Search the collection

17 results for Mitter,+Diana

Sort by:

Sort by

Limit results to:

20 per page

17 results for Mitter,+Diana

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
ArticlesPeer ReviewedFull Text
The Human Retinoblastoma Gene Is Imprinted
Author / Creator:Kanber, Deniz ; Berulava, Tea ; Ammerpohl, Ole ; Mitter, Diana ; Richter, Julia ; Siebert, Reiner ; Horsthemke, Bernhard ; Lohmann, Dietmar ; Buiting, Karin
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2009-12, Vol.5 (12), p.e1000790
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
Germline AGO2 mutations impair RNA interference and human neurological development
Author / Creator:Lessel, Davor ; Zeitler, Daniela M. ; Reijnders, Margot R. F. ; Kazantsev, Andriy ; Hassani Nia, Fatemeh ; Bartholomäus, Alexander ; Martens, Victoria ; Bruckmann, Astrid ; Graus, Veronika ; McConkie-Rosell, Allyn ; McDonald, Marie ; Lozic, Bernarda ; Tan, Ee-Shien ; Gerkes, Erica ; Johannsen, Jessika ; Denecke, Jonas ; Telegrafi, Aida ; Zonneveld-Huijssoon, Evelien ; Lemmink, Henny H. ; Cham, Breana W. M. ; Kovacevic, Tanja ; Ramsdell, Linda ; Foss, Kimberly ; Le Duc, Diana ; Mitter, Diana ; Syrbe, Steffen ; Merkenschlager, Andreas ; Sinnema, Margje ; Panis, Bianca ; Lazier, Joanna ; Osmond, Matthew ; Hartley, Taila ; Mortreux, Jeremie ; Busa, Tiffany ; Missirian, Chantal ; Prasun, Pankaj ; Lüttgen, Sabine ; Mannucci, Ilaria ; Lessel, Ivana ; Schob, Claudia ; Kindler, Stefan ; Pappas, John ; Rabin, Rachel ; Willemsen, Marjolein ; Gardeitchik, Thatjana ; Löhner, Katharina ; Rump, Patrick ; Dias, Kerith-Rae ; Evans, Carey-Anne ; Andrews, Peter Ian ; Roscioli, Tony ; Brunner, Han G. ; Chijiwa, Chieko ; Lewis, M. E. Suzanne ; Jamra, Rami Abou ; Dyment, David A. ; Boycott, Kym M. ; Stegmann, Alexander P. A. ; Kubisch, Christian ; Tan, Ene-Choo ; Mirzaa, Ghayda M. ; McWalter, Kirsty ; Kleefstra, Tjitske ; Pfundt, Rolph ; Ignatova, Zoya ; Meister, Gunter ; Kreienkamp, Hans-Jürgen
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2020-11, Vol.11 (1), p.5797-14, Article 5797
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
Author / Creator:Kouz, Karim ; Lissewski, Christina ; Spranger, Stephanie ; Mitter, Diana ; Riess, Angelika ; Lopez-Gonzalez, Vanesa ; Lüttgen, Sabine ; Aydin, Hatip ; von Deimling, Florian ; Evers, Christina ; Hahn, Andreas ; Hempel, Maja ; Issa, Ulrike ; Kahlert, Anne-Karin ; Lieb, Adrian ; Villavicencio-Lorini, Pablo ; Ballesta-Martinez, Maria Juliana ; Nampoothiri, Sheela ; Ovens-Raeder, Angela ; Puchmajerová, Alena ; Satanovskij, Robin ; Seidel, Heide ; Unkelbach, Stephan ; Zabel, Bernhard ; Kutsche, Kerstin ; Zenker, Martin
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2016-12, Vol.18 (12), p.1226-1234
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants
Author / Creator:Mitter, Diana ; Pringsheim, Milka ; Kaulisch, Marc ; Plümacher, Kim Sarah ; Schröder, Simone ; Warthemann, Rita ; Abou Jamra, Rami ; Baethmann, Martina ; Bast, Thomas ; Büttel, Hans-Martin ; Cohen, Julie S. ; Conover, Elizabeth ; Courage, Carolina ; Eger, Angelika ; Fatemi, Ali ; Grebe, Theresa A. ; Hauser, Natalie S. ; Heinritz, Wolfram ; Helbig, Katherine L. ; Heruth, Marion ; Huhle, Dagmar ; Höft, Karen ; Karch, Stephanie ; Kluger, Gerhard ; Korenke, G. Christoph ; Lemke, Johannes R. ; Lutz, Richard E. ; Patzer, Steffi ; Prehl, Isabelle ; Hoertnagel, Konstanze ; Ramsey, Keri ; Rating, Tina ; Rieß, Angelika ; Rohena, Luis ; Schimmel, Mareike ; Westman, Rachel ; Zech, Frank-Martin ; Zoll, Barbara ; Malzahn, Dörthe ; Zirn, Birgit ; Brockmann, Knut
