Found: 59
Select item for more details and to access through your institution.
Sickness and Aggressive Behavior in Dominant and Subordinate Mice.
- Published in:
- Ethology, 2009, v. 115, n. 2, p. 112, doi. 10.1111/j.1439-0310.2008.01608.x
- By:
- Publication type:
- Article
Mutations in the Cartilage Oligomeric Matrix Protein (COMP) Gene in Pseudoachondroplasia and Multiple Epiphyseal Dysplasiaa.
- Published in:
- Annals of the New York Academy of Sciences, 1996, v. 785, n. 1, p. 188, doi. 10.1111/j.1749-6632.1996.tb56258.x
- By:
- Publication type:
- Article
Mutations Affecting Multiple Functional Domains of FGFR3 Cause Different Skeletal Dysplasias: A Personal Retrospective in Honor of John Wasmuth.
- Published in:
- Annals of the New York Academy of Sciences, 1996, v. 785, n. 1, p. 160, doi. 10.1111/j.1749-6632.1996.tb56254.x
- By:
- Publication type:
- Article
Sulfate Transport in Chondrodysplasia,a.
- Published in:
- Annals of the New York Academy of Sciences, 1996, v. 785, n. 1, p. 131, doi. 10.1111/j.1749-6632.1996.tb56251.x
- By:
- Publication type:
- Article
General Strategies for Isolating the Genes Encoding Type I Collagen and for Characterizing Mutations Which Produce Osteogenesis Imperfecta<sup>a</sup>.
- Published in:
- Annals of the New York Academy of Sciences, 1988, v. 543, n. 1, p. 129, doi. 10.1111/j.1749-6632.1988.tb55325.x
- By:
- Publication type:
- Article
Osteogenesis Imperfecta: The Molecular Basis of Clinical Heterogeneity<sup>a</sup>.
- Published in:
- Annals of the New York Academy of Sciences, 1988, v. 543, n. 1, p. 117, doi. 10.1111/j.1749-6632.1988.tb55324.x
- By:
- Publication type:
- Article
Nosology of genetic skeletal disorders: 2023 revision.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1164, doi. 10.1002/ajmg.a.63132
- By:
- Publication type:
- Article
Nosology and classification of genetic skeletal disorders: 2019 revision.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2393, doi. 10.1002/ajmg.a.61366
- By:
- Publication type:
- Article
The α2 chain of type IX collagen is essential for type IX collagen biosynthesis.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1672, doi. 10.1002/ajmg.a.61208
- By:
- Publication type:
- Article
Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2887, doi. 10.1002/ajmg.a.40647
- By:
- Publication type:
- Article
MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2415, doi. 10.1002/ajmg.a.38349
- By:
- Publication type:
- Article
Somatic Mosaicism for a Lethal TRPV4 Mutation Results in Non-Lethal Metatropic Dysplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3298, doi. 10.1002/ajmg.a.37942
- By:
- Publication type:
- Article
Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2652, doi. 10.1002/ajmg.a.37772
- By:
- Publication type:
- Article
A second locus for schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 ( INPPL1).
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2470, doi. 10.1002/ajmg.a.37173
- By:
- Publication type:
- Article
Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2407, doi. 10.1002/ajmg.a.36640
- By:
- Publication type:
- Article
Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 309, doi. 10.1002/ajmg.a.34406
- By:
- Publication type:
- Article
Mutations in SERPINF1 cause osteogenesis imperfecta type VI.
- Published in:
- Journal of Bone & Mineral Research, 2011, v. 26, n. 12, p. 2798, doi. 10.1002/jbmr.487
- By:
- Publication type:
- Article
Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human.
- Published in:
- Nature Medicine, 2007, v. 13, n. 11, p. 1363, doi. 10.1038/nm1655
- By:
- Publication type:
- Article
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.
- Published in:
- Nature Genetics, 2008, v. 40, n. 8, p. 999, doi. 10.1038/ng.166
- By:
- Publication type:
- Article
First-trimester prenatal diagnosis of osteogenesis imperfecta type II by DNA analysis and sonography.
- Published in:
- 1993
- By:
- Publication type:
- journal article
MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype.
- Published in:
- Pediatric Radiology, 2001, v. 31, n. 1, p. 10, doi. 10.1007/s002470000362
- By:
- Publication type:
- Article
Intervertebral disc degeneration is rescued by TGFβ/BMP signaling modulation in an ex vivo filamin B mouse model.
- Published in:
- Bone Research, 2022, v. 10, n. 1, p. 1, doi. 10.1038/s41413-022-00200-5
- By:
- Publication type:
- Article
A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis.
- Published in:
- Scientific Reports, 2017, p. 41803, doi. 10.1038/srep41803
- By:
- Publication type:
- Article
Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.
