Lista de obras -

A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.

artículo científico publicado en 2017

A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome

artículo científico publicado en 2020

Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients

artículo científico publicado en 2019

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

artículo científico publicado en 2020

Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility

artículo científico publicado en 2019

Authors' reply to Mahmood, Borumandi, and Williams

artículo científico publicado en 2019

Classical-like Ehlers-Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility

artículo científico publicado en 2020

Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome

artículo científico publicado en 2020

Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review

scientific article published on 22 April 2020

Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene.

artículo científico publicado en 2015

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

scientific article published on 08 January 2019

Ehlers-Danlos syndromes

scientific article published on 18 September 2019

Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia

artículo científico publicado en 2020

Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals.

artículo científico publicado en 2018

Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay

artículo científico publicado en 2017

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

scholarly article

Prospective clinical investigations of children with periodontal Ehlers-Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature

scientific article published on 02 October 2020

Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects

artículo científico publicado en 2016

Recognizing vascular Ehlers-Danlos syndrome (type IV) in the newborn.

artículo científico publicado en 2016

SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid

artículo científico publicado en 2013

Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.

artículo científico publicado en 2016

The 2017 international classification of the Ehlers-Danlos syndromes

artículo científico publicado en 2017

The Ehlers-Danlos syndromes, rare types

artículo científico publicado en 2017

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

artículo científico publicado en 2013

Lista de obras de

A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.

A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome

Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients

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

Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility

Authors' reply to Mahmood, Borumandi, and Williams

Classical-like Ehlers-Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility

Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome

Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review

Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene.

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

Ehlers-Danlos syndromes

Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia

Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals.

Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

Prospective clinical investigations of children with periodontal Ehlers-Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature

Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects

Recognizing vascular Ehlers-Danlos syndrome (type IV) in the newborn.

SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid

Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.

The 2017 international classification of the Ehlers-Danlos syndromes

The Ehlers-Danlos syndromes, rare types

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP