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Birgit Lorenz

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TOP 3
Michael Gräf; Birgit Lorenz
How to deal with diplopia.
Markus N Preising; Franz Rüschendorf; Manuel C Solbach; Christoph Friedburg; Nora Hausotter-Will; Birgit Lorenz
Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.
Michael Gräf; Qasem Alhammouri; Christian Vieregge; Birgit Lorenz
The Brückner transillumination test: limited detection of small-angle esotropia.

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All Publications

2012: Michael Gräf; Birgit Lorenz
How to deal with diplopia.
Revue neurologique 2012;168(10):720-8.
2012: Markus N Preising; Franz Rüschendorf; Manuel C Solbach; Christoph Friedburg; Nora Hausotter-Will; Birgit Lorenz
Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.
Investigative ophthalmology & visual science 2012;53(7):3463-72.
2011: Michael Gräf; Qasem Alhammouri; Christian Vieregge; Birgit Lorenz
The Brückner transillumination test: limited detection of small-angle esotropia.
Ophthalmology 2011;118(12):2504-9.
2011: Christoph Friedburg; Susanne Kohl; Maria Schambeck; Bernd Wissinger; Michael Bonin; Birgit Lorenz
Long-term follow-up of the human phenotype in three siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2.
Investigative ophthalmology & visual science 2011;52(12):8621-9.
2011: R V Neutzner; C A Deeg; Christoph Friedburg; M Jäger; Birgit Lorenz
[Blind spot enlargement syndrome in acute zonal occult outer retinopathy with detection of autoantibodies against the retinal antigens CRALBP and S-Ag].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 2011;108(11):1045-9.
2011: Yaroslava Wenner; Stephan Wismann; Melanie Jäger; Jörn Pons-Kühnemann; Birgit Lorenz
Interchangeability of macular thickness measurements between different volumetric protocols of Spectralis optical coherence tomography in normal eyes.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 2011;249(8):1137-45.
2011: Isabel Oberacher-Velten; Christopher Prasser; Justine Rochon; Horst Helbig; Karl-Peter Ittner; Birgit Lorenz
The effects of midazolam on intraocular pressure in children during examination under sedation.
The British journal of ophthalmology 2011;95(8):1102-5.
2011: Jutta Hosch; Birgit Lorenz; Knut Stieger
RPGR: role in the photoreceptor cilium, human retinal disease, and gene therapy.
Ophthalmic genetics 2011;32(1):1-11.
2010: Knut Stieger; Birgit Lorenz
Gene therapy for vision loss -- recent developments.
Discovery medicine 2010;10(54):425-33.
2010: Birgit Lorenz; Markus N Preising; Knut Stieger
Retinal blinding disorders and gene therapy--molecular and clinical aspects.
Current gene therapy 2010;10(5):350-70.
2010: Stephanie Wilscher; Bettina Wabbels; Birgit Lorenz
Feasibility and outcome of automated kinetic perimetry in children.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 2010;248(10):1493-500.
2010: Michael Gräf; Birgit Lorenz; Anja Eckstein; Joachim Esser
Superior oblique tucking with versus without additional inferior oblique recession for acquired trochlear nerve palsy.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 2010;248(2):223-9.
2009: Christina Zeitz; Stephan Labs; Birgit Lorenz; Ursula Forster; Janne Uksti; Hester Y Kroes; Elfride De Baere; Bart P Leroy; Frans P M Cremers; Mariana Wittmer; Maria van Genderen; José-Alain Sahel; Isabelle Audo; Charlotte M Poloschek; Saddek Mohand-Saïd; Johannes C Fleischhauer; Ulrike Hüffmeier; Veselina Moskova-Doumanova; Alex V Levin; Christian P Hamel; Dorothee Leifert; Francis L Munier; Daniel F Schorderet; Eberhart Zrenner; Christoph Friedburg; Bernd Wissinger; Susanne Kohl; Wolfgang Berger
Genotyping microarray for CSNB-associated genes.
Investigative ophthalmology & visual science 2009;50(12):5919-26.
