Stephanie Spranger
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Explore the profile of Stephanie Spranger including associated specialties, affiliations and a list of published articles.
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Articles
28
Citations
878
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Recent Articles
11.
Falb R, Muller A, Klein W, Grimmel M, Grasshoff U, Spranger S, et al.
J Med Genet
. 2021 Nov;
60(1):48-56.
PMID: 34740919
Background: Fetal akinesia (FA) results in variable clinical presentations and has been associated with more than 166 different disease loci. However, the underlying molecular cause remains unclear in many individuals....
12.
Rodriguez-Palmero A, Boerrigter M, Gomez-Andres D, Aldinger K, Marcos-Alcalde I, Popp B, et al.
Genet Med
. 2021 Feb;
23(5):888-899.
PMID: 33597769
Purpose: Postsynaptic density protein-95 (PSD-95), encoded by DLG4, regulates excitatory synaptic function in the brain. Here we present the clinical and genetic features of 53 patients (42 previously unpublished) with...
13.
Becker L, Dafsari H, Schallner J, Abdin D, Seifert M, Petit F, et al.
J Hum Genet
. 2020 Aug;
65(11):1003-1017.
PMID: 32788638
Mutations in the cytoplasmic dynein 1 heavy chain gene (DYNC1H1) have been identified in rare neuromuscular (NMD) and neurodevelopmental (NDD) disorders such as spinal muscular atrophy with lower extremity dominance...
14.
Altmuller F, Lissewski C, Bertola D, Flex E, Stark Z, Spranger S, et al.
Eur J Hum Genet
. 2017 Jun;
25(7):823-831.
PMID: 28594414
RASopathies comprise a group of disorders clinically characterized by short stature, heart defects, facial dysmorphism, and varying degrees of intellectual disability and cancer predisposition. They are caused by germline variants...
15.
Kortum F, Marquardt I, Alawi M, Korenke G, Spranger S, Meinecke P, et al.
Pediatrics
. 2016 Dec;
139(1).
PMID: 28031453
Acute liver failure (ALF) is a life-threatening condition in the absence of preexisting liver disease in children. The main clinical presentation comprises hepatic dysfunction, elevated liver biochemical values, and coagulopathy....
16.
Kouz K, Lissewski C, Spranger S, Mitter D, Riess A, Lopez-Gonzalez V, et al.
Genet Med
. 2016 Apr;
18(12):1226-1234.
PMID: 27101134
Purpose: Noonan syndrome (NS) is an autosomal-dominant disorder characterized by craniofacial dysmorphism, growth retardation, cardiac abnormalities, and learning difficulties. It belongs to the RASopathies, which are caused by germ-line mutations...
17.
Lange M, Kasper B, Bohring A, Rutsch F, Kluger G, Hoffjan S, et al.
Orphanet J Rare Dis
. 2015 Oct;
10:134.
PMID: 26471271
Background: Heterozygous loss of function mutations within the Filamin A gene in Xq28 are the most frequent cause of bilateral neuronal periventricular nodular heterotopia (PVNH). Most affected females are reported...
18.
Ahting U, Mayr J, Vanlander A, Hardy S, Santra S, Makowski C, et al.
Front Genet
. 2015 Apr;
6:123.
PMID: 25918518
Disorders of the mitochondrial energy metabolism are clinically and genetically heterogeneous. An increasingly recognized subgroup is caused by defective mitochondrial iron-sulfur (Fe-S) cluster biosynthesis, with defects in 13 genes being...
19.
Tzschach A, Grasshoff U, Beck-Woedl S, Dufke C, Bauer C, Kehrer M, et al.
Eur J Hum Genet
. 2015 Feb;
23(11):1513-8.
PMID: 25649377
X-linked intellectual disability (XLID) is a genetically heterogeneous disorder with more than 100 genes known to date. Most genes are responsible for a small proportion of patients only, which has...
20.
Schwemmle C, Rost I, Spranger S, Jungheim M, Ptok M
Int J Pediatr Otorhinolaryngol
. 2014 May;
78(7):1190-3.
PMID: 24814572
The investigation of patients with congenital anomalies and/or intellectual disability with modern genetic methods allows the recognition of an increasing number of cases with these chromosomal rearrangements. Here, we present...