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Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.
- Published in:
- Human Genetics, 2002, v. 110, n. 2, p. 182, doi. 10.1007/s00439-001-0659-1
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- Publication type:
- Article
A novel mutation in LMX1B gene in a newborn with nail‐patella syndrome: Clinical and dermoscopic findings.
- Published in:
- Pediatric Dermatology, 2020, v. 37, n. 6, p. 1205, doi. 10.1111/pde.14337
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- Publication type:
- Article
Expert consensus guidelines for the genetic diagnosis of Alport syndrome.
- Published in:
- Pediatric Nephrology, 2019, v. 34, n. 7, p. 1175, doi. 10.1007/s00467-018-3985-4
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- Publication type:
- Article
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.
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- Pediatric Nephrology, 2011, v. 26, n. 5, p. 717, doi. 10.1007/s00467-010-1693-9
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- Publication type:
- Article
Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance.
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- Cancers, 2019, v. 11, n. 3, p. 295, doi. 10.3390/cancers11030295
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- Publication type:
- Article
Rett syndrome: Revised diagnostic criteria and nomenclature.
- Published in:
- Annals of Neurology, 2010, v. 68, n. 6, p. 944, doi. 10.1002/ana.22124
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- Publication type:
- Article
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly.
- Published in:
- 1999
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- Publication type:
- journal article
Rett syndrome: the complex nature of a monogenic disease.
- Published in:
- Journal of Molecular Medicine, 2003, v. 81, n. 6, p. 346, doi. 10.1007/s00109-003-0444-9
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- Publication type:
- Article
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.
- Published in:
- Journal of Molecular Medicine, 2001, v. 78, n. 11, p. 648, doi. 10.1007/s001090000155
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- Publication type:
- Article
The role of surgical lung biopsy in the management of interstitial lung disease: experience from a single institution in the UK.
- Published in:
- Interactive Cardiovascular & Thoracic Surgery, 2013, v. 17, n. 2, p. 253, doi. 10.1093/icvts/ivt217
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- Publication type:
- Article
Natural Course of IQSEC2 -Related Encephalopathy: An Italian National Structured Survey.
- Published in:
- Children, 2023, v. 10, n. 9, p. 1442, doi. 10.3390/children10091442
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- Publication type:
- Article
Should a syndrome be called by its correct name? The example of the preserved speech variant of Rett syndrome.
- Published in:
- 2005
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- Publication type:
- Letter
Author Correction: A glomerulus-on-a-chip to recapitulate the human glomerular filtration barrier.
- Published in:
- 2019
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- Publication type:
- Correction Notice
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.
- Published in:
- 2017
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- Publication type:
- Case Study
Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 4, p. 462, doi. 10.1111/cge.13506
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- Publication type:
- Article
Effects of the Rho GTPase‐activating toxin CNF1 on fibroblasts derived from Rett syndrome patients: A pilot study.
- Published in:
- Journal of Cellular & Molecular Medicine, 2023, v. 27, n. 10, p. 1315, doi. 10.1111/jcmm.17624
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- Publication type:
- Article
Partial silencing of methyl cytosine protein binding 2 (MECP2) in mesenchymal stem cells induces senescence with an increase in damaged DNA.
- Published in:
- FASEB Journal, 2010, v. 24, n. 5, p. 1593, doi. 10.1096/fj.09-143057
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- Publication type:
- Article
A pilot study of next generation sequencing–liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel–Trenaunay syndrome.
- Published in:
- Vascular, 2021, v. 29, n. 1, p. 85, doi. 10.1177/1708538120936421
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- Publication type:
- Article
Vitamin D and COVID-19 susceptibility and severity in the COVID-19 Host Genetics Initiative: A Mendelian randomization study.
- Published in:
- 2021
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- Publication type:
- journal article
A case report: Bone marrow mesenchymal stem cells from a rett syndrome patient are prone to senescence and show a lower degree of apoptosis.
- Published in:
- Journal of Cellular Biochemistry, 2008, v. 103, n. 6, p. 1877, doi. 10.1002/jcb.21582
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- Publication type:
- Article
Evidence of predisposing epimutation in retinoblastoma.
- Published in:
- Human Mutation, 2019, v. 40, n. 2, p. 201, doi. 10.1002/humu.23684
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- Publication type:
- Article
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.
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- Nephrology Dialysis Transplantation, 2006, v. 21, n. 3, p. 665, doi. 10.1093/ndt/gfi312
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- Publication type:
- Article
Thin glomerular basement membrane disease: clinical significance of a morphological diagnosisa collaborative study of the Italian Renal Immunopathology Group.
