The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort (Q89690339)

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7 April 2020

title

The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort (English)

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7 April 2020

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1

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7 April 2020

Emmanuelle Souzeau

3

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7 April 2020

Jamie E Craig

20

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7 April 2020

Ayub Qassim

8

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Sandra E Staffieri

Sandra E Staffieri

4

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Richard A D Mills

Richard A Mills

16

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Kathryn P. Burdon

Kathryn P Burdon

19

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Daniel G. MacArthur

Daniel G MacArthur

17

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author name string

Mona S Awadalla

2

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7 April 2020

Lisa S Kearns

5

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7 April 2020

Kate Laurie

6

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7 April 2020

Abraham Kuot

7

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7 April 2020

Thomas L Edwards

9

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7 April 2020

Michael A Coote

10

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7 April 2020

Erica Mancel

11

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7 April 2020

Mark J Walland

12

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7 April 2020

Joanne Dondey

13

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7 April 2020

Anna Galanopoulous

14

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7 April 2020

Robert J Casson

15

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7 April 2020

Jonathan B Ruddle

18

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7 April 2020

publication date

12 February 2020

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7 April 2020

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Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein

7 April 2020

cites work

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12 December 2020

Posterior microphthalmos versus nanophthalmos

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12 December 2020

Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease

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12 December 2020

Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice

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12 December 2020

Posterior microphthalmos as a genetically heterogeneous condition that can be allelic to nanophthalmos.

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12 December 2020

Mutations in a novel serine protease PRSS56 in families with nanophthalmos.

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12 December 2020

Biometric and molecular characterization of clinically diagnosed posterior microphthalmos

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12 December 2020

Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene

1 reference

12 December 2020

The small eye phenotype in the EPIC-Norfolk eye study: prevalence and visual impairment in microphthalmos and nanophthalmos

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12 December 2020

Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12.

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12 December 2020

Causes of vision loss worldwide, 1990-2010: a systematic analysis

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12 December 2020

Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos.

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12 December 2020

Genetic Investigation of 93 Families with Microphthalmia or Posterior Microphthalmos.

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12 December 2020

Müller glia-derived PRSS56 is required to sustain ocular axial growth and prevent refractive error.

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12 December 2020

Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

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12 December 2020

Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma

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12 December 2020

Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.

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12 December 2020

Detection of Clinically Relevant Genetic Variants in Chinese Patients With Nanophthalmos by Trio-Based Whole-Genome Sequencing Study

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12 December 2020

Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF

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12 December 2020