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Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

Journal of medical genetics, 2022-09, Vol.59 (9), p.865-877

2022

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Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series

Journal of medical genetics, 2022-07, Vol.59 (7), p.687-690

2022

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Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome

Journal of medical genetics, 2024-03, Vol.61 (3), p.232-238

2024

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Ehlers-Danlos syndrome has varied molecular mechanisms

Journal of medical genetics, 1997-05, Vol.34 (5), p.400-410

1997

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Exome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease gene

Journal of medical genetics, 2024-07, Vol.61 (7), p.699-706

2024

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Arterial complications in classical Ehlers-Danlos syndrome: a case series

Journal of medical genetics, 2020-11, Vol.57 (11), p.769-776

2020

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Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome

Journal of medical genetics, 2024-10, Vol.61 (10), p.950-958

2024

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Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation

Journal of medical genetics, 2006-03, Vol.43 (3), p.232-237

2006

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A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II

Journal of medical genetics, 1998-10, Vol.35 (10), p.846-848

1998

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Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV

Journal of medical genetics, 1992-06, Vol.29 (6), p.375-380

1992

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Total absence of the α2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems

Journal of medical genetics, 2006-07, Vol.43 (7), p.e36-e36

2006

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Met>Val substitution in a highly conserved region of the pro-α1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype

Journal of medical genetics, 2004-07, Vol.41 (7), p.e96-e96

2004

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Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene

Journal of medical genetics, 2003-05, Vol.40 (5), p.e53-53

2003

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A T super(+6) to C super(+6) mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV

Journal of medical genetics, 1993-01, Vol.30 (5), p.376-380

1993

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Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series

Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome

Ehlers-Danlos syndrome has varied molecular mechanisms

Exome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease gene

Arterial complications in classical Ehlers-Danlos syndrome: a case series

Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome

Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation

A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II

Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV

Total absence of the α2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems

Met>Val substitution in a highly conserved region of the pro-α1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype

Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene

A T super(+6) to C super(+6) mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV

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