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Lista de obras de Stefan Mundlos

A GDF5 point mutation strikes twice--causing BDA1 and SYNS2

artículo científico publicado en 2013

A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia

artículo científico publicado en 2017

A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT.

artículo científico publicado en 2013

A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures

artículo científico publicado en 2008

A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa

artículo científico publicado en 2016

A fibrillin-1-fragment containing the elastin-binding-protein GxxPG consensus sequence upregulates matrix metalloproteinase-1: biochemical and computational analysis

artículo científico

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

artículo científico publicado en 2007

A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes

artículo científico publicado en 2009

A high-resolution anatomical atlas of the transcriptome in the mouse embryo

artículo científico publicado en 2011

A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation

artículo científico publicado en 2015

A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data

artículo científico publicado en 2016

A molecular pathogenesis for transcription factor associated poly-alanine tract expansions

artículo científico publicado en 2004

A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range.

artículo científico publicado en 2009

A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2.

artículo científico publicado en 2006

A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders

artículo científico publicado en 2005

A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.

artículo científico publicado en 2006

A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome

scientific article published on 01 November 2010

A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia

artículo científico publicado en 2014

A novel mutation in CDH11 , encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome

artículo científico publicado en 2018

A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B.

artículo científico publicado en 2007

A novel subtype of distal symphalangism affecting only the 4th finger

artículo científico publicado en 2009

A restricted spectrum of NRAS mutations causes Noonan syndrome

artículo científico publicado en 2010

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders

artículo científico publicado en 2008

Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2

artículo científico publicado en 2005

Advances in computer-assisted syndrome recognition and differentiation in a set of metabolic disorders

Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism.

artículo científico publicado en 2018

An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression

artículo científico publicado en 2005

An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.

artículo científico publicado en 2016

An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation

Antenatal onset of cortical hyperostosis (Caffey disease): case report and review.

artículo científico publicado en 2003

Arteries define the position of the thyroid gland during its developmental relocalisation

scientific journal article

Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy

artículo científico publicado en 2002

BMPs as new insulin sensitizers: enhanced glucose uptake in mature 3T3-L1 adipocytes via PPARγ and GLUT4 upregulation.

artículo científico publicado en 2017

Baller–Gerold Syndrome

human disease

Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?

artículo científico publicado en 2015

Brachydactyly type A1 with short humerus and associated skeletal features

artículo científico publicado en 2010

Brachydactyly type A2 associated with a defect in proGDF5 processing

artículo científico publicado en 2008

Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1.

artículo científico publicado en 2004

Breaking TADs: How Alterations of Chromatin Domains Result in Disease

artículo científico publicado en 2016

CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait

artículo científico publicado en 2009

Characterization of Glycosylphosphatidylinositol Biosynthesis Defects by Clinical Features, Flow Cytometry, and Automated Image Analysis

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.

artículo científico publicado en 2018

Characterization of hundreds of regulatory landscapes in developing limbs reveals two regimes of chromatin folding

artículo científico publicado en 2016

Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1

artículo científico publicado en 2009

Cleidocranial dysplasia in a mother and her two children

artículo científico publicado en 2008

Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia

artículo científico publicado en 2002

Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome

artículo científico publicado en 2005

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

artículo científico publicado en 2009

Clinical phenotype and relevance of LRP5 and LRP6 variants in patients with early-onset osteoporosis (EOOP)

artículo científico publicado en 2020

Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome.

artículo científico publicado en 2006

Combining callers improves the detection of copy number variants from whole-genome sequencing

artículo científico publicado en 2021

Comparative expression pattern of Odd-skipped related genes Osr1 and Osr2 in chick embryonic development

artículo científico publicado en 2006

Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis

artículo científico publicado en 2018

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions

artículo científico

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

artículo científico publicado en 2007

Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing

artículo científico publicado en 2011

Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog).

artículo científico publicado en 2017

Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia

Comprehensive expression analysis of all Wnt genes and their major secreted antagonists during mouse limb development and cartilage differentiation.

artículo científico publicado en 2009

Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis

artículo científico publicado en 2010

Copy-number variations, noncoding sequences, and human phenotypes

artículo científico publicado en 2011

Corrigendum to “Mammalian mitochondrial nitric oxide synthase: Characterization of a novel candidate” [FEBS Lett. 580 (2006) 455-462]

scholarly article published in FEBS Letters

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.

artículo científico publicado en 2018

Czech dysplasia: report of a large family and further delineation of the phenotype.