2009: Isabelle Audo; Susanne Kohl; Bart P Leroy; Francis L Munier; xavier guillonneau; Saddek Mohand-Saïd; Kinga Bujakowska; Emeline F Nandrot; Birgit Lorenz; Markus Preising; Ulrich Kellner; Agnes B Renner; Antje Bernd; Aline Antonio; Veselina Moskova-Doumanova; Marie-Elise Lancelot; Charlotte M Poloschek; Isabelle Drumare; Sabine Defoort-Dhellemmes; Bernd Wissinger; Thierry Léveillard; Christian P Hamel; Daniel F Schorderet; Elfride De Baere; Wolfgang Berger; Samuel G Jacobson; Eberhart Zrenner; José-Alain Sahel; Shomi S Bhattacharya; Christina Zeitz
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.
American journal of human genetics 2009;85(5):720-9.
2009: Birgit Lorenz; Katerina Spasovska; Heike Elflein; Nico Schneider
Wide-field digital imaging based telemedicine for screening for acute retinopathy of prematurity (ROP). Six-year results of a multicentre field study.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 2009;247(9):1251-62.
2009: Markus N Preising; Erika Wegscheider; Christoph Friedburg; Charlotte M Poloschek; Bettina K Wabbels; Birgit Lorenz
Fundus autofluorescence in carriers of choroideremia and correlation with electrophysiologic and psychophysical data.
Ophthalmology 2009;116(6):1201-9.e1-2.
2008: Isabel Oberacher-Velten; Christopher Prasser; Birgit Lorenz
Evolution of central corneal thickness in children with congenital glaucoma requiring glaucoma surgery.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 2008;246(3):397-403.
2007: Bettina Wabbels; Josef A Schroeder; Beate Voll; Heiko Siegmund; Birgit Lorenz
Electron microscopic findings in levator muscle biopsies of patients with isolated congenital or acquired ptosis.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 2007;245(10):1533-41.
2007: Birgit Lorenz
[Genetic examination in cases of congenital cataract].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 2007;104(7):559-65.
2007: Karina Paunescu; Markus N Preising; B Janke; B Wissinger; Birgit Lorenz
Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame.
Ophthalmology 2007;114(7):1348-1357.e1.
2007: Markus N Preising; Karina Paunescu; C Friedburg; Birgit Lorenz
[Genetic and clinical heterogeneity in LCA patients. The end of uniformity].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 2007;104(6):490-8.
2007: Markus N Preising; Hedwig Forster; H Tan; Birgit Lorenz; Paulus T V M de Jong; Astrid S Plomp
Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches.
Molecular vision 2007;13():1851-5.
2006: Birgit Lorenz; Heike M Elflein; Ferdinand Hofstädter
Ependymal tissue in microphthalmia with cyst.
Ophthalmic genetics 2006;27(4):165-8.
2006: Bettina Wabbels; Markus N Preising; U Kretschmann; Anke Demmler; Birgit Lorenz
Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophy.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 2006;244(11):1453-66.
2006: Sanjay M Sisodiya; Nicola K Ragge; Gianpiero L Cavalleri; Ann M Hever; Birgit Lorenz; Adele Schneider; Kathleen A Williamson; John M Stevens; Samantha L Free; Pamela J Thompson; Veronica van Heyningen; David R FitzPatrick
Role of SOX2 mutations in human hippocampal malformations and epilepsy.
Epilepsia 2006;47(3):534-42.
2006: Birgit Lorenz; Marlis Lenk-Schaefer
Pediatric ophthalmology in Germany.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 2006;10(1):1-3.
2006: Bettina Wabbels; Anke Demmler; Karina Paunescu; Erika Wegscheider; Markus N Preising; Birgit Lorenz
Fundus autofluorescence in children and teenagers with hereditary retinal diseases.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 2006;244(1):36-45.
2005: Nicola K Ragge; Alison G Brown; Charlotte M Poloschek; Birgit Lorenz; R Alex Henderson; Michael P Clarke; Isabelle Russell-Eggitt; Alistair Fielder; Dianne Gerrelli; Juan Pedro Martinez-Barbera; Piers Ruddle; Jane Hurst; J R O Collin; Alison Salt; Simon T Cooper; Pamela J Thompson; Sanjay M Sisodiya; Kathleen A Williamson; David R FitzPatrick; Veronica van Heyningen; Isabel M Hanson
Heterozygous mutations of OTX2 cause severe ocular malformations.
