Eady, Robin : rechercher sur Z-Library

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1

A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis

Alan R. Thornhill, John A. McGrath, Robin A. J. Eady, Peter R. Braude, Alan H. Handyside

Journal:

Prenatal Diagnosis

Année:

2001

Langue:

english

Fichier:

PDF, 120 KB

english, 2001

2

Hemidesmosome ontogeny in digit skin of the human fetus

James R. McMillan, Robin A. J. Eady

Journal:

Archives of Dermatological Research

Année:

1996

Langue:

english

Fichier:

PDF, 490 KB

english, 1996

3

Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification

Fine, Jo-David, Bruckner-Tuderman, Leena, Eady, Robin A.J., Bauer, Eugene A., Bauer, Johann W., Has, Cristina, Heagerty, Adrian, Hintner, Helmut, Hovnanian, Alain, Jonkman, Marcel F., Leigh, Irene, Ma

Journal:

Journal of the American Academy of Dermatology

Année:

2014

Langue:

english

Fichier:

PDF, 681 KB

english, 2014

4

Ultrastructural Clues to Genetic Disorders of Skin: The Dermal-Epidermal Junction.

Eady, Robin A. J., McGrath, John A., McMillan, James R.

Journal:

The Journal of Investigative Dermatology

Année:

1994

Langue:

english

Fichier:

PDF, 7.23 MB

english, 1994

5

Heparan sulphate proteoglycan and wound healing in skin

McGrath, John A., Eady, Robin A. J.

Journal:

The Journal of Pathology

Année:

1997

Langue:

english

Fichier:

PDF, 27 KB

english, 1997

6

Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex

Laura D. Corden, Jemima E. Mellerio, Matthew J. Gratian, Robin A. J. Eady, John I. Harper, Marc Lacour, Gareth Magee, E. Birgitte Lane, John A. McGrath, W. H. Irwin McLean

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 304 KB

english, 1998

7

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

Alan R. Thornhill, Susan J. Pickering, Neil V. Whittock, Jenny Caller, Vicky Andritsos, Helen E. Bickerstaff, Alan H. Handyside, Robin A. J. Eady, Peter R. Braude, John A. McGrath

Journal:

Prenatal Diagnosis

Année:

2000

Langue:

english

Fichier:

PDF, 253 KB

english, 2000

8

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

9

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

Whittock, Neil V., Wan, Hong, Eady, Robin A.J., Morley, Susan M., Garzon, Maria C., Kristal, Leonard, Hyde, Patrice, Irwin McLean, W.H., Pulkkinen, Leena, Uitto, Juoni, Christiano, Angela M., McGrath,

Journal:

The Journal of Investigative Dermatology

Année:

2002

Langue:

english

Fichier:

PDF, 439 KB

english, 2002

10

Sequential Reorganization of Cornified Cell Keratin Filaments Involving Filaggrin-Mediated Compaction and Keratin 1 Deimination

Ishida-Yamamoto, Akemi, Senshu, Tatsuo, Eady, Robin A.J., Takahashi, Hidetoshi, Shimizu, Hiroshi, Akiyama, Masashi, Iizuka, Hajime

Journal:

The Journal of Investigative Dermatology

Année:

2002

Langue:

english

Fichier:

PDF, 267 KB

english, 2002

11

Severe Palmo-Plantar Hyperkeratosis in Dowling–Meara Epidermolysis Bullosa Simplex Caused by a Mutation in the Keratin 14 Gene (KRT14)

Shemanko, Carrie S, Mellerio, Jemima E, Tidman, Michael J, Lane, E Birgitte, Eady, Robin A J

Journal:

The Journal of Investigative Dermatology

Année:

1998

Langue:

english

Fichier:

PDF, 353 KB

english, 1998

12

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

Whittock, Neil V, Ashton, Gabrielle H S, Mohammedi, Rafik, Mellerio, Jemima E, Mathew, Christopher G, Abbs, Stephen J, Eady, Robin A J, McGrath, John A

Journal:

The Journal of Investigative Dermatology

Année:

1999

Langue:

english

Fichier:

PDF, 342 KB

english, 1999

13

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

14

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

15

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

Whittock, Neil V., Coleman, Carrie M., McLean, W. H. Irwin, Ashton, Gabrielle H. S., Acland, K. M., Eady, Robin A. J., McGrath, John A.

