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Variations in five genes and the severity of age-related macular degeneration: results from the Muenster aging and retina study

Eye (London), 2009-12, Vol.23 (12), p.2238-2244

2009

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Structural recovery of the retina in a retinoschisin-deficient mouse after gene replacement therapy by solid lipid nanoparticles

Biomaterials, 2016-06, Vol.90, p.40-49

2016

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Solid lipid nanoparticle-based vectors intended for the treatment of X-linked juvenile retinoschisis by gene therapy: In vivo approaches in Rs1h-deficient mouse model

Journal of controlled release, 2015-11, Vol.217, p.273-283

2015

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Identification of an oncostatin M receptor mutation associated with familial primary cutaneous amyloidosis

British journal of dermatology (1951), 2009-10, Vol.161 (4), p.944-947

2009

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Breastfeeding behavior is not associated with health literacy: evidence from the German KUNO-Kids birth cohort study

Archives of gynecology and obstetrics, 2021-11, Vol.304 (5), p.1161-1168

2021

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Lipofuscin- and melanin-related fundus autofluorescence visualize different retinal pigment epithelial alterations in patients with retinitis pigmentosa

Eye (London), 2009-06, Vol.23 (6), p.1349-1359

2009

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Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington’s disease-like phenotype

Journal of medical genetics, 2004-03, Vol.41 (3), p.230-232

2004

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Inherited retinal or optic nerve disorders – five steps to diagnosis

Klinische Monatsblatter fur Augenheilkunde, 2015-03, Vol.232 (3), p.250

2015

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Spontaneous immortalization of neural crest-derived corneal progenitor cells after chromosomal aberration

Cell proliferation, 2010-08, Vol.43 (4), p.372-377

2010

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The role of caspases in photoreceptor cell death of the retinoschisin-deficient mouse

Cytogenetic and genome research, 2006-01, Vol.115 (1), p.35-44

2006

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Humangenetische Diagnostik in der frauenärztlichen Praxis

Geburtshilfe und Frauenheilkunde, 2014-10, Vol.74 (10), p.R55-R73

2014

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Erbliche Netzhaut- und Sehbahnerkrankungen – 5 Schritte zur Diagnose

Klinische Monatsblätter für Augenheilkunde, 2015-03, Vol.232 (3), p.250-258

2015

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Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability

HGG advances, 2023-10, Vol.4 (4), p.100237-100237, Article 100237

2023

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Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease

Human genetics, 1998-01, Vol.102 (1), p.21-26

1998

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PTEN mutations do not cause nuclear β-catenin accumulation in endometrial carcinomas

Human pathology, 2004-10, Vol.35 (10), p.1260-1265

2004

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Mutations in a Novel Gene, VMD2; Encoding a Protein of Unknown Properties Cause Juvenile-Onset Vitelliform Macular Dystrophy (Best's Disease)

Human molecular genetics, 1998-09, Vol.7 (9), p.1517-1525

1998

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cDNA Cloning, Genomic Structure, and Chromosomal Localization of Three Members of the Human Fatty Acid Desaturase Family

Genomics (San Diego, Calif.), 2000-06, Vol.66 (2), p.175-183

2000

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Associations of genetic variants in the estrogen receptor coactivators PPARGC1A, PPARGC1B and EP300 with familial breast cancer

Carcinogenesis (New York), 2006-11, Vol.27 (11), p.2201-2208

2006

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Silk Properties Determined by Gland-Specific Expression of a Spider Fibroin Gene Family

Science (American Association for the Advancement of Science), 1996-04, Vol.272 (5258), p.112-115

1996

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An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

Nature genetics, 1998-07, Vol.19 (3), p.260-263

1998

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Positional cloning of the gene associated with X-linked juvenile retinoschisis

Nature genetics, 1997-10, Vol.17 (2), p.164-170

1997

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Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy

Nature genetics, 1994-12, Vol.8 (4), p.352-356

1994

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Differential diagnosis of primary failure of eruption (PFE) with and without evidence of pathogenic mutations in the PTHR1 gene

Journal of orofacial orthopedics, 2014-05, Vol.75 (3), p.226-239

2014

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Hereditäre Netzhautdystrophien

Klinische Monatsblätter für Augenheilkunde, 2012-02, Vol.229 (2), p.171-196

2012

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Assessment of the contribution of CFH and chromosome 10q26 AMD susceptibility loci in a Russian population isolate

British journal of ophthalmology, 2007-05, Vol.91 (5), p.576-578

2007

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Variations in five genes and the severity of age-related macular degeneration: results from the Muenster aging and retina study

Structural recovery of the retina in a retinoschisin-deficient mouse after gene replacement therapy by solid lipid nanoparticles

Solid lipid nanoparticle-based vectors intended for the treatment of X-linked juvenile retinoschisis by gene therapy: In vivo approaches in Rs1h-deficient mouse model

Identification of an oncostatin M receptor mutation associated with familial primary cutaneous amyloidosis

Breastfeeding behavior is not associated with health literacy: evidence from the German KUNO-Kids birth cohort study

Lipofuscin- and melanin-related fundus autofluorescence visualize different retinal pigment epithelial alterations in patients with retinitis pigmentosa

Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington’s disease-like phenotype

Inherited retinal or optic nerve disorders – five steps to diagnosis

Spontaneous immortalization of neural crest-derived corneal progenitor cells after chromosomal aberration

The role of caspases in photoreceptor cell death of the retinoschisin-deficient mouse

Humangenetische Diagnostik in der frauenärztlichen Praxis

Erbliche Netzhaut- und Sehbahnerkrankungen – 5 Schritte zur Diagnose

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability

Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease

PTEN mutations do not cause nuclear β-catenin accumulation in endometrial carcinomas

Mutations in a Novel Gene, VMD2; Encoding a Protein of Unknown Properties Cause Juvenile-Onset Vitelliform Macular Dystrophy (Best's Disease)

cDNA Cloning, Genomic Structure, and Chromosomal Localization of Three Members of the Human Fatty Acid Desaturase Family

Associations of genetic variants in the estrogen receptor coactivators PPARGC1A, PPARGC1B and EP300 with familial breast cancer

Silk Properties Determined by Gland-Specific Expression of a Spider Fibroin Gene Family

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

Positional cloning of the gene associated with X-linked juvenile retinoschisis

Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy

Differential diagnosis of primary failure of eruption (PFE) with and without evidence of pathogenic mutations in the PTHR1 gene

Hereditäre Netzhautdystrophien

Assessment of the contribution of CFH and chromosome 10q26 AMD susceptibility loci in a Russian population isolate

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