T. Rosenberg

发表

RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa.

R. Roepman, R. Kirschner, T. Rosenberg, 1999, Human molecular genetics.

Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohort.

Yi-Ju Li, D. Mackey, C. Ki, 2010, Investigative ophthalmology & visual science.

Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia.

S. Jacobson, B. Lorenz, T. Rosenberg, 2002, American journal of human genetics.

Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia.

E. Zrenner, T. Rosenberg, B. Jurklies, 2011, Human molecular genetics.

Increasing the complexity: new genes and new types of albinism

Wei Li, T. Rosenberg, S. Riazuddin, 2014, Pigment cell & melanoma research.

A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.

T. Rosenberg, S. Bhattacharya, H. Eiberg, 2002, Investigative ophthalmology & visual science.

Novel compound heterozygous NMNAT 1 variants associated with Leber congenital amaurosis

Frans, Susanne, B. J. Klevering, 2017 .

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis

B. J. Klevering, A. D. den Hollander, T. Rosenberg, 2014, Molecular vision.

A novel founder BBS1 mutation explains a unique high prevalence of Bardet–Biedl syndrome in the Faroe Islands

T. Rosenberg, K. Brøndum‐Nielsen, K. Grønskov, 2008, British Journal of Ophthalmology.

A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome.

T. Rosenberg, A. Frederiksen, M. Duno, 2013, Gene.

Dominant optic atrophy in Denmark – report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%

M. Larsen, T. Rosenberg, H. Eiberg, 2012, BMC Medical Genetics.

Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.

H. Fledelius, T. Rosenberg, D. Schorderet, 2011, American journal of human genetics.

A nationwide Danish study of 1027 cases of congenital/infantile cataracts: etiological and clinical classifications.

H. Fledelius, T. Rosenberg, M. Melbye, 2004, Ophthalmology.

Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.

B. Wilhelm, E. Zrenner, T. Rosenberg, 2020, JAMA ophthalmology.

Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP).

A. Rosenthal, M. Platzer, R. Roepman, 1996, Human molecular genetics.

Identification of a novel locus for a USH3 like syndrome combined with congenital cataract

T. Thykjær, T. Rosenberg, T Rosenberg, 2010, Clinical genetics.

A syndrome with retinitis pigmentosa, progressive hearing impairment, vestibular dysfunction, and congenital cataract.

T. Rosenberg, A. Parving, 2009, Acta ophthalmologica Scandinavica. Supplement.

Mutations of FBN1 and genotype–phenotype correlations in Marfan syndrome and related fibrillinopathies

P. Robinson, T. Rosenberg, L. Neumann, 2002, Human mutation.

Leber hereditary optic neuropathy due to a new ND1 mutation

T. Rosenberg, J. Vissing, M. Duno, 2017, Ophthalmic genetics.

Comorbidity in patients with branch retinal vein occlusion: case-control study

M. Larsen, T. Rosenberg, A. Linneberg, 2012, BMJ : British Medical Journal.

North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.

Adam P. DeLuca, S Scott Whitmore, Adam P DeLuca, 2016, Ophthalmology.

Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy.

D. Mackey, T. Rosenberg, A. Harding, 1996, American journal of human genetics.

N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population.

T. Rosenberg, M. Schwartz, P. Garred, 2007, Molecular vision.

Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.

M. Larsen, T. Rosenberg, R. Allikmets, 2014, Investigative ophthalmology & visual science.

Heterozygous missense mutation in the rod cGMP phosphodiesterase β–subunit gene in autosomal dominant stationary night blindness

T. Rosenberg, E. Schwinger, W. Baehr, 1994, Nature Genetics.

Integrity of the cone photoreceptor mosaic in oligocone trichromacy.

Jungtae Rha, Rigmor C Baraas, John D Mollon, 2011, Investigative ophthalmology & visual science.

Oligocone trichromacy: clinical and molecular genetic investigations.

