Ocular coloboma: a reassessment in the age of molecular neuroscience (Q35444452)

8 August 2017

1 reference

title

Ocular coloboma: a reassessment in the age of molecular neuroscience (English)

1 reference

8 August 2017

1 reference

C Y Gregory-Evans

1

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8 August 2017

M J Williams

series ordinal

2

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8 August 2017

S Halford

series ordinal

3

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8 August 2017

K Gregory-Evans

series ordinal

4

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8 August 2017

language of work or name

English

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publication date

1 December 2004

1 reference

Journal of Medical Genetics

8 August 2017

published in

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8 August 2017

volume

41

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8 August 2017

issue

12

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8 August 2017

page(s)

881-891

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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

8 August 2017

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Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea

12 July 2018

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The genetic and molecular basis of congenital eye defects

12 July 2018

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PAX6 and congenital eye malformations.

12 July 2018

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The hedgehog signaling network

12 July 2018

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Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance?

12 July 2018

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CAUSES OF BLINDNESS IN CANADA: AN ANALYSIS OF 24,605 CASES REGISTERED WITH THE CANADIAN NATIONAL INSTITUTE FOR THE BLIND

12 July 2018

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Infantile choroidal neovascularization associated with choroidal coloboma

12 July 2018

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Clinical manifestations of ocular toxoplasmosis in Yogyakarta, Indonesia: a clinical review of 173 cases.

12 July 2018

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Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.

12 July 2018

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Noggin overexpression inhibits eyelid opening by altering epidermal apoptosis and differentiation

12 July 2018

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Choroidal neovascular membrane associated with optic nerve coloboma in a patient with CHARGE association

12 July 2018

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JNK initiates a cytokine cascade that causes Pax2 expression and closure of the optic fissure

12 July 2018

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12 July 2018

Mowat-Wilson syndrome

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Mutations of the PAX6 Gene Detected in Patients with a Variety of Optic-Nerve Malformations

12 July 2018

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Mutations in SOX2 cause anophthalmia

12 July 2018

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Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

12 July 2018

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Six3 repression of Wnt signaling in the anterior neuroectoderm is essential for vertebrate forebrain development

12 July 2018

1 reference

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Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.

12 July 2018

1 reference

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Mice lacking ZFHX1B, the gene that codes for Smad-interacting protein-1, reveal a role for multiple neural crest cell defects in the etiology of Hirschsprung disease-mental retardation syndrome

12 July 2018

1 reference

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Structural basis of BMP signalling inhibition by the cystine knot protein Noggin

12 July 2018

1 reference

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Iris coloboma and a microdeletion of chromosome 22: del(22)(q11.22).

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

12 July 2018

1 reference

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The p53 network in lung carcinogenesis.

12 July 2018

1 reference

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Multiple ocular colobomas in the snow leopard (Uncia uncia).

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Is there an association between maternal carbamazepine use during pregnancy and eye malformations in the child?

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Expression of the SMADIP1 gene during early human development

12 July 2018

1 reference

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First genomic localization of oculo-oto-dental syndrome with linkage to chromosome 20q13.1.

12 July 2018

1 reference

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Expression of bone morphogenetic proteins (BMP), BMP receptors, and BMP associated proteins in human trabecular meshwork and optic nerve head cells and tissues

12 July 2018

1 reference

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Iris hypoplasia in mice that lack the alternatively spliced Pax6(5a) isoform

12 July 2018

1 reference

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Environmental risk factors in congenital malformations of the eye.

12 July 2018

1 reference

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Liver-enriched transcription factors in liver function and development. Part I: the hepatocyte nuclear factor network and liver-specific gene expression

12 July 2018

1 reference

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Vax2 inactivation in mouse determines alteration of the eye dorsal-ventral axis, misrouting of the optic fibres and eye coloboma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

OPHTHALMIC INVOLVEMENT IN THE FETAL ALCOHOL SYNDROME: CLINICAL AND ANIMAL MODEL STUDIES

12 July 2018

1 reference

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Differential effect of activin A and BMP-7 on myofibroblast differentiation and the role of the Smad signaling pathway

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Regulation of c-maf gene expression by Pax6 in cultured cells

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Function of Rx, but not Pax6, is essential for the formation of retinal progenitor cells in mice

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Human microphthalmia associated with mutations in the retinal homeobox gene CHX10

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

High myopia, hypertelorism, iris coloboma, exomphalos, absent corpus callosum, and sensorineural deafness: report of a case and further evidence for autosomal recessive inheritance.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

XSIP1, a member of two-handed zinc finger proteins, induced anterior neural markers in Xenopus laevis animal cap.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Visual acuity in children with coloboma: clinical features and a new phenotypic classification system

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

The organizer factors Chordin and Noggin are required for mouse forebrain development

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Coloboma mouse mutant as an animal model of hyperkinesis and attention deficit hyperactivity disorder

12 July 2018

1 reference

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Vax1, a novel homeobox-containing gene, directs development of the basal forebrain and visual system

