Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Steffen Lenzner"'
Autor:
Abdulaziz A. Alshamrani, Osama Raddadi, Patrik Schatz, Steffen Lenzner, Christine Neuhaus, Eman Azzam, Ehab Abdelkader
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 19, Iss , Pp 100780- (2020)
Purpose: To report a severe phenotype of retinitis pigmentosa associated with novel mutations in CNGB1. Observations: Six siblings, age range 50–75 years old, were examined using optical coherence tomography and fundus autofluorescene, electroretin
Externí odkaz:
https://doaj.org/article/a1e3445a697c41f3bb31b74cc1cdac30
Autor:
Johannes Birtel, Martin Gliem, Elisabeth Mangold, Philipp L Müller, Frank G Holz, Christine Neuhaus, Steffen Lenzner, Diana Zahnleiter, Christian Betz, Tobias Eisenberger, Hanno J Bolz, Peter Charbel Issa
Publikováno v:
PLoS ONE, Vol 13, Iss 12, p e0207958 (2018)
Retinitis pigmentosa (RP) is an inherited degenerative disease causing severe retinal dystrophy and visual impairment mainly with onset in infancy or adolescence. Targeted next-generation sequencing (NGS) has become an efficient tool to encounter the
Externí odkaz:
https://doaj.org/article/59d03f6dbc674dc59bc1333e3bf03700
Autor:
Mojgan Drasdo, Moustafa S. Magliyah, Steffen Lenzner, Abrar K. Alsalamah, Sinje Geuer, Patrik Schatz
Publikováno v:
JAMA Ophthalmol
Importance: Homozygous variants in the neuronal ceroid lipofuscinosis type 5 (CLN5) gene are associated with neuronal ceroid lipofuscinosis, a progressive neurologic disorder that leads to ataxia, seizures, and early death. The association between a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2442ba7d28f9926534c00d9781e37cc
https://europepmc.org/articles/PMC7844694/
https://europepmc.org/articles/PMC7844694/
Autor:
Osama Raddadi, Eman Azzam, Abdulaziz A Alshamrani, Christine Neuhaus, Patrik Schatz, Steffen Lenzner, Ehab Abdelkader
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 19, Iss, Pp 100780-(2020)
American Journal of Ophthalmology Case Reports
American Journal of Ophthalmology Case Reports
Purpose: To report a severe phenotype of retinitis pigmentosa associated with novel mutations in CNGB1. Observations: Six siblings, age range 50–75 years old, were examined using optical coherence tomography and fundus autofluorescene, electroretin
Publikováno v:
Ophthalmic Genetics. 38:380-382
To document recessive FZD4-related familial exudative vitreoretinopathy.Retrospective case series.Two brothers, the only two males among five siblings, had bilateral infantile retinal detachments and were referred for genetic counseling. Next-generat
Publikováno v:
DMW - Deutsche Medizinische Wochenschrift. 141:571-573
Anamnese und Beschwerden | Eine 53-jahrige Patientin mit rezidivierenden polyarthralgischen Beschwerden stellte sich nach einer ergebnislos verlaufenen rheumatologischen Abklarung wegen einer auf einen nicht messbaren Wert erniedrigten Harnsaurekonze
Publikováno v:
Clinical Genetics. 90:96-98
Autor:
Philipp L. Müller, Frank G. Holz, Christian Betz, Diana Zahnleiter, Steffen Lenzner, Philipp Herrmann, Peter Charbel Issa, Christine Neuhaus, Elisabeth Mangold, Tobias Eisenberger, Martin Gliem, Hanno J. Bolz, Johannes Birtel
Publikováno v:
Scientific Reports
Scientific Reports, Vol 8, Iss 1, Pp 1-11 (2018)
Scientific Reports, Vol 8, Iss 1, Pp 1-11 (2018)
Macular and cone/cone-rod dystrophies (MD/CCRD) demonstrate a broad genetic and phenotypic heterogeneity, with retinal alterations solely or predominantly involving the central retina. Targeted next-generation sequencing (NGS) is an efficient diagnos
Publikováno v:
Clinical genetics. 93(1)
To uncover the genotype underlying early-onset cone-rod dystrophy and central nummular macular atrophic lesion in 2 siblings from an endogamous Arab family, we performed targeted next-generation sequencing (NGS) of 44 retinal dystrophy genes, whole-e
Autor:
Philipp L. Müller, Elisabeth Mangold, Martin Gliem, Johannes Birtel, Hanno J. Bolz, Diana Zahnleiter, Tobias Eisenberger, Steffen Lenzner, Christine Neuhaus, Christian Betz, Peter Charbel Issa, Frank G. Holz
Publikováno v:
PLoS ONE
PLoS ONE, Vol 13, Iss 12, p e0207958 (2018)
PLoS ONE, Vol 13, Iss 12, p e0207958 (2018)
Retinitis pigmentosa (RP) is an inherited degenerative disease causing severe retinal dystrophy and visual impairment mainly with onset in infancy or adolescence. Targeted next-generation sequencing (NGS) has become an efficient tool to encounter the