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David Cheillan

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Publications

TOP 3
Audrey Boutron; Michèle Brivet; David Cheillan; Catherine Costa; Angelo Facchiano; Philippe Labrune; Anna Marabotti; Christophe Oliveira; Mokhtar Zater
Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations.
François Foulquier; Hudson H Freeze; Nathalie Guffon; Jaak Jaeken; Dominique Legrand; Mustapha Amyere; Willem ANNAERT; Riet Bammens; Neil Buist; David Cheillan; Didier Demaegd; Willy Morelle; Pierre Morsomme; Valérie Race; Claire Rosnoblet; Els Schollen; Emile Van Schaftingen; Miikka Vikkula; Renate Zeevaert; Gert Matthijs
TMEM165 deficiency causes a congenital disorder of glycosylation.
François Feillet; R Garnotel; E Jeannesson; F Labarthe; H Ogier; V Valayanopoulos; A Vassault; Christine Vianey-Saban; C Aquaviva; J Baruteau; G Briand; B Chabrol; David Cheillan; P de Lonlay; D Dobbelaere
[Medium-chain acyl-CoA-dehydrogenase (MCAD) deficiency: French consensus for neonatal screening, diagnosis, and management].

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All Publications

2012: Audrey Boutron; Michèle Brivet; David Cheillan; Catherine Costa; Angelo Facchiano; Philippe Labrune; Anna Marabotti; Christophe Oliveira; Mokhtar Zater
Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations.
Molecular genetics and metabolism 2012;107(3):438-47.
2012: François Foulquier; Hudson H Freeze; Nathalie Guffon; Jaak Jaeken; Dominique Legrand; Mustapha Amyere; Willem ANNAERT; Riet Bammens; Neil Buist; David Cheillan; Didier Demaegd; Willy Morelle; Pierre Morsomme; Valérie Race; Claire Rosnoblet; Els Schollen; Emile Van Schaftingen; Miikka Vikkula; Renate Zeevaert; Gert Matthijs
TMEM165 deficiency causes a congenital disorder of glycosylation.
American journal of human genetics 2012;91(1):15-26.
2012: François Feillet; R Garnotel; E Jeannesson; F Labarthe; H Ogier; V Valayanopoulos; A Vassault; Christine Vianey-Saban; C Aquaviva; J Baruteau; G Briand; B Chabrol; David Cheillan; P de Lonlay; D Dobbelaere
[Medium-chain acyl-CoA-dehydrogenase (MCAD) deficiency: French consensus for neonatal screening, diagnosis, and management].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2012;19(2):184-93.
2012: Joffrey De Larichaudy; Marine Desgeorges; Kevin Dessalle; Andrea M Isidori; Etienne Lefai; fabio naro; Monique Piraud; Filippo Serra; Hubert Vidal; Alessandra Zufferli; David Cheillan; Georges Némoz
TNF-α- and tumor-induced skeletal muscle atrophy involves sphingolipid metabolism.
Skeletal muscle 2012;2(1):2.
2011: Monique Piraud; Séverine Ruet; Sylvie Boyer; Cécile Acquaviva; Pascale Clerc-Renaud; David Cheillan; Christine Vianey-Saban
Amino acid profiling for the diagnosis of inborn errors of metabolism.
Methods in molecular biology (Clifton, N.J.) 2011;708():25-53.
2011: Thierry Forges; Patricia Monnier; Bruno Leheup; David Cheillan; Michèle Brivet; Aurelio Barbarino; Jean-Louis Guéant; François Feillet
Ovarian tissue cryopreservation and subsequent spontaneous pregnancies in a patient with classic galactosemia.
Fertility and sterility 2011;95(1):290.e1-3.
2009: Renate Zeevaert; François Foulquier; David Cheillan; Isabelle Cloix; Nathalie Guffon; Luisella Sturiale; Domenico Garozzo; Gert Matthijs; Jaak Jaeken
A new mutation in COG7 extends the spectrum of COG subunit deficiencies.
European journal of medical genetics 2009;52(5):303-5.
