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1

A consensus approach to wound care in epidermolysis bullosa

Pope, Elena, Lara-Corrales, Irene, Mellerio, Jemima, Martinez, Anna, Schultz, Gregory, Burrell, Robert, Goodman, Laurie, Coutts, Patricia, Wagner, John, Allen, Upton, Sibbald, Gary

Journal:

Journal of the American Academy of Dermatology

Year:

2012

Language:

english

File:

PDF, 226 KB

english, 2012

2

Extracutaneous manifestations and complications of inherited epidermolysis bullosa: Part I. Epithelial associated tissues

Jo-David Fine, Jemima E. Mellerio

Journal:

Journal of the American Academy of Dermatology

Year:

2009

Language:

english

File:

PDF, 497 KB

english, 2009

3

Extracutaneous manifestations and complications of inherited epidermolysis bullosa: Part II. Other organs

Jo-David Fine, Jemima E. Mellerio

Journal:

Journal of the American Academy of Dermatology

Year:

2009

Language:

english

File:

PDF, 403 KB

english, 2009

4

Infection and Colonization in Epidermolysis Bullosa

Mellerio, Jemima E.

Journal:

Dermatologic Clinics

Year:

2010

Language:

english

File:

PDF, 301 KB

english, 2010

5

Ectodermal dysplasia-skin fragility syndrome: two new cases and review of this desmosomal genodermatosis

Doolan, Brent J., Gomaa, Nesrin S., Fawzy, Mohamed M., Dogheim, Noha N., Liu, Lu, Mellerio, Jemima E., Onoufriadis, Alexandros, McGrath, John A.

Journal:

Experimental Dermatology

Year:

2020

File:

PDF, 3.41 MB

2020

6

Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases

Mellerio, Jemima E., El Hachem, Maya, Bellon, Nathalia, Zambruno, Giovanna, Buckova, Hana, Autrata, Rudolf, Salavastru, Carmen, Caldaro, Tamara, Greco, Celine, Has, Cristina, Bodemer, Christine

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 2.17 MB

2020

7

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:

Year:

1998

Language:

english

File:

PDF, 304 KB

english, 1998

8

The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations

Peter C. van den Akker, Marcel F. Jonkman, Trebor Rengaw, Leena Bruckner-Tuderman, Cristina Has, Johann W. Bauer, Alfred Klausegger, Giovanna Zambruno, Daniele Castiglia, Jemima E. Mellerio, John A. M

Journal:

Year:

2011

Language:

english

File:

PDF, 353 KB

english, 2011

9

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

Year:

1998

Language:

english

File:

PDF, 353 KB

english, 1998

10

Allelic Heterogeneity of Dominant and Recessive COL7A1 Mutations Underlying Epidermolysis Bullosa Pruriginosa

Mellerio, Jemima E., Ashton, Gabrielle H. S., Mohammedi, Rafik, Lyon, Calum C., Kirby, Brian, Harman, Karen E., Salas-Alanis, Julio C., Atherton, David J., Harrison, Phillip V., Griffiths, W. Andrew D

Journal:

The Journal of Investigative Dermatology

Year:

1999

Language:

english

File:

PDF, 205 KB

english, 1999

11

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

Year:

1999

Language:

english

File:

PDF, 342 KB

english, 1999

12

An unusual case of epidermolysis bullosa complicated by persistent oligoarticular juvenile idiopathic arthritis; lessons to be learned

Despoina Maritsi, Anna E Martinez, Jemima E Mellerio, Despina Eleftheriou, Clarissa A Pilkington

Journal:

Pediatric Rheumatology

Year:

2011

Language:

english

File:

PDF, 730 KB

english, 2011

13

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

Year:

1997

File:

PDF, 1.58 MB

1997

14

Pediatric Dermatology, 3rd Edition

Jemima E. Mellerio

Journal:

Clinical and Experimental Dermatology

Year:

2004

Language:

english

File:

PDF, 31 KB

english, 2004

15

Medical management of epidermolysis bullosa: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005

