Lista de obras - François Petit - Dominio Público Uruguay

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

artículo científico publicado en 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

artículo científico publicado en 2008

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

artículo científico publicado en 2004

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

artículo científico publicado en 2004

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

artículo científico publicado en 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.

artículo científico publicado en 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?

artículo científico publicado en 2005

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

artículo científico publicado en 2006

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

Exercise efficiency impairment in metabolic myopathies

artículo científico publicado en 2020

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

Fat and carbohydrate metabolism during exercise in phosphoglucomutase type 1 deficiency

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2011

Glucose-6-phosphatase deficiency

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2006

Identification of sperm head proteins involved in zona pellucida binding

artículo científico publicado en 2013

Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

Moonlighting proteins in sperm-egg interactions

artículo científico publicado en 2014

Multiple phenotypes in phosphoglucomutase 1 deficiency

artículo científico publicado en 2014

Muscle glycogenosis due to phosphoglucomutase 1 deficiency

article

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2005

Physiological partial aldosterone resistance in human newborns

artículo científico publicado en 2009

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

artículo científico publicado en 2010

Stability of procalcitonin at room temperature.

artículo científico publicado en 2014

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

artículo científico publicado en 2006

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

artículo científico publicado en 2011

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

artículo científico publicado en 2008

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

artículo científico publicado en 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]

artículo científico publicado en 2008

Lista de obras de 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

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

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

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

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

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

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

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

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

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

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

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

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

Exercise efficiency impairment in metabolic myopathies

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

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

Fat and carbohydrate metabolism during exercise in phosphoglucomutase type 1 deficiency

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

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

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

Glucose-6-phosphatase deficiency

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

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

Identification of sperm head proteins involved in zona pellucida binding

Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency

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

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

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

Moonlighting proteins in sperm-egg interactions

Multiple phenotypes in phosphoglucomutase 1 deficiency

Muscle glycogenosis due to phosphoglucomutase 1 deficiency

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

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

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

Physiological partial aldosterone resistance in human newborns

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

Stability of procalcitonin at room temperature.

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

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

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

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

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

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

[Natural history of hepatic glycogen storage diseases]