FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

B Parfait

Research Profile

Disorders

Chemicals & Drugs

Physiology

Anatomy

Living Beings

Concepts & Ideas

Molecular Sequence Data

Co-author Network

Publications

TOP 3
Jeanne Amiel; Nadine Gigarel; A Benacki; Paule Benit; Isabelle Valnot; B Parfait; Jürgen-Christoph von Kleist-Retzow; Valérie Raclin; Smaïl Hadj-Rabia; Yves Dumez; Pierre Rustin; Jean-Paul Bonnefont; Arnold Munnich; Agnès Rötig
Prenatal diagnosis of respiratory chain deficiency by direct mutation screening.
B Parfait; Dominique Chretien; Agnès Rötig; Cécile Marsac; Arnold Munnich; Pierre Rustin
Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.
Isabelle Valnot; J Kassis; Dominique Chretien; Pascale de Lonlay; B Parfait; Arnold Munnich; J Kachaner; Pierre Rustin; Agnès Rötig
A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of B Parfait (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2001: Jeanne Amiel; Nadine Gigarel; A Benacki; Paule Benit; Isabelle Valnot; B Parfait; Jürgen-Christoph von Kleist-Retzow; Valérie Raclin; Smaïl Hadj-Rabia; Yves Dumez; Pierre Rustin; Jean-Paul Bonnefont; Arnold Munnich; Agnès Rötig
Prenatal diagnosis of respiratory chain deficiency by direct mutation screening.
Prenatal diagnosis 2001;21(7):602-4.
2000: B Parfait; Dominique Chretien; Agnès Rötig; Cécile Marsac; Arnold Munnich; Pierre Rustin
Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.
Human genetics 2000;106(2):236-43.
1999: Isabelle Valnot; J Kassis; Dominique Chretien; Pascale de Lonlay; B Parfait; Arnold Munnich; J Kachaner; Pierre Rustin; Agnès Rötig
A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency.
Human genetics 1999;104(6):460-6.
1999: Pascale De Lonlay-Debeney; P Edery; Valérie Cormier-Daire; B Parfait; Dominique Chrétien; Agnès Rötig; N Romero; Jean-Marie Saudubray; Arnold Munnich; Pierre Rustin
Respiratory chain deficiency presenting as recurrent myoglobinuria in childhood.
Neuropediatrics 1999;30(1):42-4.
1999: B Parfait; Pascale de Lonlay; Jürgen-Christoph von Kleist-Retzow; Valérie Cormier-Daire; Dominique Chrétien; Agnès Rötig; Daniel Rabier; Jean-Marie Saudubray; Pierre Rustin; Arnold Munnich
The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia.
European journal of pediatrics 1999;158(1):55-8.
1998: Jürgen-Christoph von Kleist-Retzow; Valérie Cormier-Daire; Pascale de Lonlay; B Parfait; Dominique Chretien; Pierre Rustin; J Feingold; Agnès Rötig; Arnold Munnich
A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency.
American journal of human genetics 1998;63(2):428-35.
1998: B Parfait; Pierre Rustin; Arnold Munnich; Agnès Rötig
Co-amplification of nuclear pseudogenes and assessment of heteroplasmy of mitochondrial DNA mutations.
Biochemical and biophysical research communications 1998;247(1):57-9.
1997: B Parfait; A Percheron; Dominique Chretien; Pierre Rustin; Arnold Munnich; Agnès Rötig
No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency.
Human genetics 1997;101(2):247-50.
1997: Pierre Rustin; Dominique Chretien; B Parfait; Agnès Rötig; Arnold Munnich
Nicotinamide adenine dinucleotides permeate through mitochondrial membranes in human Epstein-Barr virus-transformed lymphocytes.
Molecular and cellular biochemistry 1997;174(1-2):115-9.
1997: Pierre Rustin; Thomas Bourgeron; B Parfait; Dominique Chretien; Arnold Munnich; Agnès Rötig
Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human.
Biochimica et biophysica acta 1997;1361(2):185-97.
1997: Vanna Geromel; B Parfait; Jürgen-Christoph von Kleist-Retzow; Dominique Chretien; Arnold Munnich; Agnès Rötig; Pierre Rustin
The consequences of a mild respiratory chain deficiency on substrate competitive oxidation in human mitochondria.
Biochemical and biophysical research communications 1997;236(3):643-6.
1997: Agnès Rötig; B Parfait; L Heidet; G Dujardin; Pierre Rustin; Arnold Munnich
Sequence and structure of the human OXA1L gene and its upstream elements.
Biochimica et biophysica acta 1997;1361(1):6-10.
1996: Pierre Rustin; B Parfait; Dominique Chretien; Thomas Bourgeron; Fatima Djouadi; Jean Bastin; Agnès Rötig; Arnold Munnich
Fluxes of nicotinamide adenine dinucleotides through mitochondrial membranes in human cultured cells.
The Journal of biological chemistry 1996;271(25):14785-90.
1996: M A Birch-Machin; C Marsac; Gérard Ponsot; B Parfait; R W Taylor; Pierre Rustin; Arnold Munnich
Biochemical investigations and immunoblot analyses of two unrelated patients with an isolated deficiency in complex II of the mitochondrial respiratory chain.
Biochemical and biophysical research communications 1996;220(1):57-62.