Stefan Mundlos
Mundlos, Stefan 1958-
Mundlos, Stefan
VIAF ID: 315978511 (Personal)
Permalink: http://viaf.org/viaf/315978511
Preferred Forms
- 100 1 _ ‡a Mundlos, Stefan
- 100 1 _ ‡a Mundlos, Stefan
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- 100 1 _ ‡a Mundlos, Stefan
- 100 1 _ ‡a Mundlos, Stefan
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- 100 1 _ ‡a Mundlos, Stefan ‡d 1958-
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- 100 0 _ ‡a Stefan Mundlos
4xx's: Alternate Name Forms (3)
5xx's: Related Names (3)
- 510 2 _ ‡a Charité - Universitätsmedizin Berlin ‡4 affi ‡4 https://d-nb.info/standards/elementset/gnd#affiliation ‡e Affiliation
- 510 2 _ ‡a Deutsche Akademie der Naturforscher Leopoldina ‡4 affi ‡4 https://d-nb.info/standards/elementset/gnd#affiliation ‡e Affiliation
- 551 _ _ ‡a Marburg ‡4 ortg ‡4 https://d-nb.info/standards/elementset/gnd#placeOfBirth
Works
Title | Sources |
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4. Themenbereich genetische Diagnostik: Das humane Genom in der medizinischen Diagnostik | |
Cellular and molecular analysis of fracture healing in a neurofibromatosis type 1 conditional knockout mice model | |
ChIP-seq reveals mutation-specific pathomechanisms of HOXD13 missense mutations | |
Expression patterns of matrix genes during human skeletal development | |
Fünfter Gentechnologiebericht Sachstand und Perspektiven für Forschung und Anwendung | |
A GDF5 Point Mutation Strikes Twice - Causing BDA1 and SYNS2 | |
Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach | |
Impaired proteoglycan glycosylation, elevated TGF-[beta] signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica | |
Induktion der exokrinen Pankreasinsuffizienz bei der Ratte und deren Diagnostik mittels des Cholesteryloktanoat Atemtests | |
Kernaussagen und Handlungsempfehlungen zu Organoiden | |
Kurzfassung der Handlungsempfehlungen der IAG Gentechnologiebericht | |
Limb malformations : an atlas of genetic disorders of limb development | |
The mole genome reveals regulatory rearrangements associated with adaptive intersexuality | |
Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis | |
Mutation analysis of BRCA1 and BRCA2 genes in Iranian high risk breast cancer families | |
Mutation in precludes transcription factor cooperativity and causes congenital hypoventilation in humans and mice | |
The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome | |
Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein | |
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2 | |
Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN | |
Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction. | |
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. | |
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. | |
Mutations in the RUNX2 gene in patients with cleidocranial dysplasia | |
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux | |
Mutations in WNT1 cause different forms of bone fragility | |
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome | |
Negative regulation of Wnt signaling mediated by CK1-phosphorylated Dishevelled via Ror2. | |
Neurofibromin inactivation impairs osteocyte development in Nf1Prx1 and Nf1Col1 mouse models | |
Neurofibromin (Nf1) is required for skeletal muscle development | |
NOA1 is an essential GTPase required for mitochondrial protein synthesis | |
Noncoding copy-number variations are associated with congenital limb malformation. | |
Normal trabecular vertebral bone is formed via rapid transformation of mineralized spicules: A high-resolution 3D ex-vivo murine study | |
Nosology and classification of genetic skeletal disorders: 2019 revision | |
Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms. | |
Odd-skipped related genes regulate differentiation of embryonic limb mesenchyme and bone marrow mesenchymal stromal cells. | |
One gene, many facets: multiple immune pathway dysregulation in SOCS1 haploinsufficiency | |
The organization of the osteocyte network mirrors the extracellular matrix orientation in bone | |
Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family | |
The other trinucleotide repeat: polyalanine expansion disorders | |
P4: Ulnar-mammary syndrome with mental retardation caused by a novel 0.8 Mb deletion encompassing the TBX3 gene | |
Pathogenic Variants in GPC4 Cause Keipert Syndrome | |
PDE3A mutations cause autosomal dominant hypertension with brachydactyly | |
PEDIA: prioritization of exome data by image analysis | |
Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4 | |
Plant nitric oxide synthase: a never-ending story? | |
Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model | |
Polymer physics predicts the effects of structural variants on chromatin architecture. | |
Preformed chromatin topology assists transcriptional robustness of Shh during limb development | |
Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2. | |
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations | |
The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface | |
Promiscuous and depolarization-induced immediate-early response genes are induced by mechanical strain of osteoblasts | |
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes | |
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome | |
Receptor tyrosine kinase-like orphan receptor 2 (ROR2) and Indian hedgehog regulate digit outgrowth mediated by the phalanx-forming region | |
The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway | |
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa | |
Redundant function of the heparan sulfate 6-O-endosulfatases Sulf1 and Sulf2 during skeletal development | |
Regulation of cell polarity in the cartilage growth plate and perichondrium of metacarpal elements by HOXD13 and WNT5A | |
Regulatory Landscaping: How Enhancer-Promoter Communication Is Sculpted in 3D | |
Remodelling the genetics of spinocerebellar entities. New genes, phenotypes, and transmission modes lead to new concepts | |
Response to Peron et al. | |
RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: a potential factor in the pathogenesis of the Marfan syndrome | |
Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation | |
The role of 3D chromatin domains in gene regulation: a multi-facetted view on genome organization | |
role of chromatin architecture in regulating Shh gene during mouse limb development | |
Role of Runx genes in chondrocyte differentiation | |
Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome | |
Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome | |
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3 | |
Serial genomic inversions induce tissue-specific architectural stripes, gene misexpression and congenital malformations | |
Severe cleidocranial dysplasia can mimic hypophosphatasia | |
Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. | |
Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1. | |
The single-cell transcriptional landscape of mammalian organogenesis | |
Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options. | |
Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient | |
SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy | |
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome | |
Split hand/foot malformation associated with 20p12.1 deletion: A case report | |
Spondyloepiphyseal dysplasia Omani type: a new recessive type of SED with progressive spinal involvement | |
Strategies to improve the performance of rare variant association studies by optimizing the selection of controls | |
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa | |
Structural variations, the regulatory landscape of the genome and their alteration in human disease | |
The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements | |
Systematic Analysis of Posterior HOXA/HOXD Function in Mesenchymal Cells | |
Trinukleotid-Expansion des Gens für zelluläre Glutathion-Peroxidase bei Patienten mit sporadischer amyotropher Lateralsklerose | |
An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation | |
Unveil CDH1 regulatory network, beyond coding mutations in HDGC |