Khau Van Kien P - Search Results

1

Mapping of familial thoracic aortic aneurysm/dissection with patent ductus arteriosus to 16p12.2-p13.13.

Khau Van Kien P, Mathieu F, Zhu L, Lalande A, Betard C, Lathrop M, Brunotte F, Wolf JE, Jeunemaitre X. Khau Van Kien P, et al. Circulation. 2005 Jul 12;112(2):200-6. doi: 10.1161/CIRCULATIONAHA.104.506345. Epub 2005 Jul 5. Circulation. 2005. PMID: 15998682

2

Automatic determination of aortic compliance with cine-magnetic resonance imaging: an application of fuzzy logic theory.

Lalande A, Khau van Kien P, Salvé N, Ben Salem D, Legrand L, Walker PM, Wolf JE, Brunotte F. Lalande A, et al. Among authors: khau van kien p. Invest Radiol. 2002 Dec;37(12):685-91. doi: 10.1097/00004424-200212000-00008. Invest Radiol. 2002. PMID: 12447002

3

Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity.

Khau Van Kien P, Wolf JE, Mathieu F, Zhu L, Salve N, Lalande A, Bonnet C, Lesca G, Plauchu H, Dellinger A, Nivelon-Chevallier A, Brunotte F, Jeunemaitre X. Khau Van Kien P, et al. Eur J Hum Genet. 2004 Mar;12(3):173-80. doi: 10.1038/sj.ejhg.5201119. Eur J Hum Genet. 2004. PMID: 14722581

4

Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus.

Zhu L, Vranckx R, Khau Van Kien P, Lalande A, Boisset N, Mathieu F, Wegman M, Glancy L, Gasc JM, Brunotte F, Bruneval P, Wolf JE, Michel JB, Jeunemaitre X. Zhu L, et al. Among authors: khau van kien p. Nat Genet. 2006 Mar;38(3):343-9. doi: 10.1038/ng1721. Epub 2006 Jan 29. Nat Genet. 2006. PMID: 16444274

5

Compliance and pulse wave velocity assessed by MRI detect early aortic impairment in young patients with mutation of the smooth muscle myosin heavy chain.

Lalande A, Khau Van Kien P, Walker PM, Zhu L, Legrand L, Claustres M, Jeunemaître X, Brunotte F, Wolf JE. Lalande A, et al. Among authors: khau van kien p. J Magn Reson Imaging. 2008 Nov;28(5):1180-7. doi: 10.1002/jmri.21565. J Magn Reson Imaging. 2008. PMID: 18972364

6

Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.

Gimenez-Roqueplo AP, Favier J, Rustin P, Rieubland C, Crespin M, Nau V, Khau Van Kien P, Corvol P, Plouin PF, Jeunemaitre X; COMETE Network. Gimenez-Roqueplo AP, et al. Among authors: khau van kien p. Cancer Res. 2003 Sep 1;63(17):5615-21. Cancer Res. 2003. PMID: 14500403

7

[Vascular Ehlers-Danlos syndrome].

Perdu J, Boutouyrie P, Lahlou-Laforêt K, Khau Van Kien P, Denarié N, Mousseaux E, Sapoval M, Julia P, Zinzindohoué F, Touraine P, Dumez Y, Trystram D, Vignal-Clermont C, Gimenez-Roqueplo AP, Jeunemaitre X, Fiessinger JN. Perdu J, et al. Among authors: khau van kien p. Presse Med. 2006 Dec;35(12 Pt 2):1864-75. doi: 10.1016/s0755-4982(06)74919-3. Presse Med. 2006. PMID: 17159712 Review. French.

8

Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.

Attias D, Stheneur C, Roy C, Collod-Béroud G, Detaint D, Faivre L, Delrue MA, Cohen L, Francannet C, Béroud C, Claustres M, Iserin F, Khau Van Kien P, Lacombe D, Le Merrer M, Lyonnet S, Odent S, Plauchu H, Rio M, Rossi A, Sidi D, Steg PG, Ravaud P, Boileau C, Jondeau G. Attias D, et al. Among authors: khau van kien p. Circulation. 2009 Dec 22;120(25):2541-9. doi: 10.1161/CIRCULATIONAHA.109.887042. Epub 2009 Dec 7. Circulation. 2009. PMID: 19996017 Free article.

9

De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome.

Faivre L, Khau Van Kien P, Callier P, Ruiz-Pallares N, Baudoin C, Plancke A, Wolf JE, Thauvin-Robinet C, Durand E, Minot D, Dulieu V, Metaizeau JD, Leheup B, Coron F, Bidot S, Huet F, Jondeau G, Boileau C, Claustres M, Mugneret F. Faivre L, et al. Among authors: khau van kien p. Eur J Med Genet. 2010 Jul-Aug;53(4):208-12. doi: 10.1016/j.ejmg.2010.05.002. Epub 2010 May 15. Eur J Med Genet. 2010. PMID: 20478419

10

A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus.

Chesneau B, Plancke A, Rolland G, Marcheix B, Dulac Y, Edouard T, Plaisancié J, Aubert-Mucca M, Julia S, Langeois M, Lavabre-Bertrand T, Khau Van Kien P. Chesneau B, et al. Among authors: khau van kien p. Mol Genet Genomic Med. 2021 Nov;9(11):e1814. doi: 10.1002/mgg3.1814. Epub 2021 Oct 21. Mol Genet Genomic Med. 2021. PMID: 34672437 Free PMC article.

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