M. Larsen, T. Rosenberg, B. Wissinger, 2010, Investigative ophthalmology & visual science.

Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome

S. Kreiborg, Z. Tümer, N. Tommerup, 2005, American journal of medical genetics. Part A.

Exome Sequence Analysis of 14 Families With High Myopia

T. Rosenberg, Derek M. Pavelec, T. Young, 2017, Investigative ophthalmology & visual science.

Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family

D. Mackey, T. Rosenberg, P. Calvas, 2011, Molecular vision.

Differential effect of FBN1 mutations on in vitro proteolysis of recombinant fibrillin-1 fragments

P. Robinson, T. Rosenberg, C. Hagemeier, 2000, Human Genetics.

Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet–Biedl syndrome patients

V. Sheffield, C. Rotimi, A. Adeyemo, 2008, American journal of medical genetics. Part A.

Risk for cancer in patients with Bardet‐Biedl syndrome and their relatives

J. Olsen, T. Rosenberg, K. Brøndum‐Nielsen, 2007, American journal of medical genetics. Part A.

Population-based risk estimates of Wilms tumor in sporadic aniridia

J. Olsen, T. Rosenberg, K. Brøndum‐Nielsen, 2001, Human Genetics.

Corrigendum: Heterozygous missense mutation in the rod cGMP phosphodiesterase β–subunit gene in autosomal dominant stationary night blindness

T. Rosenberg, E. Schwinger, W. Baehr, 1994, Nature Genetics.

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

P. Sieving, S. Jacobson, R. Salati, 2022, Human mutation.

Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.

E. Zrenner, T. Rosenberg, C. Wolf, 2008, Investigative ophthalmology & visual science.

Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy: data from a national center in Denmark.

D. Sharon, T. Rosenberg, L. Mizrahi-Meissonnier, 2012, American journal of ophthalmology.

The effect of acetazolamide on passive and active transport of fluorescein across the blood-retina barrier in retinitis pigmentosa complicated by macular oedema

M. Larsen, H. Lund‐Andersen, T. Rosenberg, 1998, Graefe's Archive for Clinical and Experimental Ophthalmology.

Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)

S. Mundlos, N. Tommerup, T. Rosenberg, 2005, Journal of Medical Genetics.

Autosomal dominant stationary night‐blindness A large family rediscovered

T. Rosenberg, S. E. Simonsen, M. Haim, 1991, Acta ophthalmologica.

Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy

T. Rosenberg, M. Schwartz, M. Duno, 2012, Ophthalmic genetics.

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

A. Green, I. Kaitila, R. Hennekam, 2010, European Journal of Human Genetics.

An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber’s congenital amaurosis

T. Rosenberg, T. Bek, M. Preising, 2003, The British journal of ophthalmology.

Clinical pathology and retinal vascular structure in the Bardet-Biedl syndrome.

T. Rosenberg, T. Bek, 1995, The British journal of ophthalmology.

Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families

T. Rosenberg, L. Huopaniemi, T. Alitalo, 2000, Human mutation.

Risk factors for idiopathic congenital/infantile cataract.

H. Fledelius, T. Rosenberg, M. Melbye, 2005, Investigative ophthalmology & visual science.

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

T. Rosenberg, J. Heckenlively, D. Birch, 2016, Scientific Reports.

Incidence and cumulative risk of childhood cataract in a cohort of 2.6 million Danish children.

H. Fledelius, T. Rosenberg, M. Melbye, 2004, Investigative ophthalmology & visual science.

Autosomal dominant congenital cataract; linkage relations; clinical and genetic heterogeneity

M. Warburg, T. Rosenberg, H. Eiberg, 1992, Clinical genetics.

Autosomal dominant congenital cataract Morphology and genetic mapping

T. Rosenberg, H. Eiberg, E. Marner, 1989, Acta ophthalmologica.

Marner's cataract (CAM) assigned to chromosome 16: linkage to haptoglobin

T. Rosenberg, H. Eiberg, J. Mohr, 1988, Clinical genetics.

Intrafamilial variation of the phenotype in Bardet–Biedl syndrome

N. Tommerup, T. Rosenberg, A. Wright, 1997, The British journal of ophthalmology.

Usher syndrome in Denmark

T. Rosenberg, L. Møller, K. Grønskov, 2018 .

Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: Confirmation of genetic heterogeneity

E. Zrenner, T. Rosenberg, M. Sadeghi, 1999, Human mutation.

The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy

A. Cideciyan, S. Jacobson, B. Lorenz, 2022, Proceedings of the National Academy of Sciences of the United States of America.

A common ancestral origin of the frequent and widespread 2299delG USH2A mutation.

C. Cremers, C. Möller, T. Rosenberg, 2001, American journal of human genetics.

Novel rhodopsin mutation (M216R) in a Danish family with autosomal dominant retinitis pigmentosa.

