| 1 |
Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation.
61
54
|
Liu JY...Wang QK
|
17516023 |
2007 |
| 2 |
Deletion in the OA1 gene in a family with congenital X linked nystagmus.
54
61
|
Preising M...Lorenz B
|
11520764 |
2001 |
| 3 |
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.
61
54
|
Bassi MT...Schiaffino MV
|
11214907 |
2001 |
| 4 |
Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.
61
54
|
Hanson I...van Heyningen V
|
9931324 |
1999 |
| 5 |
Congenital stationary night blindness in a patient with mild learning disability due to a compound heterozygous microdeletion of 15q13 and a missense mutation in TRPM1.
61
|
Delle Fave M...Balikova I
|
33691579 |
2021 |
| 6 |
Clinical and Genetic Analysis of 63 Families Demonstrating Early and Advanced Characteristic Fundus as the Signature of CRB1 Mutations.
61
|
Wang Y...Zhang Q
|
33342761 |
2021 |
| 7 |
Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism.
61
|
Ehrenberg M...Yahalom C
|
33594928 |
2021 |
| 8 |
Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus.
61
|
Wang XF...Yu HY
|
33732697 |
2021 |
| 9 |
Novel Mutations in NPC1 are Associated with Pelizaeus-Merzbacher-Like Disease: A Case Report.
61
|
Fu H...Liu H
|
33727856 |
2021 |
| 10 |
Bilateral Macular Myelinated Retinal Nerve Fibers and Congenital Nystagmus.
61
|
Kourti P...Yeo DCM
|
33097110 |
2020 |
| 11 |
50 Years Ago in The Journal of Pediatrics: The Cause of Spasmus Nutans and Congenital Nystagmus: Frozen in Time.
61
|
Beres S
|
32711744 |
2020 |
| 12 |
Re: The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus.
61
|
Rufai SR
|
32522480 |
2020 |
| 13 |
Congenital third cranial nerve palsy with prenuclear dysinnervation involving otolithic pathways: Underpinnings of a novel congenital cranial dysinnervation disorder.
61
|
Pandey PK...Saraf P
|
32587205 |
2020 |
| 14 |
Vertical Optokinetic Stimulation Induces Diagonal Eye Movements in Patients with Idiopathic Infantile Nystagmus.
61
|
Economides JR...Horton JC
|
32503054 |
2020 |
| 15 |
Foveation dynamics in congenital nystagmus IV: vergence.
61
|
Dell'Osso LF...Collewijn H
|
31776760 |
2020 |
| 16 |
Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority.
61
|
Mayer AK...Wissinger B
|
31896775 |
2020 |
| 17 |
Congenital Nystagmus and Its Congeners.
61
|
Brodsky MC
|
32397854 |
2020 |
| 18 |
The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus.
61
|
Weiner C...Pras E
|
32032626 |
2020 |
| 19 |
Stroke-like episodes in OPA1 carriers require comprehensive work-up and therapeutic considerations.
61
|
Finsterer J
|
31782039 |
2020 |
| 20 |
Impaired DNA-binding affinity of novel PAX6 mutations.
61
|
Lee S...Choi JH
|
32080308 |
2020 |
| 21 |
p.His16Arg of STXBP1 (MUNC18-1) Associated With Syntaxin 3B Causes Autosomal Dominant Congenital Nystagmus.
61
|
Li Y...Liu JY
|
33251218 |
2020 |
| 22 |
Nystagmus-related FRMD7 gene influences the maturation and complexities of neuronal processes in human neurons.
61
|
Pu J...Zhang B
|
31743612 |
2019 |
| 23 |
Reply to: Congenital nystagmus, disability, visual impairment, and noncompaction suggest hereditary disease.
61
|
Maia EC...Oliveira Filho JA
|
31800743 |
2019 |
| 24 |
Congenital nystagmus, disability, visual impairment, and noncompaction suggest hereditary disease.
61
|
Finsterer J
|
31800741 |
2019 |
| 25 |
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.
