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Variants in nuclear factor I genes influence growth and development.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 611, doi. 10.1002/ajmg.c.31747
By:
- Zenker, Martin;
- Bunt, Jens;
- Schanze, Ina;
- Schanze, Denny;
- Piper, Michael;
- Priolo, Manuela;
- Gerkes, Erica H.;
- Gronostajski, Richard M.;
- Richards, Linda J.;
- Vogt, Julie;
- Wessels, Marja W.;
- Hennekam, Raoul C.
Publication type:
Article
A 2q24.2 microdeletion containing TANK as novel candidate gene for intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 832, doi. 10.1002/ajmg.a.61093
By:
- Karoglan, Ante;
- Schanze, Denny;
- Bär, Claudia;
- Muschke, Petra;
- Zenker, Martin;
- Schanze, Ina
Publication type:
Article
Copy number variants including RAS pathway genes-How much RASopathy is in the phenotype?
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2685, doi. 10.1002/ajmg.a.37155
By:
- Lissewski, Christina;
- Kant, Sarina G.;
- Stark, Zornitza;
- Schanze, Ina;
- Zenker, Martin
Publication type:
Article
HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3162, doi. 10.1002/ajmg.a.36766
By:
- Reuter, Miriam S.;
- Sass, Jörn Oliver;
- Leis, Thomas;
- Köhler, Julia;
- Mayr, Johannes A.;
- Feichtinger, RENé G.;
- Rauh, Manfred;
- Schanze, Ina;
- Bähr, Luzy;
- Trollmann, Regina;
- Uebe, SteffEN;
- Ekici, Arif B.;
- Reis, André
Publication type:
Article
A cryptic unbalanced translocation der(4)t(4;17)(p16.1;q25.3) identifies Wittwer syndrome as a variant of Wolf-Hirschhorn syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3213, doi. 10.1002/ajmg.a.36765
By:
- Wieland, Ilse;
- Schanze, Denny;
- Schanze, Ina;
- Volleth, Marianne;
- Muschke, Petra;
- Zenker, Martin
Publication type:
Article
Evaluation of Chromosome 11p Imbalances in Aniridia and Wilms Tumor Patients.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 958, doi. 10.1002/ajmg.a.35818
By:
- Busch, Maike;
- Leube, Barbara;
- Thiel, Anne;
- Schanze, Ina;
- Beier, Manfred;
- Royer‐Pokora, Brigitte
Publication type:
Article
Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup.
Published in:
British Journal of Haematology, 2024, v. 204, n. 2, p. 595, doi. 10.1111/bjh.19190
By:
- Ramamoorthy, Senthilkumar;
- Lebrecht, Dirk;
- Schanze, Denny;
- Schanze, Ina;
- Wieland, Ilse;
- Andrieux, Geoffroy;
- Metzger, Patrick;
- Hess, Maria;
- Albert, Michael H.;
- Borkhardt, Arndt;
- Bresters, Dorine;
- Buechner, Jochen;
- Catala, Albert;
- De Haas, Valerie;
- Dworzak, Michael;
- Erlacher, Miriam;
- Hasle, Henrik;
- Jahnukainen, Kirsi;
- Locatelli, Franco;
- Masetti, Riccardo
Publication type:
Article
Correlation of PET-MRI, Pathology, LOH, and Surgical Success in a Case of CHI With Atypical Large Pancreatic Focus.
Published in:
Journal of the Endocrine Society, 2022, v. 6, n. 6, p. 1, doi. 10.1210/jendso/bvac056
By:
- Vossschulte, Hendrik;
- Mohnike, Konrad;
- Mohnike, Klaus;
- Warncke, Katharina;
- Akcay, Ayse;
- Zenker, Martin;
- Wieland, Ilse;
- Schanze, Ina;
- Hoefele, Julia;
- Förster, Christine;
- Barthlen, Winfried;
- Stahlberg, Kim;
- Empting, Susann
Publication type:
Article
Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis.
Published in:
Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 6, p. 774, doi. 10.1002/mgg3.319
By:
- Sukalo, Maja;
- Schäflein, Eva;
- Schanze, Ina;
- Everman, David B.;
- Rezaei, Nima;
- Argente, Jesús;
- Lorda‐Sanchez, Isabel;
- Deshpande, Charu;
- Takahashi, Tsutomu;
- Kleger, Alexander;
- Zenker, Martin
Publication type:
Article
Sema3a plays a role in the pathogenesis of CHARGE syndrome.
Published in:
Human Molecular Genetics, 2018, v. 27, n. 8, p. 1343, doi. 10.1093/hmg/ddy045
By:
- Ufartes, Roser;
- Schwenty-Lara, Janina;
- Freese, Luisa;
- Neuhofer, Christiane;
- Möller, Janika;
- Wehner, Peter;
- van Ravenswaaij-Arts, Conny M. A.;
- Wong, Monica T. Y.;
- Schanze, Ina;