T. Rosenberg, A. Gal, K. Grundmann, 1996, Ophthalmic genetics.

Prevalence and Diagnostic Spectrum of Generalized Retinal Dystrophy in Danish Children

M. Larsen, B. Lorenz, T. Rosenberg, 2013, Ophthalmic epidemiology.

Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis.

T. Rosenberg, H. Eiberg, P. Kjer, 1994, Human molecular genetics.

Congenital ectopia lentis. A Danish national survey.

T. Rosenberg, J. Fuchs, 1998, Acta ophthalmologica Scandinavica.

A novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa cases

T. Rosenberg, M. Duno, E. Ostergaard, 2011, Molecular vision.

Mutations in the Gene for the B-Subunit of Rod Photoreceptor Cgmp-Specific Phosphodiesterase (PDEB) in Patients with Retinal Dystrophies and Dysfunctions

E. Zrenner, T. Rosenberg, T. Rosenberg, 1995 .

Development of a genotyping microarray for Usher syndrome

C. Cremers, M. Bitner-Glindzicz, E. van Wijk, 2006, Journal of Medical Genetics.

Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark

B. Lorenz, T. Rosenberg, F. Cremers, 2015, European Journal of Human Genetics.

Socio‐economic characteristics of patients with generalized retinal dystrophy in Denmark

T. Rosenberg, A. Linneberg, Mette Bertelsen, 2015, Acta ophthalmologica.

Prevalence of Generalized Retinal Dystrophy in Denmark

T. Rosenberg, H. Jensen, Mette Bertelsen, 2014, Ophthalmic epidemiology.

Incidence of registered visual impairment in the Nordic child population.

T. Rosenberg, S. Rudanko, E. Hansen, 1996, The British journal of ophthalmology.

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

P. Sieving, S. Jacobson, R. Salati, 2005, European Journal of Human Genetics.

Retinitis pigmentosa and allied disorders in Denmark

T. Rosenberg, M. Haim, 1993, Acta ophthalmologica.

A population survey of retinitis pigmentosa and allied disorders in Denmark

T. Rosenberg, N. Holm, M. Haim, 1992, Acta ophthalmologica.

Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.

T. Rosenberg, K. Brøndum‐Nielsen, K. Brixen, 2009, Investigative ophthalmology & visual science.

X-linked ocular albinism: prevalence and mutations – a national study

T. Rosenberg, M. Schwartz, 1998, European Journal of Human Genetics.

Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark

M. Larsen, T. Rosenberg, T. Bech-Hansen, 2016, Investigative ophthalmology & visual science.

Åland Eye Disease (Forsius‐Eriksson‐Miyake syndrome) with probability established in a Danish family

T. Rosenberg, S. E. Simonsen, M. Schwartz, 1990, Acta ophthalmologica.

Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism.

R. Kelsh, D. Stemple, T. Rosenberg, 2013, American journal of human genetics.

Transgenic mice carrying the H258N mutation in the gene encoding the β‐subunit of phosphodiesterase‐6 (PDE6B) provide a model for human congenital stationary night blindness

V. Mahajan, T. Rosenberg, S. Goff, 2007, Human mutation.

Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.

T. Rosenberg, H. Eiberg, K. Kjaer, 2007, Investigative ophthalmology & visual science.

Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies.

Yi-Ju Li, S. Züchner, D. Hunt, 2009, Investigative ophthalmology & visual science.

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene

S. Jacobson, T. de Ravel, B. Lorenz, 2019, Human mutation.

Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.

E. Zrenner, T. Rosenberg, B. Wissinger, 2004, Investigative ophthalmology & visual science.

Epidemiology of hereditary ocular disorders.

T. Rosenberg, 2003, Developments in ophthalmology.

Positional cloning of the gene for X-linked retinitis pigmentosa 2

Steffen Lenzner, André Rosenthal, A. Rosenthal, 1998, Nature Genetics.

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

S. Jacobson, T. Strom, T. Rosenberg, 2016, PloS one.

Identification of mutations in Danish choroideremia families

T. Rosenberg, F. Cremers, M. Schwartz, 1993, Human mutation.

Fundus albipunctatus associated with compound heterozygous mutations in RPE65.

