Zeynep Tumer
Zeynep Tumer
Clinical Professor, Applied Human Genetics, Kennedy Center
Verified email at regionh.dk
Title
Cited by
Cited by
Year
A human phenome-interactome network of protein complexes implicated in genetic disorders
K Lage, EO Karlberg, ZM Stĝrling, PI Olason, AG Pedersen, O Rigina, ...
Nature biotechnology 25 (3), 309-316, 2007
9572007
Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein
J Chelly, Z Tümer, T Tĝnnesen, A Petterson, Y Ishikawa-Brush, ...
Nature genetics 3 (1), 14-19, 1993
7571993
Menkes disease
Z Tümer, LB Mĝller
European Journal of Human Genetics 18 (5), 511-518, 2010
2402010
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
2002009
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
1611998
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
1542017
Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly
RS Mĝller, S Kübart, M Hoeltzenbein, B Heye, I Vogel, CP Hansen, ...
The American Journal of Human Genetics 82 (5), 1165-1170, 2008
1462008
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
1442008
The effect of rubber versus concrete passageways in cubicle housing on claw health and reproduction of pluriparous dairy cows
LA Boyle, JF Mee, PJ Kiernan
Applied animal behaviour science 106 (1-3), 1-12, 2007
1402007
Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome
LB Mĝller, Z Tümer, C Lund, C Petersen, T Cole, R Hanusch, J Seidel, ...
The American Journal of Human Genetics 66 (4), 1211-1220, 2000
1292000
Identification of point mutations in 41 unrelated patients affected with Menkes disease.
Z Tümer, C Lund, J Tolshave, B Vural, T Tĝnnesen, N Horn
American journal of human genetics 60 (1), 63, 1997
1091997
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
108*2018
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
1071998
Menkes disease: recent advances and new aspects.
Z Tümer, N Horn
Journal of medical genetics 34 (4), 265, 1997
1041997
Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2
LP Jakobsen, R Ullmann, SB Christensen, KE Jensen, K Mĝlsted, ...
Journal of medical genetics 44 (6), 381-386, 2007
972007
Early copper-histidine treatment for Menkes disease
Z Tümer, N Horn, T Tĝnnesen, 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 Tĝnnesen, J Chelly, AP Monaco, N Horn
Genomics 26 (3), 437-442, 1995
951995
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), 123, 2015
932015
An Overview and Update of ATP7A Mutations Leading to Menkes Disease and Occipital Horn Syndrome
Z Tümer
Human mutation 34 (3), 417-429, 2013
872013
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
852014
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