Publications by authors named "Pierre S Jouk"

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Prenatal Diagnosis of Aorto-Left Ventricular Tunnel With Dysplastic Bicuspid Aortic Valve: From Fetal Cardiac Failure to Favorable Outcome.
Ba Luu Truong, Anne Moreau De Bellaing, Emmanuelle Vialle, Ayman Haydar, Pascal Vouhe, Pierre Simon Jouk

Front Pediatr· February 2020

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Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis.
Emanuela Abiusi, Manuela D'Alessandro, Klaus Dieterich, Loic Quevarec, Sandrina Turczynski, Pierre Simon Jouk

Hum Mol Genet· October 2017

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Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions.
Marie-Laure Mathieu, Caroline Demily, Sandra Chantot-Bastaraud, Alexandra Afenjar, Cyril Mignot, Pierre Simon Jouk

Am J Med Genet A· August 2017

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Fetal hypothyroidism induced by maternal anti-TSH receptor blocking antibodies and complicated by polyhydramnios despite the absence of goiter. Treatment by intra-amniotic injections of levothyroxine.
Adèle Menut-Ruel, Marie Barthod, Anne-Sophie Gauchez, Clémentine Dupuis, Anne Charrie, Pierre Simon Jouk

Ann Endocrinol (Paris)· February 2017

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Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.
Julien Thevenon, Nicole Monnier, Patrick Callier, Klaus Dieterich, Michel Francoise, Pierre Simon Jouk

Am J Med Genet A· December 2014

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Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Annie Laquérriere, Jérome Maluenda, Adrien Camus, Laura Fontenas, Klaus Dieterich, Pierre S Jouk

Hum Mol Genet· May 2014

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Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.
Gilles Millat, Patrice Bouvagnet, Philippe Chevalier, Claire Dauphin, Pierre Simon Jouk

Eur J Med Genet· January 2011

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Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy.
Nicole Monnier, Joel Lunardi, Isabelle Marty, Paulette Mezin, Annick Labarre-Vila, Pierre Simon Jouk

Neuromuscul Disord· February 2009

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Quality control of an image-scoring method for nuchal translucency ultrasonography.
Nicolas Fries, Marc Althuser, Marianne Fontanges, Claude Talmant, Pierre S Jouk

Am J Obstet Gynecol· March 2007

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Carbimazole-related gastroschisis.
Anne-Maëlle Guignon, Michel P Mallaret, Pierre Simon Jouk

Ann Pharmacother· June 2003

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