Graw, Jochen, Klopp, Norman, Illig, Thomas, Preising, Markus N., Lorenz, Birgit
BACKGROUND: An isolated form of congenital cataract associated with macular hypoplasia and a generally hypopigmented fundus in infancy was observed in a German family. To test the hypothesis that a...
Role of SOX2 mutations in human hippocampal malformations and epilepsy (2006)
Sisodiya, Sanjay M., Ragge, Nicola K., Cavalleri, Gianpiero L., Hever, Ann, Lorenz, Birgit, Schneider, Adele, ...
PURPOSE: Seizures are noted in a significant proportion of cases of de novo, heterozygous, loss-of-function mutations in SOX2, ascertained because of severe bilateral eye malformations. We wished to...
Fundus autofluorescence in children and teenagers with hereditary retinal diseases (2006)
Wabbels, Bettina, Demmler, Anke, Paunescu, Karina, Wegscheider, Erika, Preising, Markus N., Lorenz, Birgit
INTRODUCTION: In adults, evaluation of fundus autofluorescence (AF) plays an important role in the differential diagnosis of retinal diseases. The aim of this study was to evaluate the feasibility of...
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia (2005)
Varsanyi, Balazs, Antunes, Gesine Abadin, Baumann, Britta, Hoyng, Carel B, Jägle, Herbert, ...
Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (
Beysen, Diane, Oley, Christine, Lorenz, Birgit, Cocquet, Julie, De Sutter, Paul, ...
Blepharophimosis syndrome (BPES), an autosomal dominant syndrome in which an eyelid malformation is associated (type I) or not (type II) with premature ovarian failure (POF), has recently been...
BIGH3 Mutation Spectrum in Corneal Dystrophies (2002)
Munier,Francis L., Frueh,Beatrice E., Othenin-Girard,Philippe, Uffer,Sylvie, Cousin,Pascal, Wang,Ming X., ...
PURPOSE. To investigate the molecular pathology underlying BIGH3-related corneal dystrophies (CDs) and to further delineate genotype-phenotype specificity. METHODS. Sixty-one index patients with CDs...
BIGH3 Mutation Spectrum in Corneal Dystrophies (2002)
Munier, Francis L., Frueh, Beatrice E., Othenin-Girard, Philippe, Uffer, Sylvie, Cousin, Pascal, Wang, Ming X., ...
PURPOSE. To investigate the molecular pathology underlying BIGH3-related corneal dystrophies (CDs) and to further delineate genotype-phenotype specificity. METHODS. Sixty-one index patients with CDs...
Meindl, Alfons, Carvalho, Maria Raquel S., Herrmann, Klaus, Lorenz, Bettina, Achatz, Helene, Lorenz, Birgit, ...
X-linked retinitis pigmentosa (XLRP) is characterized by retinal degeneration with night blindness and progressive reduction of the visual fields. By linkage and deletion analysis a gene locus (RP3)...
Halle, Univ., Diss., 1991 (Nicht für den Austausch).
München, Univ., Med. Fak., Diss., 1974.
CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders
Wissinger, Bernd, Gamer, Daphne, Jägle, Herbert, Giorda, Roberto, Marx, Tim, Mayer, Simone, ...
We recently showed that mutations in the CNGA3 gene encoding the α-subunit of the cone photoreceptor cGMP-gated channel cause autosomal recessive complete achromatopsia linked to chromosome 2q11. We...
Rivera, Andrea, White, Karen, Stöhr, Heidi, Steiner, Klaus, Hemmrich, Nadine, Grimm, Timo, ...
Stargardt disease (STGD) is a common autosomal recessive maculopathy of early and young-adult onset and is caused by alterations in the gene encoding the photoreceptor-specific ATP-binding cassette...
Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia
Kohl, Susanne, Baumann, Britta, Rosenberg, Thomas, Kellner, Ulrich, Lorenz, Birgit, Vadalà, Maria, ...
Achromatopsia is an autosomal recessively inherited visual disorder that is present from birth and that features the absence of color discrimination. We here report the identification of five...
De Baere, Elfride, Beysen, Diane, Oley, Christine, Lorenz, Birgit, Cocquet, Julie, De Sutter, Paul, ...
Blepharophimosis syndrome (BPES), an autosomal dominant syndrome in which an eyelid malformation is associated (type I) or not (type II) with premature ovarian failure (POF), has recently been...
Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations
Ragge, Nicola K., Brown, Alison G., Poloschek, Charlotte M., Lorenz, Birgit, Henderson, R. Alex, Clarke, Michael P., ...
Major malformations of the human eye, including microphthalmia and anophthalmia, are examples of phenotypes that recur in families yet often show no clear Mendelian inheritance pattern. Defining loci...
CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders
Wissinger, Bernd, Gamer, Daphne, Jägle, Herbert, Giorda, Roberto, Marx, Tim, Mayer, Simone, ...
We recently showed that mutations in the CNGA3 gene encoding the α-subunit of the cone photoreceptor cGMP-gated channel cause autosomal recessive complete achromatopsia linked to chromosome 2q11. We...
Rivera, Andrea, White, Karen, Stöhr, Heidi, Steiner, Klaus, Hemmrich, Nadine, Grimm, Timo, ...
Stargardt disease (STGD) is a common autosomal recessive maculopathy of early and young-adult onset and is caused by alterations in the gene encoding the photoreceptor-specific ATP-binding cassette...
Sharma, Shiwani, Burdon, Kathryn P., Dave, Alpana, Jamieson, Robyn V., Yaron, Yuval, Billson, Frank, ...
D'haene, Barbara, Attanasio, Catia, Beysen, Diane, Dostie, Josée, Lemire, Edmond, Bouchard, Philippe, ...
To date, the contribution of disrupted potentially cis-regulatory conserved non-coding sequences (CNCs) to human disease is most likely underestimated, as no systematic screens for putative...