OpenURL Connection Search

Select item for more details and to access through your institution.

Familial acute aortic dissection associated with a novel ACTA2 germline variant.
Published in:
2023
By:
- Strecker, Thomas;
- Wiesmueller, Felix;
- Rudnik-Schöneborn, Sabine;
- Hoyer, Juliane;
- Reis, André;
- Weyand, Michael;
- Agaimy, Abbas
Publication type:
Case Study
BRCA mutations and their influence on pathological complete response and prognosis in a clinical cohort of neoadjuvantly treated breast cancer patients.
Published in:
Breast Cancer Research & Treatment, 2018, v. 171, n. 1, p. 85, doi. 10.1007/s10549-018-4797-8
By:
- Wunderle, Marius;
- Gass, Paul;
- Häberle, Lothar;
- Flesch, Vivien M.;
- Rauh, Claudia;
- Bani, Mayada R.;
- Hack, Carolin C.;
- Schrauder, Michael G.;
- Jud, Sebastian M.;
- Emons, Julius;
- Erber, Ramona;
- Ekici, Arif B.;
- Hoyer, Juliane;
- Vasileiou, Georgia;
- Kraus, Cornelia;
- Reis, Andre;
- Hartmann, Arndt;
- Lux, Michael P.;
- Beckmann, Matthias W.;
- Fasching, Peter A.
Publication type:
Article
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
Published in:
2017
By:
- Reuter, Miriam S.;
- Tawamie, Hasan;
- Buchert, Rebecca;
- Gebril, Ola Hosny;
- Froukh, Tawfiq;
- Thiel, Christian;
- Uebe, Steffen;
- Ekici, Arif B.;
- Krumbiegel, Mandy;
- Zweier, Christiane;
- Hoyer, Juliane;
- Eberlein, Karolin;
- Bauer, Judith;
- Scheller, Ute;
- Strom, Tim M.;
- Hoffjan, Sabine;
- Abdelraouf, Ehab R.;
- Meguid, Nagwa A.;
- Abboud, Ahmad;
- Al Khateeb, Mohammed Ayman
Publication type:
journal article
Females with de novo aberrations in PHF6: Clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2014, v. 166C, n. 3, p. 290, doi. 10.1002/ajmg.c.31408
By:
- Zweier, Christiane;
- Rittinger, Olaf;
- Bader, Ingrid;
- Berland, Siren;
- Cole, Trevor;
- Degenhardt, Franziska;
- Di Donato, Nataliya;
- Graul‐Neumann, Luitgard;
- Hoyer, Juliane;
- Lynch, Sally Ann;
- Vlasak, Ingrid;
- Wieczorek, Dagmar
Publication type:
Article
Biallelic SEMA3A defects cause a novel type of syndromic short stature.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2880, doi. 10.1002/ajmg.a.36250
By:
- Hofmann, Kristin;
- Zweier, Markus;
- Sticht, Heinrich;
- Zweier, Christiane;
- Wittmann, Wolfgang;
- Hoyer, Juliane;
- Uebe, Steffen;
- van Haeringen, Arie;
- Thiel, Christian T.;
- Ekici, Arif B.;
- Reis, André;
- Rauch, Anita
Publication type:
Article
Cost effectiveness of bilateral risk-reducing mastectomy and salpingo-oophorectomy.
Published in:
European Journal of Medical Research, 2019, v. 24, n. 1, p. N.PAG, doi. 10.1186/s40001-019-0391-8
By:
- Schrauder, Michael G.;
- Brunel-Geuder, Lisa;
- Häberle, Lothar;
- Wunderle, Marius;
- Hoyer, Juliane;
- Csorba, Roland;
- Reis, André;
- Schulz-Wendtland, Rüdiger;
- Beckmann, Matthias W.;
- Lux, Michael P.
Publication type:
Article
Determinants Affecting the Clinical Implementation of a Molecularly Informed Molecular Tumor Board Recommendation: Experience from a Tertiary Cancer Center.