12 July 2018

1 reference

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Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase

12 July 2018

1 reference

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Teratogen update: thalidomide: a review, with a focus on ocular findings and new potential uses

12 July 2018

1 reference

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Dosage requirement of Pitx2 for development of multiple organs

12 July 2018

1 reference

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Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations

12 July 2018

1 reference

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A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies

12 July 2018

1 reference

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SIP1, a novel zinc finger/homeodomain repressor, interacts with Smad proteins and binds to 5'-CACCT sequences in candidate target genes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Dorsal-ventral patterning defects in the eye of BF-1-deficient mice associated with a restricted loss of shh expression

12 July 2018

1 reference

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Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

12 July 2018

1 reference

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Embryonic lethality and vascular defects in mice lacking the Notch ligand Jagged1

12 July 2018

1 reference

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BMP7 acts in murine lens placode development

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

AP-2alpha transcription factor is required for early morphogenesis of the lens vesicle

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Chorioretinal colobomas in a pediatric population

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Surgical management of retinal detachments related to coloboma of the choroid

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Haploinsufficient phenotypes in Bmp4 heterozygous null mice and modification by mutations in Gli3 and Alx4

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Congenital eye malformations in 212,479 consecutive births.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Sonic hedgehog participates in craniofacial morphogenesis and is down-regulated by teratogenic doses of retinoic acid

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

A small deletion of 16q23.1-->16q24.2 [del(16)(q23.1q24.2).ish del(16)(q23.1q24.2)(D16S395+, D16S348-, P5432+)] in a boy with iris coloboma and minor anomalies.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Overlapping expression domains of bone morphogenetic protein family members potentially account for limited tissue defects in BMP7 deficient embryos

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

BMP7 null mutation in mice: developmental defects in skeleton, kidney, and eye.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Pax2 contributes to inner ear patterning and optic nerve trajectory

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

New autosomal recessive multiple congenital abnormalities/mental retardation syndrome with craniofacial dysmorphism absent corpus callosum, iris colobomas and connective tissue dysplasia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Dubowitz syndrome: review of 141 cases including 36 previously unreported patients

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Steinfeld syndrome: report of a second family and further delineation of a rare autosomal dominant disorder.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Macrosomia, obesity, macrocephaly and ocular abnormalities (MOMO syndrome) in two unrelated patients: delineation of a newly recognized overgrowth syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Ocular malformations of Xenopus laevis exposed to nickel during embryogenesis.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Childhood blindness due to vitamin A deficiency in India: regional variations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

A requirement for bone morphogenetic protein-7 during development of the mammalian kidney and eye

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Ocular colobomas in domestic cats

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Sex-Linked Coloboma in the Chicken

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Ocular Manifestations of the Meckel Syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Multiple systemic and ocular malformations associated with maternal LSD usage

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Neurologic complications of the epidermal nevus syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Deletion of a single chromosome band 4q26 in a malformed girl: exclusion of Rieger syndrome associated gene(s) from the 4q26 segment

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Hyperthermia as a teratogen: a review of experimental studies and their clinical significance

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

The eye in the CHARGE association

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Father-to-daughter transmission of focal dermal hypoplasia associated with nonrandom X-inactivation: support for X-linked inheritance and paternal X chromosome mosaicism

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Oto-palatal-digital syndrome type II with X-linked cerebellar hypoplasia/hydrocephalus

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Hallermann-Streiff syndrome: A review

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Apparently new MCA/MR syndrome in sibs with cleft lip and palate and other facial, eye, heart, and intestinal anomalies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Possible new type of oral-facial-digital syndrome with retinal abnormalities: OFDS type (VIII)

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Upper limb defect associated with developmental delay, unilateral poorly developed antihelix, hearing deficit, and bilateral choroid coloboma: a new syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein-Taybi syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Complicated colobomatous microphthalmos in the BW rat: a new form of inherited retinal degeneration.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

12 July 2018

Collie eye anomaly (CEA)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Optic Nerve Manifestations of Human Congenital Cytomegalovirus Infection

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Possible autosomal-recessive ocular coloboma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Retinal expression of zebrafish six3.1 and its regulation by Pax6.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Specification of the vertebrate eye by a network of eye field transcription factors.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Noonan syndrome associated with unilateral iris coloboma and congenital chylothorax in an infant.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Cerebral manifestations, hemihypertrophy and lymphoedema of one leg in a child with epidermal nevus syndrome (Schimmelpenning-Feuerstein-Mims).

