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authIdHal_s : philippe-khau-van-kien
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Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.

Laurence Faivre , Gwenaëlle Collod-Beroud , Bert L. Callewaert , Anne H. Child , Christine Binquet et al.
European Journal of Human Genetics, 2009, 17 (4), pp.491-501. ⟨10.1038/ejhg.2008.207⟩
Article dans une revue inserm-00343925v2

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

Limin Zhu , Roger Vranckx , Philippe Khau van Kien , Alain Lalande , Nicolas Boisset et al.
Nature Genetics, 2006, 38, pp.343-349. ⟨10.1038/ng1721⟩
Article dans une revue hal-00022553v1

Compliance and Pulse Wave Velocity Assessed by MRI Detect Early Aortic Impairment in Young Patients With Mutation of the Smooth Muscle Myosin Heavy Chain

Alain Lalande , Philippe Khau van Kien , Paul Walker , L. Zhu , Louis Legrand et al.
Journal of Magnetic Resonance Imaging, 2008, 28 (5), pp.1180-1187. ⟨10.1002/jmri.21565⟩
Article dans une revue istex hal-00787375v1
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Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

P. Callier , B. Aral , N. Hanna , S. Lambert , H. Dindy et al.
Clinical Genetics, 2013, 84 (6), pp.507--521. ⟨10.1111/cge.12094⟩
Article dans une revue hal-01068032v1

Should aortic stiffness be evaluated in thoracic aortic aneurysm/dissection relatives to prevent risks?

Alain Lalande , Philippe Khau van Kien , Eric Steinmetz , David Vandroux , Olivier Bouchot et al.
78th Annual Scientific Session of the American-Heart-Association, Nov 2005, Dallas, United States. pp.U623-U623
Communication dans un congrès hal-00788188v1

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

Philippe Khau van Kien , Jean-Eric Wolf , Flavie Mathieu , Limin Zhu , Nicolas Salve et al.
European Journal of Human Genetics, 2004, 12 (3), pp.173-180. ⟨10.1038/sj.ejhg.5201119⟩
Article dans une revue hal-00839573v1

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.

Paul Kuentz , Judith Saint-Onge , Yannis Duffourd , Jean-Benoît Courcet , Virginie Carmignac et al.
Genetics in Medicine, 2017, 19 (9), pp.989-997. ⟨10.1038/gim.2016.220⟩
Article dans une revue hal-01560452v1

NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients

Michele Bertacchi , Anna Lisa Romano , Agnès Loubat , Frederic Tran Mau-Them , Marjolaine Willems et al.
EMBO Journal, 2020, 39 (13), pp.e104163. ⟨10.15252/embj.2019104163⟩
Article dans une revue hal-02890188v1

Automatic determination of aortic compliance with cine-magnetic resonance imaging - An application of fuzzy logic theory

Alain Lalande , Philippe Khau van Kien , Nicolas Salve , Douraied Ben Salem , Louis Legrand et al.
Investigative Radiology, 2002, 37 (12), pp.685-691. ⟨10.1097/01.RLI.0000035236.69975.2A⟩
Article dans une revue hal-00789115v1
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Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations

Anne-Sophie Jourdain , Florence Petit , Marie-Françoise Odou , Malika Balduyck , Perrine Brunelle et al.
Human Mutation, 2020, 41 (1), pp.222-239. ⟨10.1002/humu.23912⟩
Article dans une revue hal-02393697v1