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European Journal of Human Genetics (8)
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Showing 1–12 of 12 results

Advanced filters: Author: Iben Bache Clear advanced filters

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

De novo mutations in MSL3 cause an X-linked syndrome affecting both males and females. MSL3 mutations reduce H4K16ac levels and lead to misregulation of cellular pathways involved in morphogenesis, cellular shape, and cell migration.

M. Felicia Basilicata
Ange-Line Bruel
Asifa Akhtar
Research17 Sept 2018
Nature Genetics

Volume: 50, P: 1442-1451
Haploinsufficiency of ARHGAP42 is associated with hypertension

Amanda S. Fjorder
Malene B. Rasmussen
Iben Bache
Research21 Mar 2019
European Journal of Human Genetics

Volume: 27, P: 1296-1303
Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases

Iben Bache
Mads Hjorth
Niels Tommerup
Research22 Feb 2006
European Journal of Human Genetics

Volume: 14, P: 410-417
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia

Mette Gilling
Marlene Briciet Lauritsen
Niels Tommerup
Research09 Jan 2008
European Journal of Human Genetics

Volume: 16, P: 312-319
An excess of chromosome 1 breakpoints in male infertility

Iben Bache
Elvire Van Assche
Niels Tommerup
Research15 Sept 2004
European Journal of Human Genetics

Volume: 12, P: 993-1000
Genetic counseling in adult carriers of a balanced chromosomal rearrangement ascertained in childhood: Experiences from a nationwide reexamination of translocation carriers

Iben Bache
Karen Brondum-Nielsen
Niels Tommerup
Research01 Mar 2007
Genetics in Medicine

Volume: 9, P: 185-187
Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity

Christina Halgren
Iben Bache
Niels Tommerup
ResearchOpen Access23 May 2012
European Journal of Human Genetics

Volume: 20, P: 1315-1319
Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome

Jose M Belloso
Iben Bache
Zeynep Tümer
Research28 Mar 2007
European Journal of Human Genetics

Volume: 15, P: 711-713
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

M N Loviglio
M Leleu
A Reymond
ResearchOpen Access31 May 2016
Molecular Psychiatry

Volume: 22, P: 836-849
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

Gabrielle Rudolf
Gaetan Lesca
Pierre Szepetowski
Research29 Jun 2016
European Journal of Human Genetics

Volume: 24, P: 1761-1770
Rare novel variants in the ZIC3 gene cause X-linked heterotaxy

Aimee D C Paulussen
Anja Steyls
Arthur van den Wijngaard
Research13 Jul 2016
European Journal of Human Genetics

Volume: 24, P: 1783-1791
A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome

Iben Bache
Karin Wadt
Mette K. Andersen
CorrespondenceOpen Access03 Mar 2020
Blood Cancer Journal

Volume: 10, P: 1-4