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2018-01, Vol.20 (1), p.98-108
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
Genotype–phenotype correlations in patients with retinoblastoma and interstitial 13q deletions
Author / Creator:Mitter, Diana ; Ullmann, Reinhard ; Muradyan, Artur ; Klein-Hitpaß, Ludger ; Kanber, Deniz ; Õunap, Katrin ; Kaulisch, Marc ; Lohmann, Dietmar
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2011-09, Vol.19 (9), p.947-958
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients
Author / Creator:Renner, Sina ; Schüler, Helke ; Alawi, Malik ; Kolbe, Verena ; Rybczynski, Meike ; Woitschach, Rixa ; Sheikhzadeh, Sara ; Stark, Veronika C. ; Olfe, Jakob ; Roser, Elke ; Seggewies, Friederike Sophia ; Mahlmann, Adrian ; Hempel, Maja ; Hartmann, Melanie J. ; Hillebrand, Mathias ; Wieczorek, Dagmar ; Volk, Alexander Erich ; Kloth, Katja ; Koch-Hogrebe, Margarete ; Abou Jamra, Rami ; Mitter, Diana ; Altmüller, Janine ; Wey-Fabrizius, Alexandra ; Petersen, Christine ; Rau, Isabella ; Borck, Guntram ; Kubisch, Christian ; Mir, Thomas S. ; von Kodolitsch, Yskert ; Kutsche, Kerstin ; Rosenberger, Georg
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-08, Vol.21 (8), p.1832-1841
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring
Author / Creator:Rump, Andreas ; Hildebrand, Laura ; Tzschach, Andreas ; Ullmann, Reinhard ; Schrock, Evelin ; Mitter, Diana
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2013-08, Vol.21 (8), p.887-890
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesPeer ReviewedFull Text
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss
Author / Creator:Ebermann, Inga ; Scholl, Hendrik P. N. ; Charbel Issa, Peter ; Becirovic, Elvir ; Lamprecht, Jürgen ; Jurklies, Bernhard ; Millán, José M. ; Aller, Elena ; Mitter, Diana ; Bolz, Hanno
Publisher:Heidelberg: Springer
Journal title:Human genetics, 2007-04, Vol.121 (2), p.203-211
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesPeer ReviewedFull Text
A 33-year-old male patient with paternal derived duplication of 14q11.2–14q22.1~22.3: clinical course, phenotypic and genotypic findings
Author / Creator:Wannenmacher, Bardo ; Mitter, Diana ; Kießling, Franziska ; Liehr, Thomas ; Weise, Anja ; Siekmeyer, Manuela ; Kiess, Wieland
Publisher:Germany: Walter de Gruyter GmbH
Journal title:Journal of Pediatric Endocrinology & Metabolism, 2016-05, Vol.29 (5), p.611-616
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
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...
Author / Creator:Neuhaus, Christine ; Eisenberger, Tobias ; Decker, Christian ; Nagl, Sandra ; Blank, Cornelia ; Pfister, Markus ; Kennerknecht, Ingo ; Müller‐Hofstede, Cornelie ; Charbel Issa, Peter ; Heller, Raoul ; Beck, Bodo ; Rüther, Klaus ; Mitter, Diana ; Rohrschneider, Klaus ; Steinhauer, Ute ; Korbmacher, Heike M. ; Huhle, Dagmar ; Elsayed, Solaf M. ; Taha, Hesham M. ; Baig, Shahid M. ; Stöhr, Heidi ; Preising, Markus ; Markus, Susanne ; Moeller, Fabian ; Lorenz, Birgit ; Nagel‐Wolfrum, Kerstin ; Khan, Arif O. ; Bolz, Hanno J.
Publisher:United States: John Wiley and Sons Inc
Journal title:Molecular genetics & genomic medicine, 2017-09, Vol.5 (5), p.531-552
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/− mice
Author / Creator:Pringsheim, Milka ; Mitter, Diana ; Schröder, Simone ; Warthemann, Rita ; Plümacher, Kim ; Kluger, Gerhard ; Baethmann, Martina ; Bast, Thomas ; Braun, Sarah ; Büttel, Hans‐Martin ; Conover, Elizabeth ; Courage, Carolina ; Datta, Alexandre N. ; Eger, Angelika ; Grebe, Theresa A. ; Hasse‐Wittmer, Annette ; Heruth, Marion ; Höft, Karen ; Kaindl, Angela M. ; Karch, Stephanie ; Kautzky, Torsten ; Korenke, Georg C. ; Kruse, Bernd ; Lutz, Richard E. ; Omran, Heymut ; Patzer, Steffi ; Philippi, Heike ; Ramsey, Keri ; Rating, Tina ; Rieß, Angelika ; Schimmel, Mareike ; Westman, Rachel ; Zech, Frank‐Martin ; Zirn, Birgit ; Ulmke, Pauline A. ; Sokpor, Godwin ; Tuoc, Tran ; Leha, Andreas ; Staudt, Martin ; Brockmann, Knut
Publisher:United States: John Wiley and Sons Inc
Journal title:Annals of clinical and translational neurology, 2019-04, Vol.6 (4), p.655-668
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
ArticlesPeer ReviewedFull Text
Genotype-phenotype correlations in patients with Retinoblastoma and an interstitial 13q deletion
Author / Creator:Mitter, Diana ; Ullmann, Reinhard ; Muradyan, Artur ; Klein-Hitpass, Ludger ; Kanber, Deniz ; Lohmann, Dietmar R ; Ounap, Katrin ; Kaulisch, Marc
Publisher:Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2011-04
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesPeer ReviewedFull Text
The Human Retinoblastoma Gene Is Imprinted: e1000790
Author / Creator:Kanber, Deniz ; Berulava, Tea ; Ammerpohl, Ole ; Mitter, Diana ; Richter, Julia ; Siebert, Reiner ; Horsthemke, Bernhard ; Lohmann, Dietmar ; Buiting, Karin
Publisher:San Francisco: Public Library of Science
Journal title:PLoS genetics, 2009-12, Vol.5 (12)
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ArticlesPeer ReviewedFull Text
Structural brain anomalies in patients with FOXG 1 syndrome and in Foxg1+/− mice
Author / Creator:Pringsheim, Milka ; Mitter, Diana ; Schröder, Simone ; Warthemann, Rita ; Plümacher, Kim ; Kluger, Gerhard ; Baethmann, Martina ; Bast, Thomas ; Braun, Sarah ; Büttel, Hans‐Martin ; Conover, Elizabeth ; Courage, Carolina ; Datta, Alexandre N. ; Eger, Angelika ; Grebe, Theresa A. ; Hasse‐Wittmer, Annette ; Heruth, Marion ; Höft, Karen ; Kaindl, Angela M. ; Karch, Stephanie ; Kautzky, Torsten ; Korenke, Georg C. ; Kruse, Bernd ; Lutz, Richard E. ; Omran, Heymut ; Patzer, Steffi ; Philippi, Heike ; Ramsey, Keri ; Rating, Tina ; Rieß, Angelika ; Schimmel, Mareike ; Westman, Rachel ; Zech, Frank‐Martin ; Zirn, Birgit ; Ulmke, Pauline A. ; Sokpor, Godwin ; Tuoc, Tran ; Leha, Andreas ; Staudt, Martin ; Brockmann, Knut
Publisher:Bognor Regis: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2019-04, Vol.6 (4), p.655-668
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
Next‐generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read‐through, and PEX 26...
Author / Creator:Neuhaus, Christine ; Eisenberger, Tobias ; Decker, Christian ; Nagl, Sandra ; Blank, Cornelia ; Pfister, Markus ; Kennerknecht, Ingo ; Cornelie Müller‐Hofstede ; Issa, Peter Charbel ; Heller, Raoul ; Beck, Bodo ; Rüther, Klaus ; Mitter, Diana ; Rohrschneider, Klaus ; Steinhauer, Ute ; Korbmacher, Heike M ; Huhle, Dagmar ; Elsayed, Solaf M ; Taha, Hesham M ; Baig, Shahid M ; Stöhr, Heidi ; Preising, Markus ; Markus, Susanne ; Moeller, Fabian ; Lorenz, Birgit ; Kerstin Nagel‐Wolfrum ; Khan, Arif O ; Bolz, Hanno J
