Associated Papers
The potential of deep learning on the discovery of new genes implicated in differences of sex development.
von der Decken I et al.
Computational and Structural Biotechnology Journal, 2026
Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.
Villa M et al.
British Journal of Cancer, 2024
Enrichment of Patients With Ehlers Danlos Syndrome in Idiopathic Gastroparesis-A Gene Set Enrichment Analysis.
Smieszek SP et al.
Clinical and Translational Gastroenterology, 2023
Germline Variants Associated with Nasopharyngeal Carcinoma Predisposition Identified through Whole-Exome Sequencing.
Lee NY et al.
Cancers, 2022
Molecular Basis of Pathogenic Variants in the Fibrillar Collagens.
Richards AJ et al.
Genes, 2022
Evaluating the Feasibility of Screening Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Diseases: The REST Study.
Abbasciano RG et al.
Journal of the American Heart Association, 2022
Machine Learning-Based Approach Highlights the Use of a Genomic Variant Profile for Precision Medicine in Ovarian Failure.
Henarejos-Castillo I et al.
Journal of Personalized Medicine, 2021
Low penetrance COL5A1 variants in a young patient with intracranial aneurysm and very mild signs of Ehlers-Danlos syndrome.
Errichiello E et al.
European Journal of Medical Genetics, 2021
[Gene mutation analysis of 19 Uighur families with aortic disease in Kashgar, China].
Yu C et al.
Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2020
Overlapping variants in the blood, tissues and cell lines for patients with intracranial meningiomas are predominant in stem cell-related genes.
Hussein D et al.
Heliyon, 2020
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Papuc SM et al.
European Journal of Human Genetics : Ejhg, 2019
New variants in COL5A1 gene among Polish patients with Ehlers-Danlos syndrome: analysis of nine cases.
Junkiert-Czarnecka A et al.
Postepy Dermatologii I Alergologii, 2019
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 2018
Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies.
Barbato E et al.
Archives of Oral Biology, 2018
Ex vivo nonlinear microscopy imaging of Ehlers-Danlos syndrome-affected skin.
Kiss N et al.
Archives of Dermatological Research, 2018
Ehlers-Danlos syndrome, classical type.
Bowen JM et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017
Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies.
Andreeva TV et al.
Scientific Reports, 2016
Structural in silico dissection of the collagen V interactome to identify genotype-phenotype correlations in classic Ehlers-Danlos Syndrome (EDS).
Paladin L et al.
Febs Letters, 2015
Pulmonary Nontuberculous Mycobacterial Infection. A Multisystem, Multigenic Disease.
Szymanski EP et al.
American Journal of Respiratory and Critical Care Medicine, 2015
A de novo 1.58 Mb deletion, including MAP2K6 and mapping 1.28 Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures.
Smyk M et al.
American Journal of Medical Genetics. Part A, 2015
Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.
Valencia CA et al.
Frontiers in Pediatrics, 2015
Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.
Symoens S et al.
Human Mutation, 2012
In vivo evidence for a bridging role of a collagen V subtype at the epidermis-dermis interface.
Bonod-Bidaud C et al.
The Journal of Investigative Dermatology, 2012
A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement.
Symoens S et al.
Plos One, 2011
Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation.
Borck G et al.
American Journal of Medical Genetics. Part A, 2010
Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS).
Mitchell AL et al.
Human Mutation, 2009
COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome.
Symoens S et al.
Human Mutation, 2009
The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure.
Giunta C et al.
American Journal of Medical Genetics. Part A, 2008
Molecular genetics in classic Ehlers-Danlos syndrome.
Malfait F et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2005
The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.
Malfait F et al.
Human Mutation, 2005
Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.
Schwarze U et al.
American Journal of Human Genetics, 2004
A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia.
Tysoe C et al.
Qjm : Monthly Journal of the Association of Physicians, 2003
Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome.
Giunta C et al.
American Journal of Medical Genetics, 2002
Quantification of single nucleotide polymorphisms: a novel method that combines primer extension assay and capillary electrophoresis.
Mátyás G et al.
Human Mutation, 2002
Detection of mutations in human cancer using nonisotopic RNase cleavage assay.
Goldrick M et al.
Methods in Molecular Medicine, 2002
A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.
Schalkwijk J et al.
The New England Journal of Medicine, 2001
The devil of the one letter code and the Ehlers-Danlos syndrome: corrigendum.
Steinmann B et al.
American Journal of Medical Genetics, 2000
COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS.
Wenstrup RJ et al.
American Journal of Human Genetics, 2000
Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?
Giunta C et al.
American Journal of Medical Genetics, 2000
Genomic analysis of 21 patients with corneal neuralgia after refractive surgery.
Yuan JH et al.
Pain Reports, 0
Precision medicine using whole genome sequencing in a cat identifies a novel COL5A1 variant for classical Ehlers-Danlos syndrome.
McElroy A et al.
Journal of Veterinary Internal Medicine, 0