Published in:
Cancers, 2023, v. 15, n. 24, p. 5892, doi. 10.3390/cancers15245892
By:
- Tögel, Lars;
- Schubart, Christoph;
- Lettmaier, Sebastian;
- Neufert, Clemens;
- Hoyer, Juliane;
- Wolff, Kerstin;
- Moskalev, Evgeny A;
- Stöhr, Robert;
- Agaimy, Abbas;
- Reis, André;
- Wullich, Bernd;
- Mackensen, Andreas;
- Pavel, Marianne;
- Beckmann, Matthias W.;
- Hartmann, Arndt;
- Fietkau, Rainer;
- Meidenbauer, Norbert;
- Haller, Florian;
- Spoerl, Silvia
Publication type:
Article
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 5, p. 602, doi. 10.1038/ejhg.2014.150
By:
- Popp, Bernt;
- Støve, Svein I;
- Endele, Sabine;
- Myklebust, Line M;
- Hoyer, Juliane;
- Sticht, Heinrich;
- Azzarello-Burri, Silvia;
- Rauch, Anita;
- Arnesen, Thomas;
- Reis, André
Publication type:
Article
Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 8, p. 895, doi. 10.1038/ejhg.2010.45
By:
- Renard, Marjolijn;
- Holm, Tammy;
- Veith, Regan;
- Callewaert, Bert L.;
- Adès, Lesley C.;
- Baspinar, Osman;
- Pickart, Angela;
- Dasouki, Majed;
- Hoyer, Juliane;
- Rauch, Anita;
- Trapane, Pamela;
- Earing, Michael G.;
- Coucke, Paul J.;
- Sakai, Lynn Y.;
- Dietz, Harry C.;
- De Paepe, Anne M.;
- Loeys, Bart L.
Publication type:
Article
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1592, doi. 10.1038/ejhg.2009.90
By:
- Engels, Hartmut;
- Wohlleber, Eva;
- Zink, Alexander;
- Hoyer, Juliane;
- Ludwig, Kerstin U.;
- Brockschmidt, Felix F.;
- Wieczorek, Dagmar;
- Moog, Ute;
- Hellmann-Mersch, Birgit;
- Weber, Ruthild G.;
- Willatt, Lionel;
- Kreiß-Nachtsheim, Martina;
- Firth, Helen V.;
- Rauch, Anita
Publication type:
Article
Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria.
Published in:
2018
By:
- Hoyer, Juliane;
- Vasileiou, Georgia;
- Uebe, Steffen;
- Wunderle, Marius;
- Kraus, Cornelia;
- Fasching, Peter A.;
- Thiel, Christian T.;
- Hartmann, Arndt;
- Beckmann, Matthias W.;
- Lux, Michael P.;
- Reis, André
Publication type:
journal article
TRIM28 haploinsufficiency predisposes to Wilms tumor.
Published in:
International Journal of Cancer, 2019, v. 145, n. 4, p. 941, doi. 10.1002/ijc.32167
By:
- Diets, Illja J.;
- Hoyer, Juliane;
- Ekici, Arif B.;
- Popp, Bernt;
- Hoogerbrugge, Nicoline;
- Reijmersdal, Simon V.;
- Bhaskaran, Rajith;
- Hadjihannas, Michel;
- Vasileiou, Georgia;
- Thiel, Christian T.;
- Seven, Didem;
- Uebe, Steffen;
- Ilencikova, Denisa;
- Waanders, Esmé;
- Mavinkurve‐Groothuis, Annelies M.C.;
- Roeleveld, Nel;
- Krijger, Ronald R.;
- Wegert, Jenny;
- Graf, Norbert;
- Vokuhl, Christian
Publication type:
Article
Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.