Jemima E. Mellerio, Madeline Weiner, Jacqueline E. Denyer, Elizabeth I. Pillay, Anne W. Lucky, Anna Bruckner, Francis Palisson

Journal:

International Journal of Dermatology

Year:

2007

Language:

english

File:

PDF, 1.45 MB

english, 2007

16

Surgical management of epidermolysis bullosa: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005

Richard G. Azizkhan, Jacqueline E. Denyer, Jemima E. Mellerio, Robinson González, Magdalena Bacigalupo, Arturo Kantor, Gianfranco Passalacqua, Francis Palisson, Anne W. Lucky

Journal:

International Journal of Dermatology

Year:

2007

Language:

english

File:

PDF, 1.70 MB

english, 2007

17

Basic science of epidermolysis bullosa and diagnostic and molecular characterization: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005

Ellen G. Pfendner, Anna Bruckner, Paulette Conget, Jemima Mellerio, Francis Palisson, Anne W. Lucky

Journal:

International Journal of Dermatology

Year:

2007

Language:

english

File:

PDF, 267 KB

english, 2007

18

Review article: Perioperative care of patients with epidermolysis bullosa: proceedings of the 5th international symposium on epidermolysis bullosa, Santiago Chile, December 4–6, 2008

KENNETH GOLDSCHNEIDER, ANNE W. LUCKY, JEMIMA E. MELLERIO, FRANCIS PALISSON, MARIA Del CARMEN VIÑUELA MIRANDA, RICHARD G. AZIZKHAN

Journal:

Pediatric Anesthesia

Year:

2010

Language:

english

File:

PDF, 401 KB

english, 2010

19

Congenital Anetoderma in a Preterm Infant

E. Mary Wain, Jemima E. Mellerio, Alistair Robson, David J. Atherton

Journal:

Pediatric Dermatology

Year:

2008

Language:

english

File:

PDF, 318 KB

english, 2008

20

Dilated Cardiomyopathy in Epidermolysis Bullosa: A Retrospective, Multicenter Study

Irene Lara-Corrales, Jemima E. Mellerio, Anna E. Martinez, Adrian Green, Anne W. Lucky, Richard G. Azizkhan, Dedee F. Murrell, Anna L. Agero, Paul F. Kantor, Elena Pope

Journal:

Pediatric Dermatology

Year:

2010

Language:

english

File:

PDF, 97 KB

english, 2010

21

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

Year:

2008

Language:

english

File:

PDF, 3.25 MB

english, 2008

22

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

Year:

2006

Language:

english

File:

PDF, 130 KB

english, 2006

23

A Heterozygous Frameshift Mutation in the V1 Domain of Keratin 5 in a Family with Dowling–Degos Disease

Liao, Haihui, Zhao, Yiwei, Baty, David U, McGrath, John A, Mellerio, Jemima E, McLean, W H Irwin

Journal:

The Journal of Investigative Dermatology

Year:

2006

Language:

english

File:

PDF, 124 KB

english, 2006

24

Warts in children: diagnosis and current treatment options

Noor Almaani, Ai-Lean Chew, Jemima Mellerio

Journal:

Year:

2008

Language:

english

File:

PDF, 778 KB

english, 2008

25

Progress in epidermolysis bullosa: summary of a workshop in CILAD-2010

Julio Cesar Salas-Alanis, Rodrigo Cepeda-Valdes, Jemima E. Mellerio, Angela M. Christiano, Jouni Uitto

Journal:

International Journal of Dermatology

Year:

2012

Language:

english

File:

PDF, 175 KB

english, 2012

26

Gastrostomy Tube Feeding in Children with Epidermolysis Bullosa: Consideration of Key Issues

Lesley Haynes, Jemima E. Mellerio, Anna E. Martinez

Journal:

Pediatric Dermatology

Year:

2012

Language:

english

File:

PDF, 140 KB

english, 2012

27

The incidence of Meibomian gland dysfunction in children with epidermolysis bullosa

