A. Beaufrère

发表

Time‐course changes of muscle protein synthesis associated with obesity‐induced lipotoxicity

S. Walrand, Y. Boirie, D. Courteix, 2012, The Journal of physiology.

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.

L. Servais, I. Nelson, N. Romero, 2016, American journal of human genetics.

Effect of intermittent glutamine supplementation on skeletal muscle is not long-lasting in very old rats

A. Beaufrère, M. Mignon, D. Meynial-Denis, 2013, The journal of nutrition, health & aging.

X-linked myopathy with excessive autophagy: a clinicopathological study of five new families

D. Figarella-Branger, J. Pouget, A. Beaufrère, 2001, Neuromuscular Disorders.

Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.

E. Denamur, A. Laquérriere, H. Le Nagard, 2010, Kidney international.

First‐trimester features of Fowler syndrome (hydrocephaly–hydranencephaly proliferative vasculopathy)

A. Beaufrère, P. Dechelotte, H. Laurichesse-Delmas, 2002, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Glutamate and CO2 production from glutamine in incubated enterocytes of adult and very old rats.

J. Renou, A. Beaufrère, M. Mignon, 2013, The Journal of nutritional biochemistry.

Immune-mediated myopathy related to anti 3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies as an emerging cause of necrotizing myopathy induced by statins.

A. Beaufrère, L. Drouot, O. Boyer, 2014, Joint, bone, spine : revue du rhumatisme.

Does long-term intermittent treatment with glutamine improve the well-being of fed and fasted very old rats?

L. Combaret, A. Beaufrère, M. Mignon, 2007, JPEN. Journal of parenteral and enteral nutrition.

Larsen‐like phenotype associated with partial trisomy 3p and monosomy 5p

A. Beaufrère, A. Tchirkov, P. Vago, 2008, Prenatal diagnosis.

Congenital adrenal hypoplasia due to isolated familial ACTH deficiency.

A. Beaufrère, A. Labbé, C. Darcha, 1994, Pediatric pathology.

[Prenatal diagnosis of cerebral tumors and differential diagnosis].

A. Beaufrère, D. Gallot, P. Dechelotte, 2013, Journal de gynecologie, obstetrique et biologie de la reproduction.

Prenatal diagnosis of thrombosis of the dural sinuses: report of six cases, review of the literature and suggested management

N. Winer, A. Beaufrère, F. Vendittelli, 2008, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Recurrent congenital pulmonary lymphangiectasia

A. Beaufrère, A. Delabaere, D. Gallot, 2008, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Late onset of ultrasound abnormalities in a case of periconceptional congenital cytomegalovirus infection

A. Beaufrère, A. Delabaere, D. Gallot, 2008 .

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.

Colin A. Johnson, A. Munnich, E. Génin, 2007, American journal of human genetics.

Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases

N. Drouot, C. Fallet-Bianco, P. Gressens, 2013, Acta Neuropathologica.

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

R. Touraine, J. Mandel, J. Thevenon, 2020, Journal of Medical Genetics.

Prenatal ultrasound findings observed in the Wolf-Hirschhorn syndrome: data from the registry of congenital malformations in Auvergne.

A. Beaufrère, C. Francannet, D. Gallot, 2013, Birth defects research. Part A, Clinical and molecular teratology.

[Pancreatic involvement in Wegener's granulomatosis: a rare and difficult diagnosis].

A. Beaufrère, O. Aumaître, I. Delèvaux, 2006, La Revue de medecine interne.

Prenatal detection of mosaic isochromosome 20q: a fourth report with abnormal phenotype

A. Beaufrère, C. Francannet, P. Dechelotte, 2005, Prenatal diagnosis.

Long-term intermittent glutamine supplementation repairs intestinal damage (structure and functional mass) with advanced age: assessment with plasma citrulline in a rodent model.

C. Buffière, A. Beaufrère, G. Marceau, 2014, The journal of nutrition, health & aging.

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

I. Gut, M. Bayés, J. Melki, 2014, Human molecular genetics.

[Recurrence of multiple chorio-angiomas: a case-report].

A. Beaufrère, V. Sapin, D. Gallot, 2003, Gynécologie Obstétrique & Fertilité.

Impact of prenatal diagnosis on the outcome of patients with a transposition of great arteries: A 24-year population-based study.

L. Ouchchane, J. Lusson, A. Beaufrère, 2016, Birth defects research. Part A, Clinical and molecular teratology.

Long-term intermittent glutamine supplementation repairs intestinal damage (structure and functional mass) with advanced age: Assessment with plasma citrulline in a rodent model

C. Buffière, A. Beaufrère, G. Marceau, 2014, The journal of nutrition, health & aging.

Fetal umbilical cord ligation under ultrasound guidance

A. Beaufrère, D. Lémery, P. Vanlieféringhen, 1994, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[Sudden unexpected death in an infant due to a ruptured coronary aneurysm revealing Kawasaki disease].

A. Beaufrère, F. Brunet, P. Dechelotte, 2002, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Prenatal Screening of 21 Microdeletion/Microduplication Syndromes and Subtelomeric Imbalances by MLPA in Fetuses with Increased Nuchal Translucency and Normal Karyotype

A. Beaufrère, H. Laurichesse-Delmas, A. Tchirkov, 2015, Cytogenetic and Genome Research.

Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis

J. Thevenon, L. Faivre, C. Thauvin-Robinet, 2018, American journal of medical genetics. Part A.

Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.

E. Denamur, A. Laquérriere, M. Gonzalès, 2010, Kidney international.

Time‐course changes of muscle protein synthesis associated with obesity‐induced lipotoxicity

S. Walrand, Y. Boirie, D. Courteix, 2012, The Journal of physiology.