Publications by authors named "Thomas Rosenberg"

97Publications

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

Invest Ophthalmol Vis Sci 2017 09;58(11):4586-4592

Department of Epidemiology, Aalborg University Hospital, Aalborg, Denmark.

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http://dx.doi.org/10.1167/iovs.17-21990DOI Listing
September 2017

Exome Sequence Analysis of 14 Families With High Myopia.

Invest Ophthalmol Vis Sci 2017 04;58(4):1982-1990

Department of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin, United States.

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http://dx.doi.org/10.1167/iovs.16-20883DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5382835PMC
April 2017

Choroideremia: melanopsin-mediated postillumination pupil relaxation is abnormally slow.

Acta Ophthalmol 2017 Dec 8;95(8):809-814. Epub 2017 Mar 8.

Department of Ophthalmology, Rigshospitalet, Glostrup, Denmark.

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http://dx.doi.org/10.1111/aos.13394DOI Listing
December 2017

Leber hereditary optic neuropathy due to a new ND1 mutation.

Ophthalmic Genet 2017 Sep-Oct;38(5):480-485. Epub 2017 Jan 31.

a Faculty of Health and Medical Sciences , University of Copenhagen , Copenhagen , Denmark.

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http://dx.doi.org/10.1080/13816810.2016.1253108DOI Listing
December 2017

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

Invest Ophthalmol Vis Sci 2016 12;57(15):6861-6869

Department of Ophthalmology, National Eye Clinic for the Visually Impaired and Kennedy Center, Rigshospitalet, Glostrup, Denmark 3Institute of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.1
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http://dx.doi.org/10.1167/iovs.16-19445DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5215230PMC
December 2016

Usher syndrome in Denmark: mutation spectrum and some clinical observations.

Mol Genet Genomic Med 2016 Sep 28;4(5):527-539. Epub 2016 Jun 28.

Applied Human GeneticsKennedy CenterDepartment of Clinical GeneticsCopenhagen UniversityRigshospitaletGlostrupDenmark; Department of Cellular and Molecular MedicineThe Faculty of Health SciencesUniversity of Copenhagen2200CopenhagenDenmark; Department of Science Systems and Models (NSM)Roskilde UniversityDK 4000RoskildeDenmark.

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http://dx.doi.org/10.1002/mgg3.228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023938PMC
September 2016

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

Invest Ophthalmol Vis Sci 2016 Mar;57(3):1370-5

Department of Clinical Genetics 4062, University Hospital Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1167/iovs.15-18306DOI Listing
March 2016

Partial USH2A deletions contribute to Usher syndrome in Denmark.

Eur J Hum Genet 2015 Dec 25;23(12):1646-51. Epub 2015 Mar 25.

Clinical Genetics Clinic, The Kennedy Center, Rigshospitalet, University of Copenhagen, Glostrup, Denmark.

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http://dx.doi.org/10.1038/ejhg.2015.54DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795208PMC
December 2015

Prevalence of generalized retinal dystrophy in Denmark.

Ophthalmic Epidemiol 2014 Aug 25;21(4):217-23. Epub 2014 Jun 25.

Kennedy Center Eye Clinic, Glostrup Hospital , Glostrup , Denmark .

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http://dx.doi.org/10.3109/09286586.2014.929710DOI Listing
August 2014

Socio-economic characteristics of patients with generalized retinal dystrophy in Denmark.

Acta Ophthalmol 2015 Mar 22;93(2):134-40. Epub 2014 Jun 22.

Kennedy Center Eye Clinic, Glostrup Hospital, Glostrup, Denmark; Department of Ophthalmology, Glostrup Hospital, Glostrup, Denmark; Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1111/aos.12467DOI Listing
March 2015

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.

Mol Vis 2014 2;20:753-9. Epub 2014 Jun 2.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands ; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://www.molvis.org/molvis/v20/753/mv-v20-753.pdf
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043607PMC
September 2014

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

Invest Ophthalmol Vis Sci 2014 Apr 29;55(4):2766-76. Epub 2014 Apr 29.

Department of Ophthalmology, Glostrup Hospital, Glostrup, Denmark.

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http://dx.doi.org/10.1167/iovs.13-13391DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4005615PMC
April 2014

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

Eur J Hum Genet 2014 Nov 19;22(11):1290-7. Epub 2014 Feb 19.

Department of Biological Sciences, CW-405 Biological Sciences Building, University of Alberta, Edmonton, Alberta, Canada.

