Ellen G. Pfendner: search on Z-Library

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1

Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1

Frances J. D. Smith, Victor A. McKusick, Karl Nielsen, Ellen Pfendner, Jouni Uitto, W. H. Irwin McLean

Journal:

Prenatal Diagnosis

Year:

1999

Language:

english

File:

PDF, 409 KB

english, 1999

2

Characterization of a highly polymorphic dinucleotide repeat 150 KB proximal to the fragile X site

Gregory J. Riggins, Stephanie L. Sherman, Ben A. Oostra, James S. Sutcliffe, David Feitell, David L. Nelson, Bernard A. Van Oost, Arie P. T. Smits, Feliciano J. Ramos, Ellen Pfendner, Derek P. A. Kuhl

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 529 KB

english, 1992

3

Herlitz Junctional Epidermolysis Bullosa: Novel and Recurrent Mutations in the LAMB3 Gene and the Population Carrier Frequency

Nakano, Aoi, Pfendner, Ellen, Pulkkinen, Leena, Hashimoto, Isao, Uitto, Jouni

Journal:

The Journal of Investigative Dermatology

Year:

2000

Language:

english

File:

PDF, 508 KB

english, 2000

4

Epidermolysis Bullosa Carrier Frequencies in the US Population

Pfendner, Ellen, Uitto, Jouni, Fine, Jo-David

Journal:

The Journal of Investigative Dermatology

Year:

2001

Language:

english

File:

PDF, 53 KB

english, 2001

5

Epidermolytic Hyperkeratosis and Epidermolysis Bullosa Simplex Caused by Frameshift Mutations Altering the V2 Tail Domains of Keratin 1 and Keratin 5

Sprecher, Eli, Yosipovitch, Gil, Bergman, Reuven, Ciubutaro, Dan, Indelman, Margarita, Pfendner, Ellen, Goh, Leok C, Miller, Christopher J, Uitto, Jouni, Richard, Gabriele

Journal:

The Journal of Investigative Dermatology

Year:

2003

Language:

english

File:

PDF, 1.02 MB

english, 2003

6

Prenatal diagnosis for Epidermolysis bullosa: a study of 144 consecutive pregnancies at risk

Ellen G. Pfendner, Aoi Nakano, Leena Pulkkinen, Angela M. Christiano, Jouni Uitto

Journal:

Prenatal Diagnosis

Year:

2003

Language:

english

File:

PDF, 115 KB

english, 2003

7

Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation

Ulrike Schara, Jens Tücke, Wilhelm Mortier, Thomas Nüßlein, Fatima Rouan, Ellen Pfendner, Detlef Zillikens, Leena Bruckner-Tuderman, Jouni Uitto, Gerhard Wiche, Rolf Schröder

Journal:

European Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 300 KB

english, 2004

8

Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs non-Herlitz phenotypes

Aoi Nakano, Sheau-Chiou Chao, Leena Pulkkinen, Dedee Murrell, Leena Bruckner-Tuderman, Ellen Pfendner, Jouni Uitto

Journal:

Year:

2002

Language:

english

File:

PDF, 299 KB

english, 2002

9

Plectin Gene Mutations Can Cause Epidermolysis Bullosa with Pyloric Atresia

Pfendner, Ellen, Uitto, Jouni

Journal:

The Journal of Investigative Dermatology

Year:

2005

Language:

english

File:

PDF, 697 KB

english, 2005

10

Epidermolysis Bullosa Simplex: Recurrent and De Novo Mutations in the KRT5 and KRT14 Genes, Phenotype/Genotype Correlations, and Implications for Genetic Counseling and Prenatal Diagnosis

Ellen G. Pfendner, Sara G. Sadowski, Jouni Uitto

Journal:

Journal of General Internal Medicine

Year:

2005

Language:

english

File:

PDF, 66 KB

english, 2005

11

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

Anne W. Lucky, Ellen Pfendner, Elizabeth Pillay, Judy Paskel, Madeline Weiner, Francis Palisson

Journal:

International Journal of Dermatology

Year:

2007

Language:

english

File:

PDF, 352 KB

english, 2007

12

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

13

What Syndrome Is This?

Caroline Choi Kim, Marilyn G. Liang, Ellen Pfendner, Virginia E. Kimonis

Journal:

Pediatric Dermatology

Year:

2007

Language:

english

File:

PDF, 654 KB

english, 2007

14

Dystrophic Epidermolysis Bullosa with One Dominant and One Recessive Mutation of the COL7A1 Gene in a Child with Deafness

Sarah Weinel, Anne W. Lucky, Jouni Uitto, Ellen G. Pfendner, Daniel Choo

Journal:

Pediatric Dermatology

Year:

2008

Language:

english

File:

PDF, 150 KB

english, 2008

15

Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms

Qiaoli Li, Qiujie Jiang, Ellen Pfendner, András Váradi, Jouni Uitto

Journal:

Experimental Dermatology

Year:

2009

Language:

english

File:

PDF, 1.05 MB

english, 2009

16

Molecular Epidemiology of Hereditary Epidermolysis Bullosa in a Middle Eastern Population

