Dopping-Hepenstal, P.J.C. : rechercher sur Z-Library

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Articles (43)
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Head-up displays. The integrity of flight information

Dopping-Hepenstal, L.L.

Journal:

IEE Proceedings F Communications Radar and Signal Processing

Année:

1981

Langue:

english

Fichier:

PDF, 554 KB

english, 1981

Desmosomes exhibit site-specific features in human palm skin

Hong Wan, Patricia J. C. Dopping-Hepenstal, Matthew J. Gratian, Michael G. Stone, John A. McGrath, Robin A. J. Eady

Journal:

Experimental Dermatology

Année:

2003

Langue:

english

Fichier:

PDF, 350 KB

english, 2003

Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1

McGRATH, HOEGER, CHRISTIANO, McMILLAN, MELLERIO, ASHTON, DOPPING-HEPENSTAL, LAKE, LEIGH, HARPER, EADY

Journal:

British Journal of Dermatology

Année:

1999

Langue:

english

Fichier:

PDF, 2.03 MB

english, 1999

Identification of a Novel Mutation R42P in the Gap Junction Protein β-3 Associated with Autosomal Dominant Erythrokeratoderma Variabilis

Wilgoss, Amanda, Leigh, Irene M, Barnes, Michael R, Dopping-Hepenstal, Patricia, Eady, Robin A J, Walter, Joanne M, Kennedy, Cameron T C, Kelsell, David P

Journal:

The Journal of Investigative Dermatology

Année:

1999

Langue:

english

Fichier:

PDF, 428 KB

english, 1999

Striate Palmoplantar Keratoderma Resulting from Desmoplakin Haploinsufficiency

Whittock, Neil V, Ashton, Gabrielle H S, Dopping-Hepenstal, Patricia J C, Gratian, Matthew J, Keane, Fiona M, Eady, Robin A J, McGrath, John A

Journal:

The Journal of Investigative Dermatology

Année:

1999

Langue:

english

Fichier:

PDF, 563 KB

english, 1999

Novel Splice Site Mutation in Keratin 1 Underlies Mild Epidermolytic Palmoplantar Keratoderma in Three Kindreds

Hatsell, Sarah J., Eady, Robin A., Wennerstrand, Lena, Dopping-Hepenstal, Patricia, Leigh, Irene M., Munro, Colin, Kelsell, David P.

Journal:

The Journal of Investigative Dermatology

Année:

2001

Langue:

english

Fichier:

PDF, 190 KB

english, 2001

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

Whittock, Neil V., Smith, Frances J., Wan, Hong, Mallipeddi, Rajeev, Griffiths, W. Andrew, Dopping-Hepenstal, Patricia, Ashton, Gabrielle H., Eady, Robin A., McLean, W. H. Irwin, McGrath, John A.

Journal:

The Journal of Investigative Dermatology

Année:

2002

Langue:

english

Fichier:

PDF, 267 KB

english, 2002

Loricrin Mutation in Vohwinkel's Keratoderma Is Unique to the Variant with Ichthyosis.

Korge, Bernhard P., Ishida-Yamamoto, Akemi, Punter, Claudia, Dopping-Hepenstal, Patricia J. C., Iizuka, Hajime, Stephenson, Anthea, Eady, Robin A. J., Munro, Colin S.

Journal:

The Journal of Investigative Dermatology

Année:

1997

Fichier:

PDF, 2.78 MB

1997

A keratin 14 ‘knockout’ mutation in recessive epidermolysis bullosa simplex resulting in less severe disease

K. Batta, E.L. Rugg, N.J. Wilson, N. West, H. Goodyear, E.B. Lane, M. Gratian, P. Dopping-Hepenstal, C. Moss, R.A.J. Eady

Journal:

British Journal of Dermatology

Année:

2000

Langue:

english

Fichier:

PDF, 936 KB

english, 2000

Striate palmoplantar keratoderma arising from desmoplakin and desmoglein 1 mutations is associated with contrasting perturbations of desmosomes and the keratin filament network

H. Wan, P.J.C. Dopping-Hepenstal, M.J. Gratian, M.G. Stone, G. Zhu, P.E. Purkis, A.P. South, F. Keane, D.K.B. Armstrong, R.S. Buxton, J.A. McGrath, R.A.J. Eady

Journal:

British Journal of Dermatology

Année:

2004

Langue:

english

Fichier:

PDF, 614 KB

english, 2004

Transient bullous dermolysis of the newborn in three generations

H. Fassihi, V.C. Diba, V. Wessagowit, P.J.C. Dopping-Hepenstal, C.A. Jones, N.P. Burrows, J.A. McGrath

Journal:

British Journal of Dermatology

Année:

