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Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia

Human genetics, 2019-09, Vol.138 (8-9), p.799-830

2019

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FOXE3 mutations: genotype‐phenotype correlations

Clinical genetics, 2018-04, Vol.93 (4), p.837-845

2018

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Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach

Scientific reports, 2022-07, Vol.12 (1), p.11423-11423, Article 11423

2022

Volltextzugriff (PDF)

Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations

Journal of Medical Genetics, 2005-12, Vol.42 (12), p.881-892

2005

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Implication of non-coding PAX6 mutations in aniridia

Human genetics, 2018-10, Vol.137 (10), p.831-846

2018

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Prenatal diagnosis of Norrie disease based on ultrasound findings

Ultrasound in obstetrics & gynecology, 2019-07, Vol.54 (1), p.138-139

2019

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Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants

Journal of the neurological sciences, 2019-11, Vol.406, p.116376-116376, Article 116376

2019

Volltextzugriff (PDF)

Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia

Clinical genetics, 2013-03, Vol.83 (3), p.244-250

2013

Volltextzugriff (PDF)

Re-focusing on Agnathia-Otocephaly complex

Clinical oral investigations, 2021-03, Vol.25 (3), p.1353-1362

2021

Volltextzugriff (PDF)

The RaDiCo AC‐OEIL : a French rare disease cohort dedicated to ocular developmental anomalies in children

Acta ophthalmologica (Oxford, England), 2017-09, Vol.95 (S259), p.n/a

2017

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Freedom and autonomy in test of pandemia: When protecting leads to locked down (1) and when release leads to monitor (2)

Éthique & santé, 2020-12, Vol.17 (4), p.209-215

Calvas, P

2020

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Liberté et autonomie à l’épreuve de la pandémie : quand protéger conduit à confiner (1) et quand libérer conduit à surveiller (2)

Éthique & santé, 2020-12, Vol.17 (4), p.209-215

Calvas, P.

2020

Volltextzugriff (PDF)

Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia

Human mutation, 2006-03, Vol.27 (3), p.255-259

2006

Volltextzugriff (PDF)

Syndromic manifestations in aniridia patients with PAX6 point mutations

Acta ophthalmologica (Oxford, England), 2015-10, Vol.93 (S255), p.n/a

2015

Volltextzugriff (PDF)

Confirmation of RAX gene involvement in human anophthalmia

Clinical genetics, 2008-10, Vol.74 (4), p.392-395

2008

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4q25 microdeletion encompassing PITX2: A patient presenting with tetralogy of Fallot and dental anomalies without ocular features

European journal of medical genetics, 2018-02, Vol.61 (2), p.72-78

2018

Volltextzugriff (PDF)

Genetics in microphthalmia

Acta ophthalmologica (Oxford, England), 2016-10, Vol.94 (S256), p.n/a

2016

Volltextzugriff (PDF)

Specific gene in microphthalmia

Acta ophthalmologica (Oxford, England), 2016-10, Vol.94 (S256), p.n/a

2016

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OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

Journal of medical genetics, 2004-09, Vol.41 (9), p.e110-e110

2004

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Intracellular Ferritin Accumulation in Neural and Extraneural Tissue Characterizes a Neurodegenerative Disease Associated with a Mutation in the Ferritin Light Polypeptide Gene

Journal of neuropathology and experimental neurology, 2004-04, Vol.63 (4), p.363-380

2004

Volltextzugriff (PDF)

A [c.566-2A > G] heterozygous mutation in the PAX6 gene causes aniridia with mild visual impairment

Eye (London), 2011-05, Vol.25 (5), p.657-658

2011

Volltextzugriff (PDF)

Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases

British journal of dermatology (1951), 2010-05, Vol.162 (5), p.1044-1048

2010

Volltextzugriff (PDF)

Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis

Nature genetics, 1996-12, Vol.14 (4), p.461-464

1996

Volltextzugriff (PDF)

X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings

Clinical genetics, 2010-09, Vol.78 (3), p.257-266

2010

Volltextzugriff (PDF)

Identification of a new locus for isolated familial keratoconus at 2p24

Journal of medical genetics, 2005-01, Vol.42 (1), p.88-94

2005

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Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia

FOXE3 mutations: genotype‐phenotype correlations

Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach

Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations

Implication of non-coding PAX6 mutations in aniridia

Prenatal diagnosis of Norrie disease based on ultrasound findings

Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants

Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia

Re-focusing on Agnathia-Otocephaly complex

The RaDiCo AC‐OEIL : a French rare disease cohort dedicated to ocular developmental anomalies in children

Freedom and autonomy in test of pandemia: When protecting leads to locked down (1) and when release leads to monitor (2)

Liberté et autonomie à l’épreuve de la pandémie : quand protéger conduit à confiner (1) et quand libérer conduit à surveiller (2)

Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia

Syndromic manifestations in aniridia patients with PAX6 point mutations

Confirmation of RAX gene involvement in human anophthalmia

4q25 microdeletion encompassing PITX2: A patient presenting with tetralogy of Fallot and dental anomalies without ocular features

Genetics in microphthalmia

Specific gene in microphthalmia

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

Intracellular Ferritin Accumulation in Neural and Extraneural Tissue Characterizes a Neurodegenerative Disease Associated with a Mutation in the Ferritin Light Polypeptide Gene

A [c.566-2A > G] heterozygous mutation in the PAX6 gene causes aniridia with mild visual impairment

Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases

Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis

X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings

Identification of a new locus for isolated familial keratoconus at 2p24

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