UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 55

Sortiert nach

Absence of R42X and R635X mutations in the LAMB3 gene in 12 Japanese patients with junctional epidermolysis bullosa

Archives of Dermatological Research, 1997-02, Vol.289 (3), p.174-176

1997

Link zum Volltext

Verfügbarkeit prüfen

Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry

American journal of medical genetics. Part A, 2021-11, Vol.185 (11), p.3390-3400

2021

Link zum Volltext

Verfügbarkeit prüfen

Clinical phenotypes and ABCC6 gene mutations in Brazilian families with pseudoxanthoma elasticum

Acta dermato-venereologica, 2013-11, Vol.93 (6), p.739-740

2013

Link zum Volltext

Verfügbarkeit prüfen

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

Prenatal diagnosis, 1999-10, Vol.19 (10), p.941-946

1999

Link zum Volltext

Verfügbarkeit prüfen

Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene

British journal of dermatology (1951), 2012-05, Vol.166 (5), p.1107-1111

2012

Link zum Volltext

Verfügbarkeit prüfen

Darier disease - novel mutations in ATP2A2 and genotype-phenotype correlation

Experimental dermatology, 2001-02, Vol.10 (1), p.19-27

2001

Link zum Volltext

Verfügbarkeit prüfen

A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa

Archives of Dermatological Research, 2000-04, Vol.292 (4), p.159-163

2000

Link zum Volltext

Verfügbarkeit prüfen

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

Human mutation, 1995, Vol.6 (1), p.77-84

1995

Link zum Volltext

Verfügbarkeit prüfen

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

Journal of neuropathology and experimental neurology, 2002-06, Vol.61 (6), p.520-530

2002

Link zum Volltext

Verfügbarkeit prüfen

Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro

Experimental dermatology, 2003-04, Vol.12 (2), p.191-197

2003

Link zum Volltext

Verfügbarkeit prüfen

Early intra-amniotic gene transfer using lentiviral vector improves skin blistering phenotype in a murine model of Herlitz junctional epidermolysis bullosa

Gene therapy, 2012-05, Vol.19 (5), p.561-569

2012

Link zum Volltext

Verfügbarkeit prüfen

Elastic fibre abnormalities in skin disorders: What's new?

Journal of the European Academy of Dermatology and Venereology, 2001-07, Vol.15 (4), p.303-304

Uitto, J

2001

Link zum Volltext

Verfügbarkeit prüfen

Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants

Journal of medical genetics, 2006-08, Vol.43 (8), p.641-652

2006

Link zum Volltext

Verfügbarkeit prüfen

Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes

Journal of medical genetics, 2007-03, Vol.44 (3), p.181-192

2007

Link zum Volltext

Verfügbarkeit prüfen

Epidermolysis Bullosa, Pyloric Atresia, and Obstructive Uropathy: A Report of Two Case Reports with Molecular Correlation and Clinical Management

Pediatric dermatology, 2000-07, Vol.17 (4), p.286-289

2000

Link zum Volltext

Verfügbarkeit prüfen

Epidermolysis bullosa simplex associated with muscular dystrophy: Phenotype-genotype correlations and review of the literature

Journal of the American Academy of Dermatology, 1999-12, Vol.41 (6), p.950-956

1999

Link zum Volltext

Verfügbarkeit prüfen

Epidermolysis bullosa simplex in Israel: clinical and genetic features

Archives of dermatology (1960), 2003-04, Vol.139 (4), p.498

2003

Link zum Volltext

Verfügbarkeit prüfen

Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations

Pediatric research, 2001-05, Vol.49 (5), p.618-626

2001

Link zum Volltext

Verfügbarkeit prüfen

Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis

British journal of dermatology (1951), 2017-08, Vol.177 (2), p.342-343

2017

Link zum Volltext

Verfügbarkeit prüfen

First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru

Clinical and experimental dermatology, 2018-08, Vol.43 (6), p.719-722

2018

Link zum Volltext

Verfügbarkeit prüfen

First trimester DNA-based exclusion of recessive dystrophic epidermolysis bullosa from chorionic villus sampling

British journal of dermatology (1951), 1996-04, Vol.134 (4), p.734-739

1996

Link zum Volltext

Verfügbarkeit prüfen

Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: Implications for prenatal diagnosis in one family

Prenatal diagnosis, 1995-07, Vol.15 (7), p.647-654

1995

Link zum Volltext

Verfügbarkeit prüfen

Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils

The Journal of clinical investigation, 1992-03, Vol.89 (3), p.974-980

1992

Link zum Volltext

Verfügbarkeit prüfen

Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis

British journal of dermatology (1951), 2020-03, Vol.182 (3), p.729-737

2020

Link zum Volltext

Verfügbarkeit prüfen

GGCX mutations in a patient with overlapping pseudoxanthoma elasticum/cutis laxa‐like phenotype

British journal of dermatology (1951), 2021-06, Vol.184 (6), p.1170-1174

2021

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 55

Suche als RSS-Feed

Aktive Filter

KollektionTaylor & Francis

PublikationsformBerichte

Nur zeigenMit Volltextzugriff

KollektionOvid Full Text Journals

ThemaMutation

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(54)

Publikationsform

Artikel
(55)

Sprache

Englisch
(55)
Japanisch
(11)

Erscheinungsjahr

n.n

Thema

Humans
(52)
Life Sciences & Biomedicine
(45)
Science & Technology
(45)
Dermatology
(38)
Biological And Medical Sciences
(28)
Medical Sciences
(28)
Female
(23)
Phenotype
(16)
Male
(15)
Pedigree
(14)
Polymerase Chain Reaction
(14)
Bullous Diseases Of The Skin
(13)
Dna Mutational Analysis
(13)
Base Sequence
(11)
Epidermolysis Bullosa
(11)
Epidermolysis Bullosa Dystrophica - Genetics
(11)
Epidermolysis Bullosa, Junctional - Genetics
(10)
Genetics & Heredity
(10)
Adult
(9)

14 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Absence of R42X and R635X mutations in the LAMB3 gene in 12 Japanese patients with junctional epidermolysis bullosa

Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry

Clinical phenotypes and ABCC6 gene mutations in Brazilian families with pseudoxanthoma elasticum

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

Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene

Darier disease - novel mutations in ATP2A2 and genotype-phenotype correlation

A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa

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

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

Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro

Early intra-amniotic gene transfer using lentiviral vector improves skin blistering phenotype in a murine model of Herlitz junctional epidermolysis bullosa

Elastic fibre abnormalities in skin disorders: What's new?

Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants

Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes

Epidermolysis Bullosa, Pyloric Atresia, and Obstructive Uropathy: A Report of Two Case Reports with Molecular Correlation and Clinical Management

Epidermolysis bullosa simplex associated with muscular dystrophy: Phenotype-genotype correlations and review of the literature

Epidermolysis bullosa simplex in Israel: clinical and genetic features

Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations

Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis

First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru

First trimester DNA-based exclusion of recessive dystrophic epidermolysis bullosa from chorionic villus sampling

Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: Implications for prenatal diagnosis in one family

Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils

Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis

GGCX mutations in a patient with overlapping pseudoxanthoma elasticum/cutis laxa‐like phenotype

Aktive Filter

Suchergebnisse filtern