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Papers authored by Preising M

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TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness.

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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,

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American journal of human genetics 85(5):720-9, 2009 Nov - Who cited this? | PubMed ID: 19896113 | Fulltext

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

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

Experimental eye research 89(4):568-74, 2009 Oct - Who cited this? | PubMed ID: 19523951 | Fulltext

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

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

Ophthalmology 116(6):1201-9.e1-2, 2009 Jun - Who cited this? | PubMed ID: 19376587 | Fulltext

[Genetic diseases of the retinal pigment epithelium.].

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Preising MN and Lorenz B

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 106(4):311-9, 2009 Apr - Who cited this? | PubMed ID: 19343351 | Fulltext

A novel RPE65 hypomorph expands the clinical phenotype of RPE65 mutations. A comprehensive clinical and biochemical functional study.

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

Investigative ophthalmology & visual science, 2008 Jul 3 - Who cited this? | PubMed ID: 18599565 | Fulltext

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

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

Molecular vision 14:125, 2008 - Who cited this? | PubMed ID: 18334927 | Fulltext

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

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

Ophthalmology 114(7):1348-1357.e1, 2007 Jul - Who cited this? | PubMed ID: 17320181 | Fulltext

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

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

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 104(6):490-8, 2007 Jun - Who cited this? | PubMed ID: 17525851 | Fulltext

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

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

Molecular vision 13:1851, 2007 - Who cited this? | PubMed ID: 17960121 | Fulltext

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

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

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 244(11):1453, 2006 Nov - Who cited this? | PubMed ID: 16612637 | Fulltext

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

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

Ophthalmology 113(11):2066.e1-10, 2006 Nov - Who cited this? | PubMed ID: 16935340 | Fulltext

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

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

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 244(8):912-9, 2006 Aug - Who cited this? | PubMed ID: 16453125 | Fulltext

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

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

Investigative ophthalmology & visual science 47(7):3195, 2006 Jul - Who cited this? | PubMed ID: 16799067 | Fulltext

Fundus autofluorescence in children and teenagers with hereditary retinal diseases.

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

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 244(1):36-45, 2006 Jan - Who cited this? | PubMed ID: 16034607 | Fulltext

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

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

Investigative ophthalmology & visual science 46(9):3052-9, 2005 Sep - Who cited this? | PubMed ID: 16123401 | Fulltext

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

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

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 243(5):417-26, 2005 May - Who cited this? | PubMed ID: 15565294 | Fulltext

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

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Lorenz B and Preising MN

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 102(2):111-5, 2005 Feb - Who cited this? | PubMed ID: 15657691 | Fulltext

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

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Lorenz B and Preising MN

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 243(2):87-9, 2005 Feb - Who cited this? | PubMed ID: 15614538 | Fulltext

Predominant rod photoreceptor degeneration in Leber congenital amaurosis.

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

Molecular vision 11:542, 2005 - Who cited this? | PubMed ID: 16052170 | Fulltext

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

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

Ophthalmology 111(8):1585-94, 2004 Aug - Who cited this? | PubMed ID: 15288992 | Fulltext

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

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Wegscheider E, Preising MN, and Lorenz B

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 242(6):501-11, 2004 Jun - Who cited this? | PubMed ID: 15173948 | Fulltext

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

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Preising M and Ayuso C

Ophthalmic genetics 25(2):101-10, 2004 Jun - Who cited this? | PubMed ID: 15370541 | Fulltext

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

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Preising MN and Heegard S

Trends in molecular medicine 10(2):51-4, 2004 Feb - Who cited this? | PubMed ID: 15106616 | Fulltext

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

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

Ophthalmic genetics 24(4):203-14, 2003 Dec - Who cited this? | PubMed ID: 14566650 | Fulltext

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

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Sitorus RS, Lorenz B, and Preising MN

Vision research 43(28):3087-93, 2003 Dec - Who cited this? | PubMed ID: 14611946 | Fulltext

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

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

Klinische Monatsblatter fur Augenheilkunde 220(10):669-81, 2003 Oct - Who cited this? | PubMed ID: 14577033 | Fulltext

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

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Sitorus R, Preising M, and Lorenz B

The British journal of ophthalmology 87(9):1065-8, 2003 Sep - Who cited this? | PubMed ID: 12928266 | Fulltext

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

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

The British journal of ophthalmology 87(8):980-3, 2003 Aug - Who cited this? | PubMed ID: 12881340 | Fulltext

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

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Reymann G and Preising M

Versicherungsmedizin / herausgegeben von Verband der Lebensversicherungs-Unternehmen e.V. und Verband der Privaten Krankenversicherung e.V 55(1):27-32, 2003 Mar 1 - Who cited this? | PubMed ID: 12652929 | Fulltext

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

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

Journal of medical genetics 40(1):e9, 2003 Jan - Who cited this? | PubMed ID: 12525557 | Fulltext

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

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

Orthodontics & craniofacial research 5(4):243-9, 2002 Nov - Who cited this? | PubMed ID: 12416539 | Fulltext

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

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

Journal of medical genetics 39(10):764-6, 2002 Oct - Who cited this? | PubMed ID: 12362036 | Fulltext

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

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

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 240(8):628-38, 2002 Aug - Who cited this? | PubMed ID: 12192456 | Fulltext

Towards identification of genes in regionally accumulated strabismus.

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Preising M

Strabismus 10(2):157-61, 2002 Jun - Who cited this? | PubMed ID: 12221495 | Fulltext

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

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Zitzlsperger M, Salzberger M, Lorenz B, and Preising M

Strabismus 10(2):163-8, 2002 Jun - Who cited this? | PubMed ID: 12221496 | Fulltext

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

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

Journal of orofacial orthopedics = Fortschritte der Kieferorthopadie : Organ/official journal Deutsche Gesellschaft fur Kieferorthopadie 63(3):190-8, 2002 May - Who cited this? | PubMed ID: 12132307 | Fulltext

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

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Preising M, Op de Laak JP, and Lorenz B

The British journal of ophthalmology 85(9):1098-103, 2001 Sep - Who cited this? | PubMed ID: 11520764 | Fulltext

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

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

Investigative ophthalmology & visual science 41(9):2735-42, 2000 Aug - Who cited this? | PubMed ID: 10937591 | Fulltext

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

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

Journal of craniofacial genetics and developmental biology 20(3):113-20, 2000 - Who cited this? | PubMed ID: 11321595 | Fulltext

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

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Preising M and Lorenz B

Ophthalmic genetics 19(4):213-4, 1998 Dec - Who cited this? | PubMed ID: 9895247 | Fulltext

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