- Published in:
- Scientific Reports, 2016, p. 34232, doi. 10.1038/srep34232
- By:
- Publication type:
- Article
Generalized Connective Tissue Disease in Crtap-/- Mouse.
- Published in:
- PLoS ONE, 2010, v. 5, n. 5, p. 1, doi. 10.1371/journal.pone.0010560
- By:
- Publication type:
- Article
Genetic heterogeneity in familial renal magnesium wasting.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 2, p. 612, doi. 10.1210/jcem.87.2.8071
- By:
- Publication type:
- Article
Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 3, p. 265, doi. 10.1038/sj.ejhg.5200950
- By:
- Publication type:
- Article
Exclusion of the Ellis–van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 8, p. 645, doi. 10.1038/sj.ejhg.5200507
- By:
- Publication type:
- Article
Improving the efficiency of genomic loci capture usingoligonucleotide arrays for high throughput resequencing.
- Published in:
- BMC Genomics, 2009, v. 10, p. 646, doi. 10.1186/1471-2164-10-646
- By:
- Publication type:
- Article
Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression.
- Published in:
- BMC Genomics, 2007, v. 8, p. 165, doi. 10.1186/1471-2164-8-165
- By:
- Publication type:
- Article
Follistatin in chondrocytes: the link between TRPV4 channelopathies and skeletal malformations.
- Published in:
- FASEB Journal, 2014, v. 28, n. 6, p. 2525, doi. 10.1096/fj.13-245936
- By:
- Publication type:
- Article
Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.
- Published in:
- Nature Communications, 2015, v. 6, n. 6, p. 1, doi. 10.1038/ncomms8092
- By:
- Publication type:
- Article
The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling.
- Published in:
- Science Translational Medicine, 2018, v. 10, n. 459, p. 1, doi. 10.1126/scitranslmed.aat9356
- By:
- Publication type:
- Article
Genes uniquely expressed in human growth plate chondrocytes uncover a distinct regulatory network.
- Published in:
- BMC Genomics, 2017, v. 18, p. 1, doi. 10.1186/s12864-017-4378-y
- By:
- Publication type:
- Article
IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 18, p. 4012, doi. 10.1093/hmg/ddw241
- By:
- Publication type:
- Article
An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 18, p. 3998, doi. 10.1093/hmg/ddw240
- By:
- Publication type:
- Article
HSP47 and FKBP65 cooperate in the synthesis of type I procollagen.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 7, p. 1918, doi. 10.1093/hmg/ddu608
- By:
- Publication type:
- Article
Dominant‐negative SOX9 mutations in campomelic dysplasia.
- Published in:
- Human Mutation, 2019, v. 40, n. 12, p. 2344, doi. 10.1002/humu.23888
- By:
- Publication type:
- Article
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
- Published in:
- Human Mutation, 2018, v. 39, n. 1, p. 152, doi. 10.1002/humu.23362
- By:
- Publication type:
- Article
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
- Published in:
- Human Mutation, 2007, v. 28, n. 3, p. 209, doi. 10.1002/humu.20429
- By:
- Publication type:
- Article
Mutations in two regions of FLNB result in atelosteogenesis I and III.
- Published in:
- Human Mutation, 2006, v. 27, n. 7, p. 705, doi. 10.1002/humu.20348
- By:
- Publication type:
- Article
Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 5, p. 631
- By:
- Publication type:
- Article
4‐PBA Treatment Improves Bone Phenotypes in the Aga2 Mouse Model of Osteogenesis Imperfecta.
- Published in:
- Journal of Bone & Mineral Research, 2022, v. 37, n. 4, p. 675, doi. 10.1002/jbmr.4501
- By:
- Publication type:
- Article
A Chaperone Complex Formed by HSP47, FKBP65, and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I Procollagen.
- Published in:
- Journal of Bone & Mineral Research, 2017, v. 32, n. 6, p. 1309, doi. 10.1002/jbmr.3095
- By:
- Publication type:
- Article
Mice Expressing Mutant Trpv4 Recapitulate the Human TRPV4 Disorders.
- Published in:
- Journal of Bone & Mineral Research, 2014, v. 29, n. 8, p. 1815, doi. 10.1002/jbmr.2220
- By:
- Publication type:
- Article
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.
- Published in:
- Nature Genetics, 1999, v. 21, n. 3, p. 302, doi. 10.1038/6821
- By:
- Publication type:
- Article
Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse.
- Published in:
- Nature Genetics, 1998, v. 20, n. 2, p. 157, doi. 10.1038/2458
- By:
- Publication type:
- Article
Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia.
- Published in:
- Human Mutation, 1998, v. 11, p. S10, doi. 10.1002/humu.1380110105
- By:
- Publication type:
- Article