American journal of human genetics 2005;76(6):1008-22.
2005: Nicola K Ragge; Birgit Lorenz; Adele Schneider; Kate Bushby; Luisa de Sanctis; Ugo de Sanctis; Alison Salt; J R O Collin; Anthony J Vivian; Samantha L Free; Pamela Thompson; Kathleen A Williamson; Sanjay M Sisodiya; Veronica van Heyningen; David R FitzPatrick
SOX2 anophthalmia syndrome.
American journal of medical genetics. Part A 2005;135(1):1-7; discussion 8.
2005: Charlotte M Poloschek; Brian Fowler; Renate Unsold; Birgit Lorenz
Disturbed visual system function in methionine synthase deficiency.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 2005;243(5):497-500.
2005: Karina Paunescu; Bettina Wabbels; Markus N Preising; Birgit Lorenz
Longitudinal and cross-sectional study of patients with early-onset severe retinal dystrophy associated with RPE65 mutations.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 2005;243(5):417-26.
2005: Birgit Lorenz; Markus N Preising
[Best's disease. Overview of pathology and its causes].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 2005;102(2):111-5.
2004: Bettina Wabbels; Birgit Lorenz; Juergen Kohlhase
No evidence of SALL4-mutations in isolated sporadic duane retraction "syndrome" (DURS).
American journal of medical genetics. Part A 2004;131(2):216-8.
2004: Bettina Wabbels; Juergen Kohlhase; Birgit Lorenz
[Clinical and molecular genetic findings in isolated sporadic Duane syndrome].
Klinische Monatsblätter für Augenheilkunde 2004;221(10):849-53.
2004: Bettina Wabbels; Anke Demmler; Johannes Seitz; Matthias Woenckhaus; Heinz-Georg Bloss; Birgit Lorenz
Unilateral adult malignant optic nerve glioma.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 2004;242(9):741-8.
2004: Birgit Lorenz; Bettina Wabbels; Erika Wegscheider; Christian P Hamel; Wolfgang Drexler; Markus N Preising
Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65.
Ophthalmology 2004;111(8):1585-94.
2004: Erika Wegscheider; Markus N Preising; Birgit Lorenz
Fundus autofluorescence in carriers of X-linked recessive retinitis pigmentosa associated with mutations in RPGR, and correlation with electrophysiological and psychophysical data.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 2004;242(6):501-11.
2004: Bettina Wabbels; Heike Elflein; Birgit Lorenz; Gerold Kolling
Bilateral tonic pupils with evidence of anti-hu antibodies as a paraneoplastic manifestation of small cell lung cancer.
Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift für Augenheilkunde 2004;218(2):141-3.
2003: Rita S Sitorus; Birgit Lorenz; Markus N Preising
Analysis of three genes in Leber congenital amaurosis in Indonesian patients.
Vision research 2003;43(28):3087-93.
2003: Markus N Preising; Sabine Schindler; Monika Friedrich; Heinrich Wagener; Ilan Golan; Birgit Lorenz
[On the effect of mutations of the fibroblast growth factor receptors as exemplified by three cases of craniosynostoses].
Klinische Monatsblätter für Augenheilkunde 2003;220(10):669-81.
2003: Rita S Sitorus; Markus N Preising; Birgit Lorenz
Causes of blindness at the "Wiyata Guna" School for the Blind, Indonesia.
The British journal of ophthalmology 2003;87(9):1065-8.
2003: Birgit Lorenz; Monika Andrassi; Ulf Kretschmann
Phenotype in two families with RP3 associated with RPGR mutations.
Ophthalmic genetics 2003;24(2):89-101.
2003: Rita S Sitorus; S M Ardjo; Birgit Lorenz; Markus N Preising
CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients.
Journal of medical genetics 2003;40(1):e9.
2002: Ilan Golan; Uwe Baumert; Heinrich Wagener; J Dauwerse; Markus N Preising; Birgit Lorenz; Herbert Niederdellmann; Dieter Müssig
Atypical expression of cleidocranial dysplasia: clinical and molecular-genetic analysis.
