Session

17.03.2022     15:00–15:45

Titel:
Poster Session
MonoG
Art:
Poster
Raum:

17.03.2022
15:00–15:45

Titel:
Poster Session
MonoG
Art:
Poster
Raum:

15:00–15:02
P-MonoG-145 Minigene splice assay and Luciferase assay for functional analysis of a potential splice site variant
Angela Borst (Würzburg/DE)
Redezeit: 2 min


15:02–15:04
P-MonoG-147 Functional characterization of a JAG1 promoter variant in a patient with clinically observed Alagille Syndrome
Amelie Stalke (Hannover/DE), Nicole Buhl (Hannover/DE)
Redezeit: 2 min


15:04–15:06
P-MonoG-149 Functional analyses of pathogenic variants in SNRPE associated with the rare hair loss disorder hypotrichosis simplex
Nicole Cesarato (Bonn/DE)
Redezeit: 2 min


15:06–15:08
P-MonoG-151 Monoallelic and biallelic variants in RELN underlie a graded series of neurodevelopmental disorder
Philine Dinkel (Dresden/DE)
Redezeit: 2 min


15:08–15:10
P-MonoG-153 CDKL5 Deficiency Disorder develops in female mice during vulnerable time windows
Verena Engelhardt (Mainz/DE)
Redezeit: 2 min


15:10–15:12
P-MonoG-155 Deciphering MALSU1 in a consanguineous family with mitochondrial cardiomyopathy
Laura Holthöfer (Mainz/DE), Mareike Selig (Mainz/DE)
Redezeit: 2 min


15:12–15:14
P-MonoG-157 Transcriptomes of MPO-deficient psoriasis patients reveals expansion of CD4+ cytotoxic T cells and an involvement of the complement system 
Ulrike Hüffmeier (Erlangen/DE)
Redezeit: 2 min


15:14–15:16
P-MonoG-159 Diagnosing rare disorders in low and middle income countries (LMICs) using next-generation sequencing and automated phenotyping
Alexej Knaus (Bonn/DE)
Redezeit: 2 min


15:16–15:18
P-MonoG-161 Serological protein profiles in systemic auto-inflammatory diseases
Julie Krainer (Wien/AT)
Redezeit: 2 min


15:18–15:20
P-MonoG-165 Aberrant cell-death response switch in a novel syndrome characterized by intrauterine multisystem anomalies and early demise
Ivana Lessel (Hamburg/DE)
Redezeit: 2 min


15:20–15:22
P-MonoG-167 Novel variants broaden the mutational spectrum of Hereditary Sensory and Autonomic Neuropathy disorders
Annette Lischka (Aachen/DE)
Redezeit: 2 min


15:22–15:24
P-MonoG-169 VPS13A disease shows variable chorein expression due to distinctive VPS13A mutations as observed in the largest cohort of 106 international patients
Gabriel Miltenberger-Miltenyi (Munich/DE)
Redezeit: 2 min


15:24–15:26
P-MonoG-171 Detection of a Structural Variant with Short Read Whole Genome Sequencing in a Young Woman with Recessive Limb Girdle Muscular Dystrophy
Natalie Pluta (Würzburg/DE), Ann-Kathrin Zaum (Würzburg/DE)
Redezeit: 2 min


15:26–15:28
P-MonoG-173 Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use
Christian Schlein (Hamburg/DE)
Redezeit: 2 min


15:28–15:30
P-MonoG-175 Genetic Polymorphisms and their impact on the Age at Onset in Spinocerebellar Ataxia Type 3
Thorsten Schmidt (Tübingen/DE)
Redezeit: 2 min


15:30–15:32
P-MonoG-177 Homozygous variant in SERPING1 causes hereditary angioedema in a consanguineous Brazilian family
Luana Sella Motta Maia (Basel Stadt/CH)
Redezeit: 2 min


15:32–15:34
P-MonoG-179 KIF12 variants and disturbed hepatocyte polarity in children with a phenotypic spectrum of cholestatic liver disease
Amelie Stalke (Hannover/DE)
Redezeit: 2 min


15:34–15:36
P-MonoG-181 A homozygous STING1 gene variant causes STING-associated vasculopathy with onset in infancy (SAVI)
Rensheng Wan (Hannover/DE)
Redezeit: 2 min


15:36–15:38
P-MonoG-183 Comprehensive characterization of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster in patients with Blue Cone Monochromacy
Bernd Wissinger (Tübingen/DE)
Redezeit: 2 min