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Tuberous Sclerosis Complex: Genetic counselling and perinatal follow-up

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2022-12, Vol.29 (5), p.5S3-5S7

2022

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Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients

Scientific reports, 2017-12, Vol.7 (1), p.16783-10, Article 16783

2017

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Homozygous PKP2 deletion associated with neonatal left ventricle noncompaction

Clinical genetics, 2017-01, Vol.91 (1), p.126-130

2017

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Is the CAG repeat of mitochondrial DNA polymerase gamma (POLG) associated with male infertility? A multi-centre French study

Human reproduction (Oxford), 2005-03, Vol.20 (3), p.736-740

2005

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OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment

Clinical genetics, 2013-07, Vol.84 (1), p.86-90

2013

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Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia

Neuromuscular disorders : NMD, 2014-11, Vol.24 (11), p.953-959

2014

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Lethal form of spinocerebellar ataxia type 7 with early onset in childhood

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2018-01, Vol.25 (1), p.42-44

2018

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Genetic variation in TGFB1 gene and risk of idiopathic recurrent pregnancy loss

Molecular human reproduction, 2013-07, Vol.19 (7), p.438-443

2013

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AP4M1 mutations in patients with epilepsy

European journal of paediatric neurology, 2017-06, Vol.21, p.e105-e105

2017

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The complex phenotype of ARC syndrome: A new case

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2017-02, Vol.24 (2), p.131-134

2017

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The bystander effect in the HSVtk/ganciclovir system and its relationship to gap junctional communication

Gene therapy, 1998-12, Vol.5 (12), p.1705-1711

1998

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Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain

American journal of human genetics, 2000-05, Vol.66 (5), p.1496-1503

2000

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Identification of specific vascular endothelial growth factor susceptible and protective haplotypes associated with recurrent spontaneous miscarriages

Human reproduction (Oxford), 2012-05, Vol.27 (5), p.1536-1541

2012

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Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease

Human mutation, 2007-08, Vol.28 (8), p.790-796

2007

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The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males

Clinical genetics, 2011-03, Vol.79 (3), p.225-235

2011

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New insight in ARX-mutated patients' language specific impairment and underlying FOXP1 dysregulation

European journal of paediatric neurology, 2017-06, Vol.21, p.e66-e66

2017

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Binder phenotype: clinical and etiological heterogeneity of the so-called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literature

Prenatal diagnosis, 2009-02, Vol.29 (2), p.140-150

2009

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A simple, low cost and non‐invasive method for screening Y‐chromosome microdeletions in infertile men

Human reproduction (Oxford), 2003-02, Vol.18 (2), p.257-261

2003

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Health-related quality of life of people with down’s syndrome: Initial results from a non-drug longitudinal multi-nationl study

Value in health, 2014-05, Vol.17 (3), p.A221-A221

2014

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TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study

Orphanet journal of rare diseases, 2018-09, Vol.13 (1), p.157-157, Article 157

2018

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Binder phenotype in mothers affected with autoimmune disorders

The journal of maternal-fetal & neonatal medicine, 2012-08, Vol.25 (8), p.1413-1418

2012

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Enhancement of the herpes simplex virus thymidine kinase/ganciclovir bystander effect and its antitumor efficacy in vivo by pharmacologic manipulation of gap junctions

Human gene therapy, 1998-11, Vol.9 (16), p.2385-2391

1998

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Chronic neuromyotonia as a phenotypic variation associated with a new mutation in the KCNA1 gene

Journal of neurology, 2006-07, Vol.253 (7), p.957-959

2006

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Étude de corrélation génotype-phénotype chez des patients avec réarrangement de la région du gène SHOX détecté par MLPA dans la population française

Annales d'endocrinologie, 2014-10, Vol.75 (5), p.298-298

2014

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Tuberous Sclerosis Complex: Genetic counselling and perinatal follow-up

Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients

Homozygous PKP2 deletion associated with neonatal left ventricle noncompaction

Is the CAG repeat of mitochondrial DNA polymerase gamma (POLG) associated with male infertility? A multi-centre French study

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment

Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia

Lethal form of spinocerebellar ataxia type 7 with early onset in childhood

Genetic variation in TGFB1 gene and risk of idiopathic recurrent pregnancy loss

AP4M1 mutations in patients with epilepsy

The complex phenotype of ARC syndrome: A new case

The bystander effect in the HSVtk/ganciclovir system and its relationship to gap junctional communication

Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain

Identification of specific vascular endothelial growth factor susceptible and protective haplotypes associated with recurrent spontaneous miscarriages

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease

The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males

New insight in ARX-mutated patients' language specific impairment and underlying FOXP1 dysregulation

Binder phenotype: clinical and etiological heterogeneity of the so-called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literature

A simple, low cost and non‐invasive method for screening Y‐chromosome microdeletions in infertile men

Health-related quality of life of people with down’s syndrome: Initial results from a non-drug longitudinal multi-nationl study

TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study

Binder phenotype in mothers affected with autoimmune disorders

Enhancement of the herpes simplex virus thymidine kinase/ganciclovir bystander effect and its antitumor efficacy in vivo by pharmacologic manipulation of gap junctions

Chronic neuromyotonia as a phenotypic variation associated with a new mutation in the KCNA1 gene

Étude de corrélation génotype-phénotype chez des patients avec réarrangement de la région du gène SHOX détecté par MLPA dans la population française

Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness

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