Orthodontics & craniofacial research 2002;5(4):243-9.
2002: S Schindler; M Friedrich; Heinrich Wagener; Birgit Lorenz; Markus N Preising
Heterozygous P250L mutation of fibroblast growth factor receptor 3 in a case of isolated craniosynostosis.
Journal of medical genetics 2002;39(10):764-6.
2002: Christina Gerth; Monika Andrassi-Darida; Markus Bock; Markus N Preising; Bernhard H F Weber; Birgit Lorenz
Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 2002;240(8):628-38.
2002: Martin Zitzlsperger; Michael Salzberger; Birgit Lorenz; Markus N Preising
In search for increased prevalence rates of strabismus and microstrabismus in two Bavarian districts, Oberpfalz and Niederbayern, to spot populations for gene identification.
Strabismus 2002;10(2):163-8.
2002: Birgit Lorenz
Genetics of isolated and syndromic strabismus: facts and perspectives.
Strabismus 2002;10(2):147-56.
2002: Ilan Golan; Uwe Baumert; Heinrich Wagener; Markus N Preising; Birgit Lorenz; Herbert Niederdellmann; Dieter Müssig
Evidence of intrafamilial variability of CBFA1/RUNX2 expression in cleidocranial dysplasia--a family study.
Journal of orofacial orthopedics = Fortschritte der Kieferorthopädie : Organ/official journal Deutsche Gesellschaft für Kieferorthopädie 2002;63(3):190-8.
2002: Birgit Lorenz; Josef Schroeder; Udo Reischl
First evidence of an endogenous Spiroplasma sp. infection in humans manifesting as unilateral cataract associated with anterior uveitis in a premature baby.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 2002;240(5):348-53.
2002: B Motaref; I Schmid; Birgit Lorenz
[Results of surgical management of abducens paralysis].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 2002;99(5):358-62.
2001: Markus N Preising; J P Op de Laak; Birgit Lorenz
Deletion in the OA1 gene in a family with congenital X linked nystagmus.
The British journal of ophthalmology 2001;85(9):1098-103.
2001: B Motaref; Birgit Lorenz
[Value of 10 MHz ultrasound in diagnosis and follow-up of retrobulbar mucocele].
Ultraschall in der Medizin (Stuttgart, Germany : 1980) 2001;22(2):100-3.
2001: Birgit Lorenz; E Gampe
[Analysis of 180 patients with sensory defect nystagmus (SDN) and congenital idiopathic nystagmus (CIN)].
Klinische Monatsblätter für Augenheilkunde 2001;218(1):3-12.
2000: Markus Bock; Christina Gerth; Birgit Lorenz
Impact of notch filter use on waveforms of First- and Second-Order-Kernel responses from multifocal ERGs.
Documenta ophthalmologica. Advances in ophthalmology 2000;101(3):195-210.
2000: Birgit Lorenz; P Gyürüs; Markus N Preising; D Bremser; S Gu; Monika Andrassi; Christina Gerth; A Gal
Early-onset severe rod-cone dystrophy in young children with RPE65 mutations.
Investigative ophthalmology & visual science 2000;41(9):2735-42.
2000: Ilan Golan; Markus N Preising; Heinrich Wagener; Uwe Baumert; Herbert Niederdellmann; Birgit Lorenz; Dieter Müssig
A novel missense mutation of the CBFA1 gene in a family with cleidocranial dysplasia (CCD) and variable expressivity.
Journal of craniofacial genetics and developmental biology 2000;20(3):113-20.
1998: Rüdiger Marmulla; Herbert Niederdellmann; Birgit Lorenz; R Dammer; C Niederdellmann
[A new computer-aided surgical approach for reconstruction of the orbit].
Klinische Monatsblätter für Augenheilkunde 1998;213(5):301-5.
1998: Markus Bock; Monika Andrassi; L Belitsky; Birgit Lorenz
A comparison of two multifocal ERG systems.
Documenta ophthalmologica. Advances in ophthalmology 1998;97(2):157-78.
1997: Birgit Lorenz
[Albinism. Current clinical and molecular genetic aspects of an important differential congenital nystagmus diagnosis].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 1997;94(7):534-44.