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TACI variants as underlying condition in autoimmune neutropenia: Description of four cases.
- Published in:
- American Journal of Hematology, 2022, v. 97, n. 9, p. E328, doi. 10.1002/ajh.26625
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- Publication type:
- Article
Genetic screening of children with marrow failure. The role of primary Immunodeficiencies.
- Published in:
- American Journal of Hematology, 2021, v. 96, n. 9, p. 1077, doi. 10.1002/ajh.26242
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- Publication type:
- Article
Glomerulocystic kidney disease in a family.
- Published in:
- Nephrology Dialysis Transplantation, 2002, v. 17, n. 5, p. 813, doi. 10.1093/ndt/17.5.813
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- Publication type:
- Article
Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report.
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- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.893000
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- Publication type:
- Article
Underlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre Analysis.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.869033
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- Publication type:
- Article
Case Report: Atypical Manifestations Associated With FOXP3 Mutations. The "Fil Rouge" of Treg Between IPEX Features and Other Clinical Entities?
- Published in:
- 2022
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- Publication type:
- Case Study
Congenital anomalies of the kidney and urinary tract in a cohort of 280 consecutive patients with Hirschsprung disease.
- Published in:
- Pediatric Nephrology, 2021, v. 36, n. 10, p. 3151, doi. 10.1007/s00467-021-05061-4
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- Publication type:
- Article
Failure of tocilizumab treatment in a CINCA patient: clinical and pathogenic implications.
- Published in:
- 2013
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- Publication type:
- Journal Article
Failure of tocilizumab treatment in a CINCA patient: clinical and pathogenic implications.
- Published in:
- Rheumatology, 2013, v. 52, n. 9, p. 1731, doi. 10.1093/rheumatology/ket121
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- Publication type:
- Article
An autoinflammatory neurological disease due to interleukin 6 hypersecretion.
- Published in:
- Journal of Neuroinflammation, 2013, v. 10, n. 1, p. 1, doi. 10.1186/1742-2094-10-29
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- Publication type:
- Article
An autoinflammatory neurological disease due to interleukin 6 hypersecretion.
- Published in:
- 2013
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- Publication type:
- journal article
Seropositive polyarthritis and diffuse lymphadenopathy associated with PRKCD mutation.
- Published in:
- 2024
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- Publication type:
- Case Study
challenge of early diagnosis of autoimmune lymphoproliferative syndrome in children with suspected autoinflammatory/autoimmune disorders.
- Published in:
- Rheumatology, 2022, v. 61, n. 2, p. 696, doi. 10.1093/rheumatology/keab361
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- Publication type:
- Article
Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers.
- Published in:
- 2020
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- Publication type:
- Correction Notice
Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers.
- Published in:
- Rheumatology, 2020, v. 59, n. 2, p. 344, doi. 10.1093/rheumatology/kez270
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- Publication type:
- Article
Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 13, p. 1815, doi. 10.1093/hmg/ddi188
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- Publication type:
- Article
Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 4, p. 2083, doi. 10.3390/ijms25042083
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- Publication type:
- Article
Autoimmune Neutropenia and Immune-Dysregulation in a Patient Carrying a TINF2 Variant.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 23, p. 14535, doi. 10.3390/ijms232314535
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- Publication type:
- Article
Exploration of Tools for the Interpretation of Human Non-Coding Variants.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 21, p. 12977, doi. 10.3390/ijms232112977
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- Publication type:
- Article
The OSMR Gene Is Involved in Hirschsprung Associated Enterocolitis Susceptibility through an Altered Downstream Signaling.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 8, p. 3831, doi. 10.3390/ijms22083831
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- Publication type:
- Article
Custom Array Comparative Genomic Hybridization: the Importance of DNA Quality, an Expert Eye, and Variant Validation.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 3, p. 609, doi. 10.3390/ijms18030609
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- Publication type:
- Article
Germ Line Mutations of the ret Proto-oncogene in Japanese Patients with Multiple Endocrine Neoplasia Type 2A and Type 2B.
- Published in:
- Cancer Science, 1994, v. 85, n. 9, p. 879, doi. 10.1111/j.1349-7006.1994.tb02962.x
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- Publication type:
- Article
Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicism.
- Published in:
- Pediatric Pulmonology, 2014, v. 49, n. 3, p. E45, doi. 10.1002/ppul.22790
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- Publication type:
- Article
Congenital central hypoventilation syndrome from past to future: Model for translational and transitional autonomic medicine.
- Published in:
- Pediatric Pulmonology, 2009, v. 44, n. 6, p. 521, doi. 10.1002/ppul.21045
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- Publication type:
- Article
A novel missense mutation in the PHOX2Bgene is associated with late onset central hypoventilation syndrome.
- Published in:
- Pediatric Pulmonology, 2008, v. 43, n. 10, p. 1036, doi. 10.1002/ppul.20892
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- Publication type:
- Article
PHOX2B mutations and genetic predisposition to neuroblastoma.
