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Judith Fischer

Ärztin

Name	Judith Fischer
Ort	Deutschland
Geschlecht	weiblich
Akademischer Grad bzw. Titel	Prof. Dr. med.
Beruf	Ärztin (charakteristischer Beruf)
Variante	J. Fischer
Weitere Angaben	Leiterin des Instituts für Humangenetik, Universitätsklinikum Freiburg
Quelle	FreiDok plus
Datensatztyp	Person
GND-Nummer	1175519529
Datensatz-ID	1175519529
Beteiligt an alle anzeigen Autosomal dominant lamellar ichthyosis due to a missense mutation in the gene NKPD1 CRISPR-Cas12a for highly efficient and marker-free targeted integration in human pluripotent stem cells Erythrokeratodermia variabilis-like phenotype in patients carrying ABCA12 mutations Hereditary epidermolytic palmoplantar keratosis due to a novel desmoglein‐1 mutation: a case report Syndromic ichthyoses Acral lamellar ichthyosis with amino acid substitution in the C‐terminus of keratin 2 Epidemiology of inherited Epidermolysis bullosa in Germany Lipoid proteinosis: Novel ECM1 pathogenic variants and intrafamilial variability in four unrelated Arab families Mutational spectrum of the ABCA12 gene and genotype–phenotype correlation in a cohort of 64 patients with autosomal recessive congenital ichthyosis Seltene Form der Epidermolysis bullosa simplex mit homozygoter Mutation im Gen EXPH5 Case report: Diagnostic and therapeutic challenges in severe mechanobullous epidermolysis bullosa acquisita Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation First description of inheritance of a postzygotic OPA1 mosaic variant Proposal for a 6‐step approach for differential diagnosis of neonatal erythroderma Quality of life and clinical characteristics of self‐improving congenital ichthyosis within the disease spectrum of autosomal recessive congenital ichthyosis A novel SPINK5 donor splice site variant in a child with Netherton syndrome Fatal neonatal DOLK-CDG as a rare form of syndromic ichthyosis Hautfragilität, Nierenfehlbildungen und interstitielle Lungenerkrankung aufgrund von compound‐heterozygoten ITGA3‐Mutationen High rate of self‐improving phenotypes in children with non‐syndromic congenital ichthyosis: case series from south‐western Germany Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome Marfan syndrome caused by disruption of the FBN1 gene due to a reciprocal chromosome translocation Maternal isodisomy of chromosome 3 combined with a de novo mutation in the ABHD5 gene causes autosomal recessive Chanarin-Dorfman syndrome Meta-analysis of mutations in ALOX12B or ALOXE3 identified in a large cohort of 224 patients Molekulargenetische Diagnostik bei erblichem Brust- und Eierstockkrebs Plantar involvement correlates with obesity, pain and impaired mobility in epidermolysis bullosa simplex: a retrospective cohort study Porokeratosis plantaris, palmaris et disseminata caused by con- genital pathogenic variants in the MVD gene and loss of heterozygosity in affected skin Skin fragility, renal malformation and interstitial lung disease due to compound heterozygous ITGA3 mutations The importance of extended analysis using current molecular genetic methods based on the example of a cohort of 228 patients with hereditary breast and ovarian cancer syndrome Vitamin D status in distinct types of ichthyosis : : importance of genetic type and severity of scaling A family with palmar and plantar hyperkeratosis: a quiz Gene mutation mapping in a fatal case of phacomatosis pigmentokeratotica happle Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4 Genetics of inherited ichthyoses and related diseases Identification of a novel missense mutation in NIPAL4 gene: first 3D model construction predicted its pathogenicity Modeling MyD88 deficiency in vitro provides new insights in Its function Modeling MyD88 deficiency In vitro provides new insights in its function Neonatal presentation of COG6‐CDG with prominent skin phenotype Painful skin swelling after water contact Schmerzhafte Hautschwellung nach Wasserkontakt Chorea-Acanthocytosis presenting as autosomal recessive epilepsy in a family with a novel VPS13A mutation Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4 Tazarotene 0.015% cream as a potential topical agent for management of ichthyosis in Dorfman-Chanarin syndrome Ichthyosis with Confetti inherited from a mosaic father Inherited nonsyndromic ichthyoses: an update on pathophysiology, diagnosis and treatment The position of targeted next-generation sequencing in epidermolysis bullosa diagnosis Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment PNPLA1 deficiency in mice and humans leads to a defect in the synthesis of omega-o-acylceramides Target-sequence capture and high throughput sequencing identify a De novo CARD14 mutation in an infant with erythrodermic pityriasis rubra pilaris

