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Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family.
- Published in:
- Clinical Autonomic Research, 2023, v. 33, n. 4, p. 421, doi. 10.1007/s10286-023-00963-9
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- Publication type:
- Article
Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders.
- Published in:
- Genes, 2023, v. 14, n. 7, p. 1404, doi. 10.3390/genes14071404
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- Publication type:
- Article
ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function.
- Published in:
- Frontiers in Molecular Neuroscience, 2022, v. 15, p. 01, doi. 10.3389/fnmol.2022.988993
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- Publication type:
- Article
Inflammation and Interferon Signatures in Peripheral B-Lymphocytes and Sera of Individuals With Fibromyalgia.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.874490
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- Publication type:
- Article
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 2, p. 318, doi. 10.1111/cge.13878
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- Publication type:
- Article
Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele.
- Published in:
- International Journal of Hematology, 2020, v. 112, n. 6, p. 894, doi. 10.1007/s12185-020-02950-6
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- Publication type:
- Article
Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants.
- Published in:
- BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-00737-6
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- Publication type:
- Article
DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors.
- Published in:
- Clinical Epigenetics, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13148-019-0803-1
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- Publication type:
- Article
Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions.
- Published in:
- Molecular Neurobiology, 2019, v. 56, n. 10, p. 7113, doi. 10.1007/s12035-019-1585-3
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- Publication type:
- Article
Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42.
- Published in:
- Human Mutation, 2019, v. 40, n. 7, p. 899, doi. 10.1002/humu.23755
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- Publication type:
- Article
Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.723
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- Publication type:
- Article
Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0504-6
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- Publication type:
- Article
Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage.
- Published in:
- PLoS Genetics, 2017, v. 13, n. 7, p. 1, doi. 10.1371/journal.pgen.1006897
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- Publication type:
- Article
Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0349-4
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- Publication type:
- Article
Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease.
- Published in:
- BMC Pulmonary Medicine, 2016, v. 16, p. 1, doi. 10.1186/s12890-016-0309-y
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- Publication type:
- Article
A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0326-y
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- Publication type:
- Article
Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1679, doi. 10.1038/ejhg.2015.49
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- Publication type:
- Article
A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 69, doi. 10.1186/s12881-014-0133-2
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- Publication type:
- Article
Abolished InsP<sub>3</sub> R2 function inhibits sweat secretion in both humans and mice.
- Published in:
- Journal of Clinical Investigation, 2014, v. 124, n. 11, p. 4773, doi. 10.1172/JCI70720
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- Publication type:
- Article
Abolished InsP3R2 function inhibits sweat secretion in both humans and mice.
- Published in:
- 2014
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- Publication type:
- journal article
Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1180, doi. 10.1038/ejhg.2014.5
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- Publication type:
- Article
Recurrent GATA1 mutations in Diamond-Blackfan anaemia.
- Published in:
- British Journal of Haematology, 2014, v. 166, n. 6, p. 949, doi. 10.1111/bjh.12919
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- Publication type:
- Article
Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-71
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- Publication type:
- Article
Recurrent GATA1 mutations in Diamond-Blackfan anaemia.
- Published in:
- British Journal of Haematology, 2014, v. 165, n. 1, p. 949, doi. 10.1111/bjh.12919
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- Publication type:
- Article
Autosomal Recessive Transmission of a Rare <i>KRT74</i> Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis.
- Published in:
- PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0093607
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- Publication type:
- Article
WNT 10A mutations account for ¼ of population-based isolated oligodontia and show phenotypic correlations.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 353, doi. 10.1002/ajmg.a.36243
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- Publication type:
- Article
Frizzled6 Deficiency Disrupts the Differentiation Process of Nail Development.
- Published in:
- Journal of Investigative Dermatology, 2013, v. 133, n. 8, p. 1990, doi. 10.1038/jid.2013.84
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- Publication type:
- Article
Welander Distal Myopathy Caused by an Ancient Founder Mutation in TIA1 Associated with Perturbed Splicing.
- Published in:
- Human Mutation, 2013, v. 34, n. 4, p. 572, doi. 10.1002/humu.22282
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- Publication type:
- Article
Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I).
- Published in:
- BMC Medical Genetics, 2012, v. 13, n. 1, p. 120, doi. 10.1186/1471-2350-13-120
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- Publication type:
- Article
Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1616, doi. 10.1002/ajmg.a.34045
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- Publication type:
- Article
Report of a recurrent mutation in ARS (component B) gene with severe Mal de Meleda in a large consanguineous Pakistani family.
- Published in:
- Pakistan Journal of Medical Sciences, 2011, v. 27, n. 3, p. 686
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- Publication type:
- Article
FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome.
- Published in:
- BMC Research Notes, 2011, v. 4, n. 1, p. 90, doi. 10.1186/1756-0500-4-90
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- Publication type:
- Article
Familiar Meniere's disease restricted to 1.48 Mb on chromosome 12p12.3 by allelic and haplotype association.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 12, p. 834, doi. 10.1038/jhg.2010.122
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- Publication type:
- Article
Vascular endothelial growth factor B controls endothelial fatty acid uptake.
- Published in:
- Nature, 2010, v. 464, n. 7290, p. 917, doi. 10.1038/nature08945
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- Publication type:
- Article
Cooperative effect of ribosomal protein s19 and Pim-1 kinase on murine c-Myc expression and myeloid/erythroid cellularity.
- Published in:
- Journal of Molecular Medicine, 2010, v. 88, n. 1, p. 39, doi. 10.1007/s00109-009-0558-9
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- Publication type:
- Article
WNT10A missense mutation associated with a complete Odonto-Onycho-Dermal Dysplasia syndrome.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1600, doi. 10.1038/ejhg.2009.81
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- Publication type:
- Article
Alpha-cardiac actin mutations produce atrial septal defects.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 2, p. 256, doi. 10.1093/hmg/ddm302
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- Publication type:
- Article
RAR-related orphan receptor A isoform 1 (RORa1) is disrupted by a balanced translocation t(4;15)(q22.3;q21.3) associated with severe obesity.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 8, p. 928, doi. 10.1038/sj.ejhg.5201433
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- Publication type:
- Article
Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands.
- Published in:
- Nature Genetics, 2005, v. 37, n. 2, p. 125, doi. 10.1038/ng1507
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- Publication type:
- Article
Familial transient erythroblastopenia of childhood is associated with the chromosome 19q13.2 region but not caused by mutations in coding sequences of the ribosomal protein S19 (RPS19) gene.
- Published in:
- British Journal of Haematology, 2002, v. 119, n. 1, p. 261, doi. 10.1046/j.1365-2141.2002.03776.x
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- Publication type:
- Article
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.
- Published in:
- Nature Genetics, 1999, v. 21, n. 2, p. 169, doi. 10.1038/5951
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- Publication type:
- Article