Journal:

The Journal of Investigative Dermatology

Année:

2000

Langue:

english

Fichier:

PDF, 271 KB

english, 2000

16

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

Whittock, Neil V., Haftek, Marek, Angoulvant, Nathalie, Wolf, Francois, Perrot, Henri, Eady, Robin A. J., McGrath, John A.

Journal:

The Journal of Investigative Dermatology

Année:

2000

Langue:

english

Fichier:

PDF, 617 KB

english, 2000

17

Mutant Loricrin is Not Crosslinked into the Cornified Cell Envelope but is Translocated into the Nucleus in Loricrin Keratoderma

Ishida-Yamamoto, Akemi, Kato, Hidemasa, Kiyama, Hiroshi, Armstrong, D Keith B, Munro, Colin S, Eady, Robin A J, Nakamura, Satoshi, Kinouchi, Motoshi, Takahashi, Hidetoshi, Iizuka, Hajime

Journal:

The Journal of Investigative Dermatology

Année:

2000

Langue:

english

Fichier:

PDF, 364 KB

english, 2000

18

The DEBRA International Visioning/Consensus Meeting on Epidermolysis Bullosa: Summary and Recommendations

Uitto, Jouni, Eady, Robin, Fine, Jo-David, Feder, Miriam, Dart, John

Journal:

The Journal of Investigative Dermatology

Année:

2000

Langue:

english

Fichier:

PDF, 59 KB

english, 2000

19

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

20

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

21

Alterations in Desmosome Size and Number Coincide with the Loss of Keratinocyte Cohesion in Skin with Homozygous and Heterozygous Defects in the Desmosomal Protein Plakophilin 1

McMillan, James R, Haftek, Marek, Akiyama, Masashi, South, Andrew P, Perrot, Henri, McGrath, John A, Eady, Robin AJ, Shimizu, Hiroshi

Journal:

The Journal of Investigative Dermatology

Année:

2003

Langue:

english

Fichier:

PDF, 2.67 MB

english, 2003

22

Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: Implications for prenatal diagnosis in one family

John A. McGrath, James R. McMillan, M. Giles S. Dunnill, Leena Pulkkinen, Angela M. Christiano, Charles H. Rodeck, Robin A. J. Eady, Dr. Jouni Uitto

Journal:

Prenatal Diagnosis

Année:

1995

Langue:

english

Fichier:

PDF, 836 KB

english, 1995

23

Evaluation of Anchoring Fibrils and Other Components of the Dermal-Epidermal Junction in Dystrophic Epidermolysis Bullosa by a Quantitative Ultrastructural Technique.

Tidman, Michael J., Eady, Robin A. J.

Journal:

The Journal of Investigative Dermatology

Année:

1985

Fichier:

PDF, 1.78 MB

1985

24

Ultrastructural Morphometry of Normal Human Dermal-Epidermal Junction. The Influence of Age, Sex, and Body Region on Laminar and Nonlaminar Components.

Tidman, Michael J., Eady, Robin A. J.

Journal:

The Journal of Investigative Dermatology

Année:

1984

Fichier:

PDF, 2.45 MB

1984

25

Hemidesmosome Heterogeneity in Junctional Epidermolysis Bullosa Revealed by Morphometric Analysis.

Tidman, Michael J., Eady, Robin A. J.

Journal:

The Journal of Investigative Dermatology

Année:

1986

Fichier:

PDF, 2.97 MB

1986

26

Bullous Pemphigoid and Cicatricial Pemphigoid Autoantibodies React with Ultrastructurally Separable Epitopes on the BP180 Ectodomain: Evidence that BP180 Spans the Lamina Lucida

Bédane, Christophe, McMillan, James R, Balding, Shawn D, Bernard, Philippe, Prost, Catherine, Bonnetblanc, Jean-Marie, Diaz, Luis A, Eady, Robin A J, Giudice, George J

Journal:

The Journal of Investigative Dermatology

Année:

1997

Fichier:

PDF, 2.75 MB

1997

27

Recurrent Mutations in the Type VII Collagen Gene (COL7A1) in Patients with Recessive Dystrophic Epidermolysis Bullosa.