artículo científico publicado en 2008

DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies

artículo científico publicado en 2015

DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.

artículo científico publicado en 2015

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction

artículo científico publicado en 2017

De novo 9 Mb deletion of 6q23.2q24.1 disrupting the gene EYA4 in a patient with sensorineural hearing loss, cardiac malformation, and mental retardation

artículo científico publicado en 2009

Deletion and point mutations of PTHLH cause brachydactyly type E.

artículo científico publicado en 2010

Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly

artículo científico publicado en 2012

Deletions of chromosomal regulatory boundaries are associated with congenital disease

artículo científico publicado en 2014

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families

artículo científico publicado en 2014

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.

artículo científico publicado en 2010

Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice.

artículo científico publicado en 2015

Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings

scientific article published on 18 July 2019

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions

artículo científico publicado en 2015

Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations

scientific journal article

Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient

artículo científico publicado en 2015

Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia

artículo científico publicado en 2016

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

artículo científico publicado en 2009

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

artículo científico publicado en 2011

Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.

artículo científico publicado en 2009

Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis

artículo científico publicado en 2018

Dyschromatosis universalis hereditaria: familial case and ultrastructural skin investigation.

artículo científico publicado en 2004

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

artículo científico publicado en 2014

Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study

artículo científico publicado en 2020

Endochondral ossification in vitro is influenced by mechanical bending.

artículo científico publicado en 2006

Enhancer hijacking determines extrachromosomal circular MYCN amplicon architecture in neuroblastoma

artículo científico publicado en 2020

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit

artículo científico publicado en 2006

Evolution of a core gene network for skeletogenesis in chordates

artículo científico publicado en 2008

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

artículo científico publicado en 2016

Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa

artículo científico publicado en 2020

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

artículo científico publicado en 2006

Expression of Runx2 transcription factor in non-skeletal tissues, sperm and brain

artículo científico publicado en 2008

Expression of galectin-3 in skeletal tissues is controlled by Runx2.

artículo científico publicado en 2003

Expression of type XXIII collagen mRNA and protein

artículo científico publicado en 2006

Expression patterns of sulfatase genes in the developing mouse embryo

artículo científico publicado en 2010

Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome.

artículo científico publicado en 2007

FGF and ROR2 receptor tyrosine kinase signaling in human skeletal development

artículo científico

FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies.

artículo científico publicado en 2015

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

artículo científico publicado en 2011

Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement.

artículo científico publicado en 2016

Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees

artículo científico publicado en 2013

First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature

article

Formation of new chromatin domains determines pathogenicity of genomic duplications

artículo científico publicado en 2016

Functional dissection of the Sox9-Kcnj2 locus identifies nonessential and instructive roles of TAD architecture

scientific article published on 29 July 2019

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

artículo científico publicado en 2012

Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5

article

GENE-02. CHROMOSOME CONFORMATION ANALYSIS OF EPENDYMOMA IDENTIFIES PUTATIVE TUMOR DEPENDENCY GENES ACTIVATED BY DISTAL ONCOGENIC ENHANCERS

artículo científico publicado en 2019

GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution

scientific article published on 14 January 2019

GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting.

artículo científico publicado en 2015

Gene identification and analysis of transcripts differentially regulated in fracture healing by EST sequencing in the domestic sheep

artículo científico publicado en 2006

Gene-Ontology analysis reveals association of tissue-specific 5' CpG-island genes with development and embryogenesis

artículo científico publicado en 2004

Genes and quadrupedal locomotion in humans

artículo científico publicado en 2008

Genetic disorders of the skeleton: a developmental approach

artículo científico publicado en 2003

Genome-Wide Binding of Posterior HOXA/D Transcription Factors Reveals Subgrouping and Association with CTCF.

artículo científico publicado en 2017

Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects

artículo científico publicado en 2012

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

artículo científico publicado en 2013

Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24.

artículo científico publicado en 2008

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

artículo científico publicado en 2008

H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome

scientific article published on 02 February 2019

HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing

artículo científico publicado en 2009

Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases

artículo científico publicado en 2020

High resolution 3D laboratory x-ray tomography data of femora from young, 1-14 day old C57BL/6 mice

artículo científico publicado en 2015

High-throughput sequencing of microdissected chromosomal regions

artículo científico publicado en 2009

Homeobox genes d11-d13 and a13 control mouse autopod cortical bone and joint formation

artículo científico publicado en 2010

Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus

artículo científico publicado en 2012

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome

artículo científico publicado en 2014

Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings

artículo científico publicado en 2011

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe

scientific journal article

Identifying cis Elements for Spatiotemporal Control of Mammalian DNA Replication

scientific article published on 27 December 2018

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

artículo científico publicado en 2010

Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1.

