tang B, Eden OB, O'Sullivan J, De Sandre-Giovannoli A, Reardon W, Brewer C, Bennett C, Quarell O, M'Cann E, Donnai D, Stewart F, Hennekam R, Cavé H, Verloes A, Philip N, Lacombe D, Levy N, Arveiler B, Black G. Kerr B, et al. Among authors: cave h. J Med Genet. 2006 May;43(5):401-5. doi: 10.1136/jmg.2005.040352. Epub 2006 Jan 27. J Med Genet. 2006. PMID: 16443854 Free PMC article.
[RAS signalling pathway and its syndromes].
Verloes A, Cavé H. Verloes A, et al. Among authors: cave h. Arch Pediatr. 2007 Jun;14(6):586-9. doi: 10.1016/j.arcped.2007.02.022. Epub 2007 Apr 5. Arch Pediatr. 2007. PMID: 17418545 French. No abstract available.
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
Nava C, Hanna N, Michot C, Pereira S, Pouvreau N, Niihori T, Aoki Y, Matsubara Y, Arveiler B, Lacombe D, Pasmant E, Parfait B, Baumann C, Héron D, Sigaudy S, Toutain A, Rio M, Goldenberg A, Leheup B, Verloes A, Cavé H. Nava C, et al. Among authors: cave h. J Med Genet. 2007 Dec;44(12):763-71. doi: 10.1136/jmg.2007.050450. Epub 2007 Aug 17. J Med Genet. 2007. PMID: 17704260 Free PMC article.
[From Noonan syndrome to juvenile myelomonocytic leukemia].
Cavé H, Lachenaud J, Perez B, Verloes A, Chomienne C, Cassinat B. Cavé H, et al. Arch Pediatr. 2008 Jun;15(5):812-3. doi: 10.1016/S0929-693X(08)71922-5. Arch Pediatr. 2008. PMID: 18582761 French. No abstract available.
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.
Narumi Y, Aoki Y, Niihori T, Sakurai M, Cavé H, Verloes A, Nishio K, Ohashi H, Kurosawa K, Okamoto N, Kawame H, Mizuno S, Kondoh T, Addor MC, Coeslier-Dieux A, Vincent-Delorme C, Tabayashi K, Aoki M, Kobayashi T, Guliyeva A, Kure S, Matsubara Y. Narumi Y, et al. Among authors: cave h. J Hum Genet. 2008;53(9):834-841. doi: 10.1007/s10038-008-0320-0. Epub 2008 Jul 24. J Hum Genet. 2008. PMID: 18651097
Polyvalvular heart disease with joint hypermobility, characteristic facies, and particular skin abnormalities: new cases of "polyvalvular heart disease syndrome" or new association?
Edouard T, Prost-Squarcioni C, Dulac Y, Vaysse F, Cavé H, Saugier-Veber P, Bourrouillou G, Verloes A, Tauber M, Bieth E. Edouard T, et al. Among authors: cave h. Eur J Med Genet. 2010 Jan-Feb;53(1):29-34. doi: 10.1016/j.ejmg.2009.11.002. Epub 2009 Nov 20. Eur J Med Genet. 2010. PMID: 19932204
278 results