- Published in:
- Oncogene, 2005, v. 24, n. 18, p. 3050, doi. 10.1038/sj.onc.1208532
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- Publication type:
- Article
A Novel Mutation of GFAP Causing Adult-Onset Alexander Disease.
- Published in:
- Frontiers in Neurology, 2019, v. 10, p. 1, doi. 10.3389/fneur.2019.01124
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- Publication type:
- Article
Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic TREX1 Missense Variants Affecting the Catalytic Core.
- Published in:
- Genes, 2022, v. 13, n. 7, p. 1179, doi. 10.3390/genes13071179
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- Publication type:
- Article
The Genetic Landscape of Patent Foramen Ovale: A Systematic Review.
- Published in:
- Genes, 2021, v. 12, n. 12, p. 1953, doi. 10.3390/genes12121953
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- Publication type:
- Article
Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.
- Published in:
- Genes, 2021, v. 12, n. 9, p. 1299, doi. 10.3390/genes12091299
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- Publication type:
- Article
A Workflow for Selection of Single Nucleotide Polymorphic Markers for Studying of Genetics of Ischemic Stroke Outcomes.
- Published in:
- Genes, 2021, v. 12, n. 3, p. 328, doi. 10.3390/genes12030328
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- Publication type:
- Article
Alexander Disease Modeling in Zebrafish: An In Vivo System Suitable to Perform Drug Screening.
- Published in:
- Genes, 2020, v. 11, n. 12, p. 1490, doi. 10.3390/genes11121490
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- Publication type:
- Article
Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 917, doi. 10.1038/ejhg.2012.35
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- Publication type:
- Article
Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11).
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 483, doi. 10.1038/ejhg.2008.191
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- Publication type:
- Article
Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 4, p. 462, doi. 10.1038/sj.ejhg.5201995
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- Publication type:
- Article
Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes.
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- European Journal of Human Genetics, 2007, v. 15, n. 8, p. 848, doi. 10.1038/sj.ejhg.5201852
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- Publication type:
- Article
MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 3, p. 314, doi. 10.1038/sj.ejhg.5201323
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- Publication type:
- Article
Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 8, p. 604, doi. 10.1038/sj.ejhg.5201199
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- Publication type:
- Article
A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 9, p. 721, doi. 10.1038/sj.ejhg.5200521
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- Publication type:
- Article
Recent advances in the developmental origin of neuroblastoma: an overview.
- Published in:
- Journal of Experimental & Clinical Cancer Research (17569966), 2022, v. 41, n. 1, p. 1, doi. 10.1186/s13046-022-02281-w
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- Publication type:
- Article
Impact of MEFV genotype in Caucasian children with periodic fever.
- Published in:
- 2011
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- Publication type:
- Abstract
A validation of diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in Turkish children.
- Published in:
- 2011
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- Publication type:
- Abstract
Multidisciplinary study of sudden unexpected infant death in Liguria (Italy): a nine-year report.
- Published in:
- Minerva Pediatrics, 2021, v. 73, n. 5, p. 435, doi. 10.23736/S2724-5276.20.05599-1
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- Publication type:
- Article
Pyogenic Arthritis, Pyoderma Gangrenosum, Acne, and Hidradenitis Suppurativa (PAPASH): A New Autoinflammatory Syndrome Associated With a Novel Mutation of the PSTPIP1 Gene.
- Published in:
- JAMA Dermatology, 2013, v. 149, n. 6, p. 762, doi. 10.1001/jamadermatol.2013.2907
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- Publication type:
- Article
Novel ACTG2 variants disclose allelic heterogeneity and bi‐allelic inheritance in pediatric chronic intestinal pseudo‐obstruction.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 3, p. 430, doi. 10.1111/cge.13895
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- Publication type:
- Article
Causative and common PHOX2B variants define a broad phenotypic spectrum.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 1, p. 103, doi. 10.1111/cge.13633
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- Publication type:
- Article
ADA2 deficiency due to a novel structural variation in 22q11.1.
- Published in:
- 2019
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- Publication type:
- Letter to the Editor
A Novel Polymorphic AP-1 Binding Element of the GFAP Promoter is Associated with Different Allelic Transcriptional Activities.
- Published in:
- Annals of Human Genetics, 2010, v. 74, n. 6, p. 506, doi. 10.1111/j.1469-1809.2010.00614.x
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- Publication type:
- Article
A case report of a novel compound heterozygous mutation in a Brazilian patient with deficiency of Interleukin-1 receptor antagonist (DIRA).
- Published in:
- Pediatric Rheumatology, 2020, v. 18, n. 1, p. N.PAG, doi. 10.1186/s12969-020-00454-5
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- Publication type:
- Article
Recessive NLRC4-Autoinflammatory Disease Reveals an Ulcerative Colitis Locus.
- Published in:
- Journal of Clinical Immunology, 2022, v. 42, n. 2, p. 325, doi. 10.1007/s10875-021-01175-4
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- Publication type:
- Article