[HTML][HTML] A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patients

K Rall, G Barresi, M Walter, S Poths, K Haebig… - Orphanet journal of rare …, 2011 - Springer
Abstract Background The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is present in
at least 1 out of 4,500 female live births and is the second most common cause for primary …

Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases

N Weisschuh, P Mazzola, T Zuleger… - Journal of Medical …, 2024 - jmg.bmj.com
Purpose Genome sequencing (GS) is expected to reduce the diagnostic gap in rare disease
genetics. We aimed to evaluate a scalable framework for genome-based analyses 'beyond …

A single center experience of prenatal parent‐fetus trio exome sequencing for pregnancies with congenital anomalies

A Dufke, M Hoopmann, S Waldmüller… - Prenatal …, 2022 - Wiley Online Library
Objectives To examine the diagnostic yield of trio exome sequencing in fetuses with multiple
structural defects with no pathogenic findings in cytogenetic and microarray analyses …

Discordance between ultrasound and cell free DNA screening for monosomy X

KO Kagan, M Hoopmann, S Singer… - Archives of gynecology …, 2016 - Springer
Abstract Objective Cell free DNA (cfDNA) testing has evolved as an important tool in
prenatal screening for trisomy 21. It can also be used in screening for monosomy X. We …

Defining the phenotypical spectrum associated with variants in TUBB2A

S Brock, T Vanderhasselt, S Vermaning… - Journal of medical …, 2021 - jmg.bmj.com
Background Variants in genes belonging to the tubulin superfamily account for a
heterogeneous spectrum of brain malformations referred to as tubulinopathies. Variants in …

[HTML][HTML] In vivo analysis of cone survival in mice

SC Beck, K Schaeferhoff, S Michalakis… - … & visual science, 2010 - arvojournals.org
Purpose.: To identify individual cone photoreceptors in a transgenic mouse line in vivo
based on selective expression of green fluorescent protein (GFP) using cSLO (confocal …

Periphilin is strongly expressed in the murine nervous system and is indispensable for murine development

AS Soehn, TT Pham, K Schaeferhoff, T Floss… - genesis, 2009 - Wiley Online Library
Periphilin is involved in multiple processes in vivo. To explore its physiological role from an
organismic perspective, we generated mice with a gene trap insertion in the periphilin‐1 …

Structural and Functional Phenotyping in the Cone-Specific Photoreceptor Function Loss 1 (cpfl1) Mouse Mutant – A Model of Cone Dystrophies

MD Fischer, N Tanimoto, SC Beck, G Huber… - Retinal Degenerative …, 2010 - Springer
Purpose: We performed a comprehensive in vivo assessment of retinal morphology and
function in cpfl1 (cone photoreceptor function loss 1) mice to better define the disease …

[HTML][HTML] Molecular and cell biological effects of 3, 5, 3′-triiodothyronine on progenitor cells of the enteric nervous system in vitro

R Mohr, P Neckel, Y Zhang, S Stachon, K Nothelfer… - Stem cell …, 2013 - Elsevier
Introduction Thyroid hormones play important roles in the development of neural cells in the
central nervous system. Even minor changes to normal thyroid hormone levels affect …

Interstitial duplication of chromosome region 1q25. 1q25. 3: report of a patient with mild cognitive deficits, tall stature and facial dysmorphisms

M Kehrer, T Liehr, T Benkert, S Singer… - American Journal of …, 2015 - Wiley Online Library
Isolated interstitial duplications of chromosome band 1q25 are apparently very rare; no
patients with detailed molecular and clinical characterization of duplications restricted to this …