Sophie M. Jones, Kate A.V. Smith, Jemima Mellerio, Anna Martinez, Ken K. Nischal

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2007

Language:

english

File:

PDF, 48 KB

english, 2007

28

The incidence of orthoptic complications in patients with epidermolysis bullosa

Kate A.V. Smith, Sophie M. Jones, Jemima Mellerio, Anna Martinez, Ken K. Nischal

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2007

Language:

english

File:

PDF, 47 KB

english, 2007

29

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

Year:

2010

Language:

english

File:

PDF, 288 KB

english, 2010

30

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

Year:

2005

Language:

english

File:

PDF, 201 KB

english, 2005

31

The IVth International Symposium on Epidermolysis Bullosa, Santiago, Chile, 27–29 September 2007

Lucky, Anne W., Palisson, Francis, Mellerio, Jemima E.

Journal:

Journal of Dermatological Science

Year:

2008

Language:

english

File:

PDF, 423 KB

english, 2008

32

A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita

Liao, Haihui, Sayers, Jane M., Wilson, Neil J., Irvine, Alan D., Mellerio, Jemima E., Baselga, Eulalia, Bayliss, Susan J., Uliana, Vera, Fimiani, Michele, Lane, E. Birgitte, McLean, W.H. Irwin, Leachm

Journal:

Journal of Dermatological Science

Year:

2007

Language:

english

File:

PDF, 912 KB

english, 2007

33

Plakophilin 1: Partial genomic organisation and mutations resulting in ectodermal dysplasia/skin fragility syndrome

McGrath, John A., McMillan, James R., Hoeger, Peter H., Mellerio, Jemima E., Ashton, Gabrielle H.S., Harper, John I., Eady, Robin A.J.

Journal:

Journal of Dermatological Science

Year:

1998

Language:

english

File:

PDF, 210 KB

english, 1998

34

Type VII collagen gene (COL7A1) mutation screening in recessive dystrophic epidermolysis bullosa using the protein truncation test

Whittock, Neil V, Mathew, Christopher, McGrath, John A, Eady, Robin AJ, Mellerio, Jemima E, Abbs, Stephen

Journal:

Journal of Dermatological Science

Year:

1998

Language:

english

File:

PDF, 176 KB

english, 1998

35

Osteopenia and Osteoporosis in Epidermolysis Bullosa

Martinez, Anna E., Mellerio, Jemima E.

Journal:

Dermatologic Clinics

Year:

2010

Language:

english

File:

PDF, 136 KB

english, 2010

36

Genitourinary Tract Involvement in Epidermolysis Bullosa

Almaani, Noor, Mellerio, Jemima E.

Journal:

Dermatologic Clinics

Year:

2010

Language:

english

File:

PDF, 451 KB

english, 2010

37

Epidermolysis Bullosa Care in the United Kingdom

Mellerio, Jemima E.

Journal:

Dermatologic Clinics

Year:

2010

Language:

english

File:

PDF, 66 KB

english, 2010

38

Epithelial Inflammation Resulting from an Inherited Loss-of-Function Mutation in EGFR

Campbell, Patrick, Morton, Penny E, Takeichi, Takuya, Salam, Amr, Roberts, Nerys, Proudfoot, Laura E, Mellerio, Jemima E, Aminu, Kingi, Wellington, Cheryl, Patil, Sachin N, Akiyama, Masashi, Liu, Lu,

Journal:

The Journal of Investigative Dermatology

Year:

2014

Language:

english

File:

PDF, 1.73 MB

english, 2014

39

Serum levels of high mobility group box 1 correlate with disease severity in recessive dystrophic epidermolysis bullosa

Petrof, Gabriela, Abdul-Wahab, Alya, Proudfoot, Laura, Pramanik, Rashida, Mellerio, Jemima E., McGrath, John A.