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Cooperative action between L-Maf and Sox2 on delta-crystallin gene expression during chick lens development.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Genetic rescue of cell number in a mouse model of microphthalmia: interactions between Chx10 and G1-phase cell cycle regulators

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Surgical management of retinal detachment with choroidal coloboma.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Axes establishment during eye morphogenesis in Xenopus by coordinate and antagonistic actions of BMP4, Shh, and RA.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

The role of bone morphogenetic proteins in the differentiation of the ventral optic cup.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Prosthetic iris implantation for congenital, traumatic, or functional iris deficiencies

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Double-stranded RNA injection produces null phenotypes in zebrafish.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Defective neural tube morphogenesis and altered apoptosis in the absence of both JNK1 and JNK2.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Anomalies associated with Axenfeld-Rieger syndrome.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Molecular regulators involved in vertebrate eye development.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Interstitial deletion of 2q associated with craniosynostosis, ocular coloboma, and limb abnormalities: cytogenetic and molecular investigation

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Colobomatous microphthalmia with midfacial clefting: part of the spectrum of branchio-oculo-facial syndrome?

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Osteogenic protein-1 is required for mammalian eye development.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Index finger hyperphalangy and multiple anomalies: Catel-Manzke syndrome?

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

A further patient with Pai syndrome with autosomal dominant inheritance?

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Confirmation of a new MR/male pseudohermaphroditism syndrome, Verloes type.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Craniofacial abnormalities, agenesis of the corpus callosum, polysyndactyly and abnormal skin and gut development--the Curry Jones syndrome

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Midline signalling is required for Pax gene regulation and patterning of the eyes.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Midline facial defects with ocular colobomata

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Morning Glory Syndrome: Unusual Congenital Optic Disk Anomaly

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735648

Colobomatous microphthalmos in a New Zealand white rabbit, arising from a colony with suspected vitamin E deficiency

26 September 2018

1 reference

12 December 2020

Retinochoroidal coloboma associated with subretinal neovascularization

1 reference

12 December 2020

Further delineation of the acro-renal-ocular syndrome

1 reference

12 December 2020

Unexpected familial recurrence of iris coloboma. A delayed mutation mechanism?

1 reference

12 December 2020

Hereditary microphthalmia with colobomatous cyst

1 reference

12 December 2020

Single maxillary central incisor and coloboma in hypomelanosis of Ko

1 reference

12 December 2020

Retinal detachment associated with coloboma of the choroid

1 reference

12 December 2020

Inferior congenital iris coloboma and IOL implantation

1 reference

12 December 2020

Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints

1 reference

12 December 2020

Clinical and biochemical findings in six patients with pyrimidine degradation defects

1 reference

12 December 2020

Congenital contractural arachnodactyly and intraocular colobomas

1 reference

12 December 2020

Terminal long arm deletion of chromosome 7 and retino-choroidal coloboma

1 reference

12 December 2020

Optic disc in fundus coloboma

1 reference

12 December 2020

Iris coloboma with iris heterochromia: a common association

1 reference

12 December 2020

Concordant aortic arch anomalies in monozygotic twins

1 reference

12 December 2020

An analysis of the syndrome of malformations induced by maternal vitamin A deficiency. Effects of restoration of vitamin A at various times during gestation

1 reference

12 December 2020

Kidney and retinal defects (Krd), a transgene-induced mutation with a deletion of mouse chromosome 19 that includes the Pax2 locus

1 reference

12 December 2020

Mouse fundus photography and angiography: a catalogue of normal and mutant phenotypes

1 reference

12 December 2020

[Ocular lesions induced by saccharin and its pollutants in the rat fetus]

1 reference

12 December 2020

Eye malformations in chick embryos exposed to elevated incubation temperatures

1 reference

12 December 2020

The inheritance of ocular colobomata in Charolais cattle

1 reference

12 December 2020

Pax6 heterozygous eyes show defects in chamber angle differentiation that are associated with a wide spectrum of other anterior eye segment abnormalities

1 reference

12 December 2020

Teratogenic effect of 2'-thiourea in the rat

1 reference

12 December 2020

Prevalence of retinal detachments in children with chorioretinal colobomas

1 reference

12 December 2020

Eye malformations associated with treatment with carbamazepine during pregnancy

1 reference

12 December 2020

The effects of 1-β-d-arabinofuranosylcyto-sine on the developing chick embyro

1 reference

12 December 2020

Peripapillary choroidal neovascular membrane associated with an optic nerve coloboma

1 reference

12 December 2020

Provisionally unique autosomal recessive chondrodysplasia punctata syndrome

1 reference

12 December 2020

Frontofacionasal dysplasia: evidence for autosomal recessive inheritance

1 reference

12 December 2020

Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation

1 reference

12 December 2020

Critical period for induction of ocular anomalies produced by soft x-ray irradiation (4.6 Gy) in the rat F1 offspring

1 reference

12 December 2020

Effects of dietary supplementation with selenomethionine on the teratogenic effect of ionizing radiation in mice

1 reference

12 December 2020

Congenital iris coloboma repair using a modified McCannel suture technique

1 reference

12 December 2020

Ocular manifestations of the fetal hydantoin syndrome

1 reference

12 December 2020

Colobomatous macrophthalmia with microcornea syndrome: report of a new pedigree

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2004.025494

1 reference

8 August 2017

1 reference

8 August 2017

1 reference