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Items: 1 to 20 of 100

1.

The Expression of Decidual Protein Induced by Progesterone (DEPP) is Controlled by Three Distal Consensus Hypoxia Responsive Element (HRE) in Hypoxic Retinal Epithelial Cells.

Klee K, Storti F, Maggi J, Todorova V, Karademir D, Berger W, Samardzija M, Grimm C.

Genes (Basel). 2020 Jan 18;11(1). pii: E111. doi: 10.3390/genes11010111.

2.

Integrin-linked kinase controls retinal angiogenesis and is linked to Wnt signaling and exudative vitreoretinopathy.

Park H, Yamamoto H, Mohn L, Ambühl L, Kanai K, Schmidt I, Kim KP, Fraccaroli A, Feil S, Junge HJ, Montanez E, Berger W, Adams RH.

Nat Commun. 2019 Nov 20;10(1):5243. doi: 10.1038/s41467-019-13220-3.

3.

Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia.

Atac D, Koller S, Hanson JVM, Feil S, Tiwari A, Bahr A, Baehr L, Magyar I, Kottke R, Gerth-Kahlert C, Berger W.

Hum Mol Genet. 2020 Jan 1;29(1):132-148. doi: 10.1093/hmg/ddz268.

PMID:
31696227
4.

Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa.

Gerth-Kahlert C, Koller S, Hanson JVM, Baehr L, Tiwari A, Kivrak-Pfiffner F, Bahr A, Berger W.

Invest Ophthalmol Vis Sci. 2019 Jul 1;60(8):2822-2835. doi: 10.1167/iovs.18-25643.

PMID:
31260034
5.

Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans.

Knöpfel EB, Vilches C, Camargo SMR, Errasti-Murugarren E, Stäubli A, Mayayo C, Munier FL, Miroshnikova N, Poncet N, Junza A, Bhattacharya SS, Prat E, Berry V, Berger W, Heon E, Moore AT, Yanes Ó, Nunes V, Palacín M, Verrey F, Kloeckener-Gruissem B.

Front Physiol. 2019 Jun 4;10:688. doi: 10.3389/fphys.2019.00688. eCollection 2019.

6.

Cystoid edema, neovascularization and inflammatory processes in the murine Norrin-deficient retina.

Beck SC, Karlstetter M, Garcia Garrido M, Feng Y, Dannhausen K, Mühlfriedel R, Sothilingam V, Seebauer B, Berger W, Hammes HP, Seeliger MW, Langmann T.

Sci Rep. 2018 Apr 13;8(1):5970. doi: 10.1038/s41598-018-24476-y.

7.

Effects of COMT genotype and tolcapone on lapses of sustained attention after sleep deprivation in healthy young men.

Valomon A, Holst SC, Borrello A, Weigend S, Müller T, Berger W, Sommerauer M, Baumann CR, Landolt HP.

Neuropsychopharmacology. 2018 Jun;43(7):1599-1607. doi: 10.1038/s41386-018-0018-8. Epub 2018 Feb 5.

8.

Exome analysis in 34 sudden unexplained death (SUD) victims mainly identified variants in channelopathy-associated genes.

Neubauer J, Lecca MR, Russo G, Bartsch C, Medeiros-Domingo A, Berger W, Haas C.

Int J Legal Med. 2018 Jul;132(4):1057-1065. doi: 10.1007/s00414-018-1775-y. Epub 2018 Jan 19.

PMID:
29350269
9.

Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147.

Stäubli A, Capatina N, Fuhrer Y, Munier FL, Labs S, Schorderet DF, Tiwari A, Verrey F, Heon E, Cheng CY, Wong TY, Berger W, Camargo SMR, Kloeckener-Gruissem B.

Hum Mol Genet. 2017 Nov 1;26(21):4203-4214. doi: 10.1093/hmg/ddx310.

PMID:
29088427
10.

Unusual retinopathy in a child with severe combined immune deficiency.

Gerth-Kahlert C, Tiwari A, Hauri-Hohl MM, Hanson JVM, Bahr A, Palmowski-Wolfe A, Güngör T, Berger W.