2005

Langue:

english

Fichier:

PDF, 406 KB

english, 2005

Prenatal diagnosis for severe inherited skin disorders: 25 years' experience

H. Fassihi, R.A.J. Eady, J.E. Mellerio, G.H.S. Ashton, P.J.C. Dopping-Hepenstal, J.E. Denyer, K.H. Nicolaides, C.H. Rodeck, J.A. McGrath

Journal:

British Journal of Dermatology

Année:

2006

Langue:

english

Fichier:

PDF, 270 KB

english, 2006

Autosomal dominant junctional epidermolysis bullosa

N. Almaani, L. Liu, P.J.C. Dopping-Hepenstal, P.A. Lovell, J.E. Lai-Cheong, R.M. Graham, J.E. Mellerio, J.A. McGrath

Journal:

British Journal of Dermatology

Année:

2009

Langue:

english

Fichier:

PDF, 346 KB

english, 2009

Compound heterozygous mutations in desmoplakin cause skin fragility and woolly hair

F.J.D. Smith, N.J. Wilson, C. Moss, P. Dopping-Hepenstal, J. McGrath

Journal:

British Journal of Dermatology

Année:

2012

Langue:

english

Fichier:

PDF, 296 KB

english, 2012

Categorizing immunofluorescence mapping in epidermolysis bullosa with pyloric atresia: Use as a broad prognostic indicator

John W Frew, Patricia J Dopping-Hepenstal, John A McGrath

Journal:

Australasian Journal of Dermatology

Année:

2010

Langue:

english

Fichier:

PDF, 67 KB

english, 2010

Potential of Fibroblast Cell Therapy for Recessive Dystrophic Epidermolysis Bullosa

Wong, Tracy, Gammon, Luke, Liu, Lu, Mellerio, Jemima E, Dopping-Hepenstal, Patricia J C, Pacy, John, Elia, George, Jeffery, Rosemary, Leigh, Irene M, Navsaria, Harshad

Journal:

The Journal of Investigative Dermatology

Année:

2008

Langue:

english

Fichier:

PDF, 3.25 MB

english, 2008

Expression in Yeast of Amino-Terminal Peptide Fusions to Hepatitis B Core Antigen and Their Immunological Properties

Beesley, K.M., Francis, M.J., Clarke, B.E., Beesley, J.E., Dopping-Hepenstal, P.J.C., Clare, J.J., Brown, F., Romanos, M.A.

Journal:

Bio/Technology

Année:

1990

Fichier:

PDF, 1.20 MB

1990

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

McLean, W.H.I., Rugg, E.L., Lunny, D.P., Morley, S.M., Lane, E.B., Swensson, O., Dopping-Hepenstal, P.J.C., Griffiths, W.A.D., Eady, R.A.J., Higgins, C.

Journal:

Nature Genetics

Année:

1995

Fichier:

PDF, 870 KB

1995

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

Hunt, Debbie M, Rickman, Lisa, Whittock, Neil V, Eady, Robin AJ, Šimrak, Danijela, Dopping-Hepenstal, Patricia JC, Stevens, Howard P, Armstrong, D Keith B, Hennies, Hans Christian, Küster, Wolfgang

Journal:

European Journal of Human Genetics

Année:

2001

Langue:

english

Fichier:

PDF, 118 KB

english, 2001

Complete Maternal Isodisomy of Chromosome 3 in a Child with Recessive Dystrophic Epidermolysis Bullosa but No Other Phenotypic Abnormalities

Fassihi, Hiva, Lu, Liu, Wessagowit, Vesarat, Ozoemena, Linda C, Jones, Catherine A, Dopping-Hepenstal, Patricia J C, Foster, Lesley, Atherton, David J, Mellerio, Jemima E, McGrath, John A

Journal:

The Journal of Investigative Dermatology

Année:

2006

Langue:

english

Fichier:

PDF, 130 KB

english, 2006

Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin

Katharine Forrest, Jemima E. Mellerio, Stephanie Robb, Patricia J.C. Dopping-Hepenstal, John A. McGrath, Lu Liu, Stefan J.A. Buk, Safa Al-Sarraj, Elizabeth Wraige, Heinz Jungbluth

Journal:

Neuromuscular Disorders

Année:

2010

Langue:

english

Fichier:

PDF, 288 KB

english, 2010

Descemet's membrane in the iridocorneal-endothelial syndrome: Morphology and composition

S.G. Levy, A.C.E. McCartney, H. Sawada, P.J.C. Dopping-Hepenstal, R.A. Alexander, J. Moss

Journal:

Experimental Eye Research

Année:

1995

Langue:

english

Fichier:

PDF, 3.72 MB

english, 1995

Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis

P. David Kelsell, E. Elizabeth Norgett, Harriet Unsworth, Muy-Teck Teh, Thomas Cullup, Charles A. Mein, J. Patricia Dopping-Hepenstal, A. Beverly Dale, Gianluca Tadini, Philip Fleckman, G. Karen Steph

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 3.06 MB

english, 2005

Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility

John A. McGrath, Kristina L. Stone, Rumena Begum, Michael A. Simpson, Patricia J. Dopping-Hepenstal, Lu Liu, James R. McMillan, Andrew P. South, Celine Pourreyron, W.H. Irwin McLean, Anna E. Martinez,

Journal:

The American Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 906 KB

english, 2012

Neonatal diagnosis of Kindler syndrome

Fassihi, Hiva, Wessagowit, Vesarat, Jones, Catherine, Dopping-Hepenstal, Patricia, Denyer, Jackie, Mellerio, Jemima E., Clark, Sheila, McGrath, John A.

Journal:

Journal of Dermatological Science

Année:

2005

Langue:

english

Fichier:

PDF, 201 KB

english, 2005

Single nucleotide polymorphism in a commonly utilized LAMB3 primer sequence: Implications for mutation detection and haplotype analysis in junctional epidermolysis bullosa

Liu, Lu, Choy, Yew Sing, Wessagowit, Vesarat, Ozoemena, Linda, Dopping-Hepenstal, Patricia J.C., Fassihi, Hiva, McGrath, John A.

Journal:

Journal of Dermatological Science

Année:

2006

Langue:

english

Fichier:

PDF, 370 KB

english, 2006

Transmission Electron Microscopy for the Diagnosis of Epidermolysis Bullosa

Eady, Robin A.J., Dopping-Hepenstal, Patricia J.C.

Journal:

Dermatologic Clinics

Année:

2010

Langue:

english

Fichier:

PDF, 3.90 MB

english, 2010

Electron microscopic changes in the osteoid of patients with fibrogenesis imperfecta ossium

Ali, S.Y., Ralphs, J., Dopping-Hepenstal, P., Stamp, T.C.B.

Journal:

Bone

Année:

1986

Langue:

english

Fichier:

PDF, 162 KB

english, 1986

Ultrastructural features of the osteoid of patients with fibrogenesis imperfecta ossium

Ralphs, J.R., Stamp, T.C.B., Dopping-Hepenstal, P.J.C., Ali, S.Y.

Journal:

Bone

Année:

1989

Langue:

english

Fichier:

PDF, 1.10 MB

english, 1989

The composition of wide-spaced collagen in normal and diseased Descemet's membrane

Levy, Simon G., Moss, Jilly, Sawada, Hajime, Dopping-Hepenstal, Patricia J.C., McCartney, Alison C.E.

Journal:

Current Eye Research

Année:

1996

Langue:

english

Fichier:

PDF, 964 KB

english, 1996

[Institution of Engineering and Technology IET Seminar on UAVs in the Civilian Airspace - London, UK (22 March 2013)] IET Seminar on UAVs in the Civilian Airspace - Integrating UAS into airspace - the view from ASTRAEA

Dopping-Hepenstal, L.

Année:

2013

Langue:

english

Fichier:

PDF, 1.45 MB

english, 2013

The Missense Mutation p.R1303Q in Type XVII Collagen Underlies Junctional Epidermolysis Bullosa Resembling Kindler Syndrome

Has, Cristina, Kiritsi, Dimitra, Mellerio, Jemima E, Franzke, Claus-Werner, Wedgeworth, Emma, Tantcheva-Poor, Iliana, Kernland-Lang, Kristin, Itin, Peter, Simpson, Michael A, Dopping-Hepenstal, Patric

Journal:

The Journal of Investigative Dermatology

Année:

2014

Langue:

english

Fichier:

PDF, 3.24 MB

english, 2014

Keratin 9 Is Required for the Structural Integrity and Terminal Differentiation of the Palmoplantar Epidermis

Fu, Dun Jack, Thomson, Calum, Lunny, Declan P, Dopping-Hepenstal, Patricia J, McGrath, John A, Smith, Frances J D, Irwin McLean, W H, Pedrioli, Deena M Leslie

Journal:

The Journal of Investigative Dermatology

Année:

2014

Langue:

english

Fichier:

PDF, 14.49 MB

english, 2014

A functional "knockout" of human keratin 14.

Rugg, E L, McLean, W H, Lane, E B, Pitera, R, McMillan, J R, Dopping-Hepenstal, P J, Navsaria, H A, Leigh, I M, Eady, R A

Journal:

Genes & Development

Année:

1994

Langue:

english

Fichier:

PDF, 2.35 MB

english, 1994

Effect of Patterned Surfaces of Adhesive Islands on the Shape, Cytoskeleton, Adhesion and Behaviour of Swiss Mouse 3T3 Fibroblasts

IRELAND, G. W., DOPPING-HEPENSTAL, P., JORDAN, P., O'NEILL, C.