artículo científico publicado en 2007

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

artículo científico publicado en 2007

Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica.

artículo científico publicado en 2018

Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndrome.

artículo científico publicado en 2014

Induction of macrophage chemotaxis by aortic extracts of the mgR Marfan mouse model and a GxxPG-containing fibrillin-1 fragment.

artículo científico publicado en 2006

Jumping retroviruses nudge TADs apart

artículo científico publicado en 2019

L1Base 2: more retrotransposition-active LINE-1s, more mammalian genomes

artículo científico publicado en 2017

Lgr5 and Col22a1 Mark Progenitor Cells in the Lineage toward Juvenile Articular Chondrocytes

scientific article published on 12 September 2019

Long bone maturation is driven by pore closing: A quantitative tomography investigation of structural formation in young C57BL/6 mice

artículo científico publicado en 2015

Looking beyond the genes: the role of non-coding variants in human disease

artículo científico publicado en 2016

Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement

artículo científico publicado en 2004

Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation.

artículo científico publicado en 2018

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

artículo científico publicado en 2009

Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome

artículo científico publicado en 2013

Lumbar disc degeneration is linked to a carbohydrate sulfotransferase 3 variant.

artículo científico publicado en 2013

MIA is a potential biomarker for tumour load in neurofibromatosis type 1

artículo científico publicado en 2011

Madelung deformity in a girl with a novel and de novo mutation in theGNASgene

artículo científico publicado en 2011

Mammalian mitochondrial nitric oxide synthase: characterization of a novel candidate

scientific journal article

Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome

artículo científico publicado en 2012

Mechanisms of digit formation: Human malformation syndromes tell the story ⬇️

artículo científico publicado el 18 de febrero de 2011

Mesenchymal stromal cells of myelodysplastic syndrome and acute myeloid leukemia patients have distinct genetic abnormalities compared with leukemic blasts

artículo científico publicado en 2011

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.

artículo científico publicado en 2010

MiR-497∼195 cluster microRNAs regulate osteoblast differentiation by targeting BMP signaling

artículo científico publicado en 2015

MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites

artículo científico publicado en 2011

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

artículo científico publicado en 2015

Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia

artículo científico publicado en 2012

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

artículo científico publicado en 2014

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

article published in 2015

Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin

artículo científico publicado en 2008

Modulation of GDF5/BRI-b signalling through interaction with the tyrosine kinase receptor Ror2.

artículo científico publicado en 2004

Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C

artículo científico publicado en 2014

Monozygotic twins with neurofibromatosis type 1 (NF1) display differences in methylation of NF1 gene promoter elements, 5' untranslated region, exon and intron 1.

artículo científico publicado en 2010

Mouse clavicular development: Analysis of wild-type and cleidocranial dysplasia mutant mice ⬇️

artículo científico publicado el 1 de septiembre de 1997

Multiple roles for neurofibromin in skeletal development and growth

article

Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1.

artículo científico publicado en 2014

Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation

artículo científico publicado en 2018

Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis

artículo científico publicado en 2008

Mutation analysis of BRCA1 and BRCA2 genes in Iranian high risk breast cancer families

artículo científico publicado en 2005

Mutation in precludes transcription factor cooperativity and causes congenital hypoventilation in humans and mice

article published in the Proceedings of the National Academy of Sciences of the United States of America

Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein

artículo científico publicado en 2010

Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN

scientific journal article

Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction

artículo científico publicado en 2017

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes

artículo científico publicado en 2003

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation

artículo científico publicado en 2014

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation

artículo científico publicado en 2012

Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.

artículo científico publicado en 2010

Mutations in PYCR1 cause cutis laxa with progeroid features

artículo científico publicado en 2009

Mutations in WNT1 cause different forms of bone fragility

artículo científico publicado en 2013

Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2

artículo científico publicado en 2003

Mutations in the RUNX2 gene in patients with cleidocranial dysplasia

artículo científico publicado en 2002

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux

artículo científico publicado en 2004

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

artículo científico publicado en 2005

NOA1 is an essential GTPase required for mitochondrial protein synthesis

scientific journal article

Negative regulation of Wnt signaling mediated by CK1-phosphorylated Dishevelled via Ror2.

