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Whole genome sequencing in families with oligodontia.
- Published in:
- Oral Diseases, 2024, v. 30, n. 6, p. 3935, doi. 10.1111/odi.14816
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- Publication type:
- Article
RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: A potential factor in the pathogenesis of the Marfan syndrome.
- Published in:
- Human Genetics, 2005, v. 116, n. 1/2, p. 51, doi. 10.1007/s00439-004-1194-7
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- Publication type:
- Article
Doxorubicin Changes the Spatial Organization of the Genome around Active Promoters.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 15, p. 2001, doi. 10.3390/cells12152001
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- Publication type:
- Article
Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 8, p. 419, doi. 10.1038/jhg.2015.48
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- Publication type:
- Article
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37057-z
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- Publication type:
- Article
Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
- Published in:
- 2023
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- Publication type:
- Correction Notice
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37057-z
- By:
- Publication type:
- Article
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
- Published in:
- Nature Communications, 2023, v. 14, p. 1, doi. 10.1038/s41467-023-37057-z
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- Publication type:
- Article
Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation.
- Published in:
- PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0198510
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- Publication type:
- Article
Clinical Phenotype and Relevance of LRP5 and LRP6 Variants in Patients With Early‐Onset Osteoporosis (EOOP).
- Published in:
- Journal of Bone & Mineral Research, 2021, v. 36, n. 2, p. 271, doi. 10.1002/jbmr.4197
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- Publication type:
- Article
MiR-497∼195 Cluster MicroRNAs Regulate Osteoblast Differentiation by Targeting BMP Signaling.
- Published in:
- Journal of Bone & Mineral Research, 2015, v. 30, n. 5, p. 796, doi. 10.1002/jbmr.2412
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- Publication type:
- Article
Promiscuous and Depolarization-Induced Immediate-Early Response Genes Are Induced by Mechanical Strain of Osteoblasts.
- Published in:
- Journal of Bone & Mineral Research, 2009, v. 24, n. 7, p. 1247, doi. 10.1359/JBMR.090206
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- Publication type:
- Article
Negative regulation of Wnt signaling mediated by CK1-phosphorylated Dishevelled via Ror2.
- Published in:
- FASEB Journal, 2010, v. 24, n. 7, p. 2417, doi. 10.1096/fj.09-150615
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- Publication type:
- Article
Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing.
- Published in:
- BMC Genomics, 2011, v. 12, p. 1, doi. 10.1186/1471-2164-12-158
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- Publication type:
- Article
Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing.
- Published in:
- BMC Genomics, 2011, v. 12, n. 1, p. 158, doi. 10.1186/1471-2164-12-158
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- Publication type:
- Article
Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-33066-x
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- Publication type:
- Article
Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study.
- Published in:
- 2020
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- Publication type:
- journal article
Neurofibromin (Nf1) is required for skeletal muscle development.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 14, p. 2697, doi. 10.1093/hmg/ddr149
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- Publication type:
- Article
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 21, p. 4013, doi. 10.1093/hmg/ddp345
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- Publication type:
- Article
Brachydactyly type A2 associated with a defect in proGDF5 processing.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 9, p. 1222, doi. 10.1093/hmg/ddn012
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- Publication type:
- Article
Multiple roles for neurofibromin in skeletal development and growth.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 8, p. 874, doi. 10.1093/hmg/ddm032
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- Publication type:
- Article
Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 22, p. 2841, doi. 10.1093/hmg/ddh306
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- Publication type:
- Article
A molecular pathogenesis for transcription factor associated poly-alanine tract expansions.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 20, p. 2351, doi. 10.1093/hmg/ddh277
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- Publication type:
- Article
Gene-Ontology analysis reveals association of tissue-specific 5′ CpG-island genes with development and embryogenesis.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 17, p. 1969, doi. 10.1093/hmg/ddh207
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- Publication type:
- Article
REEV: review, evaluate and explain variants.
- Published in:
- Nucleic Acids Research, 2024, v. 52, n. W1, p. W148, doi. 10.1093/nar/gkae366
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- Publication type:
- Article
Wnt1 is an Lrp5-independent bone-anabolic Wnt ligand.
- Published in:
- Science Translational Medicine, 2018, v. 10, n. 466, p. 1, doi. 10.1126/scitranslmed.aau7137
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- Publication type:
- Article
LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2022, v. 15, n. 3, p. 421, doi. 10.1002/aur.2677
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- Publication type:
- Article
Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 870, doi. 10.1038/ejhg.2014.210
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- Publication type:
- Article
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 633, doi. 10.1038/ejhg.2014.109
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- Publication type:
- Article
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 720, doi. 10.1038/ejhg.2014.278
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- Publication type:
- Article
Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 726, doi. 10.1038/ejhg.2013.222
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- Publication type:
- Article
Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 743, doi. 10.1038/ejhg.2012.240
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- Publication type:
- Article
Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects.
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- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 367, doi. 10.1038/ejhg.2012.198
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- Publication type:
- Article
Cell adhesion and immune response, two main functions altered in the transcriptome of seasonally regressed testes of two mammalian species.
- Published in:
- Journal of Experimental Zoology Part B: Molecular & Developmental Evolution, 2023, v. 340, n. 3, p. 231, doi. 10.1002/jez.b.23142
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- Publication type:
- Article
What can go wrong in the non-coding genome and how to interpret whole genome sequencing data.
- Published in:
- Medizinische Genetik, 2021, v. 33, n. 2, p. 121, doi. 10.1515/medgen-2021-2071
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- Publication type:
- Article
Nicht-kodierende Mutationen.
- Published in:
- Medizinische Genetik, 2015, v. 27, n. 1, p. 19, doi. 10.1007/s11825-014-0033-z
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- Publication type:
- Article
Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis.
- Published in:
- 2018
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- Publication type:
- journal article
A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Modulation of GDF5/BRI-b signalling through interaction with the tyrosine kinase receptor Ror2.
- Published in:
- Genes to Cells, 2004, v. 9, n. 12, p. 1227, doi. 10.1111/j.1365-2443.2004.00799.x
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- Publication type:
- Article
The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway.
- Published in:
- Genes to Cells, 2003, v. 8, n. 7, p. 645, doi. 10.1046/j.1365-2443.2003.00662.x
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- Publication type:
- Article
A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 6, p. 318, doi. 10.1159/000479721
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- Publication type:
- Article
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 754, doi. 10.1038/ejhg.2012.6
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- Publication type:
- Article
Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 705, doi. 10.1038/ejhg.2011.264
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- Publication type:
- Article
Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1310, doi. 10.1038/ejhg.2010.116
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- Publication type:
- Article
High-throughput sequencing of microdissected chromosomal regions.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 4, p. 457, doi. 10.1038/ejhg.2009.196
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- Publication type:
- Article
HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1570, doi. 10.1038/ejhg.2009.104
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- Publication type:
- Article
Ulnar–mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1274, doi. 10.1038/sj.ejhg.5201696
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- Publication type:
- Article
A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1248, doi. 10.1038/sj.ejhg.5201708
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- Publication type:
- Article
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 11, p. 858, doi. 10.1038/sj.ejhg.5201050
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- Publication type:
- Article
PDE3A mutations cause autosomal dominant hypertension with brachydactyly.
- Published in:
- Nature Genetics, 2015, v. 47, n. 6, p. 647, doi. 10.1038/ng.3302
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- Publication type:
- Article