61
|
Yan H...Wolf NI
|
31587869 |
2019 |
| 26 |
Cerebral visual impairment is a major cause of profound visual impairment in children aged less than 3 years: A study from tertiary eye care center in South India.
61
|
Pehere NK...Dutton GN
|
31546477 |
2019 |
| 27 |
Nystagmus in patients with congenital stationary night blindness (CSNB) originates from synchronously firing retinal ganglion cells.
61
|
Winkelman BHJ...Kamermans M
|
31513577 |
2019 |
| 28 |
A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping.
61
|
O'Gorman L...Self JE
|
31519934 |
2019 |
| 29 |
A family with a mild form of congenital nystagmus and optic disc coloboma caused by a novel PAX6 mutation.
61
|
Lee B...Park JS
|
30986449 |
2019 |
| 30 |
[Ophthalmological evaluation in children referred to a low-vision rehabilitation project of a social assistance agency].
61
|
Barria Von-B F...Marin D M
|
31344189 |
2019 |
| 31 |
Left ventricular noncompaction in a Para athlete.
61
|
Maia EC...Oliveira Filho JA
|
31090793 |
2019 |
| 32 |
Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism.
61
|
Michaud V...Arveiler B
|
30942644 |
2019 |
| 33 |
X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review.
61
|
Yan N...Ma K
|
30890130 |
2019 |
| 34 |
Identification and functional characterization of a novel missense mutation in FRMD7 responsible for idiopathic congenital nystagmus.
61
|
Wang Z...Lu B
|
30576400 |
2019 |
| 35 |
Case of congenital nystagmus.
61
|
Nichols D
|
30242942 |
2019 |
| 36 |
Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case.
61
|
Kousal B...Liskova P
|
31638560 |
2019 |
| 37 |
Identification of a novel GPR143 mutation in X-linked ocular albinism with marked intrafamilial phenotypic variability.
61
|
Jung JH...Choi JH
|
30555098 |
2018 |
| 38 |
Whole-Brain Functional Ultrasound Imaging Reveals Brain Modules for Visuomotor Integration.
61
|
Mace E...Roska B
|
30521779 |
2018 |
| 39 |
Identification of a novel idiopathic congenital nystagmus‑causing missense mutation, p.G296C, in the FRMD7 gene.
61
|
Xiu Y...Zhu Y
|
30015830 |
2018 |
| 40 |
Impact on GABA systems in monogenetic developmental CNS disorders: Clues to symptomatic treatment.
61
|
Benke D...Mohler H
|
28764992 |
2018 |
| 41 |
Comorbid inner ear disorders in 50 patients with congenital nystagmus.
61
|
Huang YC...Young YH
|
29718589 |
2018 |
| 42 |
Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy.
61
|
Souzeau E...Craig JE
|
30090012 |
2018 |
| 43 |
Medical and legal point of view for low-vision patients.
61
|
Bogdanici CM...Diaconu CM
|
29796434 |
2018 |
| 44 |
The prevalence of vision impairment and refractive error in 3654 first year students at Tianjin Medical University.
61
|
Shi XY...Li XR
|
30364305 |
2018 |
| 45 |
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.
61
|
Simons C...Wolf NI
|
29186371 |
2017 |
| 46 |
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS.
61
|
Tracewska-Siemiatkowska A...Tranebjarg L
|
29232904 |
2017 |
| 47 |
Topical brinzolamide in congenital nystagmus: A retrospective study.
61
|
Nieves-Moreno M...Gomez-de-Liano R
|
28734565 |
2017 |
| 48 |
[Clinical manifestation and gene analyses of 15 patients with intellectual disability or developmental delay complicated with congenital nystagmus].
61
|
Gao ZJ...Chen XL
|
29141312 |
2017 |
| 49 |
Stable cell lines of human SH-SY5Y uniformly expressing wild-type or mutant-type FERM domain containing 7 gene.
61
|
Pu J...Zhang B
|
28962155 |
2017 |
| 50 |
AhR-deficiency as a cause of demyelinating disease and inflammation.
61
|
Juricek L...Coumoul X
|
28851966 |
2017 |