Ophthalmic Genet. 2018 Jan-Feb;39(1):92-94. doi: 10.1080/13816810.2017.1350721. Epub 2017 Aug 16.

PMID:
28812413
11.

C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.

Gerth-Kahlert C, Tiwari A, Hanson JVM, Batmanabane V, Traboulsi E, Pennesi ME, Al-Qahtani AA, Lam BL, Heckenlively J, Zweifel SA, Vincent A, Fierz F, Barthelmes D, Branham K, Khan N, Bahr A, Baehr L, Magyar I, Koller S, Azzarello-Burri S, Niedrist D, Heon E, Berger W.

Invest Ophthalmol Vis Sci. 2017 Aug 1;58(10):3840-3850. doi: 10.1167/iovs.17-21597.

12.

Long-term consequences of developmental vascular defects on retinal vessel homeostasis and function in a mouse model of Norrie disease.

Beck SC, Feng Y, Sothilingam V, Garcia Garrido M, Tanimoto N, Acar N, Shan S, Seebauer B, Berger W, Hammes HP, Seeliger MW.

PLoS One. 2017 Jun 2;12(6):e0178753. doi: 10.1371/journal.pone.0178753. eCollection 2017.

13.

Functional Polymorphisms in Dopaminergic Genes Modulate Neurobehavioral and Neurophysiological Consequences of Sleep Deprivation.

Holst SC, Müller T, Valomon A, Seebauer B, Berger W, Landolt HP.

Sci Rep. 2017 Apr 10;7:45982. doi: 10.1038/srep45982.

14.

Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases.

Neubauer J, Lecca MR, Russo G, Bartsch C, Medeiros-Domingo A, Berger W, Haas C.

Eur J Hum Genet. 2017 Apr;25(4):404-409. doi: 10.1038/ejhg.2016.199. Epub 2017 Jan 11.

15.

A case-control field study on the relationships among type 2 diabetes, sleepiness and habitual caffeine intake.

Urry E, Jetter A, Holst SC, Berger W, Spinas GA, Langhans W, Landolt HP.

J Psychopharmacol. 2017 Feb;31(2):233-242. doi: 10.1177/0269881116668595. Epub 2016 Sep 27.

PMID:
27649774
16.

Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations.

Tiwari A, Lemke J, Altmueller J, Thiele H, Glaus E, Fleischhauer J, Nürnberg P, Neidhardt J, Berger W.

PLoS One. 2016 Jul 8;11(7):e0158692. doi: 10.1371/journal.pone.0158692. eCollection 2016.

17.

Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

Tiwari A, Bahr A, Bähr L, Fleischhauer J, Zinkernagel MS, Winkler N, Barthelmes D, Berger L, Gerth-Kahlert C, Neidhardt J, Berger W.

Sci Rep. 2016 Jun 29;6:28755. doi: 10.1038/srep28755.

18.

Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis.

Vincent A, Ng J, Gerth-Kahlert C, Tavares E, Maynes JT, Wright T, Tiwari A, Tumber A, Li S, Hanson JV, Bahr A, MacDonald H, Bähr L, Westall C, Berger W, Cremers FP, den Hollander AI, Héon E.

Invest Ophthalmol Vis Sci. 2016 May 1;57(6):2637-46. doi: 10.1167/iovs.15-18281.

19.

Arrhythmogenic right ventricular cardiomyopathy: implications of next-generation sequencing in appropriate diagnosis.

Medeiros-Domingo A, Saguner AM, Magyar I, Bahr A, Akdis D, Brunckhorst C, Duru F, Berger W.

Europace. 2017 Jun 1;19(6):1063-1069. doi: 10.1093/europace/euw098.

PMID:
27194543
20.

Erratum to: Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases.

Neubauer J, Haas C, Bartsch C, Medeiros-Domingo A, Berger W.

Int J Legal Med. 2016 Jul;130(4):1023. doi: 10.1007/s00414-016-1346-z. No abstract available.

PMID:
26966097

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