Lista de obras - Diana Mitter - Dominio Público Uruguay

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

artículo científico publicado en 2012

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

artículo científico publicado en 2007

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

artículo científico publicado el 1 de octubre de 2001

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

artículo científico publicado en 2019

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

artículo científico publicado en 2008

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

artículo científico publicado en 2010

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

artículo científico publicado en 2011

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

artículo científico publicado en 2008

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

artículo científico publicado en 2006

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

artículo científico publicado en 2012

PEDIA: prioritization of exome data by image analysis

artículo científico publicado en 2019

The human retinoblastoma gene is imprinted

artículo científico publicado en 2009

The synaptophysin/synaptobrevin complex dissociates independently of neuroexocytosis.

artículo científico publicado en 2004

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

artículo científico publicado en 2003

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

artículo científico publicado en 2012

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

artículo científico publicado en 2005

Lista de obras de 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]