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von Hippel-Lindau development in children and adolescents.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2381, doi. 10.1002/ajmg.a.38324
By:
- Launbjerg, Karoline;
- Bache, Iben;
- Galanakis, Michael;
- Bisgaard, Marie Luise;
- Binderup, Marie Louise M.
Publication type:
Article
17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2934, doi. 10.1002/ajmg.a.37848
By:
- Rasmussen, Maria;
- Vestergaard, Else Marie;
- Graakjaer, Jesper;
- Petkov, Yanko;
- Bache, Iben;
- Fagerberg, Christina;
- Kibæk, Maria;
- Svaneby, Dea;
- Petersen, Olav Bjørn;
- Brasch‐Andersen, Charlotte;
- Sunde, Lone
Publication type:
Article
Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1315, doi. 10.1038/ejhg.2012.92
By:
- Halgren, Christina;
- Bache, Iben;
- Bak, Mads;
- Myatt, Mikkel Wanting;
- Anderson, Claire Marie;
- Brøndum-Nielsen, Karen;
- Tommerup, Niels
Publication type:
Article
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 3, p. 312, doi. 10.1038/sj.ejhg.5201985
By:
- Gilling, Mette;
- Lauritsen, Marlene Briciet;
- Møller, Morten;
- Henriksen, Karen Friis;
- Vicente, Astrid;
- Oliveira, Guiomar;
- Cintin, Christina;
- Eiberg, Hans;
- Andersen, Paal Skyt;
- Mors, Ole;
- Rosenberg, Thomas;
- Brøndum-Nielsen, Karen;
- Cotterill, Rodney M. J.;
- Lundsteen, Claes;
- Ropers, Hans-Hilger;
- Ullmann, Reinhard;
- Bache, Iben;
- Tümer, Zeynep;
- Tommerup, Niels
Publication type:
Article
Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome.
Published in:
European Journal of Human Genetics, 2007, v. 15, n. 6, p. 711, doi. 10.1038/sj.ejhg.5201824
By:
- Belloso, Jose M.;
- Bache, Iben;
- Guitart, Miriam;
- Caballin, Maria Rosa;
- Halgren, Christina;
- Kirchhoff, Maria;
- Ropers, Hans-Hilger;
- Tommerup, Niels;
- Tümer, Zeynep
Publication type:
Article
Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases.
Published in:
European Journal of Human Genetics, 2006, v. 14, n. 4, p. 410, doi. 10.1038/sj.ejhg.5201592
By:
- Bache, Iben;
- Hjorth, Mads;
- Bugge, Merete;
- Holstebroe, Søren;
- Hilden, Jørgen;
- Schmidt, Lone;
- Brondum-Nielsen, Karen;
- Bruun-Petersen, Gert;
- Jensen, Peter K. A.;
- Lundsteen, Claes;
- Niebuhr, Erik;
- Rasmussen, Kirsten;
- Tommerup, Niels
Publication type:
Article
An excess of chromosome 1 breakpoints in male infertility.
Published in:
European Journal of Human Genetics, 2004, v. 12, n. 12, p. 993, doi. 10.1038/sj.ejhg.5201263
By:
- Bache, Iben;
- Assche, Elvire Van;
- Cingoz, Sultan;
- Bugge, Merete;
- Tümer, Zeynep;
- Hjorth, Mads;
- Lundsteen, Claes;
- Lespinasse, James;
- Winther, Kirsten;
- Niebuhr, Anita;
- Kalscheuer, Vera;
- Liebaers, Inge;
- Bonduelle, Maryse;
- Tournaye, Herman;
- Ayuso, Carmen;
- Barbi, Gotthold;
- Blennow, Elisabeth;
- Bourrouillou, Georges;
- Brondum-Nielsen, Karen;
- Bruun-Petersen, Gert
Publication type:
Article
Previous Maternal Abortion, Longer Gestation, and Younger Maternal Age Decrease the Risk of Type 1 Diabetes Among Male Offspring.
Published in:
Diabetes Care, 1999, v. 22, n. 7, p. 1063, doi. 10.2337/diacare.22.7.1063
By:
- Bache, Iben;
- Bock, Troels;
- Volund, Aage;
- Buschard, Karsten
Publication type:
Article
Simulation based virtual learning environment in medical genetics counseling: an example of bridging the gap between theory and practice in medical education.
Published in:
BMC Medical Education, 2016, v. 16, p. 1, doi. 10.1186/s12909-016-0620-6
By:
- Makransky, Guido;
- Bonde, Mads T.;
- Wulff, Julie S. G.;
- Wandall, Jakob;
- Hood, Michelle;
- Creed, Peter A.;
- Bache, Iben;
- Silahtaroglu, Asli;
- Nørremølle5, Anne
Publication type:
Article
A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome.