Published in:
International Journal of Cancer, 2017, v. 140, n. 1, p. 95, doi. 10.1002/ijc.30428
By:
- Kraus, Cornelia;
- Hoyer, Juliane;
- Vasileiou, Georgia;
- Wunderle, Marius;
- Lux, Michael P.;
- Fasching, Peter A.;
- Krumbiegel, Mandy;
- Uebe, Steffen;
- Reuter, Miriam;
- Beckmann, Matthias W.;
- Reis, André
Publication type:
Article
Psychiatric Disorders and Distal 21q Deletion—A Case Report.
Published in:
International Journal of Environmental Research & Public Health, 2020, v. 17, n. 9, p. 3096, doi. 10.3390/ijerph17093096
By:
- Briegel, Wolfgang;
- Hoyer, Juliane
Publication type:
Article
Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group.
Published in:
Familial Cancer, 2021, v. 20, n. 4, p. 337, doi. 10.1007/s10689-021-00264-y
By:
- Bakhuizen, Jette J.;
- Hanson, Helen;
- van der Tuin, Karin;
- Lalloo, Fiona;
- Tischkowitz, Marc;
- Wadt, Karin;
- Jongmans, Marjolijn C. J.;
- SIOPE Host Genome Working Group;
- Dörgeloh, Beate B.;
- Farah, Roula A.;
- Glentis, Stavros;
- Golmard, Lisa;
- Hoyer, Juliane;
- Jahnukainen, Kirsi;
- Jewell, Rosalyn;
- Karow, Axel;
- Katsibardi, Katharina;
- Kuhlen, Michaela;
- Meinhardt, Andrea;
- Nemes, Karolina
Publication type:
Article
What's a Biofilm?—How the Choice of the Biofilm Model Impacts the Protein Inventory of Clostridioides difficile.
Published in:
Frontiers in Microbiology, 2021, v. 12, p. 1, doi. 10.3389/fmicb.2021.682111
By:
- Brauer, Madita;
- Lassek, Christian;
- Hinze, Christian;
- Hoyer, Juliane;
- Becher, Dörte;
- Jahn, Dieter;
- Sievers, Susanne;
- Riedel, Katharina
Publication type:
Article
Breast MRI texture analysis for prediction of BRCA-associated genetic risk.
Published in:
BMC Medical Imaging, 2020, v. 20, n. 1, p. 1, doi. 10.1186/s12880-020-00483-2
By:
- Vasileiou, Georgia;
- Costa, Maria J.;
- Long, Christopher;
- Wetzler, Iris R.;
- Hoyer, Juliane;
- Kraus, Cornelia;
- Popp, Bernt;
- Emons, Julius;
- Wunderle, Marius;
- Wenkel, Evelyn;
- Uder, Michael;
- Beckmann, Matthias W.;
- Jud, Sebastian M.;
- Fasching, Peter A.;
- Cavallaro, Alexander;
- Reis, André;
- Hammon, Matthias
Publication type:
Article
Rare Copy Number Variants Are a Common Cause of Short Stature.
Published in:
PLoS Genetics, 2013, v. 9, n. 3, p. 1, doi. 10.1371/journal.pgen.1003365
By:
- Zahnleiter, Diana;
- Uebe, Steffen;
- Ekici, Arif B.;
- Hoyer, Juliane;
- Wiesener, Antje;
- Wieczorek, Dagmar;
- Kunstmann, Erdmute;
- Reis, André;
- Doerr, Helmuth-Guenther;
- Rauch, Anita;
- Thiel, Christian T.
Publication type:
Article
Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?
Published in:
2019
By:
- Vasileiou, Georgia;
- Hoyer, Juliane;
- Thiel, Christian T.;
- Schaefer, Jan;
- Zapke, Maren;
- Krumbiegel, Mandy;
- Kraus, Cornelia;
- Zweier, Markus;
- Uebe, Steffen;
- Ekici, Arif B.;
- Schneider, Michael;
- Wiesener, Michael;
- Rauch, Anita;
- Faschingbauer, Florian;
- Reis, André;
- Zweier, Christiane;
- Popp, Bernt
Publication type:
journal article

Found: 19