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mtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal development

Clinical genetics, 2015-11, Vol.88 (5), p.416-424

2015

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Long-Term Follow-Up of Bezafibrate Treatment in Patients With the Myopathic Form of Carnitine Palmitoyltransferase 2 Deficiency

Clinical pharmacology and therapeutics, 2010-07, Vol.88 (1), p.101-108

2010

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Unique subungueal keratoacanthoma revealing incontinentia pigmenti

Journal of the European Academy of Dermatology and Venereology, 2016-08, Vol.30 (8), p.1401-1403

2016

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Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis

Journal of medical genetics, 2006-03, Vol.43 (3), p.244-247

2006

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Bilateral amastia in a female with X-linked hypohidrotic ectodermal dysplasia

British journal of dermatology (1951), 2014-09, Vol.171 (3), p.671-673

2014

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Keratotic follicular plugs with calcifications in Conradi-Hünermann-Happle syndrome: histological, biochemical and genetic testing correlation

British journal of dermatology (1951), 2015-11, Vol.173 (5), p.1316-1318

2015

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Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre

BJOG : an international journal of obstetrics and gynaecology, 2019-10, Vol.126 (11), p.1372-1379

2019

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Multiple displacement amplification improves PGD for fragile X syndrome

Molecular human reproduction, 2006-10, Vol.12 (10), p.647-652

2006

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A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

Journal of medical genetics, 2011-01, Vol.48 (1), p.16-23

2011

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Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH

Clinical genetics, 2013-07, Vol.84 (1), p.31-36

2013

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A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome

Clinical genetics, 2016-05, Vol.89 (5), p.584-589

2016

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Stability of the m.8993T→G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome

Journal of medical genetics, 2007-10, Vol.44 (10), p.664-669

2007

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Recognition and management of fatty acid oxidation defects : A series of 107 patients

Journal of inherited metabolic disease, 1999-06, Vol.22 (4), p.488-502

1999

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Post-mortem MRI reveals CPT2 deficiency after sudden infant death

European journal of pediatrics, 2010-12, Vol.169 (12), p.1561-1563

2010

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Prenatal diagnosis and normal outcome of a 46,XX/46,XY chimera: A Case Report

Human reproduction (Oxford), 2007-04, Vol.22 (4), p.1037-1041

2007

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Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development

Journal of medical genetics, 2006-10, Vol.43 (10), p.788-792

2006

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Clinical presentation of mitochondrial disorders in childhood

Journal of inherited metabolic disease, 1996-01, Vol.19 (4), p.521-527

1996

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Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy

The Journal of clinical investigation, 1997-08, Vol.100 (4), p.802-807

1997

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Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells

The Lancet (British edition), 2003-03, Vol.361 (9362), p.1013-1014

2003

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MECP2 mutation in non-fatal, non-progressive encephalopathy in a male

Journal of medical genetics, 2001-03, Vol.38 (3), p.171-174

2001

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Pearson's marrow-pancreas syndrome : a multisystem mitochondrial disorder in infancy

The Journal of clinical investigation, 1990-11, Vol.86 (5), p.1601-1608

1990

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A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome

Biochimica et biophysica acta, 2012-06, Vol.1822 (6), p.1062-1069

2012

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Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis

Molecular genetics and metabolism, 2015-03, Vol.2 (C), p.25-31

2015

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Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression

American journal of human genetics, 1996-05, Vol.58 (5), p.971-978

1996

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Potential of fibrates in the treatment of fatty acid oxidation disorders: Revival of classical drugs?

Journal of inherited metabolic disease, 2006-04, Vol.29 (2-3), p.341-342

2006

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mtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal development

Long-Term Follow-Up of Bezafibrate Treatment in Patients With the Myopathic Form of Carnitine Palmitoyltransferase 2 Deficiency

Unique subungueal keratoacanthoma revealing incontinentia pigmenti

Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis

Bilateral amastia in a female with X-linked hypohidrotic ectodermal dysplasia

Keratotic follicular plugs with calcifications in Conradi-Hünermann-Happle syndrome: histological, biochemical and genetic testing correlation

Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre

Multiple displacement amplification improves PGD for fragile X syndrome

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome

Stability of the m.8993T→G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome

Recognition and management of fatty acid oxidation defects : A series of 107 patients

Post-mortem MRI reveals CPT2 deficiency after sudden infant death

Prenatal diagnosis and normal outcome of a 46,XX/46,XY chimera: A Case Report

Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development

Clinical presentation of mitochondrial disorders in childhood

Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy

Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells

MECP2 mutation in non-fatal, non-progressive encephalopathy in a male

Pearson's marrow-pancreas syndrome : a multisystem mitochondrial disorder in infancy

A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome

Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis

Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression

Potential of fibrates in the treatment of fatty acid oxidation disorders: Revival of classical drugs?

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