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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.
Article dans une revue
inserm-00343925v2
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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.
Article dans une revue
hal-00022553v1
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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.
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.
Article dans une revue
hal-01068032v1
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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
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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.
Article dans une revue
hal-00839573v1
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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.
Article dans une revue
hal-01560452v1
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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.
Article dans une revue
hal-02890188v1
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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.
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.
Article dans une revue
hal-02393697v1
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