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Katalog der Deutschen Nationalbibliothek

Judith Fischer

Autosomal dominant lamellar ichthyosis due to a missense mutation in the gene NKPD1

CRISPR-Cas12a for highly efficient and marker-free targeted integration in human pluripotent stem cells

Erythrokeratodermia variabilis-like phenotype in patients carrying ABCA12 mutations

Hereditary epidermolytic palmoplantar keratosis due to a novel desmoglein‐1 mutation: a case report

Syndromic ichthyoses

Acral lamellar ichthyosis with amino acid substitution in the C‐terminus of keratin 2

Epidemiology of inherited Epidermolysis bullosa in Germany

Lipoid proteinosis: Novel ECM1 pathogenic variants and intrafamilial variability in four unrelated Arab families

Mutational spectrum of the ABCA12 gene and genotype–phenotype correlation in a cohort of 64 patients with autosomal recessive congenital ichthyosis

Seltene Form der Epidermolysis bullosa simplex mit homozygoter Mutation im Gen EXPH5

Case report: Diagnostic and therapeutic challenges in severe mechanobullous epidermolysis bullosa acquisita

Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation

First description of inheritance of a postzygotic OPA1 mosaic variant

Proposal for a 6‐step approach for differential diagnosis of neonatal erythroderma

Quality of life and clinical characteristics of self‐improving congenital ichthyosis within the disease spectrum of autosomal recessive congenital ichthyosis

A novel SPINK5 donor splice site variant in a child with Netherton syndrome

Fatal neonatal DOLK-CDG as a rare form of syndromic ichthyosis

Hautfragilität, Nierenfehlbildungen und interstitielle Lungenerkrankung aufgrund von compound‐heterozygoten ITGA3‐Mutationen

High rate of self‐improving phenotypes in children with non‐syndromic congenital ichthyosis: case series from south‐western Germany

Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome

Marfan syndrome caused by disruption of the FBN1 gene due to a reciprocal chromosome translocation

Maternal isodisomy of chromosome 3 combined with a de novo mutation in the ABHD5 gene causes autosomal recessive Chanarin-Dorfman syndrome

Meta-analysis of mutations in ALOX12B or ALOXE3 identified in a large cohort of 224 patients

Molekulargenetische Diagnostik bei erblichem Brust- und Eierstockkrebs

Plantar involvement correlates with obesity, pain and impaired mobility in epidermolysis bullosa simplex: a retrospective cohort study

Porokeratosis plantaris, palmaris et disseminata caused by con- genital pathogenic variants in the MVD gene and loss of hetero­zygosity in affected skin

Skin fragility, renal malformation and interstitial lung disease due to compound heterozygous ITGA3 mutations

The importance of extended analysis using current molecular genetic methods based on the example of a cohort of 228 patients with hereditary breast and ovarian cancer syndrome

Vitamin D status in distinct types of ichthyosis : : importance of genetic type and severity of scaling

A family with palmar and plantar hyperkeratosis: a quiz

Gene mutation mapping in a fatal case of phacomatosis pigmentokeratotica happle

Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4

Genetics of inherited ichthyoses and related diseases

Identification of a novel missense mutation in NIPAL4 gene: first 3D model construction predicted its pathogenicity

Modeling MyD88 deficiency in vitro provides new insights in Its function

Modeling MyD88 deficiency In vitro provides new insights in its function

Neonatal presentation of COG6‐CDG with prominent skin phenotype

Painful skin swelling after water contact

Schmerzhafte Hautschwellung nach Wasserkontakt

Chorea-Acanthocytosis presenting as autosomal recessive epilepsy in a family with a novel VPS13A mutation

Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4

Tazarotene 0.015% cream as a potential topical agent for management of ichthyosis in Dorfman-Chanarin syndrome

Ichthyosis with Confetti inherited from a mosaic father

Inherited nonsyndromic ichthyoses: an update on pathophysiology, diagnosis and treatment

The position of targeted next-generation sequencing in epidermolysis bullosa diagnosis

Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment

PNPLA1 deficiency in mice and humans leads to a defect in the synthesis of omega-o-acylceramides

Target-sequence capture and high throughput sequencing identify a De novo CARD14 mutation in an infant with erythrodermic pityriasis rubra pilaris

Porokeratosis plantaris, palmaris et disseminata caused by con- genital pathogenic variants in the MVD gene and loss of heterozygosity in affected skin