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Xeroderma pigmentosum in South Africa: Evidence for a prevalent founder effect

British journal of dermatology (1951), 2019-11, Vol.181 (5), p.1070-1072

2019

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Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients

Human molecular genetics, 2014-09, Vol.23 (17), p.4479-4490

2014

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The role of large bubbles detected from acoustic measurements on the dynamics of Erta 'Ale lava lake (Ethiopia)

Earth and planetary science letters, 2010-06, Vol.295 (1-2), p.37-48

2010

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Skin cancers in patients of skin phototype V or VI with xeroderma pigmentosum type C (XP-C): A retrospective study

Annales de dermatologie et de vénéréologie, 2019-03, Vol.146 (3), p.192-203

2019

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SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype

Journal of medical genetics, 2009-07, Vol.46 (7), p.425-430

2009

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Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome

Journal of medical genetics, 2004-01, Vol.41 (1), p.14-17

2004

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Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients

Revue neurologique, 2013-08, Vol.169 (8-9), p.603-612

2013

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Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France

Annals of the rheumatic diseases, 2011-03, Vol.70 (3), p.495-499

2011

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Maxillo-Nasal Dysplasia (Binder Syndrome): Antenatal Discovery and Implications

Fetal diagnosis and therapy, 2005-07, Vol.20 (4), p.301-305

2005

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Étude de la prévalence des cancers cutanés dans une cohorte rétrospective de patients atteints de xeroderma pigmentosum (XP) phototype V et VI

Annales de dermatologie et de vénéréologie, 2018-12, Vol.145 (12), p.S253-S253

2018

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Transvaginal sonographic diagnosis of iniencephaly apertus and craniorachischisis at 9 weeks' gestation

Ultrasound in obstetrics & gynecology, 2003-12, Vol.22 (6), p.657-658

2003

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Antenatal Presentation of Isolated Femoral Hypoplasia Discovered at 18 Weeks of Gestation

Fetal diagnosis and therapy, 2005-05, Vol.20 (3), p.197-202

2005

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Spectrum of CFTR Mutations on Réunion Island: Impact on Neonatal Screening

Human biology, 2005-10, Vol.77 (5), p.705-714

2005

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mtDNA polymorphisms in five French groups: importance of regional sampling

European journal of human genetics : EJHG, 2004-04, Vol.12 (4), p.293-300

2004

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Alport syndrome in Réunion Island: phenotypic heterogeneity of the recessive-autosomal form

Nephron (2015), 1998, Vol.79 (2), p.237-237

1998

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À propos de six observations de double discordance cardiaque : faisabilité du diagnostic anténatal ?

Journal de gynécologie, obstétrique et biologie de la reproduction, 2013-04, Vol.42 (2), p.143-150

2013

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Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men

Human reproduction (Oxford), 2001-01, Vol.16 (1), p.82-90

2001

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About six observations of double discrepancy of the heart: feasibility of prenatal diagnosis?

Journal de gynecologie, obstetrique et biologie de la reproduction, 2013-04, Vol.42 (2), p.143

2013

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Detection of more than 91% cystic fibrosis mutations in a sample of the population from Reunion Island and identification of two novel mutations (A309G, S1255L) and one novel polymorphism (L49L)

Clinical genetics, 1998-11, Vol.54 (5), p.437-439

1998

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Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: Relationship to SFTPB

American journal of medical genetics, 2003-06, Vol.119A (3), p.324-339

2003

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Maladie de Charcot-Marie-Tooth associée au gène de la périaxine (CMT4F) : description clinique, électrophysiologique et génétique de 24 patients

Revue neurologique, 2013-08, Vol.169 (8-9), p.603-612

2013

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SPRED 1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype

Journal of medical genetics, 2009, Vol.46 (7), p.425-430

2009

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Maladie de Charcot-Marie-Tooth associée au gène de la périaxine (CMT4F): description clinique, électrophysiologique et génétique de 24 patients: Affections musculaires

Revue neurologique, 2013, Vol.169 (8-9), p.603-612

2013

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Xeroderma pigmentosum in South Africa: Evidence for a prevalent founder effect

Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients

The role of large bubbles detected from acoustic measurements on the dynamics of Erta 'Ale lava lake (Ethiopia)

Skin cancers in patients of skin phototype V or VI with xeroderma pigmentosum type C (XP-C): A retrospective study

SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype

Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome

Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients

Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France

Maxillo-Nasal Dysplasia (Binder Syndrome): Antenatal Discovery and Implications

Étude de la prévalence des cancers cutanés dans une cohorte rétrospective de patients atteints de xeroderma pigmentosum (XP) phototype V et VI

Transvaginal sonographic diagnosis of iniencephaly apertus and craniorachischisis at 9 weeks' gestation

A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes

Antenatal Presentation of Isolated Femoral Hypoplasia Discovered at 18 Weeks of Gestation

Spectrum of CFTR Mutations on Réunion Island: Impact on Neonatal Screening

mtDNA polymorphisms in five French groups: importance of regional sampling

Alport syndrome in Réunion Island: phenotypic heterogeneity of the recessive-autosomal form

À propos de six observations de double discordance cardiaque : faisabilité du diagnostic anténatal ?

Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men

About six observations of double discrepancy of the heart: feasibility of prenatal diagnosis?

A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes: Prenatal diagnosis of the 22q11.2 deletion of 272 fetuses

Detection of more than 91% cystic fibrosis mutations in a sample of the population from Reunion Island and identification of two novel mutations (A309G, S1255L) and one novel polymorphism (L49L)

Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: Relationship to SFTPB

Maladie de Charcot-Marie-Tooth associée au gène de la périaxine (CMT4F) : description clinique, électrophysiologique et génétique de 24 patients

SPRED 1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype

Maladie de Charcot-Marie-Tooth associée au gène de la périaxine (CMT4F): description clinique, électrophysiologique et génétique de 24 patients: Affections musculaires

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