Journal:

Journal of Cell Science

Année:

1987

Langue:

english

Fichier:

PDF, 10.86 MB

english, 1987

The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen

van den Akker, P. C., Mellerio, J. E., Martinez, A. E., Liu, L., Meijer, R., Dopping-Hepenstal, P. J. C., van Essen, A. J., Scheffer, H., Hofstra, R. M. W., McGrath, J. A., Jonkman, M. F.

Journal:

Journal of Medical Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 528 KB

english, 2011

Identical Glycine Substitution Mutations in Type VII Collagen May Underlie Both Dominant and Recessive Forms of Dystrophic Epidermolysis Bullosa

McGrath, JA, Almaani, N, Liu, L, Dopping-Hepenstal, PJ, Lai-Cheong, JE, Wong, A, Nanda, A, Moss, C, Martinéz, AE, Mellerio, JE

Journal:

Acta Dermato Venereologica

Année:

2011

Langue:

english

Fichier:

PDF, 4.24 MB

english, 2011

Revertant Mosaicism in Recessive Dystrophic Epidermolysis Bullosa

Almaani, Noor, Nagy, Nikoletta, Liu, Lu, Dopping-Hepenstal, Patricia J C, Lai-Cheong, Joey E, Clements, Suzanne E, Techanukul, Tanasit, Tanaka, Akio, Mellerio, Jemima E, McGrath, John A

Journal:

The Journal of Investigative Dermatology

Année:

2010

Langue:

english

Fichier:

PDF, 2.50 MB

english, 2010

A Homozygous Nonsense Mutation within the Dystonin Gene Coding for the Coiled-Coil Domain of the Epithelial Isoform of BPAG1 Underlies a New Subtype of Autosomal Recessive Epidermolysis Bullosa Simplex

Groves, Richard W, Liu, Lu, Dopping-Hepenstal, Patricia J, Markus, Hugh S, Lovell, Patricia A, Ozoemena, Linda, Lai-Cheong, Joey E, Gawler, Jeffrey, Owaribe, Katsushi, Hashimoto, Takashi, Mellerio, Je

Journal:

The Journal of Investigative Dermatology

Année:

2010

Langue:

english

Fichier:

PDF, 1.35 MB

english, 2010

Autosomal Recessive Epidermolysis Bullosa Simplex Due to Loss of BPAG1-e Expression

Liu, Lu, Dopping-Hepenstal, Patricia J, Lovell, Patricia A, Michael, Magdalene, Horn, Helen, Fong, Kenneth, Lai-Cheong, Joey E, Mellerio, Jemima E, Parsons, Maddy, McGrath, John A

Journal:

The Journal of Investigative Dermatology

Année:

2012

Langue:

english

Fichier:

PDF, 4.32 MB

english, 2012

Homozygous Mutations in the 5′ Region of the JUP Gene Result in Cutaneous Disease but Normal Heart Development in Children

Cabral, Rita M, Liu, Lu, Hogan, Carol, Dopping-Hepenstal, Patricia J C, Winik, Beatriz C, Asial, Raúl A, Dobson, Richard, Mein, Charles A, Baselaga, Patricia A, Mellerio, Jemima E, Nanda, Arti, Boente

Journal:

The Journal of Investigative Dermatology

Année:

2010

Langue:

english

Fichier:

PDF, 2.39 MB

english, 2010

Mutations in the Rod 1A Domain of Keratins 1 and 10 in Bullous Congenital Ichthyosiform Erythoderma (BCIE).

McLean, W. H. Irwin, Eady, Robin A. J., Dopping-Hepenstal, Patricia J. C., McMillan, James R., Leigh, Irene M., Navsaria, Harshad A., Higgins, Caroline, Harper, John I., Paige, David G., Morley, Susan

Journal:

The Journal of Investigative Dermatology

Année:

1994

Langue:

english

Fichier:

PDF, 8.52 MB

english, 1994

G28 A Novel Missense Mutation in Keratin 1 Underlying Clinically Mild Epidermolytic Ichthyosis Mimicking Epidermolysis Bullosa Simplex Superficialis

MacKenzie, A., Dopping-Hepenstal, P., Ozoemena, L., Liu, L., Stone, K., Simpson, M., McGrath, J., Martinez, A., Mellerio, J.

Journal:

Archives of Disease in Childhood

Année:

2013

Langue:

english

Fichier:

PDF, 60 KB

english, 2013