- Tzschach, Andreas;
- Bartsch, Oliver;
- Borchers, Annette;
- Pauli, Silke
Publication type:
Article
Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism.
Published in:
Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.1015244
By:
- Wieland, Ilse;
- Schanze, Ina;
- Felgendreher, Ina Marianti;
- Barthlen, Winfried;
- Vogelgesang, Silke;
- Mohnike, Klaus;
- Zenker, Martin
Publication type:
Article
Pathogenic PTPN11 variants involving the poly‐glutamine Gln255‐Gln256‐Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation.
Published in:
Human Mutation, 2020, v. 41, n. 6, p. 1171, doi. 10.1002/humu.24007
By:
- Martinelli, Simone;
- Pannone, Luca;
- Lissewski, Christina;
- Brinkmann, Julia;
- Flex, Elisabetta;
- Schanze, Denny;
- Calligari, Paolo;
- Anselmi, Massimiliano;
- Pantaleoni, Francesca;
- Canale, Viviana Claudia;
- Radio, Francesca Clementina;
- Ioannides, Adonis;
- Rahner, Nils;
- Schanze, Ina;
- Josifova, Dragana;
- Bocchinfuso, Gianfranco;
- Ryten, Mina;
- Stella, Lorenzo;
- Tartaglia, Marco;
- Zenker, Martin
Publication type:
Article
Altered GPM6A/M6 Dosage Impairs Cognition and Causes Phenotypes Responsive to Cholesterol in Human and Drosophila.
Published in:
Human Mutation, 2014, v. 35, n. 12, p. 1495, doi. 10.1002/humu.22697
By:
- Gregor, Anne;
- Kramer, Jamie M.;
- Voet, Monique;
- Schanze, Ina;
- Uebe, Steffen;
- Donders, Rogier;
- Reis, André;
- Schenck, Annette;
- Zweier, Christiane
Publication type:
Article
Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu-Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall- Smith Syndrome.
Published in:
Human Mutation, 2014, v. 35, n. 9, p. 1092, doi. 10.1002/humu.22603
By:
- Schanze, Denny;
- Neubauer, Dorothée;
- Cormier‐Daire, Valerie;
- Delrue, Marie‐Ange;
- Dieux‐Coeslier, Anne;
- Hasegawa, Tomonobu;
- Holmberg, Eva E.;
- Koenig, Rainer;
- Krueger, Gabriele;
- Schanze, Ina;
- Seemanova, Eva;
- Shaw, Adam C.;
- Vogt, Julie;
- Volleth, Marianne;
- Reis, André;
- Meinecke, Peter;
- Hennekam, Raoul C.M.;
- Zenker, Martin
Publication type:
Article
Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors.
Published in:
Molecular Syndromology, 2016, v. 6, n. 5, p. 210, doi. 10.1159/000441408
By:
- Hochstenbach, Ron;
- Nowakowska, Beata;
- Volleth, Marianne;
- Ummels, Amber;
- Kutkowska-Kaźmierczak, Anna;
- Obersztyn, Ewa;
- Ziemkiewicz, Kamila;
- Gerloff, Claudia;
- Schanze, Denny;
- Zenker, Martin;
- Muschke, Petra;
- Schanze, Ina;
- Poot, Martin;
- Liehr, Thomas
Publication type:
Article

Found: 15

Variants in nuclear factor I genes influence growth and development.

A 2q24.2 microdeletion containing TANK as novel candidate gene for intellectual disability.

Copy number variants including RAS pathway genes-How much RASopathy is in the phenotype?

HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.

A cryptic unbalanced translocation der(4)t(4;17)(p16.1;q25.3) identifies Wittwer syndrome as a variant of Wolf-Hirschhorn syndrome.

Evaluation of Chromosome 11p Imbalances in Aniridia and Wilms Tumor Patients.

Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup.

Correlation of PET-MRI, Pathology, LOH, and Surgical Success in a Case of CHI With Atypical Large Pancreatic Focus.

Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis.

Sema3a plays a role in the pathogenesis of CHARGE syndrome.

Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism.

Pathogenic PTPN11 variants involving the poly‐glutamine Gln<sup>255</sup>‐Gln<sup>256</sup>‐Gln<sup>257</sup> stretch highlight the relevance of helix B in SHP2's functional regulation.

Altered GPM6A/M6 Dosage Impairs Cognition and Causes Phenotypes Responsive to Cholesterol in Human and Drosophila.

Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu-Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall- Smith Syndrome.

Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors.