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Author/Creator Schanze, Denny

3. Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS–FREM complex disorders. Issue 12 (24th September 2013)

Authors:
Schanze, Denny; Harakalova, Magdalena; Stevens, Cathy A.; Brancati, Francesco; Dallapiccola, Bruno; Farndon, Peter; Ferraz, Victor E. F.; McDonald‐McGinn, Donna M.; Zackai, Elaine H.; Wright, Michael; van Lieshout, Stef; Vogel, Maartje J.; van Haelst, Mieke M.; Zenker, Martin
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 12(2013:Dec.)
Page Start:
3012
Record Type:
Journal Article
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4. Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS–FREM complex disorders. Issue 12 (24th September 2013)

Authors:
Schanze, Denny; Harakalova, Magdalena; Stevens, Cathy A.; Brancati, Francesco; Dallapiccola, Bruno; Farndon, Peter; Ferraz, Victor E. F.; McDonald‐McGinn, Donna M.; Zackai, Elaine H.; Wright, Michael; van Lieshout, Stef; Vogel, Maartje J.; van Haelst, Mieke M.; Zenker, Martin
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 12(2013:Dec.)
Page Start:
3012
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy. (21st May 2019)

Authors:
Motta, Marialetizia; Sagi-Dain, Lena; Krumbach, Oliver H F; Hahn, Andreas; Peleg, Amir; German, Alina; Lissewski, Christina; Coppola, Simona; Pantaleoni, Francesca; Kocherscheid, Luisa; Altmüller, Franziska; Schanze, Denny; Logeswaran, Thushiha; Chahrokh-Zadeh, Soheyla; Munzig, Anna; Nakhaei-Rad,...
Journal:
Human molecular genetics
Issue:
Volume 29:Number 11(2020)
Page Start:
1772
Record Type:
Journal Article
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6. ADA2 deficiency in a patient with Noonan syndrome‐like disorder with loose anagen hair: The co‐occurrence of two rare syndromes. Issue 12 (4th October 2019)

Authors:
Akgun‐Dogan, Ozlem; Simsek‐Kiper, Pelin O.; Taskiran, Ekim; Lissewski, Christina; Brinkmann, Julia; Schanze, Denny; Göçmen, Rahşan; Cagdas, Deniz; Bilginer, Yelda; Utine, Gülen E.; Zenker, Martin; Ozen, Seza; Tezcan, İlhan; Alikasifoglu, Mehmet; Boduroğlu, Koray
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 12(2019)
Page Start:
2474
Record Type:
Journal Article
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8. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. (October 2018)

Authors:
Johnston, Jennifer; van der Smagt, Jasper; Rosenfeld, Jill; Pagnamenta, Alistair; Alswaid, Abdulrahman; Baker, Eva; Blair, Edward; Borck, Guntram; Brinkmann, Julia; Craigen, William; Dung, Vu Chi; Emrick, Lisa; Everman, David; van Gassen, Koen; Gulsuner, Suleyman; Harr, Margaret; Jain, Mahim; Kue...
Journal:
Genetics in medicine
Issue:
Volume 20:Number 10(2018)
Page Start:
1175
Record Type:
Journal Article
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9. Characteristic dental pattern with hypodontia and short roots in Fraser syndrome. Issue 7 (2nd June 2020)

Authors:
Kunz, Felix; Kayserili, Hülya; Midro, Alina; de Silva, Deepthi; Basnayake, Sriyani; Güven, Yeliz; Borys, Jan; Schanze, Denny; Stellzig‐Eisenhauer, Angelika; Bloch‐Zupan, Agnes; Zenker, Martin
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 7(2020)
Page Start:
1681
Record Type:
Journal Article
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10. 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. Issue 9 (8th July 2014)

Authors:
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...
Journal:
Human mutation
Issue:
Volume 35:Issue 9(2014:Sep.)
Page Start:
1092
Record Type:
Journal Article
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