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Targeting earlier diagnosis: What symptoms come first in Degenerative Cervical Myelopathy?

PloS one, 2023-03, Vol.18 (3), p.e0281856-e0281856

2023

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Mutations in AQP5, Encoding a Water-Channel Protein, Cause Autosomal-Dominant Diffuse Nonepidermolytic Palmoplantar Keratoderma

American journal of human genetics, 2013-08, Vol.93 (2), p.330-335

2013

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Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris

Nature genetics, 2006-03, Vol.38 (3), p.337-342

2006

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A Novel Insight Into the Challenges of Diagnosing Degenerative Cervical Myelopathy Using Web-Based Symptom Checkers

Journal of medical Internet research, 2019-01, Vol.21 (1), p.e10868-e10868

2019

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Machine Learning and Symptom Patterns in Degenerative Cervical Myelopathy: Web-Based Survey Study

JMIR formative research, 2024-01, Vol.8, p.e54747-e54747

2024

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Heterozygous Null Alleles in Filaggrin Contribute to Clinical Dry Skin in Young Adults and the Elderly

Journal of investigative dermatology, 2009-04, Vol.129 (4), p.1042-1045

2009

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Novel ATP2A2 mutations in a large sample of individuals with Darier disease

Journal of dermatology, 2013-04, Vol.40 (4), p.259-266

2013

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trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation

Journal of cell science, 2001-06, Vol.114 (Pt 11), p.2105-2113

2001

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A Missense Mutation in Connexin26, D66H, Causes Mutilating Keratoderma with Sensorineural Deafness (Vohwinkel's Syndrome) in Three Unrelated Families

Human molecular genetics, 1999-07, Vol.8 (7), p.1237-1243

1999

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Early Death from Cardiomyopathy in a Family with Autosomal Dominant Striate Palmoplantar Keratoderma and Woolly Hair Associated with a Novel Insertion Mutation in Desmoplakin

Journal of investigative dermatology, 2006-07, Vol.126 (7), p.1651-1654

2006

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The Genetic Basis of Pachyonychia Congenita

The Journal of investigative dermatology symposium proceedings, 2005-10, Vol.10 (1), p.21-30

2005

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Molecular genetics of the skin: the implications of understanding

Clinical medicine (London, England), 2009-12, Vol.9 (6), p.591-592

Munro, Colin S

2009

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Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease

Nature genetics, 1999-03, Vol.21 (3), p.271-277

1999

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Hailey-Hailey Disease: Molecular and Clinical Characterization of Novel Mutations in the ATP2C1 Gene

Journal of investigative dermatology, 2002-02, Vol.118 (2), p.338-343

2002

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Mutations in the SASPase Gene (ASPRV1) Are Not Associated with Atopic Eczema or Clinically Dry Skin

Journal of investigative dermatology, 2012-05, Vol.132 (5), p.1507-1510

2012

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Hailey–Hailey Disease: Identification of Novel Mutations in ATP2C1 and Effect of Missense Mutation A528P on Protein Expression Levels

Journal of investigative dermatology, 2004-07, Vol.123 (1), p.67-71

2004

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Filaggrin Null Mutations Are Not a Protective Factor for Acne Vulgaris

Journal of investigative dermatology, 2011-06, Vol.131 (6), p.1378-1380

2011

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ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class

Human molecular genetics, 1999-09, Vol.8 (9), p.1621-1630

1999

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OBITUARIES: Neil Harrison Cox

BMJ. British medical journal (International ed.), 2010-06, Vol.340 (7758), p.1248

Munro, Colin

International edition, 2010

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Epidermal mosaicism producing localised acne: somatic mutation in FGFR2

The Lancet (British edition), 1998-08, Vol.352 (9129), p.704-705

1998

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Mutations in the AAGAB gene, encoding alpha- and gamma-adaptin binding protein p34, cause punctate palmoplantar keratoderma type 1

Journal of dermatological science, 2013-02, Vol.69 (2), p.e53-e53

2013

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Cognitive Assessment via Telephone: A Scoping Review of Instruments

Archives of clinical neuropsychology, 2020-11, Vol.35 (8), p.1215-1233

2020

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Novel and Recurrent Mutations in the Genes Encoding Keratins K6a, K16 and K17 in 13 Cases of Pachyonychia Congenita

Journal of investigative dermatology, 2001-12, Vol.117 (6), p.1391-1396

2001

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Two families with Greither's syndrome caused by a keratin 1 mutation

Journal of the American Academy of Dermatology, 2005-11, Vol.53 (5), p.S225-S230

2005

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Targeting earlier diagnosis: What symptoms come first in Degenerative Cervical Myelopathy?

Mutations in AQP5, Encoding a Water-Channel Protein, Cause Autosomal-Dominant Diffuse Nonepidermolytic Palmoplantar Keratoderma

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris

A Novel Insight Into the Challenges of Diagnosing Degenerative Cervical Myelopathy Using Web-Based Symptom Checkers

Machine Learning and Symptom Patterns in Degenerative Cervical Myelopathy: Web-Based Survey Study

Heterozygous Null Alleles in Filaggrin Contribute to Clinical Dry Skin in Young Adults and the Elderly

Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema

Novel ATP2A2 mutations in a large sample of individuals with Darier disease

trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation

A Missense Mutation in Connexin26, D66H, Causes Mutilating Keratoderma with Sensorineural Deafness (Vohwinkel's Syndrome) in Three Unrelated Families

Early Death from Cardiomyopathy in a Family with Autosomal Dominant Striate Palmoplantar Keratoderma and Woolly Hair Associated with a Novel Insertion Mutation in Desmoplakin

The Genetic Basis of Pachyonychia Congenita

Molecular genetics of the skin: the implications of understanding

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease

Hailey-Hailey Disease: Molecular and Clinical Characterization of Novel Mutations in the ATP2C1 Gene

Mutations in the SASPase Gene (ASPRV1) Are Not Associated with Atopic Eczema or Clinically Dry Skin

Hailey–Hailey Disease: Identification of Novel Mutations in ATP2C1 and Effect of Missense Mutation A528P on Protein Expression Levels

Filaggrin Null Mutations Are Not a Protective Factor for Acne Vulgaris

ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class

OBITUARIES: Neil Harrison Cox

Epidermal mosaicism producing localised acne: somatic mutation in FGFR2

Mutations in the AAGAB gene, encoding alpha- and gamma-adaptin binding protein p34, cause punctate palmoplantar keratoderma type 1

Cognitive Assessment via Telephone: A Scoping Review of Instruments

Novel and Recurrent Mutations in the Genes Encoding Keratins K6a, K16 and K17 in 13 Cases of Pachyonychia Congenita

Two families with Greither's syndrome caused by a keratin 1 mutation

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