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http://dx.doi.org/10.1038/ejhg.2014.21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4200433PMC
November 2014

Optical detection of carotenoid antioxidants in human bone and surrounding tissue.

J Biomed Opt 2013 Nov;18(11):117006

University of Utah, Department of Physics and Astronomy, Salt Lake City, Utah 84112.

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http://dx.doi.org/10.1117/1.JBO.18.11.117006DOI Listing
November 2013

Increasing the complexity: new genes and new types of albinism.

Pigment Cell Melanoma Res 2014 Jan 17;27(1):11-8. Epub 2013 Oct 17.

Department of Molecular and Cellular Biology, National Centre for Biotechnology (CNB-CSIC), Campus de Cantoblanco, Madrid, Spain; CIBERER, ISCIII, Madrid, Spain.

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http://doi.wiley.com/10.1111/pcmr.12167
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http://dx.doi.org/10.1111/pcmr.12167DOI Listing
January 2014

[New treatments of hereditary blindness].

Ugeskr Laeger 2013 Sep;175(36):2038-42

Øjenklinikken, Kennedy Centret, Gammel Landevej 7, Glostrup.

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September 2013

Prevalence and diagnostic spectrum of generalized retinal dystrophy in Danish children.

Ophthalmic Epidemiol 2013 Jun 10;20(3):164-9. Epub 2013 May 10.

National Eye Clinic for the Visually Impaired, Kennedy Center, Glostrup, Denmark.

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http://dx.doi.org/10.3109/09286586.2013.776692DOI Listing
June 2013

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

Am J Hum Genet 2013 Mar 7;92(3):415-21. Epub 2013 Feb 7.

Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.ajhg.2013.01.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3591853PMC
March 2013

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

Gene 2013 Feb 20;515(2):372-5. Epub 2012 Dec 20.

Dept. of Clinical Genetics, University Hospital, Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.gene.2012.12.066DOI Listing
February 2013

Absence of NR2E1 mutations in patients with aniridia.

Mol Vis 2012 22;18:2770-82. Epub 2012 Nov 22.

Centre for Molecular Medicine and Therapeutics at the Child & Family Research Institute, University of British Columbia, Vancouver, BC, Canada.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3513187PMC
May 2013

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

BMJ 2012 Nov 30;345:e7885. Epub 2012 Nov 30.

Department of Ophthalmology, Glostrup Hospital, Nordre Ringvej 57, 2600 Glostrup, Denmark.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3510781PMC
http://dx.doi.org/10.1136/bmj.e7885DOI Listing
November 2012

Significance of C-reactive protein in osteoarthritis and total knee arthroplasty outcomes.

Ther Adv Musculoskelet Dis 2012 Oct;4(5):315-25

Department of Bioengineering, University of Utah, 3223 Sorenson Molecular Biotechnology Building, Salt Lake City, UT 84112, USA.

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http://dx.doi.org/10.1177/1759720X12455959DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3458617PMC
October 2012

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

Invest Ophthalmol Vis Sci 2012 Sep 25;53(10):6666. Epub 2012 Sep 25.

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http://dx.doi.org/10.1167/iovs.12-10751DOI Listing
September 2012

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

Am J Ophthalmol 2012 Aug 24;154(2):403-412.e4. Epub 2012 May 24.

Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.ajo.2012.02.036DOI Listing
August 2012

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

Ophthalmic Genet 2012 Dec 9;33(4):225-31. Epub 2012 Jan 9.

Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Denmark.

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http://dx.doi.org/10.3109/13816810.2011.643441DOI Listing
December 2012

Bilateral symmetric autosomal dominant sector chorioretinopathy with late maculopathy: a review based on a case with 48 years follow-up.

Eur J Ophthalmol 2012 Mar-Apr;22(2):280-3

Rigshospitalet, University Eye Department, Region Hovedstaden Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.5301/ejo.5000014DOI Listing
August 2012

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

Mol Vis 2011 4;17:1485-92. Epub 2011 Jun 4.

Department of Clinical Genetics 4062, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110495PMC
October 2011

Fundus albipunctatus associated with compound heterozygous mutations in RPE65.

Ophthalmology 2011 May 6;118(5):888-94. Epub 2011 Jan 6.

Department of Ophthalmology, Glostrup Hospital, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.ophtha.2010.09.005DOI Listing
May 2011

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

Hum Mol Genet 2011 Feb 1;20(4):719-30. Epub 2010 Dec 1.

Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University Clinics Tuebingen, Roentgenweg 11, D-72076 Tuebingen, Germany.

