(Q34137855)

31 July 2017

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title

Prenatal diagnosis for inherited skin diseases (English)

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31 July 2017

Ashton GH

1

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31 July 2017

Eady RA

series ordinal

2

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31 July 2017

McGrath JA

series ordinal

3

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31 July 2017

publication date

1 November 2000

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31 July 2017

published in

Clinics in Dermatology

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31 July 2017

volume

18

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31 July 2017

issue

6

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31 July 2017

page(s)

643-648

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Prenatal diagnosis of epidermolysis bullosa letalis

31 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0738-081X%2800%2900153-X

7 January 2021

Prenatal diagnosis of epidermolysis bullosa dystrophica Hallopeau-Siemens with electron microscopy of fetal skin

1 reference

https://api.crossref.org/works/10.1016%2FS0738-081X%2800%2900153-X

7 January 2021

Rapid prenatal diagnosis and exclusion of epidermolysis bullosa using novel antibody probes

1 reference

https://api.crossref.org/works/10.1016%2FS0738-081X%2800%2900153-X

7 January 2021

Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing

1 reference

https://api.crossref.org/works/10.1016%2FS0738-081X%2800%2900153-X

7 January 2021

DNA-Based Prenatal Diagnosis of Generalized Recessive Dystrophic Epidermolysis Bullosa in Six Pregnancies at Risk for Recurrence

1 reference

https://api.crossref.org/works/10.1016%2FS0738-081X%2800%2900153-X

7 January 2021

A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk

1 reference

https://api.crossref.org/works/10.1016%2FS0738-081X%2800%2900153-X

7 January 2021

Identification of a homozygous one-basepair deletion in exon 14 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence

1 reference

https://api.crossref.org/works/10.1016%2FS0738-081X%2800%2900153-X

7 January 2021

Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1)

1 reference

https://api.crossref.org/works/10.1016%2FS0738-081X%2800%2900153-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0738-081X%2800%2900153-X

7 January 2021

Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1)

1 reference

https://api.crossref.org/works/10.1016%2FS0738-081X%2800%2900153-X

7 January 2021

Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5)

1 reference

https://api.crossref.org/works/10.1016%2FS0738-081X%2800%2900153-X

7 January 2021

A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS0738-081X%2800%2900153-X

7 January 2021

A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS0738-081X%2800%2900153-X

7 January 2021

DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex

1 reference

https://api.crossref.org/works/10.1016%2FS0738-081X%2800%2900153-X

7 January 2021

Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk

1 reference

https://api.crossref.org/works/10.1016%2FS0738-081X%2800%2900153-X

7 January 2021

Prenatal diagnosis of lamellar ichthyosis by direct mutational analysis of the keratinocyte transglutaminase gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0738-081X%2800%2900153-X

7 January 2021

OMIM passes the 1,000-disease-gene mark

1 reference

https://api.crossref.org/works/10.1016%2FS0738-081X%2800%2900153-X

7 January 2021

Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS0738-081X%2800%2900153-X

7 January 2021

Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS0738-081X%2800%2900153-X

7 January 2021

X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

1 reference

https://api.crossref.org/works/10.1016%2FS0738-081X%2800%2900153-X

7 January 2021

Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0738-081X%2800%2900153-X

7 January 2021

Preimplantation genetic diagnosis of severe inherited skin diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0738-081X%2800%2900153-X

7 January 2021

10.1016/S0738-081X(00)00153-X

Identifiers

DOI

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31 July 2017

1 reference