Anja K Mayer
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Explore the profile of Anja K Mayer including associated specialties, affiliations and a list of published articles.
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14
Citations
383
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Recent Articles
1.
Kohl S, Baumann B, Dassie F, Mayer A, Solaki M, Reuter P, et al.
Int J Mol Sci
. 2021 Aug;
22(15).
PMID: 34360608
Achromatopsia (ACHM) is a rare autosomal recessively inherited retinal disease characterized by congenital photophobia, nystagmus, low visual acuity, and absence of color vision. ACHM is genetically heterogeneous and can be...
2.
Mayer A, Balousha G, Sharkia R, Mahajnah M, Ayesh S, Schulze M, et al.
Eur J Hum Genet
. 2020 Jan;
28(6):742-753.
PMID: 31896775
Visual impairment due to inherited ophthalmic disorders is amongst the most common disabilities observed in populations practicing consanguineous marriages. Here we investigated the molecular genetic basis of an unselected broad...
3.
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus
Mayer A, Mahajnah M, Thomas M, Cohen Y, Habib A, Schulze M, et al.
Brain
. 2019 Apr;
142(6):1528-1534.
PMID: 31009037
Herein we present a consanguineous family with three children affected by foveal hypoplasia with infantile nystagmus, following an autosomal recessive mode of inheritance. The patients showed normal electroretinography responses, no...
4.
Schmidt J, Mayer A, Bakula D, Freude J, Weber J, Weiss A, et al.
Hum Mol Genet
. 2018 Dec;
28(9):1463-1473.
PMID: 30576445
Spinocerebellar ataxia type 3 (SCA3) is caused by the expansion of CAG repeats in the ATXN3 gene leading to an elongated polyglutamine tract in the ataxin-3 protein. Previously, we demonstrated...
5.
Burkard M, Kohl S, Kratzig T, Tanimoto N, Brennenstuhl C, Bausch A, et al.
J Clin Invest
. 2018 Nov;
128(12):5663-5675.
PMID: 30418171
Mutations in CNGA3 and CNGB3, the genes encoding the subunits of the tetrameric cone photoreceptor cyclic nucleotide-gated ion channel, cause achromatopsia, a congenital retinal disorder characterized by loss of cone...
6.
Van Schil K, Naessens S, Van de Sompele S, Carron M, Aslanidis A, Van Cauwenbergh C, et al.
Genet Med
. 2018 Oct;
21(8):1998.
PMID: 30297699
The original version of this Article contained an error in the spelling of the author Anja K. Mayer, which was incorrectly given as Anja Kathrin Mayer. This has now been...
7.
Mayer A, Van Cauwenbergh C, Rother C, Baumann B, Reuter P, De Baere E, et al.
Hum Mutat
. 2017 Aug;
38(11):1579-1591.
PMID: 28795510
Achromatopsia is a rare autosomal recessive cone disorder characterized by color vision defects, photophobia, nystagmus, and severely reduced visual acuity. The disease is caused by mutations in genes encoding crucial...
8.
Stingl K, Mayer A, Llavona P, Mulahasanovic L, Rudolph G, Jacobson S, et al.
Sci Rep
. 2017 Aug;
7(1):6992.
PMID: 28765526
We report ophthalmic and genetic findings in patients with autosomal recessive retinitis pigmentosa (RP), cone-rod dystrophy (CRD) or cone dystrophy (CD) harboring potential pathogenic variants in the CDHR1 gene. Detailed...
9.
Weisschuh N, Mayer A, Strom T, Kohl S, Glockle N, Schubach M, et al.
PLoS One
. 2016 Jan;
11(1):e0145951.
PMID: 26766544
Retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by clinical variability and pronounced genetic heterogeneity. The different nonsyndromic and syndromic forms of RD can be attributed...
10.
Mayer A, Rohrschneider K, Strom T, Glockle N, Kohl S, Wissinger B, et al.
Eur J Hum Genet
. 2015 Jul;
24(3):459-62.
PMID: 26153215
Several genes have been implicated in the autosomal recessive form of cone-rod dystrophy (CRD), but the majority of cases remain unsolved. We identified a homozygous interval comprising two known genes...