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ATR inhibition with radiation creates an inflammatory tumour microenvironment

Annals of oncology, 2018-10, Vol.29, p.viii655-viii655

2018

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1849PATR inhibition with radiation creates an inflammatory tumour microenvironment

Annals of oncology, 2018-10, Vol.29 (suppl_8)

2018

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Australian dust storm associated with extensive Aspergillus sydowii fungal "bloom" in coastal waters

Applied and Environmental Microbiology, 2014-06, Vol.80 (11), p.3315-3320

2014

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Striate Palmoplantar Keratoderma Resulting from Desmoplakin Haploinsufficiency

Journal of investigative dermatology, 1999-12, Vol.113 (6), p.940-946

1999

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Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma

Human molecular genetics, 2000-11, Vol.9 (18), p.2761-2766

2000

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Preimplantation genetic diagnosis of skin fragility–ectodermal dysplasia syndrome

British journal of dermatology (1951), 2006-03, Vol.154 (3), p.546-550

2006

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Frameshift Mutation in the V2 Domain of Human Keratin 1 Results in Striate Palmoplantar Keratoderma

Journal of investigative dermatology, 2002-05, Vol.118 (5), p.838-844

2002

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Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1)

Human molecular genetics, 2002-04, Vol.11 (7), p.833-840

2002

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Compound Heterozygosity for Non-Sense and Mis-Sense Mutations in Desmoplakin Underlies Skin Fragility/Woolly Hair Syndrome

Journal of investigative dermatology, 2002-02, Vol.118 (2), p.232-238

2002

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Genomic Amplification of the Human Plakophilin 1 Gene and Detection of a New Mutation in Ectodermal Dysplasia/Skin Fragility Syndrome

Journal of investigative dermatology, 2000-09, Vol.115 (3), p.368-374

2000

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Comparative Mutation Detection Screening of the Type VII Collagen Gene (COL7A1) Using the Protein Truncation Test, Fluorescent Chemical Cleavage of Mismatch, and Conformation Sensitive Gel Electrophoresis

Journal of investigative dermatology, 1999-10, Vol.113 (4), p.673-686

1999

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Varietal characterization of hop (Humulus lupulus L.) by GC-MS analysis of hop cone extracts

Journal of separation science, 2009-11, Vol.32 (21), p.3720-3725

2009

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Defolliculated (Dfl): A Dominant Mouse Mutation Leading to Poor Sebaceous Gland Differentiation and Total Elimination of Pelage Follicles

Journal of investigative dermatology, 2002-07, Vol.119 (1), p.32-37

2002

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Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma

European journal of human genetics : EJHG, 2001-03, Vol.9 (3), p.197-203

2001

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New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens

British journal of dermatology (1951), 2001-08, Vol.145 (2), p.330-335

2001

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Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations

Clinical genetics, 2004-07, Vol.66 (1), p.67-72

2004

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An unusual N-terminal deletion of the laminin α3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome

Human molecular genetics, 2003-09, Vol.12 (18), p.2395-2409

2003

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Molecular prenatal diagnosis in a case of an X-linked dominant chondrodysplasia punctata

Prenatal diagnosis, 2003-09, Vol.23 (9), p.701-704

2003

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Genomic Organization, Amplification, Fine Mapping, and Intragenic Polymorphisms of the Human Hemidesmosomal Tetraspanin CD151 Gene

Biochemical and biophysical research communications, 2001-02, Vol.281 (2), p.425-430

2001

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The Gene for Naegeli–Franceschetti–Jadassohn Syndrome Maps to 17q21

Journal of investigative dermatology, 2000-10, Vol.115 (4), p.694-698

2000

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Genomic localization, organization and amplification of the human zinc transporter protein gene, ZNT4, and exclusion as a candidate gene in different clinical variants of acrodermatitis enteropathica

Archives of Dermatological Research, 2001-08, Vol.293 (8), p.392-396

2001

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Preimplantation genetic diagnosis of skin fragility-ectodermal dysplasia syndrome: PGD for skin fragility-ectodermal dysplasia syndrome

British journal of dermatology (1951), 2006-03, Vol.154 (3), p.546-550

2006

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Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin-1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome: a case report

Prenatal diagnosis, 2000-12, Vol.20 (13), p.1055-1062

2000

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An unusual N-terminal deletion of the laminin 3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome

Human molecular genetics, 2003-09, Vol.12 (18), p.2395-2409

McLean, W. H. I.

2003

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An unusual N-terminal deletion of the laminin ±3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome

Human molecular genetics, 2004-02, Vol.13 (3), p.365

2004

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ATR inhibition with radiation creates an inflammatory tumour microenvironment

1849PATR inhibition with radiation creates an inflammatory tumour microenvironment

Australian dust storm associated with extensive Aspergillus sydowii fungal "bloom" in coastal waters

Striate Palmoplantar Keratoderma Resulting from Desmoplakin Haploinsufficiency

Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma

Preimplantation genetic diagnosis of skin fragility–ectodermal dysplasia syndrome

Frameshift Mutation in the V2 Domain of Human Keratin 1 Results in Striate Palmoplantar Keratoderma

Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1)

Compound Heterozygosity for Non-Sense and Mis-Sense Mutations in Desmoplakin Underlies Skin Fragility/Woolly Hair Syndrome

Genomic Amplification of the Human Plakophilin 1 Gene and Detection of a New Mutation in Ectodermal Dysplasia/Skin Fragility Syndrome

Comparative Mutation Detection Screening of the Type VII Collagen Gene (COL7A1) Using the Protein Truncation Test, Fluorescent Chemical Cleavage of Mismatch, and Conformation Sensitive Gel Electrophoresis

Varietal characterization of hop (Humulus lupulus L.) by GC-MS analysis of hop cone extracts

Defolliculated (Dfl): A Dominant Mouse Mutation Leading to Poor Sebaceous Gland Differentiation and Total Elimination of Pelage Follicles

Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma

New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens

Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations

An unusual N-terminal deletion of the laminin α3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome

Molecular prenatal diagnosis in a case of an X-linked dominant chondrodysplasia punctata

Genomic Organization, Amplification, Fine Mapping, and Intragenic Polymorphisms of the Human Hemidesmosomal Tetraspanin CD151 Gene

The Gene for Naegeli–Franceschetti–Jadassohn Syndrome Maps to 17q21

Genomic localization, organization and amplification of the human zinc transporter protein gene, ZNT4, and exclusion as a candidate gene in different clinical variants of acrodermatitis enteropathica

Preimplantation genetic diagnosis of skin fragility-ectodermal dysplasia syndrome: PGD for skin fragility-ectodermal dysplasia syndrome

Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin-1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome: a case report

An unusual N-terminal deletion of the laminin 3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome

An unusual N-terminal deletion of the laminin ±3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome

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