2008: David Cheillan; Céline Malleval; Jérôme Ausseil; Sandrine Vitry; Jean Michel Heard; Irène Maire; Jérôme Honnorat; Marie-Françoise Belin; Monique Touret
Abnormal expression of truncated CRMP-1 protein in the brain cortex of MPSIIIB mice.
Molecular genetics and metabolism 2008;94(1):135-8.
2008: Jérôme Ausseil; Nathalie Desmaris; Stéphanie Bigou; Ruben Attali; Sébastien Corbineau; Sandrine Vitry; Mathieu Parent; David Cheillan; Maria Fuller; Irène Maire; marie T vanier; Jean Michel Heard
Early neurodegeneration progresses independently of microglial activation by heparan sulfate in the brain of mucopolysaccharidosis IIIB mice.
PloS one 2008;3(5):e2296.
2006: Laurence Lion-François; David Cheillan; G Pitelet; C Acquaviva-Bourdain; G Bussy; François Cotton; Laurent Guibaud; D Gérard; C Rivier; Christine Vianey-Saban; Cornelis Jakobs; Gajja S Salomons; Vincent des Portes
High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.
Neurology 2006;67(9):1713-4.
2006: David Cheillan; Gajja S Salomons; Cécile Acquaviva; Catherine Boisson; Philippe Roth; Marie-Pierre Cordier; Laurence François; Cornelis Jakobs; Christine Vianey-Saban
Prenatal diagnosis of guanidinoacetate methyltransferase deficiency: increased guanidinoacetate concentrations in amniotic fluid.
Clinical chemistry 2006;52(4):775-7.
2006: C Conter; Marie-Odile Rolland; David Cheillan; V Bonnet; Irène Maire; Roseline Froissart
Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy.
Journal of inherited metabolic disease 2006;29(1):135-42.
2005: Roseline Froissart; David Cheillan; R Bouvier; S Tourret; V Bonnet; Monique Piraud; Irène Maire
Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero.
Journal of medical genetics 2005;42(11):829-36.
2005: Nathalie Guffon; Manuel Schiff; David Cheillan; Bendicht Wermuth; Johannes Häberle; Christine Vianey-Saban
Neonatal hyperammonemia: the N-carbamoyl-L-glutamic acid test.
The Journal of pediatrics 2005;147(2):260-2.
2005: David Cheillan; Sébastien Cognat; N Vandenberghe; Vincent des Portes; Christine Vianey-Saban
[Creatine deficiency syndromes].
Revue neurologique 2005;161(3):284-9.
2005: David Cheillan; M Vercherat; Françoise Chevalier-Porst; M Charcosset; Marie-Odile Rolland; Claude Dorche
False-positive results in neonatal screening for cystic fibrosis based on a three-stage protocol (IRT/DNA/IRT): Should we adjust IRT cut-off to ethnic origin?
Journal of inherited metabolic disease 2005;28(6):813-8.
2004: Carla Z Minutti; Jean M Lacey; Mark J Magera; Si Houn Hahn; Mark McCann; Andreas Schulze; David Cheillan; Claude Dorche; Donald H Chace; James F Lymp; Donald Zimmerman; Piero Rinaldo; Dietrich Matern
Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia.
The Journal of clinical endocrinology and metabolism 2004;89(8):3687-93.
2004: Sébastien Cognat; David Cheillan; Monique Piraud; Birthe Roos; Cornelis Jakobs; Christine Vianey-Saban
Determination of guanidinoacetate and creatine in urine and plasma by liquid chromatography-tandem mass spectrometry.
Clinical chemistry 2004;50(8):1459-61.
2004: David Cheillan; Sébastien Cognat; Christine Vianey-Saban; Irène Maire; Claude Dorche
[Application of tandem mass spectrometry to neonatal screening of inherited metabolic diseases: focus on present developments].
Annales de biologie clinique 2004;62(3):269-77.
2004: David Cheillan; Sébastien Cognat; Claude Dorche; J Jaeken; Christine Vianey-Saban; Nathalie Guffon
CDG IIx with unusual phenotype.
Journal of inherited metabolic disease 2004;27(1):103-4.