Abu Sa'd, Judeh, Indelman, Margarita, Pfendner, Ellen, Falik-Zaccai, Tzipora C, Mizrachi-Koren, Mordechai, Shalev, Stavit, Amitai, Dani Ben, Raas-Rothshild, Annick, Adir-Shani, Ayelet, Borochowitz, Zv

Journal:

The Journal of Investigative Dermatology

Year:

2006

Language:

english

File:

PDF, 104 KB

english, 2006

17

Retrospective Diagnosis of Fatal BP180-Deficient Non-Herlitz Junctional Epidermolysis Bullosa Suggested by Immunofluorescence (IF) Antigen-Mapping of Parental Carriers Bearing Enamel Defects

Murrell, Dedee F, Pasmooij, Anna M G, Pas, Hendri H, Marr, Penelope, Klingberg, Sandra, Pfendner, Ellen, Uitto, Jouni, Sadowski, Sara, Collins, Felicity, Widmer, Richard, Jonkman, Marcel F

Journal:

The Journal of Investigative Dermatology

Year:

2007

Language:

english

File:

PDF, 142 KB

english, 2007

18

Probing the fetal genome: progress in non-invasive prenatal diagnosis

Jouni Uitto, Ellen Pfendner, Laird G. Jackson

Journal:

Trends in Molecular Medicine

Year:

2003

Language:

english

File:

PDF, 941 KB

english, 2003

19

Junctional epidermolysis bullosa in the Middle East: Clinical and genetic studies in a series of consanguineous families

Aoi Nakano, Gilles G. Lestringant, Tamar Paperna, Reuven Bergman, Ruth Gershoni, Philippe Frossard, Moien Kanaan, Guerrino Meneguzzi, Gabriele Richard, Ellen Pfendner, Jouni Uitto, Leena Pulkkinen, El

Journal:

Journal of the American Academy of Dermatology

Year:

2002

Language:

english

File:

PDF, 613 KB

english, 2002

20

Pseudoxanthoma elasticum: genetic diagnostic markers

Pfendner, Ellen G, Uitto, Jouni, Gerard, Gary F, Terry, Sharon F

Journal:

Expert Opinion on Medical Diagnostics

Year:

2008

Language:

english

File:

PDF, 298 KB

english, 2008

21

PLEC1 Mutations Underlie Adult-Onset Dilated Cardiomyopathy in Epidermolysis Bullosa Simplex with Muscular Dystrophy

Bolling, Maria C, Pas, Hendri H, de Visser, Marianne, Aronica, Eleonora, Pfendner, Ellen G, van den Berg, Maarten P, Diercks, Gilles F H, Suurmeijer, Albert J H, Jonkman, Marcel F

Journal:

The Journal of Investigative Dermatology

Year:

2010

Language:

english

File:

PDF, 2.31 MB

english, 2010

22

Epidermolysis Bullosa Carrier Frequencies in the US Population

Pfendner, Ellen, Uitto, Jouni, Fine, Jo-David

Journal:

The Journal of Investigative Dermatology

Year:

2001

Language:

english

File:

PDF, 53 KB

english, 2001

23

Epidermolysis Bullosa Simplex in Israel

Ciubotaru, Dan, Bergman, Reuven, Baty, David, Indelman, Margarita, Pfendner, Ellen, Petronius, Danny, Moualem, Hannah, Kanaan, Moien, Amitai, Danny Ben, McLean, W. H. Irwin, Uitto, Jouni, Sprecher, El

Journal:

Archives of Dermatology

Year:

2003

Language:

english

File:

PDF, 194 KB

english, 2003

24

Epidermolysis Bullosa with Congenital Pyloric Atresia: Novel Mutations in the β4 Integrin Gene (ITGB4) and Genotype/Phenotype Correlations

Nakano, Aoi, Pulkkinen, Leena, Murrell, Dedee, Rico, Joyce, Lucky, Anne W, Garzon, Maria, Stevens, Cathy A, Robertson, Stephen, Pfendner, Ellen, Uitto, Jouni

Journal:

Pediatric Research

Year:

2001

File:

PDF, 4.47 MB

2001

25

Epidermolysis Bullosa with Congenital Pyloric Atresia: Novel Mutations in the β4 Integrin Gene (ITGB4) and Genotype/Phenotype Correlations

Nakano, Aoi, Pulkkinen, Leena, Murrell, Dedee, Rico, Joyce, Lucky, Anne W, Garzon, Maria, Stevens, Cathy A, Robertson, Stephen, Pfendner, Ellen, Uitto, Jouni

Journal:

Pediatric Research

Year:

2001

Language:

english

File:

PDF, 4.47 MB

english, 2001

26

Disorganization of the Desmin Cytoskeleton and Mitochondrial Dysfunction in Plectin-Related Epidermolysis Bullosa Simplex with Muscular Dystrophy

Schröder, Rolf, Kunz, Wolfram S., Rouan, Fatima, Pfendner, Ellen, Tolksdorf, Karen, Kappes-Horn, Karin, Altenschmidt-Mehring, Manuela, Knoblich, Rupert, van der Ven, Peter F.M., Reimann, Jens, Fürst,

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

2002

Language:

english

File:

PDF, 1006 KB

english, 2002

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