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Z Tumer

Explore the profile of Z Tumer including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 64
Citations 855
Followers 0
Related Specialties
Genetics
Biology
General Medicine
Top 10 Co-Authors
N Tommerup
N Horn
T Tonnesen
K Brondum-Nielsen
L A Larsen
R Ullmann
R S Moller
A N Silahtaroglu
A Silahtaroglu
J Chelly
Published In
Clin Genet
J Med Genet
Am J Med Genet A
Hum Genet
J Inherit Metab Dis
Affiliations
Soon will be listed here.
Recent Articles
1.
Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature
Schonewolf-Greulich B, Bisgaard A, Moller R, Duno M, Brondum-Nielsen K, Kaur S, et al.
Clin Genet . 2017 Oct; 95(2):221-230. PMID: 29023665
The differential diagnostics in Rett syndrome has evolved with the development of next generation sequencing-based techniques and many patients have been diagnosed with other syndromes or variants in newly described...
2.
A 37-year-old Menkes disease patient-Residual ATP7A activity and early copper administration as key factors in beneficial treatment
Tumer Z, Petris M, Zhu S, Mercer J, Bukrinski J, Bilz S, et al.
Clin Genet . 2017 Jun; 92(5):548-553. PMID: 28657131
Menkes disease (MD) is a lethal disorder characterized by severe neurological symptoms and connective tissue abnormalities; and results from malfunctioning of cuproenzymes, which cannot receive copper due to a defective...
3.
A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature
Boyle M, Jespersgaard C, Nazaryan L, Bisgaard A, Tumer Z
Clin Genet . 2016 Nov; 91(4):647-649. PMID: 27882533
In a patient with CdLS (IV.16) we identifed a novel single basepair deletion (c.704delG) in RAD21, which encodes a cohesin pathway protein. The variant is predicted to result in a...
4.
Recent Advances in Imprinting Disorders
Soellner L, Begemann M, Mackay D, Gronskov K, Tumer Z, Maher E, et al.
Clin Genet . 2016 Jul; 91(1):3-13. PMID: 27363536
Imprinting disorders (ImpDis) are a group of currently 12 congenital diseases with common underlying (epi)genetic etiologies and overlapping clinical features affecting growth, development and metabolism. In the last years it...
5.
The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome
Schonewolf-Greulich B, Tejada M, Stephens K, Hadzsiev K, Gauthier J, Brondum-Nielsen K, et al.
Clin Genet . 2016 Mar; 89(6):733-8. PMID: 26936630
Missense MECP2 variants can have various phenotypic effects ranging from a normal phenotype to typical Rett syndrome (RTT). In females, the phenotype can also be influenced by the X-inactivation pattern....
6.
Response to Dylan Mordaunt and Alisha McLauchlan
Boyle M, Tumer Z
Clin Genet . 2015 Mar; 88(1):99-100. PMID: 25807900
No abstract available.
7.
Cornelia de Lange syndrome
Boyle M, Jespersgaard C, Brondum-Nielsen K, Bisgaard A, Tumer Z
Clin Genet . 2014 Sep; 88(1):1-12. PMID: 25209348
Cornelia de Lange syndrome (CdLS; MIM #122470, 300590, 610759, 614701, 300882) is a rare and clinically variable disorder that affects multiple organs. It is characterized by intellectual disability (mild to...
8.
Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies
Zink A, Wohlleber E, Engels H, Rodningen O, Ravn K, Heilmann S, et al.
Mol Syndromol . 2014 Apr; 5(2):65-75. PMID: 24715853
Fragile X syndrome (FXS) is one of the most common causes of intellectual disability/developmental delay (ID/DD), especially in males. It is caused most often by CGG trinucleotide repeat expansions, and...
9.
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome
Moller R, Jensen L, Maas S, Filmus J, Capurro M, Hansen C, et al.
Hum Genet . 2013 Dec; 133(5):625-38. PMID: 24326587
Submicroscopic duplications along the long arm of the X-chromosome with known phenotypic consequences are relatively rare events. The clinical features resulting from such duplications are various, though they often include...
10.
A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia
Roos L, Fang M, Dali C, Jensen H, Christoffersen N, Wu B, et al.
Clin Genet . 2013 Sep; 86(3):276-81. PMID: 24024553
Anomalies of eye development can lead to the rare eye malformations microphthalmia and anophthalmia (small or absent ocular globes), which are genetically very heterogeneous. Several genes have been associated with...