4 research outputs found
Genotypic and phenotypic factors influencing the rate of progression in ABCA-4-related Stargardt disease
- Author
- Publication venue
- 'Informa UK Limited'
- Publication date
- Field of study
The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate
- Author
- A Martinez-Mir
- A Maugeri
- AT Duggan
- D Dalkara
- EH Runhart
- EH Souied
- F Quazi
- FO Desmet
- FP Cremers
- G Yeo
- G Zhai
- H Milting
- I Aukrust
- J Smith
- J Zernant
- J Zernant
- JC Bear
- JJ Manion
- JJ Mannion
- JS Green
- JS Green
- JX Chong
- K Fujinami
- K Fujinami
- KJ Carss
- KM Boycott
- M Michaelides
- M Papaioannou
- MG Reese
- ND Merner
- NF Shroyer
- NF Shroyer
- NJ Timpson
- P Tanna
- R Allikmets
- R Allikmets
- R Allikmets
- R Riveiro-Alvarez
- R Sangermano
- R Sangermano
- RJ Dawson
- RM Huckfeldt
- S Lambertus
- S Rozen
- S Yzer
- SA Miller
- SM Azarian
- SP Strom
- TR Burke
- TR Burke
- VB Kitiratschky
- W Lee
- W Xin
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Stargardt disease: Multimodal imaging—A review
- Author
- Abalem MF
- Alabduljalil T
- Allikmets R
- Al‐Ani HH
- Arrigo A
- Audo I
- Battaglia Parodi M
- Battaglia Parodi M
- Battaglia Parodi M
- Bax NM
- Burke TR
- Burke TR
- Cella W
- Chandrasekera E
- Charng J
- Chen B
- Chen FK
- Chen L
- Chen Y
- Cicinelli MV
- Cideciyan AV
- Cideciyan AV
- Collison FT
- Cremers FPM
- De Laey JJ
- De Roach JN
- Del Pozo‐Valero M
- Delori F
- Delori FC
- Dhooge PPA
- Di Iorio V
- Duncker T
- Duncker T
- Duncker T
- Dysli C
- Ervin AM
- Feuer WJ
- Fingler J
- Fishman GA
- Fujinami K
- Fujinami K
- Fung AT
- Genead MA
- Georgiou M
- Giani A
- Gliem M
- Greenberg JP
- Greenstein VC
- Guduru A
- Han IC
- Heath Jeffery RC
- Heath Jeffery RC
- Heath Jeffery RC
- Holtan JP
- Huang D
- Huckfeldt RM
- Huet RA
- Huynh E
- Hwang JC
- Jauregui R
- Jia Y
- Keilhauer CN
- Kellner S
- Khan KN
- Kim DY
- Klufas MA
- Kong X
- Kong X
- Kuehlewein L
- Kugelman J
- Kurz‐Levin MM
- Lambertus S
- Lambertus S
- Lee W
- Lee W
- Leng T
- Lindner M
- Lois N
- Lorenz B
- Margolis R
- Mariampillai A
- Mastropasqua R
- Maugeri A
- McBain VA
- Melillo P
- Mena MD
- Michaelides M
- Mishra Z
- Müller PL
- Müller PL
- Müller PL
- Müller PL
- Müller PL
- Nassisi M
- Normando EM
- Patel M
- Pellegrini M
- Piri N
- Querques G
- Querques G
- Ratra D
- Reich M
- Runhart EH
- Runhart EH
- Rückmann A
- Schwoerer J
- Sears AE
- Shen LL
- Shen LL
- Sisk RA
- Song H
- Song H
- Souied EH
- Spaide RF
- Spaide RF
- Sparrow JR
- Sparrow JR
- Stargardt K
- Strauss RW
- Strauss RW
- Strauss RW
- Strauss RW
- Strauss RW
- Sung YC
- Tanaka K
- Velaga SB
- Verdina T
- Voigt M
- Westeneng‐van Haaften SC
- Whitmore SS
- Witmer MT
- Yang E
- Yatsenko AN
- Yeoh J
- Zernant J
- Zhao PY
- Publication venue
- 'Wiley'
- Publication date
- Field of study
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy
- Author
- A Avila-Fernandez
- A Lindstrand
- A McKenna
- AF Goldberg
- AI den Hollander
- AI den Hollander
- C Rivolta
- C Ziviello
- CC Leitch
- CM Louie
- E Marouli
- EA Pierce
- EH Runhart
- F Hildebrandt
- G Alfano
- GP Sykiotis
- H Yoshimura
- HA Stessman
- I Ebermann
- J Chang
- J Zernant
- JL Badano
- JL Badano
- JR Priest
- K Kajiwara
- K Suto
- K Tory
- K Wang
- KM Nishiguchi
- KM Nishiguchi
- L Baum
- LS Sullivan
- M Iwanami
- M Lek
- M Messchaert
- M Nagasaki
- MI Khan
- N Katsanis
- N Katsanis
- N Katsanis
- NA Zaghloul
- PJ Freeman
- PL Beales
- Q Liu
- Q Liu
- Q Liu
- R Do
- R Drmanac
- S El Shamieh
- S Khaliq
- S Purcell
- T Klassen
- W Berger
- W Ji
- X Guillonneau
- Y Arai
- Y Momozawa
- Y Yamaguchi-Kabata
- Z Lu
- ZB Jin
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study