D. Mitter

发表

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

E. Aller, I. Ebermann, H. Scholl, 2007, Human Genetics.

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

D. Mitter, M. Zenker, H. Till, 2012, Molecular Syndromology.

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

A. Rump, D. Mitter, A. Tzschach, 2012, European Journal of Human Genetics.

Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients

D. Mitter, D. Wieczorek, R. Abou Jamra, 2019, Genetics in Medicine.

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

D. Mitter, L. Klein-Hitpass, K. Õunap, 2011, European Journal of Human Genetics.

Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/− mice

A. Leha, H. Omran, D. Mitter, 2019, Annals of clinical and translational neurology.

The Human Retinoblastoma Gene Is Imprinted

R. Siebert, J. Richter, D. Mitter, 2009, PLoS genetics.

The synaptophysin/synaptobrevin interaction critically depends on the cholesterol content

D. Mitter, T. Ohm, A. Herrmann, 2002, Journal of neurochemistry.

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

B. Gallie, D. Mitter, D. Lohmann, 2008, Familial Cancer.

Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes

M. Greene, D. Mitter, H. Peters, 2015, British Journal of Cancer.

Germline AGO2 mutations impair RNA interference and human neurological development

R. Pfundt, M. Reijnders, G. Meister, 2020, Nature Communications.

P. Kind, J. Hentschel, D. Mitter, 2018, Brain : a journal of neurology.

Estrogen receptor {beta}1 exerts antitumoral effects on SK-OV-3 ovarian cancer cells.

D. Mitter, G. Piendl, O. Ortmann, 2007, The Journal of endocrinology.

Estrogen receptor β1 exerts antitumoral effects on SK-OV-3 ovarian cancer cells

D. Mitter, G. Piendl, O. Ortmann, 2007 .

Novel peroxisome proliferator‐activated receptor gamma mutation in a family with familial partial lipodystrophy type 3

M. Fasshauer, M. Stumvoll, D. Mitter, 2016, Clinical endocrinology.

The synaptophysin/synaptobrevin complex dissociates independently of neuroexocytosis

D. Mitter, S. Yelamanchili, G. Ahnert-Hilger, 2004, Journal of neurochemistry.

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

A. Draguhn, U. Heinemann, D. Mitter, 2001, European journal of cell biology.

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

R. Siebert, G. Mortier, B. Menten, 2010, American journal of medical genetics. Part A.

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

A. Fatemi, D. Mitter, N. Hauser, 2017, Genetics in Medicine.

FOXG 1 syndrome : genotype – phenotype association in 83 patients with FOXG 1 variants

A. Fatemi, D. Mitter, N. Hauser, 2017 .

Duplication Xp11.22‐p14 in females: Does X‐inactivation help in assessing their significance?

A. Jauch, D. Mitter, C. Evers, 2015, American journal of medical genetics. Part A.

Estrogen receptor b1 exerts antitum oral effects on SK-OV-3 ovarian cancer cells

D. Mitter, G. Piendl, O. Ortmann, 2007 .

Estrogen receptor b 1 exerts antitum oral effects on SKOV-3 ovarian cancer cells

D. Mitter, G. Piendl, O. Ortmann, 2007 .

Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4

D. Mitter, J. Fischer, A. Irvine, 2019, Human mutation.

PEDIA: prioritization of exome data by image analysis

Borut Peterlin, Sebastian Köhler, Na Zhu, 2018, Genetics in Medicine.

Next‐generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read‐through, and PEX26 mutated in Heimler syndrome

B. Lorenz, H. Stöhr, P. Charbel Issa, 2017, Molecular genetics & genomic medicine.

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

P. Robinson, D. Mitter, K. Sperling, 2012, Molecular Syndromology.

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

D. Mitter, C. Evers, S. Nampoothiri, 2016, Genetics in Medicine.

Scientific evaluation of negative exome sequencing followed by systematic scoring of candidate genes to decipher the genetics of neurodevelopmental disorders

Diana Le Duc, P. Bauer, J. Hentschel, 2019, bioRxiv.

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

D. Mitter, D. Krakow, P. Meinecke, 2008, American journal of medical genetics. Part A.

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

D. Mitter, D. Wieczorek, U. Mau-Holzmann, 2006, American journal of medical genetics. Part A.

Molecular and clinical studies in 8 patients with Temple syndrome

D. Mitter, T. Eggermann, B. Albrecht, 2018, Clinical genetics.

Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch‐up Development

I. Simonic, Soo-Mi Park, D. Mitter, 2018, Annals of neurology.

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

D. Mitter, G. Rubboli, R. Møller, 2019, Neurology. Genetics.

A 33-year-old male patient with paternal derived duplication of 14q11.2–14q22.1~22.3: clinical course, phenotypic and genotypic findings

D. Mitter, T. Liehr, W. Kiess, 2016, Journal of pediatric endocrinology & metabolism : JPEM.

Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C

D. Mitter, L. Horn, W. Kiess, 2013, Aging.

Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome.

D. Mitter, M. Ziemer, J. Kohlhase, 2016, JAMA dermatology.

PEDIA: prioritization of exome data by image analysis

M. Nöthen, O. Bar, S. Köhler, 2018, Genetics in Medicine.

Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities

Ulrich Seidel, Uwe Kornak, Diana Mitter, 2017, American journal of medical genetics. Part A.

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

D. Mitter, O. Ortmann, O. Treeck, 2005, Zentralblatt fur Gynakologie.

Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients

D. Mitter, D. Wieczorek, R. Abou Jamra, 2019, Genetics in Medicine.

Late onset dHMN II caused by c.404C>G mutation in HSPB1 gene

J. Classen, D. Mitter, P. Baum, 2016, Journal of the peripheral nervous system : JPNS.