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A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma

Journal of the European Academy of Dermatology and Venereology, 2024-02, Vol.38 (2), p.413-418

2024

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Hereditary palmoplantar keratoderma – phenotypes and mutations in 64 patients

Journal of the European Academy of Dermatology and Venereology, 2021-09, Vol.35 (9), p.1874-1880

2021

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Valproate embryopathy in three sets of siblings: further proof of hereditary susceptibility

Neurology, 2002-08, Vol.59 (4), p.630-633

2002

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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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Rapp-Hodgkin syndrome and the tail of p63

Clinical and experimental dermatology, 2005-03, Vol.30 (2), p.183-186

2005

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Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16

American journal of human genetics, 1996-11, Vol.59 (5), p.1097-1107

1996

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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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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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Primary structure of the alpha 1 chain of human type XV collagen and exon-intron organization in the 3' region of the corresponding gene

The Journal of biological chemistry, 1994-02, Vol.269 (7), p.4773-4779

1994

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Distribution of type XV collagen transcripts in human tissue and their production by muscle cells and fibroblasts

The American journal of pathology, 1995-11, Vol.147 (5), p.1500-1509

1995

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Primary structure of the α1 chain of human type XV collagen and exon-intron organization in the 3' region of the corresponding gene

The Journal of biological chemistry, 1994, Vol.269 (7), p.4773-4779

1994

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Cytokine modulation of type XV collagen gene expression in human dermal fibroblast cultures

Experimental dermatology, 1999-10, Vol.8 (5), p.407-412

1999

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Identification of a previously unknown human collagen chain, alpha 1(XV), characterized by extensive interruptions in the triple-helical region

Proceedings of the National Academy of Sciences - PNAS, 1992-11, Vol.89 (21), p.10144-10148

1992

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Detection of novel LAMC2 mutations in Herlitz junctional epidermolysis Bullosa

Molecular medicine (Cambridge, Mass.), 1997-02, Vol.3 (2), p.124-135

1997

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A homozygous nonsense mutation in the 3 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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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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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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A homozygous nonsense mutation in the alpha 3 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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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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Complete Exon-Intron Organization of the Human Gene for the alpha 1 Chain of Type XV Collagen (COL15A1) and Comparison with the Homologous Col18a1 Gene

The Journal of biological chemistry, 1998-07, Vol.273 (28), p.17824-17831

1998

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Identification of a Previously Unknown Human Collagen Chain, α1(XV), Characterized by Extensive Interruptions in the Triple-Helical Region

Proceedings of the National Academy of Sciences - PNAS, 1992-11, Vol.89 (21), p.10144-10148

1992

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A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma

Hereditary palmoplantar keratoderma – phenotypes and mutations in 64 patients

Valproate embryopathy in three sets of siblings: further proof of hereditary susceptibility

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

Rapp-Hodgkin syndrome and the tail of p63

Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16

Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma

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

Primary structure of the alpha 1 chain of human type XV collagen and exon-intron organization in the 3' region of the corresponding gene

Distribution of type XV collagen transcripts in human tissue and their production by muscle cells and fibroblasts

Primary structure of the α1 chain of human type XV collagen and exon-intron organization in the 3' region of the corresponding gene

Cytokine modulation of type XV collagen gene expression in human dermal fibroblast cultures

Identification of a previously unknown human collagen chain, alpha 1(XV), characterized by extensive interruptions in the triple-helical region

Detection of novel LAMC2 mutations in Herlitz junctional epidermolysis Bullosa

A homozygous nonsense mutation in the 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa

Prenatally detected trisomy 7 mosaicism in a dysmorphic child

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

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

A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa

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

Complete Exon-Intron Organization of the Human Gene for the alpha 1 Chain of Type XV Collagen (COL15A1) and Comparison with the Homologous Col18a1 Gene

Identification of a Previously Unknown Human Collagen Chain, α1(XV), Characterized by Extensive Interruptions in the Triple-Helical Region

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