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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
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- Publication type:
- Article
Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome.
- Published in:
- Human Genetics, 2001, v. 108, n. 1, p. 66, doi. 10.1007/s004390000432
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- Publication type:
- Article
Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.
- Published in:
- Scientific Reports, 2015, p. 17154, doi. 10.1038/srep17154
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- Publication type:
- Article
Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.
- Published in:
- Scientific Reports, 2015, p. 10200, doi. 10.1038/srep10200
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- Publication type:
- Article
Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.
- Published in:
- Journal of Bone & Mineral Research, 2015, v. 30, n. 10, p. 1814, doi. 10.1002/jbmr.2517
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- Publication type:
- Article
Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome.
- Published in:
- Journal of Bone & Mineral Research, 2011, v. 26, n. 3, p. 666, doi. 10.1002/jbmr.250
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- Publication type:
- Article
Clinical, radiographic, and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy.
- Published in:
- Rheumatology International, 2004, v. 24, n. 1, p. 53, doi. 10.1007/s00296-003-0341-0
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- Publication type:
- Article
TRPV4-pathy, a novel channelopathy affecting diverse systems.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 7, p. 400, doi. 10.1038/jhg.2010.37
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- Publication type:
- Article
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 5, p. 1410
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- Publication type:
- Article
A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 6, p. 859, doi. 10.1093/hmg/ddi079
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- Publication type:
- Article
CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome.
- Published in:
- Nature Communications, 2017, v. 8, n. 6, p. 15861, doi. 10.1038/ncomms15861
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- Publication type:
- Article
Skeletal Dysplasias Caused by Sulfation Defects.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 8, p. 2710, doi. 10.3390/ijms21082710
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- Publication type:
- Article
Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 6, p. 1072, doi. 10.1002/acn3.791
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- Publication type:
- Article
Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the Literature.
- Published in:
- Genes, 2023, v. 14, n. 9, p. 1745, doi. 10.3390/genes14091745
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- Publication type:
- Article
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.
- Published in:
- Genes, 2022, v. 13, n. 2, p. 261, doi. 10.3390/genes13020261
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- Publication type:
- Article
Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.
- Published in:
- Genes, 2022, v. 13, n. 1, p. 29, doi. 10.3390/genes13010029
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- Publication type:
- Article
CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations.
- Published in:
- Genes, 2021, v. 12, n. 9, p. 1427, doi. 10.3390/genes12091427
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- Publication type:
- Article
Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants.
- Published in:
- Genes, 2021, v. 12, n. 9, p. 1397, doi. 10.3390/genes12091397
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- Publication type:
- Article
NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges.
- Published in:
- Genes, 2021, v. 12, n. 5, p. 695, doi. 10.3390/genes12050695
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- Publication type:
- Article
The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers–Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases.
- Published in:
- Genes, 2020, v. 11, n. 4, p. 1, doi. 10.3390/genes11040420
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- Publication type:
- Article
Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4.
- Published in:
- Genes, 2020, v. 11, n. 1, p. 12, doi. 10.3390/genes11010012
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- Publication type:
- Article
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
- Published in:
- Genes, 2019, v. 10, n. 10, p. 799, doi. 10.3390/genes10100799
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- Publication type:
- Article
Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1141, doi. 10.1038/ejhg.2009.27
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- Publication type:
- Article
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 2, p. 150, doi. 10.1038/sj.ejhg.5201744
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- Publication type:
- Article
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.
- Published in:
- Nature Genetics, 2008, v. 40, n. 3, p. 287, doi. 10.1038/ng.86
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- Publication type:
- Article
Identification of mutations in CUL7 in 3-M syndrome.
- Published in:
- Nature Genetics, 2005, v. 37, n. 10, p. 1119, doi. 10.1038/ng1628
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- Publication type:
- Article
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.
- Published in:
- Nature Genetics, 2004, v. 36, n. 4, p. 405, doi. 10.1038/ng1319
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- Publication type:
- Article
Krogh's principle for a new era.
- Published in:
- 2003
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- Publication type:
- Editorial
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.
- Published in:
- Nature Genetics, 2003, v. 34, n. 4, p. 379, doi. 10.1038/ng1221
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- Publication type:
- Article
Multiple sulfatase deficiency with neonatal manifestation.
- Published in:
- Italian Journal of Pediatrics, 2014, v. 40, n. 1, p. 1, doi. 10.1186/s13052-014-0086-2
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- Publication type:
- Article
Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature.
- Published in:
- 2020
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- Publication type:
- journal article
Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 4, p. 1, doi. 10.1371/journal.pgen.1002050
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- Publication type:
- Article
Evolutionary Comparison Provides Evidence for Pathogenicity of RMRP Mutations.
- Published in:
- PLoS Genetics, 2005, v. 1, n. 4, p. 444, doi. 10.1371/journal.pgen.0010047
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- Publication type:
- Article
Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann-Pick type B and SQSTM1-associated Paget's disease in the same individual.
- Published in:
- 2019
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- Publication type:
- case study
Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease.
- Published in:
- Arthritis & Rheumatology, 2016, v. 68, n. 9, p. 2323, doi. 10.1002/art.39659
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- Publication type:
- Article
Case Report: A Rare Truncating Variant of the CFHR5 Gene in IgA Nephropathy.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.529236
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- Publication type:
- Article
L1CAM mutation in a boy with hydrocephalus and duplex kidneys.
- Published in:
- 2007
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- Publication type:
- Report
Difficulties in Diagnosis and Treatment of 5α-Reductase Type 2 Deficiency in a Newborn with 46,XY DSD.
- Published in:
- 2010
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- Publication type:
- Case Study
Identification of bi‐allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 2, p. 230, doi. 10.1111/cge.14336
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- Publication type:
- Article
Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia.
- Published in:
- Prenatal Diagnosis, 2008, v. 28, n. 4, p. 309, doi. 10.1002/pd.1976
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- Publication type:
- Article
Diagnosis of atelosteogenesis type II after a routine echography at 12 weeks' pregnancy.
- Published in:
- Prenatal Diagnosis, 2005, v. 25, n. 8, p. 717, doi. 10.1002/pd.1198
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- Publication type:
- Article
Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients.
- Published in:
- Skeletal Radiology, 2012, v. 41, n. 11, p. 1479, doi. 10.1007/s00256-012-1442-1
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- Publication type:
- Article
A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients.
- Published in:
- 2009
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- Publication type:
- journal article
Hyaline Fibromatosis Syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors.
- Published in:
- EMBO Molecular Medicine, 2011, v. 3, n. 4, p. 208, doi. 10.1002/emmm.201100124
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- Publication type:
- Article
Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification.
- Published in:
- 2024
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- Publication type:
- Letter
Tortuosity in non-atherosclerotic vascular diseases is associated with age, arterial aneurysms, and hypertension.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03231-9
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- Publication type:
- Article
Torg Syndrome Is Caused by Inactivating Mutations in MMP2 and Is Allelic to NAO and Winchester Syndrome.
- Published in:
- Journal of Bone & Mineral Research, 2007, v. 22, n. 2, p. 329, doi. 10.1359/JBMR.061013
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- Publication type:
- Article
Determination of Bone Markers in Pycnodysostosis: Effects of Cathepsin K Deficiency on Bone Matrix Degradation.
- Published in:
- Journal of Bone & Mineral Research, 1999, v. 14, n. 11, p. 1902, doi. 10.1359/jbmr.1999.14.11.1902
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- Publication type:
- Article
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.
- Published in:
- Nature Genetics, 1999, v. 23, n. 1, p. 94, doi. 10.1038/12699
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- 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
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- Publication type:
- Article