PubMed

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand-Saïd S, Bujakowska K, Nandrot EF, Lorenz B, Preising M, Kellner U, Renner AB, Bernd A, Antonio A, Moskova-Doumanova V, Lancelot ME, Poloschek CM, Drumare I, Defoort-Dhellemmes S, Wissinger B, Léveillard T, Hamel CP, Schorderet DF, De Baere E, Berger W, Jacobson SG, Zrenner E, Sahel JA, Bhattacharya SS, Zeitz C.

Am J Hum Genet. 2009 Nov;85(5):720-9. Epub 2009 Nov 5.PMID: 19896113 [PubMed - in process]Related articles

Expression of the diabetes risk gene wolframin (WFS1) in the human retina.

Schmidt-Kastner R, Kreczmanski P, Preising M, Diederen R, Schmitz C, Reis D, Blanks J, Dorey CK.

Exp Eye Res. 2009 Oct;89(4):568-74. Epub 2009 Jun 12.PMID: 19523951 [PubMed - in process]Related articles

Fundus autofluorescence in carriers of choroideremia and correlation with electrophysiologic and psychophysical data.

Preising MN, Wegscheider E, Friedburg C, Poloschek CM, Wabbels BK, Lorenz B.

Ophthalmology. 2009 Jun;116(6):1201-9.e1-2. Epub 2009 Apr 19.PMID: 19376587 [PubMed - indexed for MEDLINE]Related articles

[Genetic diseases of the retinal pigment epithelium]

Preising MN, Lorenz B.

Ophthalmologe. 2009 Apr;106(4):311-9. Review. German. PMID: 19343351 [PubMed - indexed for MEDLINE]Related articles

A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation.

Lorenz B, Poliakov E, Schambeck M, Friedburg C, Preising MN, Redmond TM.

Invest Ophthalmol Vis Sci. 2008 Dec;49(12):5235-42. Epub 2008 Jul 3.PMID: 18599565 [PubMed - indexed for MEDLINE]Related articles

Hypoxia-regulated components of the U4/U6.U5 tri-small nuclear riboprotein complex: possible role in autosomal dominant retinitis pigmentosa.

Schmidt-Kastner R, Yamamoto H, Hamasaki D, Yamamoto H, Parel JM, Schmitz C, Dorey CK, Blanks JC, Preising MN.

Mol Vis. 2008 Jan 25;14:125-35.PMID: 18334927 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches.

Preising MN, Forster H, Tan H, Lorenz B, de Jong PT, Plomp AS.

Mol Vis. 2007 Oct 2;13:1851-5.PMID: 17960121 [PubMed - indexed for MEDLINE]Related articlesFree article

[Genetic and clinical heterogeneity in LCA patients. The end of uniformity]

Preising MN, Paunescu K, Friedburg C, Lorenz B.

Ophthalmologe. 2007 Jun;104(6):490-8. German. PMID: 17525851 [PubMed - indexed for MEDLINE]Related articles

Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame.

Paunescu K, Preising MN, Janke B, Wissinger B, Lorenz B.

Ophthalmology. 2007 Jul;114(7):1348-1357.e1. Epub 2007 Feb 22. Review.PMID: 17320181 [PubMed - indexed for MEDLINE]Related articles

Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram.

Renner AB, Kellner U, Cropp E, Preising MN, MacDonald IM, van den Hurk JA, Cremers FP, Foerster MH.

Ophthalmology. 2006 Nov;113(11):2066.e1-10. Epub 2006 Aug 28.PMID: 16935340 [PubMed - indexed for MEDLINE]Related articles

Assessment of cortical visual field representations with multifocal VEPs in control subjects, patients with albinism, and female carriers of ocular albinism.

Hoffmann MB, Lorenz B, Preising M, Seufert PS.

Invest Ophthalmol Vis Sci. 2006 Jul;47(7):3195-201.PMID: 16799067 [PubMed - indexed for MEDLINE]Related articlesFree article

Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophy.

Wabbels B, Preising MN, Kretschmann U, Demmler A, Lorenz B.

Graefes Arch Clin Exp Ophthalmol. 2006 Nov;244(11):1453-66. Epub 2006 Apr 13.PMID: 16612637 [PubMed - indexed for MEDLINE]Related articles

Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P.

Graw J, Klopp N, Illig T, Preising MN, Lorenz B.

