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A Scoring System to Predict the Severity of Hirschsprung Disease at Diagnosis and Its Correlation With Molecular Genetics.
- Published in:
- Pediatric & Developmental Pathology, 2017, v. 30, n. 1, p. 28, doi. 10.1177/1093526616683883
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- Article
Pathways systematically associated to Hirschsprung's disease.
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- 2013
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- Publication type:
- journal article
Clinical and Technical Overview of Preimplantation Genetic Diagnosis for Fragile X Syndrome: Experience at the University Hospital Virgen del Rocio in Spain.
- Published in:
- BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/965839
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- Article
Interstitial 10p deletion derived from a maternal ins(16;10)(q22;p13p15.2): Report of the first familial case of 10p monosomy affecting to two familial members of different generations.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1268, doi. 10.1002/ajmg.a.37559
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- Article
Waardenburg syndrome type 4: Report of two new cases caused by SOX 10 mutations in Spain.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 542, doi. 10.1002/ajmg.a.36302
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- Article
Association of X-linked hydrocephalus and Hirschsprung disease: Report of a new patient with a mutation in the L1CAM gene.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 816, doi. 10.1002/ajmg.a.35244
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- Article
Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease.
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- Scientific Reports, 2015, p. 16473, doi. 10.1038/srep16473
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- Article
Mutational Spectrum of Semaphorin 3A and Semaphorin 3D Genes in Spanish Hirschsprung patients.
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- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0054800
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- Article
Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung's disease.
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- Journal of Molecular Medicine, 2011, v. 89, n. 5, p. 471, doi. 10.1007/s00109-010-0714-2
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- Article
Involvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patient.
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- Journal of Molecular Medicine, 2010, v. 88, n. 5, p. 507, doi. 10.1007/s00109-010-0592-7
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- Article
ESR2 Gene and Medullary Thyroid Carcinoma.
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- Thyroid, 2017, v. 27, n. 11, p. 1456, doi. 10.1089/thy.2017.0171
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- Article
G534E Variant in HABP2 and Nonmedullary Thyroid Cancer.
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- Thyroid, 2016, v. 26, n. 7, p. 987, doi. 10.1089/thy.2016.0193
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- Article
The Transcription Factor FEZF1 , a Direct Target of EWSR1-FLI1 in Ewing Sarcoma Cells, Regulates the Expression of Neural-Specific Genes.
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- Cancers, 2021, v. 13, n. 22, p. 5668, doi. 10.3390/cancers13225668
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- Article
Therapeutic Potential of EWSR1–FLI1 Inactivation by CRISPR/Cas9 in Ewing Sarcoma.
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- Cancers, 2021, v. 13, n. 15, p. 3783, doi. 10.3390/cancers13153783
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- Article
Identification of a novel mutation in FGFR1 gene in mother and daughter with Kallmann syndrome.
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- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 10, p. 1306, doi. 10.1515/jpem-2021-0730
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- Article
Identification of epistatic interactions through genome-wide association studies in sporadic medullary and juvenile papillary thyroid carcinomas.
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- BMC Medical Genomics, 2015, v. 8, p. 1, doi. 10.1186/s12920-015-0160-7
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- Article
Co-segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient.
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- Clinical Case Reports, 2016, v. 4, n. 9, p. 879, doi. 10.1002/ccr3.645
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- Article
Integrating Open-Source Datasets to Analyze the Transboundary Water–Food–Energy–Climate Nexus in Central Asia.
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- Water (20734441), 2023, v. 15, n. 19, p. 3482, doi. 10.3390/w15193482
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- Article
What is new about the genetic background of Hirschsprung disease?
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- Clinical Genetics, 2020, v. 97, n. 1, p. 114, doi. 10.1111/cge.13615
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- Article
The RETFunctional Variant c*587T>C is Not Associated with Susceptibility to Sporadic Medullary Thyroid Cancer.
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- Thyroid, 2009, v. 19, n. 9, p. 1017
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- Article
Analysis of RET Polymorphisms and Haplotypes in the Context of Sporadic Medullary Thyroid Carcinoma.
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- Thyroid, 2006, v. 16, n. 4, p. 411, doi. 10.1089/thy.2006.16.411
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- Article
Evaluation of Germline Sequence Variants of GFRA1, GFRA2, and GFRA3 Genes in a Cohort of Spanish Patients with Sporadic Medullary Thyroid Cancer.
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- Thyroid, 2002, v. 12, n. 11, p. 1017, doi. 10.1089/105072502320908367
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- Article
CD44 In Sarcomas: A Comprehensive Review and Future Perspectives.
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- Frontiers in Oncology, 2022, v. 12, p. 1, doi. 10.3389/fonc.2022.909450
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- Article
CD44 Modulates Cell Migration and Invasion in Ewing Sarcoma Cells.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 14, p. 11774, doi. 10.3390/ijms241411774
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- Article
The RET C620S mutation causes multiple endocrine neoplasia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypes(Communicated by Sergio Ottolenghi).
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- Human Mutation, 2003, v. 22, n. 5, p. 412
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- Article
Experience of Preimplantation Genetic Diagnosis for Hemophilia at the University Hospital Virgen Del Rocío in Spain: Technical and Clinical Overview.
- Published in:
- 2015
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- Publication type:
- journal article
Novel One-Step Multiplex PCR-Based Method for HLA Typing and Preimplantational Genetic Diagnosis of β-Thalassemia.
- Published in:
- BioMed Research International, 2013, v. 2013, p. 1, doi. 10.1155/2013/585106
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- Publication type:
- Article
Germline sequence variant S836S in the RET proto-oncogene is associated with low level predisposition to sporadic medullary thyroid carcinoma in the Spanish population.
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- Clinical Endocrinology, 2001, v. 55, n. 3, p. 399, doi. 10.1046/j.1365-2265.2001.01328.x
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- Article
Pharmacological Characterization of the Mechanisms Involved in Delayed Calcium Deregulation in SH-SY5Y Cells Challenged with Methadone.
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- International Journal of Cell Biology, 2012, p. 1, doi. 10.1155/2012/642482
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- Article
Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region.
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- BMC Medical Genetics, 2010, v. 11, p. 137, doi. 10.1186/1471-2350-11-137
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- Article
Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease.
- Published in:
- BMC Medical Genetics, 2010, v. 11, p. 71, doi. 10.1186/1471-2350-11-71
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- Publication type:
- Article