Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1432-1203
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Anmerkungen
-
online resource.
- Erschienen in
-
Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects ; volume:140 ; number:8 ; day:11 ; month:5 ; year:2021 ; pages:1143-1156 ; date:8.2021
Human genetics; 140, Heft 8 (11.5.2021), 1143-1156, 8.2021
- Urheber
-
Janecke, Andreas
Liu, Xiaoqin
Adam, Rüdiger
Punuru, Sumanth
Viestenz, Arne
Strauß, Valeria
Laass, Martin
Sanchez, Elizabeth
Adachi, Roberto
Schatz, Martha P.
Saboo, Ujwala S.
Mittal, Naveen
Rohrschneider, Klaus
Escher, Johanna
Ganesh, Anuradha
Zuhaibi, Sana Al
Murshedi, Fathiya Al
AlSaleem, Badr
Alfadhel, Majid
Sinani, Siham Al
Alkuraya, Fowzan S.
Huber, Lukas A.
Müller, Thomas
Heidelberger, Ruth
Janz, Roger
- Beteiligte Personen und Organisationen
-
SpringerLink (Online service)
- DOI
-
10.1007/s00439-021-02284-1
- URN
-
urn:nbn:de:101:1-2021101601381318248035
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
15.08.2025, 07:30 MESZ
Datenpartner
Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Janecke, Andreas
- Liu, Xiaoqin
- Adam, Rüdiger
- Punuru, Sumanth
- Viestenz, Arne
- Strauß, Valeria
- Laass, Martin
- Sanchez, Elizabeth
- Adachi, Roberto
- Schatz, Martha P.
- Saboo, Ujwala S.
- Mittal, Naveen
- Rohrschneider, Klaus
- Escher, Johanna
- Ganesh, Anuradha
- Zuhaibi, Sana Al
- Murshedi, Fathiya Al
- AlSaleem, Badr
- Alfadhel, Majid
- Sinani, Siham Al
- Alkuraya, Fowzan S.
- Huber, Lukas A.
- Müller, Thomas
- Heidelberger, Ruth
- Janz, Roger
- SpringerLink (Online service)
Ähnliche Objekte (12)
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment
Systemic inflammation induced by lipopolysaccharide aggravates inherited retinal dystrophy
Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy
Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy
Retinal sensitivity and fundus autofluorescence in adult-onset foveomacular vitelliform dystrophy
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment
Genetics, clinical characteristics, and natural history of PDE6B-associated retinal dystrophy
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment
Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series
Aflibercept-driven normalization of retinal microvascular architecture and rescue of dopaminergic amacrine cells in a murine ischemic retinal dystrophy model
The temporal progression of retinal degeneration and early-stage idebenone treatment in the Pde6brd1/rd1 mouse model of retinal dystrophy
Retinal pharmacotherapeutics
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment
Systemic inflammation induced by lipopolysaccharide aggravates inherited retinal dystrophy
Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy
Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy
Retinal sensitivity and fundus autofluorescence in adult-onset foveomacular vitelliform dystrophy
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment
Genetics, clinical characteristics, and natural history of PDE6B-associated retinal dystrophy
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment
Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series
Aflibercept-driven normalization of retinal microvascular architecture and rescue of dopaminergic amacrine cells in a murine ischemic retinal dystrophy model
The temporal progression of retinal degeneration and early-stage idebenone treatment in the Pde6brd1/rd1 mouse model of retinal dystrophy
Retinal pharmacotherapeutics
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment
Systemic inflammation induced by lipopolysaccharide aggravates inherited retinal dystrophy
Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy
Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy
Retinal sensitivity and fundus autofluorescence in adult-onset foveomacular vitelliform dystrophy
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment
Genetics, clinical characteristics, and natural history of PDE6B-associated retinal dystrophy
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment
Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series
Aflibercept-driven normalization of retinal microvascular architecture and rescue of dopaminergic amacrine cells in a murine ischemic retinal dystrophy model
The temporal progression of retinal degeneration and early-stage idebenone treatment in the Pde6brd1/rd1 mouse model of retinal dystrophy