List of works - Diana Mitter

A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring

scientific article

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

scientific article

Activity-dependent changes of the presynaptic synaptophysin-synaptobrevin complex in adult rat brain ⬇️

scientific article published on October 1, 2001

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

scientific article published on 10 December 2019

Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father

scientific article published on 01 March 2008

Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1.

scientific article published in May 2010

Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions.

scientific article

Identification of a mutation in exon 27 of the RB1 gene associated with incomplete penetrance retinoblastoma.

scientific article published on 29 May 2008

Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR.

scientific article

MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features.

scientific article published on 25 July 2012

PEDIA: prioritization of exome data by image analysis

scientific article published on 05 June 2019

The human retinoblastoma gene is imprinted

scientific article

The synaptophysin/synaptobrevin complex dissociates independently of neuroexocytosis.

scientific article published in July 2004

The synaptophysin/synaptobrevin interaction critically depends on the cholesterol content.

scientific article

Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin

scientific article published on 13 June 2012

[Estrogen receptor Beta isoforms -- functions and clinical relevance in breast cancer]

scientific article published on 01 August 2005

List of works by Diana Mitter

A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

Activity-dependent changes of the presynaptic synaptophysin-synaptobrevin complex in adult rat brain ⬇️

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father

Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1.

Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions.

Identification of a mutation in exon 27 of the RB1 gene associated with incomplete penetrance retinoblastoma.

Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR.

MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features.

PEDIA: prioritization of exome data by image analysis

The human retinoblastoma gene is imprinted

The synaptophysin/synaptobrevin complex dissociates independently of neuroexocytosis.

The synaptophysin/synaptobrevin interaction critically depends on the cholesterol content.

Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin

[Estrogen receptor Beta isoforms -- functions and clinical relevance in breast cancer]