Retinal dystrophy as part of TTC21B-associated ciliopathy (Unknown)
- New search for: Ben-Yosef, Tamar
- New search for: Asia Batsir, Nurit
- New search for: Ali Nasser, Tahleel
- New search for: Ehrenberg, Miriam
- New search for: Ben-Yosef, Tamar
- New search for: Asia Batsir, Nurit
- New search for: Ali Nasser, Tahleel
- New search for: Ehrenberg, Miriam
In:
Ophthalmic Genetics
;
42
, 3
;
329-333
;
2021
- Article (Journal) / Electronic Resource
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Title:Retinal dystrophy as part of TTC21B-associated ciliopathy
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Contributors:Ben-Yosef, Tamar ( author ) / Asia Batsir, Nurit ( author ) / Ali Nasser, Tahleel ( author ) / Ehrenberg, Miriam ( author )
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Published in:Ophthalmic Genetics ; 42, 3 ; 329-333
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Publisher:
- New search for: Taylor & Francis
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Publication date:2021-05-04
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Size:5 pages
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ISSN:
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DOI:
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Type of media:Article (Journal)
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Type of material:Electronic Resource
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Language:Unknown
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Keywords:
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Source:
Table of contents – Volume 42, Issue 3
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 223
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The presence and progression of choroidal neurofibromas in a predominantly pediatric population with neurofibromatosis type-1Chilibeck, Corina M. / Shah, Shaheen / Russell, Heather C. / Vincent, Andrea L. et al. | 2021
- 230
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Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinismKessel, Line / Kjer, Birgit / Lei, Ulrikke / Duno, Morten / Grønskov, Karen et al. | 2021
- 239
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Association study of fibroblast growth factor 10 (FGF10) rs399501 polymorphism with susceptibility to high myopia in a Chinese populationJiang, Xiu / Tong, Tian / Xia, Ning / Wu, Ling / Zhang, Cong / Zhang, Yue / Li, Ruo-Xi et al. | 2021
- 243
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Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinismEhrenberg, Miriam / Bagdonite-Bejarano, Laura / Fulton, Anne B. / Orenstein, Naama / Yahalom, Claudia et al. | 2021
- 252
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Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate modelAleman, Tomas S. / O’Neil, Erin C. / O’Connor, Keli / Jiang, Yu You / Aleman, Isabella A. / Bennett, Jean / Morgan, Jessica I. W. / Toussaint, Brian W. et al. | 2021
- 266
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Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathyHuang, Zhiqin / Zhang, Dan / Thompson, Jennifer A. / Jamuar, Saumya S. / Roshandel, Danial / Jennings, Luke / Mellough, Carla / Charng, Jason / Chen, Shang-Chih / McLaren, Terri L. et al. | 2021
- 276
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Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 geneDoğan, Mustafa / Eröz, Recep / Öztürk, Emrah et al. | 2021
- 283
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Calculation of test-retest variability in phase I/IIa clinical trials for Inherited Retinal DegenerationsAbou-Hanna, Jacob Jeries / Andrews, Chris A. / Khan, Naheed W. / Musch, David C. / Jayasundera, K. Thiran et al. | 2021
- 291
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Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome SequencingMendez, Rodrigo / Iqbal, Sumaiya / Vishnopolska, Sebastián / Martinez, Cinthia / Dibner, Glenda / Aliano, Rocio / Zaiat, Jonathan / Biagioli, Germán / Fernandez, Cecilia / Turjanski, Adrian et al. | 2021
- 296
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Congenital stationary night blindness in a patient with mild learning disability due to a compound heterozygous microdeletion of 15q13 and a missense mutation in TRPM1Delle Fave, M. / Cordonnier, M. / Vallee, l. / Condroyer, C. / Zeitz, C. / Balikova, I. et al. | 2021
- 300
-
Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT geneSen, Sagnik / Kannan, Saraswathi Karuvel / Shanmugam, Ulaganathan / Rajan, Renu / Babu, Naresh / Vanniarajan, Ayyasamy et al. | 2021
- 304
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Multimodal imaging analysis of macular dystrophy in patient with maternally inherited diabetes and deafness (MIDD) with m.3243A>G mutationOishi, Noriko / Kubota, Daiki / Nakamoto, Kenji / Takeda, Yukito / Hayashi, Mika / Gocho, Kiyoko / Yamaki, Kunihiko / Igarashi, Tsutomu / Takahashi, Hiroshi / Kameya, Shuhei et al. | 2021
- 312
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Multimodal imaging of an RPGR carrier femaleKilgore, David A. / Kilgore, Tyler A. / Sukpraprut-Braaten, Suporn / Schaefer, Gerald B. / Uwaydat, Sami H. et al. | 2021
- 317
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Development of neovascular glaucoma after intraocular surgery in Pierson syndromeMagliyah, Moustafa S. / Alsulaiman, Sulaiman M. et al. | 2021
- 320
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Clinical diagnosis of presumed SOX2 gonadosomatic mosaicismDaich Varela, Malena / Hufnagel, Robert B. / Guan, Bin / Blain, Delphine / Sapp, Julie C. / Gropman, Andrea L. / Alur, Ramakrishna / Johnston, Jennifer J. / Biesecker, Leslie G. / Brooks, Brian P. et al. | 2021
- 326
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An unusual ophthalmic presentation of Wolf-Hirschhorn syndromeÇelik, Gökhan / Batu Oto, Bilge / Kızılay, Osman / Kılıçarslan, Oğuzhan / Toptan, Handan Hakyemez et al. | 2021
- 329
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Retinal dystrophy as part of TTC21B-associated ciliopathyBen-Yosef, Tamar / Asia Batsir, Nurit / Ali Nasser, Tahleel / Ehrenberg, Miriam et al. | 2021
- 334
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Bilateral anterior segment dysgenesis and peripheral avascular retina with tractional retinal detachment in an infant with multiple congenital anomalies-hypotony-seizures syndrome 3Wu, Frances / Goldenberg, Paula C. / Mukai, Shizuo et al. | 2021
- 338
-
Multimodal imaging and genetic findings in a case of ARSG-related atypical Usher syndromeFowler, Nicholas H. / El-Rashedy, May I. / Chishti, Emad A. / Vander Kooi, Craig W. / Maldonado, Ramiro S. et al. | 2021
- 344
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Norrie disease with a spontaneously shrinking choroid plexus abnormality: a case reportYounes, Subhi Talal / Shiflett, James Mason / Weaver, Kristin / Smith, Andrew / Herrington, Betty / Taylor, Charlotte / Reddy, Kartik et al. | 2021
- 349
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A homozygous POC1B variant causes recessive cone-rod dystrophyPeturson, Ann-Marie C. / Noel, Nicole C. L. / MacDonald, Ian M. et al. | 2021
- 354
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Secondary enucleated retinoblastoma with MYCN amplificationMoulin, Alexandre P. / Stathopoulos, Christina / Marcelli, Fabienne / Schoumans Pouw, Jacqueline / Beck-Popovic, Maja / Munier, Francis L. et al. | 2021
- 360
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Keratoconus in a child with partial trisomy 13Ernst, Julia / Eldib, Amgad / Scanga, Hannah L. / Nischal, Ken K. et al. | 2021