Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn

Acta Dermato Venereologica ◽

10.2340/00015555-3313 ◽

2019 ◽

pp. 0

Author(s):

R Higgins ◽

A Jensen ◽

J Wachstein ◽

L Bruckner-Tuderman ◽

R Spiegel ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Uniparental Disomy ◽

Recessive Mutation ◽

Chromosome 2 ◽

Junctional Epidermolysis Bullosa

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Maternal Uniparental Disomy of Chromosome 1 with Reduction to Homozygosity of the LAMB3 Locus in a Patient with Herlitz Junctional Epidermolysis Bullosa

The American Journal of Human Genetics ◽

10.1086/515524 ◽

1997 ◽

Vol 61 (3) ◽

pp. 611-619 ◽

Author(s):

Leena Pulkkinen ◽

Florencia Bullrich ◽

Paula Czarnecki ◽

Lester Weiss ◽

Jouni Uitto

Keyword(s):

Epidermolysis Bullosa ◽

Uniparental Disomy ◽

Chromosome 1 ◽

Junctional Epidermolysis Bullosa ◽

Maternal Uniparental Disomy

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A Case of Junctional Epidermolysis Bullosa.

Nishi Nihon Hifuka ◽

10.2336/nishinihonhifu.54.7 ◽

1992 ◽

Vol 54 (1) ◽

pp. 7-11

Author(s):

Naomasa NIIMI ◽

Norio NOSO ◽

Eishin MORITA ◽

Satoru YAMADA ◽

Shoso YAMAMOTO

Keyword(s):

Epidermolysis Bullosa ◽

Junctional Epidermolysis Bullosa

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Congenital Cerebellar Malignant Rhabdoid Tumor in an Infant With Junctional Epidermolysis Bullosa

Pediatric and Developmental Pathology ◽

10.2350/06-12-0201 ◽

2006 ◽

Vol preprint (2007) ◽

pp. 1

Author(s):

Henry Krous ◽

Amy Chadwick ◽

Elisabeth Haas ◽

Eric Breisch ◽

Homeyra Masoumi

Keyword(s):

Epidermolysis Bullosa ◽

Rhabdoid Tumor ◽

Malignant Rhabdoid Tumor ◽

Junctional Epidermolysis Bullosa

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Faculty Opinions recommendation of Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1067075.520086 ◽

2007 ◽

Author(s):

Frank de Gruijl

Keyword(s):

Epidermolysis Bullosa ◽

Genetically Modified ◽

Epidermal Stem Cells ◽

Junctional Epidermolysis Bullosa

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Faculty Opinions recommendation of Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1067075.520003 ◽

2007 ◽

Author(s):

Kiyoshi Nishioka

Keyword(s):

Epidermolysis Bullosa ◽

Genetically Modified ◽

Epidermal Stem Cells ◽

Junctional Epidermolysis Bullosa

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Faculty Opinions recommendation of Protein therapeutics for junctional epidermolysis bullosa: incorporation of recombinant beta3 chain into laminin 332 in beta3-/- keratinocytes in vitro.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1097512.553589 ◽

2007 ◽

Author(s):

Johann Bauer

Keyword(s):

Epidermolysis Bullosa ◽

Protein Therapeutics ◽

Junctional Epidermolysis Bullosa ◽

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Faculty Opinions recommendation of Long-term stability and safety of transgenic cultured epidermal stem cells in gene therapy of junctional epidermolysis bullosa.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718355042.793506324 ◽

2015 ◽

Author(s):

Johann Bauer ◽

Ana Sancho

Keyword(s):

Gene Therapy ◽

Epidermolysis Bullosa ◽

Epidermal Stem Cells ◽

Junctional Epidermolysis Bullosa ◽

Term Stability ◽

Long Term Stability

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Faculty Opinions recommendation of Laminin 332-Dependent YAP Dysregulation Depletes Epidermal Stem Cells in Junctional Epidermolysis Bullosa.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.735771421.793563028 ◽

2019 ◽

Author(s):

Karen Echeverri

Keyword(s):

Epidermolysis Bullosa ◽

Epidermal Stem Cells ◽

Junctional Epidermolysis Bullosa ◽

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Faculty Opinions recommendation of Laminin 332-Dependent YAP Dysregulation Depletes Epidermal Stem Cells in Junctional Epidermolysis Bullosa.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.735771421.793562279 ◽

2019 ◽

Author(s):

Cristina Has

Keyword(s):

Epidermolysis Bullosa ◽

Epidermal Stem Cells ◽

Junctional Epidermolysis Bullosa ◽

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Junctional Epidermolysis Bullosa with Pyloric Stenosis Presenting with Electron Microscopic Findings Suggestive of Epidermolysis Bullosa Simplex

Pediatric Dermatology ◽

10.1046/j.1525-1470.2000.017005395.x ◽

2000 ◽

Vol 17 (5) ◽

pp. 395-398 ◽

Author(s):

Norman Wasel ◽

Halliday Idikio ◽

Gordon Lees ◽

Alfons Krol ◽

Andrew N. Lin

Keyword(s):

Pyloric Stenosis ◽

Epidermolysis Bullosa ◽

Epidermolysis Bullosa Simplex ◽

Electron Microscopic ◽

Junctional Epidermolysis Bullosa ◽

Microscopic Findings

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