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http://dx.doi.org/10.1093/hmg/ddq517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3269206PMC
February 2011

Lack of autofluorescence in fundus albipunctatus associated with mutations in RDH5.

Retina 2010 Nov-Dec;30(10):1704-13

Department of Ophthalmology, Glostrup Hospital, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1097/IAE.0b013e3181dc050aDOI Listing
February 2011

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

Invest Ophthalmol Vis Sci 2010 Sep 30;51(9):4476-9. Epub 2010 Apr 30.

Center for Human GeneticsDepartment of Biostatistics and Bioinformatics, Duke University Medical Center, Durham, NC 27710, USA.

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http://dx.doi.org/10.1167/iovs.09-4912DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2941166PMC
September 2010

Oligocone trichromacy: clinical and molecular genetic investigations.

Invest Ophthalmol Vis Sci 2010 Jan 24;51(1):89-95. Epub 2009 Sep 24.

National Eye Clinic, Kennedy Center, Glostrup, Denmark.

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http://dx.doi.org/10.1167/iovs.09-3988DOI Listing
January 2010

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

Invest Ophthalmol Vis Sci 2009 Jul 31;50(7):3291-303. Epub 2009 Jan 31.

Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1167/iovs.08-3149DOI Listing
July 2009

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

Invest Ophthalmol Vis Sci 2009 Mar 5;50(3):1058-64. Epub 2008 Dec 5.

edical Genetics Laboratory Center, Kennedy Center, Glostrup, Denmark.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.0
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http://dx.doi.org/10.1167/iovs.08-2639DOI Listing
March 2009

Statistical modeling of global geogenic fluoride contamination in groundwaters.

Environ Sci Technol 2008 May;42(10):3662-8

Eawag, Swiss Federal Institute of Aquatic Science and Technology, 8600 Dübendorf, Switzerland.

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http://dx.doi.org/10.1021/es071958yDOI Listing
May 2008

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

Hum Mutat 2008 Mar;29(3):451

Department of Medical Genetics, Institute of Clinical Medicine, University of Tromsø, NO-9037 Tromsø, Norway.

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http://dx.doi.org/10.1002/humu.9524DOI Listing
March 2008

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

Ophthalmology 2008 Apr 11;115(4):700-707.e1. Epub 2008 Feb 11.

Department of Ophthalmology, Rigshospitalet, University Hospital of Copenhagen and Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.ophtha.2007.12.013DOI Listing
April 2008

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

Invest Ophthalmol Vis Sci 2008 Feb;49(2):751-7

Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University Clinics Tübingen, Germany.

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http://dx.doi.org/10.1167/iovs.07-0471DOI Listing
February 2008

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

Eur J Hum Genet 2008 Mar 9;16(3):312-9. Epub 2008 Jan 9.

Department of Medical Genetics, Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N, Denmark.

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http://dx.doi.org/10.1038/sj.ejhg.5201985DOI Listing
March 2008

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

Mol Vis 2007 Oct 18;13:2019-22. Epub 2007 Oct 18.

The Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen N, Denmark.

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October 2007

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

Mol Vis 2007 Oct 17;13:1962-9. Epub 2007 Oct 17.

Gordon Norrie Center for Genetic Eye Diseases, National Eye Clinic for the Visually Impaired, Kennedy Center, Hellerup, Denmark.

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October 2007

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

Invest Ophthalmol Vis Sci 2007 Sep;48(9):4012-8

Institute of Human Genetics, Technical University of Munich, Munich, Germany.

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http://dx.doi.org/10.1167/iovs.07-0071DOI Listing
September 2007

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

Invest Ophthalmol Vis Sci 2007 Sep;48(9):3937-44

Wilhelm Johannsen Centre for Functional Genome Research, Department G, Institute of Medical Biochemistry and Genetics, Panum Institute, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1167/iovs.07-0013DOI Listing
September 2007

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

Am J Med Genet A 2007 Aug;143A(15):1699-702

Kennedy Institute-National Eye Clinic, Glostrup/Hellerup, Denmark.

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http://doi.wiley.com/10.1002/ajmg.a.31805
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http://dx.doi.org/10.1002/ajmg.a.31805DOI Listing
August 2007

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

Hum Mutat 2007 Jul;28(7):741-2

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1002/humu.9499DOI Listing
July 2007

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

Mol Vis 2006 Sep 1;12:1033-9. Epub 2006 Sep 1.

The Wilhelm Johannsen Centre for Functional Genome Research, Institute of Medical Biochemistry and Genetics, University of Copenhagen, Copenhagen, Denmark.

