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Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation

Journal of the American Academy of Dermatology, 2020-08, Vol.83 (2), p.643-645

2020

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Novel TMEM173 Mutation and the Role of Disease Modifying Alleles

Frontiers in immunology, 2019-12, Vol.10, p.2770-2770

2019

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Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA

Orphanet journal of rare diseases, 2024-05, Vol.19 (1), p.213-213, Article 213

2024

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IgE allergen component-based profiling and atopic manifestations in patients with Netherton syndrome

Journal of allergy and clinical immunology, 2014-10, Vol.134 (4), p.985-988

2014

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Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma

Acta dermato-venereologica, 2020-02, Vol.100 (4), p.adv00060-adv00060

2020

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De novo SPTAN1 mutation in axonal sensorimotor neuropathy and developmental disorder

Brain (London, England : 1878), 2020-12, Vol.143 (12), p.e104-e104

2020

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Identification of SPRED1 deletions using RT‐PCR, multiplex ligation‐dependent probe amplification and quantitative PCR

American journal of medical genetics. Part A, 2011-06, Vol.155 (6), p.1352-1359

2011

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Chorea-acanthocytosis associated with two novel heterozygous mutations in the VPS13A gene

Journal of the neurological sciences, 2020-01, Vol.408, p.116555, Article 116555

2020

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Recessive MYH3 variants cause “Contractures, pterygia, and variable skeletal fusions syndrome 1B” mimicking Escobar variant multiple pterygium syndrome

American journal of medical genetics. Part A, 2020-11, Vol.182 (11), p.2605-2610

2020

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Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation

Journal of the American Academy of Dermatology, 2020

2020

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Mutational Hotspots in the LAMB3 Gene in the Lethal (Herlitz) Type of Junctional Epidermolysis Bullosa

Human molecular genetics, 1996-02, Vol.5 (2), p.231-237

1996

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Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma

Acta dermato-venereologica, 2020

2020

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Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation

JAMA dermatology (Chicago, Ill.), 2016-04, Vol.152 (4), p.435

2016

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The Value of FLG Null Mutations in Predicting Treatment Response in Atopic Dermatitis: An Observational Study in Finnish Patients

Acta dermato-venereologica, 2017-04, Vol.97 (4), p.456-463

2017

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DLX3 Homeodomain Mutations Cause Tricho-Dento-Osseous Syndrome with Novel Phenotypes

Cells, tissues, organs, 2011-06, Vol.194 (1), p.49-59

2011

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A GT-rich Sequence Binding the Transcription Factor Sp1 Is Crucial for High Expression of the Human Type VII Collagen Gene (COL7A1) in Fibroblasts and Keratinocytes

The Journal of biological chemistry, 1997-04, Vol.272 (15), p.10196-10204

1997

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A Recurrent Homozygous Nonsense Mutation within the LAMA3 Gene as a Cause of Herlitz Junctional Epidermolysis Bullosa in Patients of Pakistani Ancestry: Evidence for a Founder Effect

Journal of investigative dermatology, 1996-04, Vol.106 (4), p.781-784

1996

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Analysis of KLHDC8B in familial nodular lymphocyte predominant Hodgkin lymphoma

British journal of haematology, 2011-08, Vol.154 (3), p.413-415

2011

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Cloning of the Gene for Human Pemphigus Vulgaris Antigen (Desmoglein 3), a Desmosomal Cadherin

The Journal of biological chemistry, 1996-07, Vol.271 (29), p.17504-17511

1996

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Identification of SPARED1 Deletions using RT-PCR, Multiplex Ligation-dependent Probe Amplification and Quantitative PCR

American journal of medical genetics. Part A, 2011, Vol.155 (6), p.1352-1359

2011

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A homozygous nonsense mutation in the α3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa

Human molecular genetics, 1995-05, Vol.4 (5), p.959-962

1995

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Prenatally detected trisomy 7 mosaicism in a dysmorphic child

Prenatal diagnosis, 2002-07, Vol.22 (7), p.541-544

2002

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A syndrome with multiple malformations, mental retardation, and ACTH deficiency

American journal of medical genetics, 2004-04, Vol.126A (3), p.313-318

2004

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Epidermolysis Bullosa Simplex with mottled pigmentation : mutation analysis in the first reported Hispanic pedigree with the largest single generation of affected individuals to date

EJD. European journal of dermatology, 2006-03, Vol.16 (2), p.132-135

2006

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Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles

Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA

Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis

IgE allergen component-based profiling and atopic manifestations in patients with Netherton syndrome

Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma

De novo SPTAN1 mutation in axonal sensorimotor neuropathy and developmental disorder

Identification of SPRED1 deletions using RT‐PCR, multiplex ligation‐dependent probe amplification and quantitative PCR

Chorea-acanthocytosis associated with two novel heterozygous mutations in the VPS13A gene

Recessive MYH3 variants cause “Contractures, pterygia, and variable skeletal fusions syndrome 1B” mimicking Escobar variant multiple pterygium syndrome

Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation

Mutational Hotspots in the LAMB3 Gene in the Lethal (Herlitz) Type of Junctional Epidermolysis Bullosa

Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma

Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation

The Value of FLG Null Mutations in Predicting Treatment Response in Atopic Dermatitis: An Observational Study in Finnish Patients

DLX3 Homeodomain Mutations Cause Tricho-Dento-Osseous Syndrome with Novel Phenotypes

A GT-rich Sequence Binding the Transcription Factor Sp1 Is Crucial for High Expression of the Human Type VII Collagen Gene (COL7A1) in Fibroblasts and Keratinocytes

A Recurrent Homozygous Nonsense Mutation within the LAMA3 Gene as a Cause of Herlitz Junctional Epidermolysis Bullosa in Patients of Pakistani Ancestry: Evidence for a Founder Effect

Analysis of KLHDC8B in familial nodular lymphocyte predominant Hodgkin lymphoma

Cloning of the Gene for Human Pemphigus Vulgaris Antigen (Desmoglein 3), a Desmosomal Cadherin

Identification of SPARED1 Deletions using RT-PCR, Multiplex Ligation-dependent Probe Amplification and Quantitative PCR

A homozygous nonsense mutation in the α3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa

Prenatally detected trisomy 7 mosaicism in a dysmorphic child

A syndrome with multiple malformations, mental retardation, and ACTH deficiency

Epidermolysis Bullosa Simplex with mottled pigmentation : mutation analysis in the first reported Hispanic pedigree with the largest single generation of affected individuals to date

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