Stefan Mundlos
Mundlos, Stefan 1958-
Mundlos, Stefan
![Sudoc [ABES], France](/viaf/images/flags/SUDOC.png "Sudoc [ABES], France")
VIAF ID: 315978511 (Personal)
Permalink: http://viaf.org/viaf/315978511
Preferred Forms
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100 1 _ ‡a Mundlos, Stefan
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100 1 _
‡a
Mundlos, Stefan
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100 1 _
‡a
Mundlos, Stefan
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100 1 _ ‡a Mundlos, Stefan
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100 1 _
‡a
Mundlos, Stefan
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100 1 _
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Mundlos, Stefan
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100 1 _ ‡a Mundlos, Stefan ‡d (1958- )
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100 1 _ ‡a Mundlos, Stefan ‡d (1958- ).
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100 1 _
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Mundlos, Stefan
‡d
1958-
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200 _ 1 ‡a Mundlos, ‡b Stefan
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100 0 _
‡a
Stefan Mundlos
4xx's: Alternate Name Forms (3)
5xx's: Related Names (3)
- 510 2 _
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Charité - Universitätsmedizin Berlin
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affi
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https://d-nb.info/standards/elementset/gnd#affiliation
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Affiliation
- 510 2 _
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Deutsche Akademie der Naturforscher Leopoldina
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affi
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https://d-nb.info/standards/elementset/gnd#affiliation
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Affiliation
- 551 _ _
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Marburg
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ortg
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https://d-nb.info/standards/elementset/gnd#placeOfBirth
Works
| Title | Sources |
|---|---|
| 4. Themenbereich genetische Diagnostik: Das humane Genom in der medizinischen Diagnostik |
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| Cellular and molecular analysis of fracture healing in a neurofibromatosis type 1 conditional knockout mice model |
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| ChIP-seq reveals mutation-specific pathomechanisms of HOXD13 missense mutations |
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| Expression patterns of matrix genes during human skeletal development |
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| Fünfter Gentechnologiebericht Sachstand und Perspektiven für Forschung und Anwendung |
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| A GDF5 Point Mutation Strikes Twice - Causing BDA1 and SYNS2 |
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| Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach |
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| Impaired proteoglycan glycosylation, elevated TGF-[beta] signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica |
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| Induktion der exokrinen Pankreasinsuffizienz bei der Ratte und deren Diagnostik mittels des Cholesteryloktanoat Atemtests |
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| Kernaussagen und Handlungsempfehlungen zu Organoiden |
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| Kurzfassung der Handlungsempfehlungen der IAG Gentechnologiebericht |
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| Limb malformations : an atlas of genetic disorders of limb development |
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| The mole genome reveals regulatory rearrangements associated with adaptive intersexuality |
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| Mouse clavicular development: Analysis of wild-type and cleidocranial dysplasia mutant mice |
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| Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1. |
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| Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation |
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| Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis |
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| Mutation analysis of BRCA1 and BRCA2 genes in Iranian high risk breast cancer families |
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| Mutation in precludes transcription factor cooperativity and causes congenital hypoventilation in humans and mice |
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| 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 |
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| Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein |
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| Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2 |
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| Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN |
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| Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction |
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| Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes |
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| Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. |
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| Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux |
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| Mutations in WNT1 cause different forms of bone fragility |
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| Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome |
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| Negative regulation of Wnt signaling mediated by CK1-phosphorylated Dishevelled via Ror2. |
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| Neurofibromin inactivation impairs osteocyte development in Nf1Prx1 and Nf1Col1 mouse models |
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| Neurofibromin (Nf1) is required for skeletal muscle development |
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| NOA1 is an essential GTPase required for mitochondrial protein synthesis |
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| Noncoding copy-number variations are associated with congenital limb malformation. |
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| Normal trabecular vertebral bone is formed via rapid transformation of mineralized spicules: A high-resolution 3D ex-vivo murine study |
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| One gene, many facets: multiple immune pathway dysregulation in SOCS1 haploinsufficiency |
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| The organization of the osteocyte network mirrors the extracellular matrix orientation in bone |
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| The other trinucleotide repeat: polyalanine expansion disorders |
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| Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2. |
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| Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations |
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| The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface |
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| Promiscuous and depolarization-induced immediate-early response genes are induced by mechanical strain of osteoblasts |
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| Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes |
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| Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome |
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| Receptor tyrosine kinase-like orphan receptor 2 (ROR2) and Indian hedgehog regulate digit outgrowth mediated by the phalanx-forming region |
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| Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa |
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| Redundant function of the heparan sulfate 6-O-endosulfatases Sulf1 and Sulf2 during skeletal development |
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| Regulation of cell polarity in the cartilage growth plate and perichondrium of metacarpal elements by HOXD13 and WNT5A |
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| Regulatory Landscaping: How Enhancer-Promoter Communication Is Sculpted in 3D |
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| Remodelling the genetics of spinocerebellar entities. New genes, phenotypes, and transmission modes lead to new concepts |
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| Response to Peron et al. |
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| RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: a potential factor in the pathogenesis of the Marfan syndrome |
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| Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation |
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| The role of 3D chromatin domains in gene regulation: a multi-facetted view on genome organization |
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| role of chromatin architecture in regulating Shh gene during mouse limb development |
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| Role of Runx genes in chondrocyte differentiation |
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| Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome |
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| Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome |
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| Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3 |
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| Serial genomic inversions induce tissue-specific architectural stripes, gene misexpression and congenital malformations |
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| Severe cleidocranial dysplasia can mimic hypophosphatasia |
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| Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. |
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| Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1. |
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| The single-cell transcriptional landscape of mammalian organogenesis |
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| Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options. |
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| Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient |
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| SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy |
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| SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome |
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| Split hand/foot malformation associated with 20p12.1 deletion: A case report |
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| Spondyloepiphyseal dysplasia Omani type: a new recessive type of SED with progressive spinal involvement |
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| Strategies to improve the performance of rare variant association studies by optimizing the selection of controls |
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| Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa |
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| Structural variations, the regulatory landscape of the genome and their alteration in human disease |
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| The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements |
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| Systematic Analysis of Posterior HOXA/HOXD Function in Mesenchymal Cells |
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| Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses. |
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| Trinukleotid-Expansion des Gens für zelluläre Glutathion-Peroxidase bei Patienten mit sporadischer amyotropher Lateralsklerose |
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| Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene |
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| Unblending of Transcriptional Condensates in Human Repeat Expansion Disease |
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| Unveil CDH1 regulatory network, beyond coding mutations in HDGC |
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| Up-regulation of RUNX2 in acute myeloid leukemia in a patient with an inherent RUNX2 haploinsufficiency and cleidocranial dysplasia |
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| VarFish: comprehensive DNA variant analysis for diagnostics and research |
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| Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals |
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| Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A |
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| Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion |
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| Wnt-ligand-dependent interaction of TAK1 (TGF-beta-activated kinase-1) with the receptor tyrosine kinase Ror2 modulates canonical Wnt-signalling |
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| Wnt1 is an Lrp5-independent bone-anabolic Wnt ligand |
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| Σύνδρομο Baller-Gerold |
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