Graefes Arch Clin Exp Ophthalmol. 2006 Aug;244(8):912-9. Epub 2006 Feb 2.PMID: 16453125 [PubMed - indexed for MEDLINE]Related articles

Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.

Zernant J, Külm M, Dharmaraj S, den Hollander AI, Perrault I, Preising MN, Lorenz B, Kaplan J, Cremers FP, Maumenee I, Koenekoop RK, Allikmets R.

Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3052-9.PMID: 16123401 [PubMed - indexed for MEDLINE]Related articlesFree article

Predominant rod photoreceptor degeneration in Leber congenital amaurosis.

van der Spuy J, Munro PM, Luthert PJ, Preising MN, Bek T, Heegaard S, Cheetham ME.

Mol Vis. 2005 Jul 22;11:542-53.PMID: 16052170 [PubMed - indexed for MEDLINE]Related articlesFree article

Fundus autofluorescence in children and teenagers with hereditary retinal diseases.

Wabbels B, Demmler A, Paunescu K, Wegscheider E, Preising MN, Lorenz B.

Graefes Arch Clin Exp Ophthalmol. 2006 Jan;244(1):36-45. Epub 2005 Jul 21.PMID: 16034607 [PubMed - indexed for MEDLINE]Related articles

[Best's disease. Overview of pathology and its causes]

Lorenz B, Preising MN.

Ophthalmologe. 2005 Feb;102(2):111-5. Review. German. PMID: 15657691 [PubMed - indexed for MEDLINE]Related articles

Age matters--thoughts on a grading system for ABCA4 mutations.

Lorenz B, Preising MN.

Graefes Arch Clin Exp Ophthalmol. 2005 Feb;243(2):87-9. Epub 2004 Dec 22. No abstract available. PMID: 15614538 [PubMed - indexed for MEDLINE]Related articles

Longitudinal and cross-sectional study of patients with early-onset severe retinal dystrophy associated with RPE65 mutations.

Paunescu K, Wabbels B, Preising MN, Lorenz B.

Graefes Arch Clin Exp Ophthalmol. 2005 May;243(5):417-26. Epub 2004 Nov 24.PMID: 15565294 [PubMed - indexed for MEDLINE]Related articles

Rab escort protein 1 (REP1) in intracellular traffic: a functional and pathophysiological overview.

Preising M, Ayuso C.

Ophthalmic Genet. 2004 Jun;25(2):101-10. Review.PMID: 15370541 [PubMed - indexed for MEDLINE]Related articles

Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65.

Lorenz B, Wabbels B, Wegscheider E, Hamel CP, Drexler W, Preising MN.

Ophthalmology. 2004 Aug;111(8):1585-94.PMID: 15288992 [PubMed - indexed for MEDLINE]Related articles

Fundus autofluorescence in carriers of X-linked recessive retinitis pigmentosa associated with mutations in RPGR, and correlation with electrophysiological and psychophysical data.

Wegscheider E, Preising MN, Lorenz B.

Graefes Arch Clin Exp Ophthalmol. 2004 Jun;242(6):501-11. Epub 2004 May 29.PMID: 15173948 [PubMed - indexed for MEDLINE]Related articles

Recent advances in early-onset severe retinal degeneration: more than just basic research.

Preising MN, Heegard S.

Trends Mol Med. 2004 Feb;10(2):51-4. Review.PMID: 15106616 [PubMed - indexed for MEDLINE]Related articles

Analysis of three genes in Leber congenital amaurosis in Indonesian patients.

Sitorus RS, Lorenz B, Preising MN.

Vision Res. 2003 Dec;43(28):3087-93.PMID: 14611946 [PubMed - indexed for MEDLINE]Related articles

[On the effect of mutations of the fibroblast growth factor receptors as exemplified by three cases of craniosynostoses]

Preising MN, Schindler S, Friedrich M, Wagener H, Golan I, Lorenz B.

Klin Monbl Augenheilkd. 2003 Oct;220(10):669-81. German. PMID: 14577033 [PubMed - indexed for MEDLINE]Related articles

Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene.

Rudolph G, Preising M, Kalpadakis P, Haritoglou C, Lang GE, Lorenz B.

Ophthalmic Genet. 2003 Dec;24(4):203-14. Erratum in: Ophthalmic Genet. 2004 Mar;25(1):65. PMID: 14566650 [PubMed - indexed for MEDLINE]Related articles

Causes of blindness at the "Wiyata Guna" School for the Blind, Indonesia.

