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List of works by François Petit

15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia.

scientific article published on 13 March 2018

A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndrome

scientific article

Allelic heterogeneity of Crigler-Najjar type I syndrome: a study of 24 cases

scientific article published on 01 December 2004

Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases.

scientific article published in January 2004

Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases

scientific article published on 12 November 2014

Comments on seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia by D'Apolito et al

scientific article published on 01 July 2007

Complex translocation t(1;12;14)(q42;q14;q32) and HMGA2 deletion in a fetus presenting growth delay and bilateral cataracts.

scientific article published on 16 September 2015

Confined blood chimerism in a monochorionic dizygotic sex discordant twin pregnancy conceived after induced ovulation

article by Anne Mayeur Le Bras et al published 2 March 2016 in Birth Defects Research Part A: Clinical and Molecular Teratology

Could Sperm Aneuploidy Rate Determination Be Used as a Predictive Test Before Intracytoplasmic Sperm Injection?

scientific article published on 01 March 2005

Crigler-Najjar type II syndrome may result from several types and combinations of mutations in the UGT1A1 gene.

scientific article

Cross-sectional retrospective study of muscle function in patients with glycogen storage disease type III.

scientific article published on 28 June 2016

Diagnostic power of the non-ischaemic forearm exercise test in detecting glycogenosis type V.

scientific article

Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease

scientific article

Exercise efficiency impairment in metabolic myopathies

scientific article published on 29 May 2020

Exercise intolerance in Glycogen Storage Disease Type III: Weakness or energy deficiency?

scientific article published in May 2013

Exercise-induced muscle pain due to phosphofrutokinase deficiency: Diagnostic contribution of metabolic explorations (exercise tests, 31P-nuclear magnetic resonance spectroscopy)

scientific article

Fat and carbohydrate metabolism during exercise in phosphoglucomutase type 1 deficiency

scientific article published on 18 June 2013

First prenatal case of proximal 19p13.12 microdeletion syndrome: New insights and new delineation of the syndrome

scientific article published on 20 January 2018

Further evidence that the UGT1A1*28 allele is not associated with coronary heart disease: The ECTIM Study

scientific article published on 01 December 2006

Genotype-phenotype correlation in 13q13.3-q21.3 deletion

scientific article published on 21 June 2011

Glucose-6-phosphatase deficiency

scientific article

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.

scientific article published on 22 April 2016

Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene

scientific article published on 21 February 2006

Identification of sperm head proteins involved in zona pellucida binding

scientific article

Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency

scientific article published on 23 February 2012

Klüver Bucy syndrome following hypoglycaemic coma in a patient with glycogen storage disease type Ib.

scientific article

Large deletion in UGT1A1 gene encompassing the promoter and the exon 1 responsible for Crigler-Najjar type I syndrome

scientific article published on 12 August 2008

Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.

scientific article

Moonlighting proteins in sperm-egg interactions

scientific article

Multiple phenotypes in phosphoglucomutase 1 deficiency

scientific article

Muscle glycogenosis due to phosphoglucomutase 1 deficiency

article

Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study

scientific article published on 28 December 2012

PNPLA2 mutation: a paediatric case with early onset but indolent course

scientific article published on 30 August 2013

Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.

scientific article published in March 2005

Physiological partial aldosterone resistance in human newborns

scientific article

Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism

scientific article

Stability of procalcitonin at room temperature.

scientific article published on January 2014

Successful pregnancy in a Crigler-Najjar type I patient treated by phototherapy and semimonthly albumin infusions

scientific article published on 01 September 2006

Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D,L-3-hydroxybutyrate, ketogenic and high-protein diet

scientific article published in December 2011

The Tunisian population history through the Crigler-Najjar type I syndrome

scientific article published on 16 January 2008

The ratio of maximal handgrip force and maximal cycloergometry power as a diagnostic tool to screen for metabolic myopathies

scientific article published on 01 June 2020

[Construction and validation of an evaluation tool of sexual health using self-administered questionnaires for an application to metabolic diseases]

scientific article published on 26 November 2012

[Molecules involved in sperm-zona pellucida interaction in mammals. Role in human fertility]

scientific article published on 13 June 2008

[Natural history of hepatic glycogen storage diseases]

scientific article published on 29 February 2008

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