Publications by authors named "Eva Rossier"

Claim this Profile
A
ANKRD11 variants: KBG syndrome and beyond.
Ilaria Parenti, Mark B Mallozzi, Irina Hüning, Cristina Gervasini, Alma Kuechler, Eva Rossier

Clin Genet· August 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
SIX2 gene haploinsufficiency leads to a recognizable phenotype with ptosis, frontonasal dysplasia, and conductive hearing loss.
Alina Henn, Harald Weng, Simon Novak, Günther Rettenberger, Andreas Gerhardinger, Eva Rossier

Clin Dysmorphol· April 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome.
Jasmin Beygo, Alma Küchler, Gabriele Gillessen-Kaesbach, Beate Albrecht, Jonas Eckle, Eva Rossier

Eur J Hum Genet· August 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
O
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Eva Rossier

PLoS Genet· March 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.
Cyril Mignot, Celina von Stülpnagel, Caroline Nava, Dorothée Ville, Damien Sanlaville, Eva Rossier

J Med Genet· August 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Menkes disease with discordant phenotype in female monozygotic twins.
Anna Lena Burgemeister, Birgit Zirn, Frank Oeffner, Stephen G Kaler, Gunther Lemm, Eva Rossier

Am J Med Genet A· November 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?
Julia K Ehret, Hartmut Engels, Kirsten Cremer, Jessica Becker, Johannes P Zimmermann, Eva Rossier

Mol Cytogenet· September 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome.
Wenke Seifert, Peter Meinecke, Gabriele Krüger, Eva Rossier, Wolfram Heinritz

BMC Med Genet· November 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein.
Peter Clayton, Björn Fischer, Anuska Mann, Sahar Mansour, Eva Rossier

Nucleus· July 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
RAD21 mutations cause a human cohesinopathy.
Matthew A Deardorff, Jonathan J Wilde, Melanie Albrecht, Emma Dickinson, Stephanie Tennstedt, Eva Rossier

Am J Hum Genet· June 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.
Juliane Hoyer, Arif B Ekici, Sabine Endele, Bernt Popp, Christiane Zweier, Eva Rossier

Am J Hum Genet· March 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Molecular cytogenetic characterization of two independent karyotypic anomalies in a patient with severe mental retardation and juvenile idiopathic arthritis.
Sabine Leybrand, Eva Rossier, Gotthold Barbi, David N Cooper, Hildegard Kehrer-Sawatzki

Genomic Med· July 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation.
Ute Grasshoff, Michael Bonin, Ina Goehring, Arif Ekici, Andreas Dufke, Eva Rossier

Eur J Hum Genet· May 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15).
Thomas Eggermann, Sabrina Spengler, Nadine Bachmann, Michael Baudis, Ulrike A Mau-Holzmann, Eva Rossier

Am J Med Genet A· June 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
Markus Zweier, Anne Gregor, Christiane Zweier, Hartmut Engels, Heinrich Sticht, Eva Rossier

Hum Mutat· June 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.
May-Britt Harmsen, Silvia Azzarello-Burri, M Mar García González, Gabriele Gillessen-Kaesbach, Peter Meinecke, Eva Rossier

Eur J Hum Genet· October 2009

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development.
Litu Zhang, Zeynep Tümer, Kjeld Møllgård, Gotthold Barbi, Eva Rossier

Eur J Hum Genet· August 2009

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers.
Sylwia Chocholska, Eva Rossier, Gotthold Barbi, Hildegard Kehrer-Sawatzki

Am J Med Genet A· March 2006

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Interstitial deletion del(10)(q25.2q25.3 approximately 26.11)--case report and review of the literature.
Hildegard Kehrer-Sawatzki, Eva Daumiller, Jutta Müller-Navia, Heidemarie Kendziorra, Eva Rossier

Prenat Diagn· October 2005

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies.
Birgitta Gläser, Eva Rossier, Gotthold Barbi, Loredana Delle Chiaie, Christian Blank

Am J Med Genet A· January 2003

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis