Zeynep Tumer
Zeynep Tumer
Clinical Professor, Applied Human Genetics, Kennedy Center
Bekræftet mail på regionh.dk
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A human phenome-interactome network of protein complexes implicated in genetic disorders
K Lage, EO Karlberg, ZM Størling, PI Olason, AG Pedersen, O Rigina, ...
Nature biotechnology 25 (3), 309-316, 2007
10022007
Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein
J Chelly, Z Tümer, T Tønnesen, A Petterson, Y Ishikawa-Brush, ...
Nature genetics 3 (1), 14-19, 1993
7851993
Menkes disease
Z Tümer, LB Møller
European Journal of Human Genetics 18 (5), 511-518, 2010
2702010
Diagnosis and management of Silver–Russell syndrome: first international consensus statement
EL Wakeling, F Brioude, O Lokulo-Sodipe, SM O'Connell, J Salem, J Bliek, ...
Nature Reviews Endocrinology 13 (2), 105, 2017
2282017
Axenfeld–Rieger syndrome and spectrum of PITX2 and FOXC1 mutations
Z Tümer, D Bach-Holm
European Journal of Human Genetics 17 (12), 1527-1539, 2009
2262009
Expert consensus document: clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
F Brioude, JM Kalish, A Mussa, AC Foster, J Bliek, GB Ferrero, ...
Nature Reviews Endocrinology 14 (4), 229, 2018
185*2018
Early treatment of Menkes disease with parenteral Cooper‐Histidine: Long‐term follow‐up of four treated patients
J Christodoulou, DM Danks, B Sarkar, KE Baerlocher, R Casey, N Horn, ...
American journal of medical genetics 76 (2), 154-164, 1998
1631998
Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly
RS Møller, S Kübart, M Hoeltzenbein, B Heye, I Vogel, CP Hansen, ...
The American Journal of Human Genetics 82 (5), 1165-1170, 2008
1622008
High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease
F Erdogan, LA Larsen, L Zhang, Z Tümer, N Tommerup, W Chen, ...
Journal of medical genetics 45 (11), 704-709, 2008
1492008
Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome
LB Møller, Z Tümer, C Lund, C Petersen, T Cole, R Hanusch, J Seidel, ...
The American Journal of Human Genetics 66 (4), 1211-1220, 2000
1272000
Genetic anticipation in Behçet’s syndrome
I Fresko, M Soy, V Hamuryudan, S Yurdakul, Ş Yavuz, Z Tümer, H Yazici
Annals of the rheumatic diseases 57 (1), 45-48, 1998
1151998
An Overview and Update of ATP7A Mutations Leading to Menkes Disease and Occipital Horn Syndrome
Z Tümer
Human mutation 34 (3), 417-429, 2013
1122013
Identification of point mutations in 41 unrelated patients affected with Menkes disease.
Z Tümer, C Lund, J Tolshave, B Vural, T Tønnesen, N Horn
American journal of human genetics 60 (1), 63, 1997
1111997
Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci
T Eggermann, GP de Nanclares, ER Maher, IK Temple, Z Tümer, D Monk, ...
Clinical epigenetics 7 (1), 1-18, 2015
1082015
Transient p53 suppression increases reprogramming of human fibroblasts without affecting apoptosis and DNA damage
MA Rasmussen, B Holst, Z Tümer, MG Johnsen, S Zhou, TC Stummann, ...
Stem cell reports 3 (3), 404-413, 2014
1072014
Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2
LP Jakobsen, R Ullmann, SB Christensen, KE Jensen, K Mølsted, ...
Journal of medical genetics 44 (6), 381-386, 2007
1052007
Menkes disease: recent advances and new aspects.
Z Tümer, N Horn
Journal of medical genetics 34 (4), 265, 1997
1051997
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
AD Kline, JF Moss, A Selicorni, AM Bisgaard, MA Deardorff, PM Gillett, ...
Nature Reviews Genetics 19 (10), 649-666, 2018
1002018
Early copper-histidine treatment for Menkes disease
Z Tümer, N Horn, T Tønnesen, J Christodoulou, JTR Clarke, B Sarkar
Nature genetics 12 (1), 11-13, 1996
961996
Characterization of the exon structure of the Menkes disease gene using vectorette PCR
Z Tümer, B Vural, T Tønnesen, J Chelly, AP Monaco, N Horn
Genomics 26 (3), 437-442, 1995
961995
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Artikler 1–20