M. Larsen, B. Lorenz, T. Rosenberg, 2011, Ophthalmology.

LACK OF AUTOFLUORESCENCE IN FUNDUS ALBIPUNCTATUS ASSOCIATED WITH MUTATIONS IN RDH5

M. Larsen, B. Lorenz, T. Rosenberg, 2010, Retina.

Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response

R. Salati, B. Lorenz, E. Zrenner, 2011, Human mutation.

Visual impairment in Nordic children

T. Rosenberg, S. Rudanko, E. Hansen, 1992, Acta ophthalmologica.

Visual impairment in Nordic children

M. Warburg, T. Rosenberg, S. Rudanko, 1992, Acta ophthalmologica.

Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes

P. Gouras, S. Tsang, G. Fishman, 2018, Cold Spring Harbor molecular case studies.

Partial USH2A deletions contribute to Usher syndrome in Denmark

N. Tommerup, T. Rosenberg, A. Albrechtsen, 2015, European Journal of Human Genetics.

Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy

T. Rosenberg, M. Duno, E. Ostergaard, 2010, Journal of Medical Genetics.

A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect

T. Rosenberg, S. Bhattacharya, H. Eiberg, 2001, Human Genetics.

Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects.

T. Rosenberg, H. Eiberg, P. Kjer, 2009, Acta ophthalmologica Scandinavica.

A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium

Z. Tümer, T. Rosenberg, K. Brøndum‐Nielsen, 2020, Investigative Ophthalmology and Visual Science.

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

Z. Tümer, T. Rosenberg, Jianguo Zhang, 2019, Scientific Reports.

Absence of NR2E1 mutations in patients with aniridia

E. Simpson, A. Brooks-Wilson, M. Walter, 2012, Molecular vision.

Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype

T. Rosenberg, K. Brøndum‐Nielsen, K. Grønskov, 1999, European Journal of Human Genetics.

Human Mutation

T. Rosenberg, F. Raymond, K. Carss, 2019 .

A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1.

T. Rosenberg, M. Schwartz, A. Gal, 1996, Human molecular genetics.

p.Gln200Glu, a putative constitutively active mutant of rod α‐transducin (GNAT1) in autosomal dominant congenital stationary night blindness

T. Rosenberg, A. Gal, H. Kreienkamp, 2007, Human mutation.

Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.

T. Rosenberg, H. Eiberg, G. Nürnberg, 2009, Investigative ophthalmology & visual science.

Novel MAF mutation in a family with congenital cataract-microcornea syndrome.

T. Rosenberg, H. Eiberg, L. Hansen, 2007, Molecular vision.

Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene

T. Rosenberg, M. Schwartz, J. Vissing, 2001, Annals of neurology.

Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)

P. Sieving, A. Ballabio, T. Rosenberg, 1998 .

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1.

R. Reinhardt, A. Beck, R. Roepman, 1996, Human molecular genetics.

A non‐ancestral RPGR missense mutation in families with either recessive or semi‐dominant X‐linked retinitis pigmentosa

D. Sharon, R. Roepman, T. Rosenberg, 2007, American journal of medical genetics. Part A.

Visual impairment in Nordic children

T. Rosenberg, S. Rudanko, E. Hansen, 1993, Acta ophthalmologica.

Analysis of the ABCA4 genomic locus in Stargardt disease.

J. Lupski, P. Gouras, S. Tsang, 2014, Human molecular genetics.

TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies

Flemming Skovby, Christian Hagemeier, P. Robinson, 2002, Human mutation.

Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.

M Jay, N. Tommerup, E. Bruford, 1997, Genomics.

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.

M. Hims, D. Hunt, T. Rosenberg, 2002, Human molecular genetics.

Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation.

P. Robinson, T. Rosenberg, C. Nienaber, 2000, American journal of medical genetics.

Bardet‐Biedl syndrome in Denmark—report of 13 novel sequence variations in six genes

V. Sheffield, A. Philp, T. Rosenberg, 2010, Human mutation.

Prevalence of tapeto-retinal dystrophies among Danish children

T. Rosenberg, 1989, Documenta Ophthalmologica.

The prevalence of Usher syndrome and other retinal dystrophy‐hearing impairment associations

T. Rosenberg, A. Parving, M. Haim, 1997, Clinical genetics.

Age differences of visual field impairment and mutation spectrum in Danish choroideremia patients

T. Rosenberg, M. Schwartz, T. Rosenberg, 1994, Acta ophthalmologica.

Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II

C. Möller, T. Rosenberg, V. Brox, 2008, Human mutation.

Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype–phenotype correlations in FBN1 exons 24–40

Flemming Skovby, Christian Hagemeier, P. Robinson, 2001, European Journal of Human Genetics.