Mellerio, Jemima E., Dunnill, M. Giles S., Allison, Waridibe, Ashton, Gabrielle H. S., Christiano, Angela M., Uitto, Jouni, Eady, Robin A. J., McGrath, John A.

Journal:

The Journal of Investigative Dermatology

Année:

1997

Fichier:

PDF, 1.58 MB

1997

28

Clinicopathological Correlations of Compound Heterozygous COL7A1 Mutations in Recessive Dystrophic Epidermolysis Bullosa.

Dunnill, M. Giles S., McGrath, John A., Richards, Allan J., Christiano, Angela M., Uitto, Jouni, Pope, F. Michael, Eady, Robin A. J.

Journal:

The Journal of Investigative Dermatology

Année:

1996

Fichier:

PDF, 2.41 MB

1996

29

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

30

Compound Heterozygosity for Nonsense and Missense Mutations in the LAMB3 Gene in Nonlethal Junctional Epidermolysis Bullosa.

McGrath, John A., Christiano, Angela M., Pulkkinen, Leena, Eady, Robin A.J., Uitto, Jouni

Journal:

The Journal of Investigative Dermatology

Année:

1996

Fichier:

PDF, 1.15 MB

1996

31

Compound Heterozygosity for Nonsense and Missense Mutations in the LAMB3 Gene in Nonlethal Junctional Epidermolysis Bullosa.

Christiano, Angela M., Pulkkinen, Leena, Eady, Robin A.J., Uitto, Jouni

Journal:

The Journal of Investigative Dermatology

Année:

1996

Fichier:

PDF, 1.13 MB

1996

32

Rapid Prenatal Diagnosis and Exclusion of Epidermolysis Bullosa Using Novel Antibody Probes.

Heagerty, Adrian H. M., Kennedy, Andrew R., Gunner, David B., Eady, Robin A. J.

Journal:

The Journal of Investigative Dermatology

Année:

1986

Fichier:

PDF, 1.23 MB

1986

33

Nicein (BM-600) in Junctional Epidermolysis Bullosa: Polyclonal Antibodies Provide New Clues for Pathogenic Role.

Verrando, Patrick, Schofield, Olivia, Ishida-Yamamoto, Akemi, Aberdam, Daniel, Partouche, Odile, Eady, Robin A. J., Ortonne, Jean-Paul

Journal:

The Journal of Investigative Dermatology

Année:

1993

Fichier:

PDF, 2.58 MB

1993

34

Structural Variations in Anchoring Fibrils in Dystrophic Epidermolysis Bullosa: Correlation with Type VII Collagen Expression.

McGrath, John A., Ishida-Yamamoto, Akemi, O'Grady, Anthony, Leigh, Irene M., Eady, Robin A. J.

Journal:

The Journal of Investigative Dermatology

Année:

1993

Fichier:

PDF, 4.05 MB

1993

35

Prenatal Diagnosis of Dominant and Recessive Dystrophic Epidermolysis Bullosa: Application and Limitations in the Use of KF-1 and LH 7:2 Monoclonal Antibodies and Immunofluorescence Mapping Technique.

Fine, Jo-David, Eady, Robin A. J., Levy, Moise L., Hejtmancik, J. Fielding, Courtney, Kristine B., Carpenter, Robert J., Holbrook, Karen A., Hawkins, Hal K.

Journal:

The Journal of Investigative Dermatology

Année:

1988

Fichier:

PDF, 3.64 MB

1988

36

Epidermolysis Bullosa Simplex (Dowling-Meara Type) Is a Genetic Disease Characterized by an Abnormal Keratin-Filament Network Involving Keratins K5 and K14.

Ishida-Yamamoto, Akemi, McGrath, John A., Chapman, Stephen J., Leigh, Iren M., Lane, E. Birgitte, Eady, Robin A. J.

Journal:

The Journal of Investigative Dermatology

Année:

1991

Fichier:

PDF, 5.93 MB

1991

37

A Microscopic Study of Inflammatory Reactions in Human Skin Induced by Histamine and Compound 48/80.

James, Martin P., Kennedy, Andrew R., Eady, Robin A. J.

