Prenatal diagnosis for severe inherited skin disorders: 25 years' experience. (Q36364756)

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15 January 2020

title

Prenatal diagnosis for severe inherited skin disorders: 25 years' experience (English)

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9

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author name string

Fassihi H

1

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15 January 2020

Eady RA

2

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Mellerio JE

3

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Ashton GH

4

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15 January 2020

Dopping-Hepenstal PJ

5

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15 January 2020

Denyer JE

6

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Nicolaides KH

7

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Rodeck CH

8

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language of work or name

English

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publication date

1 January 2006

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British Journal of Dermatology

15 January 2020

published in

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volume

154

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15 January 2020

page(s)

106-113

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issue

1

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Prenatal diagnosis of epidermolysis bullosa letalis

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cites work

1 reference

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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

21 January 2018

1 reference

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Preimplantation genetic diagnosis

21 January 2018

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Progress in epidermolysis bullosa: genetic classification and clinical implications

21 January 2018

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Expression of integrin alpha 6 beta 4 in junctional epidermolysis bullosa

21 January 2018

1 reference

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Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa.

21 January 2018

1 reference

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

21 January 2018

1 reference

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Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3)

21 January 2018

1 reference

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The Molecular Mechanics of Quantized Valence Bonds

21 January 2018

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Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome

21 January 2018

1 reference

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EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA-based prenatal diagnosis.

21 January 2018

1 reference

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Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome

21 January 2018

1 reference

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Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.

21 January 2018

1 reference

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Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa

21 January 2018

1 reference

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Infant morbidity following amniocentesis and chorionic villus sampling for prenatal karyotyping.

21 January 2018

1 reference

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Is there an ethical difference between preimplantation genetic diagnosis and abortion?

21 January 2018

1 reference

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10.1111/J.1365-2133.2005.07012.X

21 January 2018

Identifiers

DOI

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15 January 2020

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