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Angiographic Signatures of the Predominant Form of Familial Transthyretin Amyloidosis (Val30Met Mutation)

American journal of ophthalmology, 2018-08, Vol.192, p.169-177

2018

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Hereditary Systemic Amyloidosis Due to Asp76Asn Variant β2-Microglobulin

The New England journal of medicine, 2012-06, Vol.366 (24), p.2276-2283

2012

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New clinical forms of hereditary apoA-I amyloidosis entail both glomerular and retinal amyloidosis

Kidney international, 2020-07, Vol.98 (1), p.195-208

2020

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Farmers concerns in relation to organic livestock production

Italian journal of animal science, 2023-12, Vol.22 (1), p.1268-1282

2023

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Choroidal and peripapillary changes in high myopic eyes with Stickler syndrome

BMC ophthalmology, 2021-01, Vol.21 (1), p.2-2, Article 2

2021

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Homozygous Nonsense Mutation in the FOXE3 Gene as a Cause of Congenital Primary Aphakia in Humans

American journal of human genetics, 2006-08, Vol.79 (2), p.358-364

2006

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A new mouse mutant with cleavage-resistant versican and isoform-specific versican mutants demonstrate that proteolysis at the Glu441-Ala442 peptide bond in the V1 isoform is essential for interdigital web regression

Matrix biology plus, 2021-06, Vol.10, p.100064-100064, Article 100064

2021

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Hereditary renal amyloidosis caused by a new variant lysozyme W64R in a French family

Kidney international, 2002-03, Vol.61 (3), p.907-912

2002

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Optical Coherence Tomography Angiography Assessment in Congenital Aniridia

American journal of ophthalmology, 2023-09, Vol.253, p.44-48

2023

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Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches

Progress in retinal and eye research, 2023-07, Vol.95, p.101133-101133, Article 101133

2023

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Recent developments in the management of congenital cataract

Annals of translational medicine, 2020-11, Vol.8 (22), p.1545-1545

2020

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Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A

Blood, 2002-10, Vol.100 (8), p.3034-3036

2002

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Hereditary lysozyme amyloidosis with sicca syndrome, digestive, arterial, and tracheobronchial involvement: case-based review

Clinical Rheumatology, 2017-11, Vol.36 (11), p.2623-2628

2017

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VLITL is a major cross-β-sheet signal for fibrinogen Aα-chain frameshift variants

Blood, 2017-12, Vol.130 (25), p.2799-2807

2017

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Organ Transplantation in Hereditary Fibrinogen A α-Chain Amyloidosis: A Case Series of French Patients

American journal of kidney diseases, 2020-09, Vol.76 (3), p.384-391

2020

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Amyloid polyneuropathies--biochemical and genetic aspects

Bulletin de l'Académie nationale de médecine, 2012-10, Vol.196 (7), p.1309-18; discussion 1318-20

2012

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Les polyneuropathies amyloïdes: aspects biochimiques et génétiques

Bulletin de l'Académie nationale de médecine, 2012-10, Vol.196 (7), p.1309-1318

2012

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Deletions Overlapping VCAN Exon 8 Are New Molecular Defects for Wagner Disease

Human mutation, 2017-01, Vol.38 (1), p.43-47

2017

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Protocole national de diagnostic et de soins (PNDS) de l’aniridie congénitale : synthèse pour le médecin traitant

Journal français d'ophtalmologie, 2022-06, Vol.45 (6), p.647-652

2022

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Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome

Human molecular genetics, 1993-04, Vol.2 (4), p.355-359

1993

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De novo splice mutation in the versican gene in a family with Wagner syndrome

JAMA ophthalmology, 2013-06, Vol.131 (6), p.805

2013

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Diagnosis of cardiac amyloidosis by magnetic resonance imaging due to a new mutation in the transthyretin gene

Archives of cardiovascular diseases, 2012-11, Vol.105 (11), p.614-615

2012

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A new family with hereditary lysozyme amyloidosis with gastritis and inflammatory bowel disease as prevailing symptoms

BMC gastroenterology, 2014-09, Vol.14 (1), p.159-159, Article 159

2014

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Angiographic Signatures of the Predominant Form of Familial Transthyretin Amyloidosis (Val30Met Mutation)

Hereditary Systemic Amyloidosis Due to Asp76Asn Variant β2-Microglobulin

Mass spectrometry-based proteomics in clinical practice amyloid typing: state-of-the-art from a French nationwide cohort

New clinical forms of hereditary apoA-I amyloidosis entail both glomerular and retinal amyloidosis

Farmers concerns in relation to organic livestock production

Choroidal and peripapillary changes in high myopic eyes with Stickler syndrome

Homozygous Nonsense Mutation in the FOXE3 Gene as a Cause of Congenital Primary Aphakia in Humans

A new mouse mutant with cleavage-resistant versican and isoform-specific versican mutants demonstrate that proteolysis at the Glu441-Ala442 peptide bond in the V1 isoform is essential for interdigital web regression

Hereditary renal amyloidosis caused by a new variant lysozyme W64R in a French family

Optical Coherence Tomography Angiography Assessment in Congenital Aniridia

Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches

Recent developments in the management of congenital cataract

Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A

Hereditary lysozyme amyloidosis with sicca syndrome, digestive, arterial, and tracheobronchial involvement: case-based review

VLITL is a major cross-β-sheet signal for fibrinogen Aα-chain frameshift variants

Organ Transplantation in Hereditary Fibrinogen A α-Chain Amyloidosis: A Case Series of French Patients

D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile

Amyloid polyneuropathies--biochemical and genetic aspects

Les polyneuropathies amyloïdes: aspects biochimiques et génétiques

Deletions Overlapping VCAN Exon 8 Are New Molecular Defects for Wagner Disease

Protocole national de diagnostic et de soins (PNDS) de l’aniridie congénitale : synthèse pour le médecin traitant

Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome

De novo splice mutation in the versican gene in a family with Wagner syndrome

Diagnosis of cardiac amyloidosis by magnetic resonance imaging due to a new mutation in the transthyretin gene

A new family with hereditary lysozyme amyloidosis with gastritis and inflammatory bowel disease as prevailing symptoms

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