List of works - Christina Gerth-kahlert

A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma

scientific article published on 24 January 2016

Alternating IV nerve palsy and ptosis as a first sign of childhood ocular myasthenia gravis

scientific article

Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia

scientific article published on 01 January 2020

Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis

scientific article published in May 2016

Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation

scientific article published in June 2011

Boucher-Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature.

scientific article published on 31 October 2014

C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations

scientific article published in August 2017

Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing

scientific article

Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center

scientific article published on 27 March 2013

Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.

scientific article published on 18 January 2017

Congenital Lamellar Cataract

scientific article published on 01 September 2014

Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene

scientific article

Die Neuritis nervi optici

scientific article published on 11 March 2011

Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa

scientific article published on 01 July 2019

Genotype-phenotype spectrum in isolated and syndromic nanophthalmos

scientific article published on 30 September 2020

Higher incidence of retinopathy of prematurity in extremely preterm infants associated with improved survival rates

scientific article published on 28 January 2020

Horizontal Gaze Palsy in Two Brothers with Compound Heterozygous ROBO3 Gene Mutations

scientific article

Infantile hemangiomas with conjunctival involvement: An underreported occurrence.

scientific article

Intra-familial phenotype variability in patients with Jalili syndrome

scientific article published on 23 January 2015

Iris cyst in a child with Aicardi syndrome: a novel association

scientific article published on 16 June 2016

Long-Term Follow-Up in Children with Anisocoria: Cocaine Test Results and Patient Outcome.

scientific article

Maculopathy following exposure to visible and infrared radiation from a laser pointer: a clinical case study.

scientific article

Multifocal electroretinogram: age-related changes for different luminance levels

scientific article published on 19 February 2002

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population

scientific article published on 14 May 2010

Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

scientific article published on 29 June 2016

Optic disc doubling or pseudo-optic disc in colobomatous retinal abnormality?

scientific article

Optical Coherence Tomography and Magnetic Resonance Imaging in Multiple Sclerosis and Neuromyelitis Optica Spectrum Disorder

scientific article

Outcome of Pediatric Cataract Surgeries in a Tertiary Center in Switzerland.

scientific article

Retinal Ganglion Cell Topography in Patients With Visual Pathway Pathology.

scientific article published on 21 November 2017

Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography

scientific article

Senescent Changes and Topography of the Dark-Adapted Multifocal Electroretinogram.

scientific article published on February 2017

Spontaneous Nystagmus in the Dark in an Infantile Nystagmus Patient May Represent Negative Optokinetic Afternystagmus.

scientific article

Teaching NeuroImages: Recurrent oculomotor palsies caused by neurosarcoidosis

scientific article published on 01 July 2016

The impulse response of the aging visual system: Comparison of psychophysical and electrophysiological data

Unusual retinopathy in a child with severe combined immune deficiency.

scientific article published on 16 August 2017

Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes

scientific article published on 06 January 2021

Yellow stains and what now?

scientific article

[Ciliopathies]

scientific article published on 13 March 2018

[Ocular Phenotype and Complications in Patients with Tuberous Sclerosis Complex (TSC)]

scientific article published on 14 February 2019

[Unusual congenital iris finding]

scientific article published on 01 March 2018

List of works by Christina Gerth-kahlert

A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma

Alternating IV nerve palsy and ptosis as a first sign of childhood ocular myasthenia gravis

Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia

Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis

Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation

Boucher-Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature.

C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations

Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing

Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center

Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.

Congenital Lamellar Cataract

Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene

Die Neuritis nervi optici

Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa

Genotype-phenotype spectrum in isolated and syndromic nanophthalmos

Higher incidence of retinopathy of prematurity in extremely preterm infants associated with improved survival rates

Horizontal Gaze Palsy in Two Brothers with Compound Heterozygous ROBO3 Gene Mutations

Infantile hemangiomas with conjunctival involvement: An underreported occurrence.

Intra-familial phenotype variability in patients with Jalili syndrome

Iris cyst in a child with Aicardi syndrome: a novel association

Long-Term Follow-Up in Children with Anisocoria: Cocaine Test Results and Patient Outcome.

Maculopathy following exposure to visible and infrared radiation from a laser pointer: a clinical case study.

Multifocal electroretinogram: age-related changes for different luminance levels

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population

Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

Optic disc doubling or pseudo-optic disc in colobomatous retinal abnormality?

Optical Coherence Tomography and Magnetic Resonance Imaging in Multiple Sclerosis and Neuromyelitis Optica Spectrum Disorder

Outcome of Pediatric Cataract Surgeries in a Tertiary Center in Switzerland.

Retinal Ganglion Cell Topography in Patients With Visual Pathway Pathology.

Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography

Senescent Changes and Topography of the Dark-Adapted Multifocal Electroretinogram.

Spontaneous Nystagmus in the Dark in an Infantile Nystagmus Patient May Represent Negative Optokinetic Afternystagmus.

Teaching NeuroImages: Recurrent oculomotor palsies caused by neurosarcoidosis

The impulse response of the aging visual system: Comparison of psychophysical and electrophysiological data

Unusual retinopathy in a child with severe combined immune deficiency.

Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes

Yellow stains and what now?

[Ciliopathies]

[Ocular Phenotype and Complications in Patients with Tuberous Sclerosis Complex (TSC)]

[Unusual congenital iris finding]