Sitorus R, Preising M, Lorenz B.

Br J Ophthalmol. 2003 Sep;87(9):1065-8.PMID: 12928266 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Heegaard S, Rosenberg T, Preising M, Prause JU, Bek T.

Br J Ophthalmol. 2003 Aug;87(8):980-3.PMID: 12881340 [PubMed - indexed for MEDLINE]Related articlesFree article

[Framework for qualified inpatient withdrawal treatment of alcoholics in North Rhine-Westphalia]

Reymann G, Preising M.

Versicherungsmedizin. 2003 Mar 1;55(1):27-32. German. PMID: 12652929 [PubMed - indexed for MEDLINE]Related articles

CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients.

Sitorus R, Ardjo SM, Lorenz B, Preising M.

J Med Genet. 2003 Jan;40(1):e9. No abstract available. PMID: 12525557 [PubMed - indexed for MEDLINE]Related articlesFree article

Atypical expression of cleidocranial dysplasia: clinical and molecular-genetic analysis.

Golan I, Baumert U, Wagener H, Dauwerse J, Preising M, Lorenz B, Niederdellmann H, Müssig D.

Orthod Craniofac Res. 2002 Nov;5(4):243-9.PMID: 12416539 [PubMed - indexed for MEDLINE]Related articles

Heterozygous P250L mutation of fibroblast growth factor receptor 3 in a case of isolated craniosynostosis.

Schindler S, Friedrich M, Wagener H, Lorenz B, Preising MN.

J Med Genet. 2002 Oct;39(10):764-6. No abstract available. PMID: 12362036 [PubMed - indexed for MEDLINE]Related articlesFree article

In search for increased prevalence rates of strabismus and microstrabismus in two Bavarian districts, Oberpfalz and Niederbayern, to spot populations for gene identification.

Zitzlsperger M, Salzberger M, Lorenz B, Preising M.

Strabismus. 2002 Jun;10(2):163-8.PMID: 12221496 [PubMed - indexed for MEDLINE]Related articles

Towards identification of genes in regionally accumulated strabismus.

Preising M.

Strabismus. 2002 Jun;10(2):157-61.PMID: 12221495 [PubMed - indexed for MEDLINE]Related articles

Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation.

Gerth C, Andrassi-Darida M, Bock M, Preising MN, Weber BH, Lorenz B.

Graefes Arch Clin Exp Ophthalmol. 2002 Aug;240(8):628-38. Epub 2002 Jul 4.PMID: 12192456 [PubMed - indexed for MEDLINE]Related articles

Evidence of intrafamilial variability of CBFA1/RUNX2 expression in cleidocranial dysplasia--a family study.

Golan I, Baumert U, Wagener H, Preising M, Lorenz B, Niederdellmann H, Müssig D.

J Orofac Orthop. 2002 May;63(3):190-8. English, German. PMID: 12132307 [PubMed - indexed for MEDLINE]Related articles

Deletion in the OA1 gene in a family with congenital X linked nystagmus.

Preising M, Op de Laak JP, Lorenz B.

Br J Ophthalmol. 2001 Sep;85(9):1098-103.PMID: 11520764 [PubMed - indexed for MEDLINE]Related articlesFree article

A novel missense mutation of the CBFA1 gene in a family with cleidocranial dysplasia (CCD) and variable expressivity.

Golan I, Preising M, Wagener H, Baumert U, Niederdellmann H, Lorenz B, Müssig D.

J Craniofac Genet Dev Biol. 2000 Jul-Sep;20(3):113-20.PMID: 11321595 [PubMed - indexed for MEDLINE]Related articles

Early-onset severe rod-cone dystrophy in young children with RPE65 mutations.

Lorenz B, Gyürüs P, Preising M, Bremser D, Gu S, Andrassi M, Gerth C, Gal A.

Invest Ophthalmol Vis Sci. 2000 Aug;41(9):2735-42.PMID: 10937591 [PubMed - indexed for MEDLINE]Related articlesFree article

IRPA scientific newsletter--a new website to integrate data on hereditary retinal disorders.

Preising M, Lorenz B.

Ophthalmic Genet. 1998 Dec;19(4):213-4. No abstract available. PMID: 9895247 [PubMed - indexed for MEDLINE]Related articles