Journal:

The Journal of Investigative Dermatology

Année:

1982

Fichier:

PDF, 4.49 MB

1982

38

Prenatal Diagnosis of Oculocutaneous Albinism by Electron Microscopy of Fetal Skin.

Eady, Robin A. J., Gunner, David B., Garner, Alec, Rodeck, Charles H.

Journal:

The Journal of Investigative Dermatology

Année:

1983

Fichier:

PDF, 1.84 MB

1983

39

Type VII Collagen is a Normal Component of Epidermal Basement Membrane, Which Shows Altered Expression in Recessive Dystrophic Epidermolysis Bullosa.

Leigh, Irene M., Eady, Robin A. J., Heagerty, Adrian H. M., Purkis, Patricia E., Whitehead, Philip A., Burgeson, Robert E.

Journal:

The Journal of Investigative Dermatology

Année:

1988

Fichier:

PDF, 924 KB

1988

40

Selective Involvement of Keratins K1 and K10 in the Cytoskeletal Abnormality of Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma).

Ishida-Yamamoto, Akemi, McGrath, John A., Judge, Mary R., Leigh, Irene M., Lane, E. Birgitte, Eady, Robin A. J.

Journal:

The Journal of Investigative Dermatology

Année:

1992

Fichier:

PDF, 5.41 MB

1992

41

Production of Rabbit Antibodies Against Carboxy-Terminal Epitopes Encoded by Bullous Pemphigoid cDNA.

Tanaka, Toshihiro, Korman, Neil J., Shimizu, Hiroshi, Eady, Robin A. J., Klaus-Kovtun, Vera, Cehrs, Kerstin, Stanley, John R.

Journal:

The Journal of Investigative Dermatology

Année:

1990

Fichier:

PDF, 1.57 MB

1990

42

Reduced Expression of Insulin-Like Growth Factor-Binding Protein-3 (IGFBP-3) in Squamous Cell Carcinoma Complicating Recessive Dystrophic Epidermolysis Bullosa

Mallipeddi, Rajeev, Wessagowit, Vesarat, South, Andrew P., Robson, Alistair M., Orchard, Guy E., Eady, Robin A. J., McGrath, John A.

Journal:

The Journal of Investigative Dermatology

Année:

2004

Langue:

english

Fichier:

PDF, 635 KB

english, 2004

43

The mast cells distribution and morphology

ROBIN A.J. EADY

Journal:

Clinical and Experimental Dermatology

Année:

1976

Langue:

english

Fichier:

PDF, 3.52 MB

english, 1976

44

A case of ? epidermolysis bullosa

PETER GOODWIN, ROBIN EADY

Journal:

Clinical and Experimental Dermatology

Année:

1977

Langue:

english

Fichier:

PDF, 1.02 MB

english, 1977

45

Mutations in the 180–kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa

McGrath, John A., Gatalica, Biljana, Christiano, Angela M., si, Kehua, Owaribe, Katsushi, McMillan, James R., Eady, Robin A.J., Uitto, Jouni

Journal:

Nature Genetics

Année:

1995

Fichier:

PDF, 672 KB

1995

46

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome

McGrath, John A., McMillan, James R., Shemanko, Carrie S., Runswick, Sarah K., Leigh, Irene M., Lane, E. Birgitte, Garrod, David R., Eady, Robin A.J.

Journal:

Nature Genetics

Année:

1997

Fichier:

PDF, 813 KB

1997

47

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

48

The surgical management of Dystrophic Epidermolysis Bullosa (excluding the hand)

Patricia J. Terrill, Bryan J. Mayou, Philip P. McKee, Robin A. Eady

Journal:

British Journal of Plastic Surgery

Année:

1992

Langue:

english

Fichier:

PDF, 1.29 MB

english, 1992

49

The first report of familial adult T-cell leukaemia lymphoma in the United Kingdom

Estella Matutes, Margaret F. Spittle, Neil P. Smith, Robin A. J. Eady, Daniel Catovsky

Journal:

British Journal of Haematology

Année:

1995

Langue:

english

Fichier:

PDF, 391 KB

english, 1995

50

Epidermolysis Bullosa: To Split and to Clump

Robin A. J. Eady

Journal:

Pediatric Dermatology

Année:

1992

Langue:

english

Fichier:

PDF, 319 KB

english, 1992