Oliver McFarlane syndrome: two new cases and a review of the literature

Z. Tümer, T. Rosenberg, A. Bisgaard, 2021, Ophthalmic genetics.

The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46.

T. Rosenberg, H. Eiberg, K. Kjaer, 2006, Molecular vision.

Birdshot retinochoroidopathy in monozygotic twins

T. Rosenberg, Marianne Fich, 1992, Acta ophthalmologica.

Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene

T. Hansen, O. Pedersen, T. Rosenberg, 2005, Journal of Medical Genetics.

Loss of GFAP cause retinal dysplasia and vision impairment

T. Rosenberg, L. Larsen, S. T. Christensen, 2022, medRxiv.

Retinopathy of Prematurity. Where to Set Screening Limits? Recommendations Based on Two Danish Surveys

H. Fledelius, T. Rosenberg, 1990, Acta paediatrica Scandinavica.

Extreme hypermetropia and posterior microphthalmos in three siblings. An oculometric study

H. Fledelius, T. Rosenberg, 1987 .

Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness.

T. Rosenberg, E. Schwinger, W. Baehr, 1994, Nature genetics.

Substitution in the 5 ′ UTR of the Wilson Disease Gene Is a Sequence Polymorphism in the Mediterranean Population

Marja, D. Mackey, T. Rosenberg, 1998 .

Usher syndrome in Denmark: mutation spectrum and some clinical observations

T. Rosenberg, A. Roux, H. Karstensen, 2016, Molecular genetics & genomic medicine.

Identification of novel USH2A mutations: implications for the structure of USH2A protein

T. Rosenberg, W. Kimberling, M. D. Weston, 2000, European Journal of Human Genetics.

A population-based epidemiological and genetic study of X-linked retinitis pigmentosa.

T. Meitinger, H. Prokisch, T. Rosenberg, 2007, Investigative ophthalmology & visual science.

Prevalence of retinitis pigmentosa and allied disorders in Denmark

T. Rosenberg, N. Holm, N V Holm, 1992, Acta ophthalmologica.

X-linked high myopia associated with cone dysfunction.

T. Rosenberg, A. Motulsky, L. Atwood, 2004, Archives of ophthalmology.

Erratum: Heterozygous missense mutation in the rod cGMP phosphodiesterase β-subunit gene in autosomal dominant stationary night blindness (Nature Genetics (1994) 7 (64-68))

T. Rosenberg, E. Schwinger, W. Baehr, 1994 .

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing

B. Lorenz, T. Rosenberg, S. Feil, 2008, Molecular vision.

Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2).

T. Rosenberg, S. Feil, W. Berger, 1999, Ophthalmic genetics.

Refined genetic mapping of autosomal dominant retinitis pigmentosa locus RP18 reduces the critical region to 2 cM between D1S442 and D1S2858 on chromosome 1q

T. Rosenberg, A. Gal, Su-ying Xu, 1998, Human Genetics.

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

T. Rosenberg, G. H. Bruun, B. Andresen, 2019, Scientific Reports.

Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified

T. Rosenberg, H. Eiberg, T. Bek, 2005, European Journal of Human Genetics.

Prevalence and Genetics of Leber Hereditary Optic Neuropathy in the Danish Population.

T. Rosenberg, P. Magalhães, M. Schwartz, 2016, Investigative Ophthalmology and Visual Science.

Increased Mortality and Comorbidity Associated With Leber's Hereditary Optic Neuropathy: A Nationwide Cohort Study.

C. Torp‐Pedersen, T. Rosenberg, H. Vorum, 2017, Investigative ophthalmology & visual science.

[Hereditary optic nerve atrophy. A clinical-genealogical status over Danish families with Leber disease].

T. Rosenberg, S. Norby, E. Kann, 1995, Ugeskrift for laeger.

Current trends in newly registered blindness in Denmark.

T. Rosenberg, F. Klie, Thomas Rosenberg, 2009, Acta ophthalmologica Scandinavica.

An mtDNA mutation, 14453G→A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome

T. Rosenberg, M. Schwartz, F. Wibrand, 2001, European Journal of Human Genetics.

Visual impairment in Nordic children

T. Rosenberg, S. Rudanko, E. Hansen, 1992, Acta ophthalmologica.

Visual impairment in Danish children 1985

T. Rosenberg, 1987, Acta ophthalmologica.

Outcome of cataract surgery in patients with Retinitis Pigmentosa

T. Rosenberg, M. Larsen, Mette Bertelsen, 2012 .

CENTRAL SEROUS RETINOPATHY AND PRESENILE DISCIFORM EXUDATIVE MACULAR DEGENERATION

T. Rosenberg, S. Faurschou, N. Nielsen, 1977, Acta ophthalmologica.

Hereditary High Hypermetropia in the Faroe Islands

H. Fledelius, T. Rosenberg, E. Scherfig, 2005, Ophthalmic genetics.

The incidence of registered blindness caused by age-related macular degeneration.

T. Rosenberg, F. Klie, Thomas Rosenberg, 2009, Acta ophthalmologica Scandinavica.

albinism Ocular albinism Anterior chamber dysgenesis Infantile cataract Anophthalmos ( congenital ) Aniridia Retinal dysplasia Coloboma of choroid and retina Falciform retinal fold Infantile glaucoma Achromatopsia Congenital stationary nightblindness Congenital glaucoma Congenital cataract with micr

T. Rosenberg, S. Rudanko, E. Hansen, 2022 .

An international collaborative family-based whole-genome linkage scan for high-grade myopia.

G. Kirov, M. Owen, Yi-Ju Li, 2009, Investigative ophthalmology & visual science.

Prevalence of age-related maculopathy and age-related macular degeneration among the inuit in Greenland. The Greenland Inuit Eye Study.

T. Peto, T. Rosenberg, A. Bird, 2008, Ophthalmology.

Refinement of the dominant optic atrophy locus (OPA1) to a 1.4-cM interval on chromosome 3q28-3q29, within a 3-Mb YAC contig

A. Jonasdottir, T. Rosenberg, H. Eiberg, 1996, Human Genetics.

Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2.

Yi-Ju Li, D. Mackey, T. Rosenberg, 2013, Investigative ophthalmology & visual science.

Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36

M. Warburg, T. Rosenberg, H. Eiberg, 1995, Human Genetics.

Mutation detection in Leber's hereditary optic neuropathy by PCR with allele-specific priming.

T. Rosenberg, S. Norby, P. Lestienne, 1991, Biochemical and biophysical research communications.

Leber's hereditary optic neuropathy: Implications of the sex ratio for linkage studies in families with the 3460 ND1 mutation

T. Rosenberg, I. Craig, S. Norby, 1995, Eye.

Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the beta-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3.

T. Rosenberg, H. Eiberg, E. Schwinger, 1994, Human molecular genetics.

THE CLINICAL CLASSIFICATION OF MACULO‐PATHIES IN ADULTS A SURVEY

T. Rosenberg, S. Faurschou, N. Nielsen, 1977 .

Visual impairment in Nordic children

T. Rosenberg, S. Rudanko, E. Hansen, 1992, Acta ophthalmologica.

Visual impairment due to retinopathy of prematurity in Nordic children

T. Rosenberg, S. Rudanko, E. Hansen, 1993, Acta ophthalmologica. Supplement.

[Blindness due to retrolental fibroplasia in Denmark 1948-1985. Updating of compulsory notification of visual handicaps in premature infants].

H. Fledelius, T. Rosenberg, S. E. Hansen, 1987, Ugeskrift for laeger.

The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract

N. Tommerup, T. Rosenberg, H. Eiberg, 2014, European Journal of Human Genetics.

Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa

Z. Tümer, T. Rosenberg, K. Brøndum‐Nielsen, 2020, Genes.

Oculometric Characteristics of Extreme Hypermetropia in Two Faroese Families

H. Fledelius, T. Rosenberg, H. J. Fuchs, 2004, Optometry and vision science : official publication of the American Academy of Optometry.

Choroideremia: melanopsin‐mediated postillumination pupil relaxation is abnormally slow

M. Larsen, H. Lund‐Andersen, T. Rosenberg, 2017, Acta ophthalmologica.

ERG Findings in Two Patients with Autosomal Dominant Congenital Stationary Night Blindness and His258Asn Mutation of the β-Subunit of Rod Photoreceptor CGMP-Specific Phosphodiesterase

T. Rosenberg, A. Gal, S. E. Simonsen, 1995 .

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

T. Rosenberg, G. H. Bruun, B. Andresen, 2019, Scientific Reports.

Syddansk Universitet A pathogenic haplotype , common in Europeans , causes autosomal recessive albinism and uncovers missing heritability in OCA 1

T. Rosenberg, B. Andresen, K. Brøndum‐Nielsen, 2019 .

Apr 27, 2019 A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing

T. Rosenberg, B. Andresen, K. Brøndum‐Nielsen, 2019 .

Retinal cone dysfunction of supernormal rod ERG type

T. Rosenberg, S. E. Simonsen, 1993, Acta ophthalmologica.

Author response: Nonspecific PCR amplification of CRYBB2-pseudogene leads to misconception of natural variation as mutation.

T. Rosenberg, L. Hansen, 2012, Investigative ophthalmology & visual science.

Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees

D. Turnbull, D. Mackey, T. Rosenberg, 2004, Journal of Medical Genetics.

COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus.

M. Owen, Yi-Ju Li, D. Mackey, 2009, Investigative ophthalmology & visual science.

Clinical and genetic characterization of a Danish family with North Carolina macular dystrophy

M. Larsen, T. Scheetz, E. Stone, 2010, Molecular vision.

Bilateral Symmetric Autosomal Dominant Sector Chorioretinopathy with late Maculopathy: A Review Based on a Case with 48 Years Follow-up

H. Fledelius, T. Rosenberg, 2012, European journal of ophthalmology.

An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive error

Yi-Ju Li, D. Mackey, T. Rosenberg, 2012, Molecular vision.

Prevalence of Open-angle Glaucoma in the Faroese Population

T. Rosenberg, H. Vorum, J. Fingert, 2021, Journal of glaucoma.

The prevalence and incidence of visual impairment in people of age 20–59 years in industrialized countries: A review

A. Sjølie, T. Rosenberg, K. Borch-Johnsen, 2003, Ophthalmic epidemiology.

Leber's hereditary optic neuropathy associated with a disorder indistinguishable from multiple sclerosis in a male harbouring the mitochondrial DNA 11778 mutation

T. Rosenberg, N. K. Olsen, S. Norby, 1995, Acta neurologica Scandinavica.

Partial USH2A deletions contribute to Usher syndrome in Denmark

N. Tommerup, T. Rosenberg, A. Albrechtsen, 2015, European Journal of Human Genetics.

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

T. Rosenberg, G. H. Bruun, B. Andresen, 2019, Scientific Reports.

RESEARCH ARTlCLE

P. Cerutti, T. Rosenberg, F. Cremers, 2022 .

A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome.

T. Rosenberg, A. Frederiksen, M. Duno, 2013, Gene.

Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients.

T. Rosenberg, F. Cremers, H. Ropers, 1994, Human molecular genetics.

Is Leber's hereditary optic neuropathy a retinal disorder?: Report of a case

T. Rosenberg, H. Bynke, G. Bynke, 1996 .

Reply to Hofmann et al.

D. Mackey, T. Rosenberg, N. Howell, 1998, American journal of human genetics.

Choroideremia in interstitial deletion of the X chromosome.

C. Lundsteen, T. Rosenberg, E. Niebuhr, 1986, Ophthalmic paediatrics and genetics.

North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.

Adam P. DeLuca, T. Scheetz, J. Folk, 2016, Ophthalmology.

Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response

R. Salati, B. Lorenz, E. Zrenner, 2011, Human mutation.

Reappraisal of a short-wavelength-sensitive (S-cone) recording technique in routine clinical electroretinography

T. Rosenberg, S. E. Simonsen, 1995, Documenta Ophthalmologica.

Bardet‐Biedl syndrome in Denmark—report of 13 novel sequence variations in six genes

V. Sheffield, A. Philp, T. Rosenberg, 2010, Human mutation.

A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia

G. Oliveira, A. Vicente, R. Cotterill, 2008, European Journal of Human Genetics.

Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II

C. Möller, T. Rosenberg, V. Brox, 2008, Human mutation.

Integrity of the cone photoreceptor mosaic in oligocone trichromacy.

Elise W. Dees, J. Mollon, M. Larsen, 2011, Investigative ophthalmology & visual science.

Prenatal diagnosis of choroideremia.

T. Rosenberg, M. Schwartz, T. Rosenberg, 2009, Acta ophthalmologica Scandinavica. Supplement.