Journal:

Experimental Dermatology

Year:

2013

Language:

english

File:

PDF, 244 KB

english, 2013

40

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

Year:

2014

Language:

english

File:

PDF, 3.24 MB

english, 2014

41

HB-EGF Induces COL7A1 Expression in Keratinocytes and Fibroblasts: Possible Mechanism Underlying Allogeneic Fibroblast Therapy in Recessive Dystrophic Epidermolysis Bullosa

Nagy, Nikoletta, Almaani, Noor, Tanaka, Akio, Lai-Cheong, Joey E, Techanukul, Tanasit, Mellerio, Jemima E, McGrath, John A

Journal:

The Journal of Investigative Dermatology

Year:

2011

Language:

english

File:

PDF, 217 KB

english, 2011

42

Potential of Systemic Allogeneic Mesenchymal Stromal Cell Therapy for Children with Recessive Dystrophic Epidermolysis Bullosa

Petrof, Gabriela, Lwin, Su M, Martinez-Queipo, Magdalena, Abdul-Wahab, Alya, Tso, Simon, Mellerio, Jemima E, Slaper-Cortenbach, Ineke, Boelens, Jaap J, Tolar, Jakub, Veys, Paul, Ofuya, Mercy, Peacock,

Journal:

The Journal of Investigative Dermatology

Year:

2015

Language:

english

File:

PDF, 2.00 MB

english, 2015

43

Harlequin Ichthyosis

Rajpopat, Shefali, Moss, Celia, Mellerio, Jemima, Vahlquist, Anders, Gånemo, Agneta, Hellstrom-Pigg, Maritta, Ilchyshyn, Andrew, Burrows, Nigel, Lestringant, Giles, Taylor, Aileen, Kennedy, Cameron, P

Journal:

Archives of Dermatology

Year:

2011

Language:

english

File:

PDF, 88 KB

english, 2011

44

Immunofluorescence antigen mapping for hereditary epidermolysis bullosa

Rao, Raghavendra, Mellerio, Jemima, Groves, Richard, Bhogal, BalbirS

Journal:

Indian Journal of Dermatology Venereology and Leprology

Year:

2012

Language:

english

File:

PDF, 1.19 MB

english, 2012

45

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

Year:

2010

Language:

english

File:

PDF, 2.50 MB

english, 2010

46

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

Year:

2012

Language:

english

File:

PDF, 4.32 MB

english, 2012

47

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

Year:

2010

Language:

english

File:

PDF, 2.39 MB

english, 2010

48

Moderation of Phenotypic Severity in Dystrophic and Junctional Forms of Epidermolysis Bullosa Through In-Frame Skipping of Exons Containing Non-Sense or Frameshift Mutations

McGrath, John A., Ashton, Gabrielle H. S., Mellerio, Jemima E., Salas-Alanis, Julio Cesar, Swensson, Ole, McMillan, James R., Eady, Robin A. J.

Journal:

The Journal of Investigative Dermatology

Year:

1999

Language:

english

File:

PDF, 405 KB

english, 1999

49

Fluoroscopically Guided Dilation of Esophageal Strictures in Patients With Dystrophic Epidermolysis Bullosa: Long-Term Results

Spiliopoulos, Stavros, Sabharwal, Tarun, Krokidis, Miltiadis, Gkoutzios, Panagiotis, Mellerio, Jemima, Dourado, Renato, Adam, Andreas

Journal:

American Journal of Roentgenology

Year:

2012

Language:

english

File:

PDF, 625 KB

english, 2012

50

Phase I Study Protocol for Ex Vivo Lentiviral Gene Therapy for the Inherited Skin Disease, Netherton Syndrome

Di, Wei-Li, Mellerio, Jemima E., Bernadis, Catina, Harper, John, Abdul-Wahab, Alya, Ghani, Sumera, Chan, Lucas, Martinez-Queipo, Magdalena, Hara, Havinder, McNicol, Anne-Marie, Farzaneh, Farzin, McGra

Journal:

Human Gene Therapy Clinical Development

Year:

2013

Language:

english

File:

PDF, 377 KB

english, 2013

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