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The Genomic Architecture of Hidradenitis Suppurativa-A Systematic Review

Frontiers in genetics, 2022-03, Vol.13, p.861241-861241

2022

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Serum Immunoglobulin G Is a Marker of Hidradenitis Suppurativa Disease Severity

International journal of molecular sciences, 2022-11, Vol.23 (22), p.13800

2022

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Interpreting the spectrum of gamma-secretase complex missense variation in the context of hidradenitis suppurativa—An in-silico study

Frontiers in genetics, 2022-09, Vol.13, p.962449-962449

2022

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The Clinical Relevance of the Microbiome in Hidradenitis Suppurativa: A Systematic Review

Vaccines (Basel), 2021-09, Vol.9 (10), p.1076

2021

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A respiratory/Hirschsprung phenotype in a three‐generation family associated with a novel pathogenic PHOX2B splice donor mutation

Molecular genetics & genomic medicine, 2020-12, Vol.8 (12), p.e1528-n/a

2020

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NCSTN In-Frame Deletion in Maltese Patients With Hidradenitis Suppurativa

JAMA dermatology (Chicago, Ill.), 2023-09, Vol.159 (9), p.939

2023

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A novel SPINK5 donor splice site variant in a child with Netherton syndrome

Molecular genetics & genomic medicine, 2021-03, Vol.9 (3), p.e1611-n/a

2021

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Two novel GJA1 variants in oculodentodigital dysplasia

Molecular genetics & genomic medicine, 2019-09, Vol.7 (9), p.e882-n/a

2019

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Quantitative Analysis of Conjunctival and Retinal Vessels in Fabry Disease

Journal of ophthalmology, 2019-01, Vol.2019 (2019), p.1-6

2019

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Management of patients with hidradenitis suppurativa having underlying genetic variation: a systematic review and a call for precision medicine

Clinical and experimental dermatology, 2023-02, Vol.48 (2), p.67-72

2023

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Hypermobile Ehlers–Danlos syndrome: A review and a critical appraisal of published genetic research to date

Clinical genetics, 2022-01, Vol.101 (1), p.20-31

2022

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NOD2 at the interface of hidradenitis suppurativa and inflammatory bowel disease—An in silico analysis

Experimental dermatology, 2024-01, Vol.33 (1), p.e14928-n/a

2024

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Wide disparity of clinical genetics services and EU rare disease research funding across Europe

Journal of community genetics, 2016-04, Vol.7 (2), p.119-126

2016

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STATE-OF-THE-ART OF GENETIC TESTING, COUNSELLING AND TRAINING IN PSYCHIATRY IN EUROPE: OPPORTUNITIES AND PITFALLS OF THE IMPLEMENTATION OF PSYCHIATRIC GENETICS IN MEDICAL PRACTICE

EUROPEAN NEUROPSYCHOPHARMACOLOGY, 2022, Vol.63, p.e314-e315

2022

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Molecular cytogenetic characterisation of a novel de novo ring chromosome 6 involving a terminal 6p deletion and terminal 6q duplication in the different arms of the same chromosome

Molecular cytogenetics, 2017-03, Vol.10 (1), p.9, Article 9

2017

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Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature

International journal of environmental research and public health, 2020-12, Vol.17 (24), p.9253

2020

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Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe – A multi-professional survey study

European journal of medical genetics, 2023-08, Vol.66 (8), p.104805-104805, Article 104805

2023

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Fundus phenotype in retinitis pigmentosa associated with EYS mutations

Ophthalmic genetics, 2018-10, Vol.39 (5), p.589-602

2018

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Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome

European journal of human genetics : EJHG, 2005-08, Vol.13 (8), p.921-927

2005

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Two novel ENG variants in families with type 1 hereditary haemorrhagic telangiectasia

Journal of Clinical Images and Medical Case Reports, 2024-04, Vol.5 (4)

2024

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Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome

Journal of medical genetics, 1995-09, Vol.32 (9), p.692-696

1995

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A clinical and molecular cytogenetic study of patients with mental retardation, developmental delay and dysmorphism associated with an apparently normal or balanced rearranged karyotype

Borg, Isabella

2003

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Molecular cytogenetic characterisation of a novel de novo ring chromosome 6 involving a terminal 6p deletion and terminal 6q duplication in the different arms of the same chromosome

Molecular cytogenetics, 2017, Vol.10, p.9-9

2017

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Fundus phenotype in retinitis pigmentosa associated with EYS mutations

Ophthalmic Genetics, 2018, Vol.39 (5), p.589-602

2018

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Bullying at Work and Onset of a Major Depressive Episode among Danish Female Eldercare Workers

Scandinavian Journal of Work, Environment ＆ Health, 2012-05, Vol.38 (3), p.218-227+iv

2012

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The Genomic Architecture of Hidradenitis Suppurativa-A Systematic Review

Serum Immunoglobulin G Is a Marker of Hidradenitis Suppurativa Disease Severity

Interpreting the spectrum of gamma-secretase complex missense variation in the context of hidradenitis suppurativa—An in-silico study

The Clinical Relevance of the Microbiome in Hidradenitis Suppurativa: A Systematic Review

A respiratory/Hirschsprung phenotype in a three‐generation family associated with a novel pathogenic PHOX2B splice donor mutation

NCSTN In-Frame Deletion in Maltese Patients With Hidradenitis Suppurativa

A novel SPINK5 donor splice site variant in a child with Netherton syndrome

Two novel GJA1 variants in oculodentodigital dysplasia

Quantitative Analysis of Conjunctival and Retinal Vessels in Fabry Disease

Management of patients with hidradenitis suppurativa having underlying genetic variation: a systematic review and a call for precision medicine

Hypermobile Ehlers–Danlos syndrome: A review and a critical appraisal of published genetic research to date

NOD2 at the interface of hidradenitis suppurativa and inflammatory bowel disease—An in silico analysis

Wide disparity of clinical genetics services and EU rare disease research funding across Europe

STATE-OF-THE-ART OF GENETIC TESTING, COUNSELLING AND TRAINING IN PSYCHIATRY IN EUROPE: OPPORTUNITIES AND PITFALLS OF THE IMPLEMENTATION OF PSYCHIATRIC GENETICS IN MEDICAL PRACTICE

Molecular cytogenetic characterisation of a novel de novo ring chromosome 6 involving a terminal 6p deletion and terminal 6q duplication in the different arms of the same chromosome

Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature

Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe – A multi-professional survey study

Fundus phenotype in retinitis pigmentosa associated with EYS mutations

Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome

Two novel ENG variants in families with type 1 hereditary haemorrhagic telangiectasia

Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome

A clinical and molecular cytogenetic study of patients with mental retardation, developmental delay and dysmorphism associated with an apparently normal or balanced rearranged karyotype

Molecular cytogenetic characterisation of a novel de novo ring chromosome 6 involving a terminal 6p deletion and terminal 6q duplication in the different arms of the same chromosome

Fundus phenotype in retinitis pigmentosa associated with EYS mutations

Bullying at Work and Onset of a Major Depressive Episode among Danish Female Eldercare Workers

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