Published in:
2020
By:
- Bache, Iben;
- Wadt, Karin;
- Mehrjouy, Mana M.;
- Rossing, Maria;
- Østrup, Olga;
- Byrjalsen, Anna;
- Tommerup, Niels;
- Metzner, Marlen;
- Vyas, Paresh;
- Schmiegelow, Kjeld;
- Lausen, Birgitte;
- Andersen, Mette K.
Publication type:
Letter
Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development.
Published in:
Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0220-5
By:
- Jespersgaard, Cathrine;
- Damgaard, Ida N.;
- Cornelius, Nanna;
- Bache, Iben;
- Knabe, Niels;
- Miranda, Maria J.;
- Tümer, Zeynep
Publication type:
Article
Population‐based study of cancer among carriers of a constitutional structural chromosomal rearrangement.
Published in:
Genes, Chromosomes & Cancer, 2006, v. 45, n. 3, p. 231, doi. 10.1002/gcc.20285
By:
- Iben Bache;
- Henrik Hasle;
- Niels Tommerup;
- Jørgen H. Olsen
Publication type:
Article
The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.
Published in:
Biomedicines, 2020, v. 8, n. 11, p. 456, doi. 10.3390/biomedicines8110456
By:
- Döring, Jan Henje;
- Saffari, Afshin;
- Bast, Thomas;
- Brockmann, Knut;
- Ehrhardt, Laura;
- Fazeli, Walid;
- Janzarik, Wibke G.;
- Kluger, Gerhard;
- Muhle, Hiltrud;
- Møller, Rikke S.;
- Platzer, Konrad;
- Santos, Joana Larupa;
- Bache, Iben;
- Bertsche, Astrid;
- Bonfert, Michaela;
- Borggräfe, Ingo;
- Broser, Philip J.;
- Datta, Alexandre N.;
- Hammer, Trine Bjørg;
- Hartmann, Hans
Publication type:
Article
Analysis of t(9;17)(q33.2;q25.3) chromosomal breakpoint regions and genetic association reveals novel candidate genes for bipolar disorder.
Published in:
Bipolar Disorders, 2015, v. 17, n. 2, p. 205, doi. 10.1111/bdi.12239
By:
- Rajkumar, Anto P;
- Christensen, Jane H;
- Mattheisen, Manuel;
- Jacobsen, Iben;
- Bache, Iben;
- Pallesen, Jonatan;
- Grove, Jakob;
- Qvist, Per;
- McQuillin, Andrew;
- Gurling, Hugh M;
- Tümer, Zeynep;
- Mors, Ole;
- Børglum, Anders D
Publication type:
Article
Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 203, doi. 10.1002/ajmg.a.33766
By:
- Cingöz, Sultan;
- Bache, Iben;
- Bjerglund, Lise;
- Ropers, Hans-Hilger;
- Tommerup, Niels;
- Jensen, Hanne;
- Brøndum-Nielsen, Karen;
- Tümer, Zeynep
Publication type:
Article
Trisomy 8 mosaicism in the placenta: A Danish cohort study of 37 cases and a literature review.
Published in:
Prenatal Diagnosis, 2021, v. 41, n. 4, p. 409, doi. 10.1002/pd.5875
By:
- Thomsen, Simon Horsholt;
- Lund, Ida Charlotte Bay;
- Fagerberg, Christina;
- Bache, Iben;
- Becher, Naja;
- Vogel, Ida
Publication type:
Article
Multigenic truncation of the semaphorin–plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome.
Published in:
Human Mutation, 2019, v. 40, n. 8, p. 1057, doi. 10.1002/humu.23775
By:
- Nazaryan‐Petersen, Lusine;
- Oliveira, Inês R.;
- Mehrjouy, Mana M.;
- Mendez, Juan M. M.;
- Bak, Mads;
- Bugge, Merete;
- Kalscheuer, Vera M.;
- Bache, Iben;
- Hancks, Dustin C.;
- Tommerup, Niels
Publication type:
Article
A Cohort of Balanced Reciprocal Translocations Associated with Dyslexia: Identification of Two Putative Candidate Genes at DYX1.
Published in:
Behavior Genetics, 2011, v. 41, n. 1, p. 125, doi. 10.1007/s10519-010-9389-2
By:
- Buonincontri, Roberta;
- Bache, Iben;
- Silahtaroglu, Asli;
- Elbro, Carsten;
- Nielsen, Anne-Mette Veber;
- Ullmann, Reinhard;
- Arkesteijn, Ger;
- Tommerup, Niels
Publication type:
Article

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