artículo científico publicado en 2010

Neurofibromin (Nf1) is required for skeletal muscle development

artículo científico publicado en 2011

Neurofibromin inactivation impairs osteocyte development in Nf1Prx1 and Nf1Col1 mouse models

artículo científico publicado en 2014

Noncoding copy-number variations are associated with congenital limb malformation.

artículo científico publicado en 2017

Normal trabecular vertebral bone is formed via rapid transformation of mineralized spicules: A high-resolution 3D ex-vivo murine study

artículo científico publicado en 2018

Nosology and classification of genetic skeletal disorders: 2010 revision.

artículo científico publicado en 2011

Nosology and classification of genetic skeletal disorders: 2015 revision.

artículo científico publicado en 2015

Nosology and classification of genetic skeletal disorders: 2019 revision

scientific article published on 21 October 2019

Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms

artículo científico publicado en 2017

Odd-skipped related genes regulate differentiation of embryonic limb mesenchyme and bone marrow mesenchymal stromal cells.

artículo científico publicado en 2011

Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family

artículo científico publicado en 2010

P4: Ulnar-mammary syndrome with mental retardation caused by a novel 0.8 Mb deletion encompassing the TBX3 gene

article

PDE3A mutations cause autosomal dominant hypertension with brachydactyly

artículo científico publicado en 2015

PEDIA: prioritization of exome data by image analysis

artículo científico publicado en 2019

PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome

artículo científico publicado en 2013

Pathogenic Variants in GPC4 Cause Keipert Syndrome

scientific article published on 11 April 2019

Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4 ⬇️

artículo científico publicado en 2012

Plant nitric oxide synthase: a never-ending story?

article

Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model

artículo científico publicado en 2004

Polymer physics predicts the effects of structural variants on chromatin architecture.

artículo científico publicado en 2018

Preformed chromatin topology assists transcriptional robustness of Shh during limb development

artículo científico publicado en 2019

Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2.

artículo científico publicado en 2002

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations

artículo científico publicado en 2008

Promiscuous and depolarization-induced immediate-early response genes are induced by mechanical strain of osteoblasts

artículo científico publicado en 2009

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

artículo científico publicado en 2012

RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: a potential factor in the pathogenesis of the Marfan syndrome

artículo científico publicado en 2004

Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome

artículo científico publicado en 2016

Receptor tyrosine kinase-like orphan receptor 2 (ROR2) and Indian hedgehog regulate digit outgrowth mediated by the phalanx-forming region

scientific journal article

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

scientific journal article

Redundant function of the heparan sulfate 6-O-endosulfatases Sulf1 and Sulf2 during skeletal development

scientific journal article

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

scientific article published on 01 June 2019

Response to Peron et al.

artículo científico publicado en 2018

Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation

artículo científico publicado en 2008

Role of Runx genes in chondrocyte differentiation

artículo científico publicado en 2002

Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome

scientific journal article

SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy

scientific article published on 24 April 2019

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

artículo científico publicado en 2007

Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome

artículo científico publicado en 2014

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

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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.

artículo científico publicado en 2013

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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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 variation in the 3D genome.

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Structural variations, the regulatory landscape of the genome and their alteration in human disease

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The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease

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The LIM domain protein Wtip interacts with the receptor tyrosine kinase Ror2 and inhibits canonical Wnt signalling

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The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process

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The face of Ulnar Mammary syndrome?

artículo científico publicado en 2011

The fibrodysplasia ossificans progressiva R206H ACVR1 mutation activates BMP-independent chondrogenesis and zebrafish embryo ventralization

scientific article published on 12 October 2009

The mole genome reveals regulatory rearrangements associated with adaptive intersexuality

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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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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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The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface

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The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway

artículo científico publicado en 2003

The role of 3D chromatin domains in gene regulation: a multi-facetted view on genome organization

scientific article published on 17 March 2020

The single-cell transcriptional landscape of mammalian organogenesis

artículo científico publicado en 2019

The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements

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The three-dimensional genome: regulating gene expression during pluripotency and development.

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Three-dimensional chromatin in disease: What holds us together and what drives us apart?

scientific article published on 06 February 2020

Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses.

artículo científico publicado en 2018

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

scientific article published on 05 May 2020

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

artículo científico publicado en 2020

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

artículo científico publicado en 2013

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

artículo científico publicado en 2018

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