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Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3784, doi. 10.1002/ajmg.a.62447
By:
- Kolvenbach, Caroline M.;
- van der Ven, Amelie T.;
- Kause, Franziska;
- Shril, Shirlee;
- Scala, Marcello;
- Connaughton, Dervla M.;
- Mann, Nina;
- Nakayama, Makiko;
- Dai, Rufeng;
- Kitzler, Thomas M.;
- Schneider, Ronen;
- Schierbaum, Luca;
- Schneider, Sophia;
- Accogli, Andrea;
- Torella, Annalaura;
- Piatelli, Gianluca;
- Nigro, Vincenzo;
- Capra, Valeria;
- Hoppe, Bernd;
- Märzheuser, Stefanie
Publication type:
Article
Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations.
Published in:
Birth Defects Research, 2017, v. 109, p. 1063, doi. 10.1002/bdr2.1042
By:
- Zhang, Rong;
- Marsch, Florian;
- Kause, Franziska;
- Degenhardt, Franziska;
- Schmiedeke, Eeberhard;
- Märzheuser, Stefanie;
- Hoppe, Bernd;
- Bachour, Haitham;
- Boemers, Thomas M.;
- Schäfer, Matthias;
- Spychalski, Nicole;
- Neser, Jörg;
- Leonhardt, Johannes;
- Kosch, Ferdinand;
- Ure, Benno;
- Gómez, Barbara;
- Lacher, Martin;
- Deffaa, Oliver J.;
- Palta, Markus;
- Wittekindt, Boris
Publication type:
Article
Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations.
Published in:
Birth Defects Research, 2017, v. 109, n. 13, p. 1063, doi. 10.1002/bdr2.1042
By:
- Zhang, Rong;
- Marsch, Florian;
- Kause, Franziska;
- Degenhardt, Franziska;
- Schmiedeke, Eeberhard;
- Märzheuser, Stefanie;
- Hoppe, Bernd;
- Bachour, Haitham;
- Boemers, Thomas M.;
- Schäfer, Matthias;
- Spychalski, Nicole;
- Neser, Jörg;
- Leonhardt, Johannes;
- Kosch, Ferdinand;
- Ure, Benno;
- Gómez, Barbara;
- Lacher, Martin;
- Deffaa, Oliver J.;
- Palta, Markus;
- Wittekindt, Boris
Publication type:
Article
HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum.
Published in:
Birth Defects Research, 2019, v. 111, n. 10, p. 591, doi. 10.1002/bdr2.1493
By:
- Kause, Franziska;
- Zhang, Rong;
- Ludwig, Michael;
- Schmiedeke, Eberhard;
- Rissmann, Anke;
- Thiele, Holger;
- Altmueller, Janine;
- Herms, Stefan;
- Hilger, Alina C.;
- Hildebrandt, Friedhelm;
- Reutter, Heiko
Publication type:
Article
Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchio-otic syndrome and esophageal atresia: Coincidence or a digenic mode of inheritance?
Published in:
Molecular Medicine Reports, 2018, v. 17, n. 2, p. 3200, doi. 10.3892/mmr.2017.8196
By:
- Kause, Franziska;
- Reutter, Heiko;
- Marsch, Florian;
- Thiele, Holger;
- Altmüller, Janine;
- Ludwig, Michael;
- Zhang, Rong
Publication type:
Article

Found: 5

Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes.

Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations.

Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations.

HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum.

Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchio-otic syndrome and esophageal atresia: Coincidence or a digenic mode of inheritance?