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September 2006

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

Eur J Hum Genet 2005 Dec;13(12):1275-84

The Wilhelm Johannsen Centre for Functional Genome Research, Institute of Medical Biochemistry and Genetics, Panum Institute, University of Copenhagen, Copenhagen N, Denmark.

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http://www.nature.com/articles/5201491
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http://dx.doi.org/10.1038/sj.ejhg.5201491DOI Listing
December 2005

Risk factors for idiopathic congenital/infantile cataract.

Invest Ophthalmol Vis Sci 2005 Sep;46(9):3067-73

Department of Epidemiology Research, Danish Epidemiology Science Centre, Statens Serum Institut, Artillerivej 5, DK-2300 Copenhagen, Denmark.

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http://dx.doi.org/10.1167/iovs.04-0979DOI Listing
September 2005

[Bardet-Biedl syndrome. Insight into this rare inherited syndrome can lead to new knowledge of molecular mechanisms].

Ugeskr Laeger 2005 May;167(22):2394-8

John F. Kennedy Instituttet--Statens Ojenklinik, Glostrup.

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May 2005

Hereditary high hypermetropia in the Faroe Islands.

Ophthalmic Genet 2005 Mar;26(1):9-15

Department of Ophthalmology, Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1080/13816810590918406DOI Listing
March 2005

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

Ophthalmology 2004 Dec;111(12):2292-8

Department of Epidemiology Research, Danish Epidemiology Science Centre, Statens Serum Institut, Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.ophtha.2004.06.024DOI Listing
December 2004

Oculometric characteristics of extreme hypermetropia in two faroese families.

Optom Vis Sci 2004 Oct;81(10):762-8

The University Eye Department of Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1097/00006324-200410000-00008DOI Listing
October 2004

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

Invest Ophthalmol Vis Sci 2004 Dec;45(12):4256-62

Gordon Norrie Centre for Genetic Eye Diseases, National Eye Clinic for the Visually Impaired, 1 Rymarksvej, DK-2900 Hellerup, Denmark.

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http://dx.doi.org/10.1167/iovs.04-0317DOI Listing
December 2004

[Melanoma-associated retinopathy in a patient without a primary tumour].

Ugeskr Laeger 2004 Aug;166(33):2812-3

H:S Rigshospitalet, Ojenafdeling E, København.

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August 2004

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

Invest Ophthalmol Vis Sci 2004 May;45(5):1316-20

Department of Epidemiology Research, Danish Epidemiology Science Centre, Statens Serum Institut, Copenhagen, Denmark.

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http://dx.doi.org/10.1167/iovs.03-0635DOI Listing
May 2004

The prevalence and incidence of visual impairment in people of age 20-59 years in industrialized countries: a review.

Ophthalmic Epidemiol 2003 Oct;10(4):279-91

National Eye Clinic for the Visually Impaired, Hellerup, Denmark.

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http://dx.doi.org/10.1076/opep.10.4.279.15909DOI Listing
October 2003

Epidemiology of hereditary ocular disorders.

Authors:
Thomas Rosenberg

Dev Ophthalmol 2003 ;37:16-33

Gordon Norrie Centre for Genetic Eye Diseases, National Eye Clinic for the Visually Impaired, Hellerup, Denmark.

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http://dx.doi.org/10.1159/000072036DOI Listing
September 2003

ACL reconstruction with hamstring tendon.

Orthop Clin North Am 2003 Jan;34(1):9-18

Orthopedic Specialty Hospital, 5848 South 300 East, Salt Lake City, UT 84107, USA.

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http://dx.doi.org/10.1016/s0030-5898(02)00016-0DOI Listing
January 2003

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

Hum Mutat 2002 Sep;20(3):153-61

Institute of Medical Genetics, Department of General Pediatrics, Charité University Hospital, Berlin, Germany.

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http://dx.doi.org/10.1002/humu.10113DOI Listing
September 2002

3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings.

Mol Genet Metab 2002 Jul;76(3):201-6

Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, 10 Center Drive, MSC 1830, Building 10, Room 9S-241, Bethesda, MD 20892-1830, USA.

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http://dx.doi.org/10.1016/s1096-7192(02)00047-1DOI Listing
July 2002

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

Am J Hum Genet 2002 Aug 20;71(2):422-5. Epub 2002 Jun 20.

Molekulargenetisches Labor, Universitäts-Augenklinik, Auf der Morgenstelle 15, D-72076 Tübingen, Germany.

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http://dx.doi.org/10.1086/341835DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC379175PMC
August 2002