Publisher:Bognor Regis: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2017-09, Vol.5 (5), p.531-552
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 16
ArticlesPeer ReviewedFull Text
Identification of a mutation in exon 27 of the RB1 gene associated with incomplete penetrance retinoblastoma
Author / Creator:Mitter, Diana ; Rushlow, Diane ; Nowak, Inga ; Ansperger-Rescher, Birgit ; Gallie, Brenda L. ; Lohmann, Dietmar R.
Publisher:Dordrecht: Springer Netherlands
Journal title:Familial cancer, 2009-03, Vol.8 (1), p.55-58
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 17
ArticlesFull Text
Scientific evaluation of negative exome sequencing followed by systematic scoring of candidate genes to decipher the genetics of neurodevelopmental disorders
Author / Creator:Buttner, Benjamin ; Martin, Sonja ; Finck, Anja ; Arelin, Maria ; Baade-Buttner, Carolin ; Bartolomaeus, Tobias ; Bauer, Peter ; Bertsche, Astrid ; Bernhard, Matthias K ; Biskup, Saskia ; Nataliya Di Donato ; Elgizouli, Magdeldin ; Ewald, Roland ; Heine, Constanze ; Hellenbroich, Yorck ; Hentschel, Julia ; Hoffjan, Sabine ; Horn, Susanne ; Hornemann, Frauke ; Huhle, Dagmar ; Kamphausen, Susanne B ; Kiess, Wieland ; Krey, Ilona ; Kuechler, Alma ; Liesfeld, Ben ; Merkenschlager, Andreas ; Mitter, Diana ; Muschke, Petra ; Pfaffle, Roland ; Polster, Tilman ; Schanze, Ina ; Jan-Ulrich Schlump ; Syrbe, Steffen ; Wieczorek, Dagmar ; Zenker, Martin ; Lemke, Johannes R ; Diana Le Duc ; Platzer, Konrad ; Rami Abou Jamra
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2019-03
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Export record to excel

Export this record

Export record to excel

The Human Retinoblastoma Gene Is Imprinted

Export this record

Export record to excel

Germline AGO2 mutations impair RNA interference and human neurological development

Export this record

Export record to excel

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

Export this record

Export record to excel

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

Export this record

Export record to excel

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

Export this record

Export record to excel

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

Export this record

Export record to excel

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

Export this record

Export record to excel

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

Export this record

Export record to excel

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

Export this record

Export record to excel

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...

Export this record

Export record to excel

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

Export this record

Export record to excel

Genotype-phenotype correlations in patients with Retinoblastoma and an interstitial 13q deletion

Export this record

Export record to excel

The Human Retinoblastoma Gene Is Imprinted: e1000790

Export this record

Export record to excel

Structural brain anomalies in patients with FOXG 1 syndrome and in Foxg1+/− mice

Export this record

Export record to excel

Next‐generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read‐through, and PEX 26...

Export this record

Export record to excel

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

Export this record

Export record to excel

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

Refine your search