- Published in:
- Nephrology Dialysis Transplantation, 2005, v. 20, n. 3, p. 545
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- Publication type:
- Article
An Example of Neuro-Glial Commitment and Differentiation of Muse Stem Cells Obtained from Patients with IQSEC2 -Related Neural Disorder: A Possible New Cell-Based Disease Model.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 7, p. 977, doi. 10.3390/cells12070977
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- Publication type:
- Article
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 24, p. 4096, doi. 10.3390/cells11244096
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- Publication type:
- Article
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 7, p. 936, doi. 10.3390/brainsci11070936
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- Publication type:
- Article
Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.761264
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- Publication type:
- Article
Identification of a Novel Pathogenic Variant in the NAGLU Gene in a Child with Neurodevelopmental Delay.
- Published in:
- 2022
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- Publication type:
- Case Study
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1523, doi. 10.1038/ejhg.2015.6
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- Publication type:
- Article
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 2, p. 195, doi. 10.1038/ejhg.2014.81
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- Publication type:
- Article
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder.
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- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 361, doi. 10.1038/ejhg.2012.166
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- Publication type:
- Article
Advances in Alport syndrome diagnosis using next-generation sequencing.
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- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 50, doi. 10.1038/ejhg.2011.164
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- Publication type:
- Article
iPS cells to model CDKL5-related disorders.
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- European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1246, doi. 10.1038/ejhg.2011.131
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- Publication type:
- Article
Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis.
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- 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
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 8, p. 682, doi. 10.1038/sj.ejhg.5201198
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- Publication type:
- Article
Preserved speech variant is allelic of classic Rett syndrome.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 5, p. 325, doi. 10.1038/sj.ejhg.5200473
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- Publication type:
- Article
Superselective ophthalmic artery infusion of melphalan for intraocular retinoblastoma: preliminary results from 140 treatments.
- Published in:
- Acta Ophthalmologica (1755375X), 2013, v. 91, n. 4, p. 335, doi. 10.1111/j.1755-3768.2011.02296.x
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- Publication type:
- Article
Functional Connectivity and Genetic Profile of a "Double-Cortex"-Like Malformation.
- Published in:
- Frontiers in Integrative Neuroscience, 2018, p. 1, doi. 10.3389/fnint.2018.00022
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- Publication type:
- Article
GENETIC DISORDERS - DEVELOPMENT Autosomal-dominant Alport syndrome: Natural history of a disease due to COL4A3 or COL4A4 gene.
- Published in:
- Kidney International, 2004, v. 65, n. 5, p. 1598, doi. 10.1111/j.1523-1755.2004.00560.x
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- Publication type:
- Article
Epidermal basement membrane α5(IV) expression in females with Alport syndrome and severity of renal disease.
- Published in:
- Kidney International, 2003, v. 64, n. 5, p. 1787, doi. 10.1046/j.1523-1755.2003.00251.x
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- Publication type:
- Article
COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome.
- Published in:
- Kidney International, 2002, v. 61, n. 6, p. 1947, doi. 10.1046/j.1523-1755.2002.00379.x
- By:
- Publication type:
- Article
VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases.
- Published in:
- Internal & Emergency Medicine, 2023, v. 18, n. 3, p. 711, doi. 10.1007/s11739-023-03193-z
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- Publication type:
- Article
Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1213283
- By:
- Publication type:
- Article
Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype.
- Published in:
- Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1143795
- By:
- Publication type:
- Article
Omic Approach in Non-smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine.
- Published in:
- Cancer Research & Treatment, 2018, v. 50, n. 2, p. 356, doi. 10.4143/crt.2017.125
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- Publication type:
- Article
Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.
- Published in:
- Genes, 2023, v. 14, n. 9, p. 1686, doi. 10.3390/genes14091686
- By:
- Publication type:
- Article
Liver Involvement in Patients with Rare MBOAT7 Variants and Intellectual Disability: A Case Report and Literature Review.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder.
- Published in:
- Genes, 2022, v. 13, n. 4, p. 688, doi. 10.3390/genes13040688
- By:
- Publication type:
- Article
Autism Spectrum Disorders: Analysis of Mobile Elements at 7q11.23 Williams–Beuren Region by Comparative Genomics.
- Published in:
- Genes, 2021, v. 12, n. 10, p. 1605, doi. 10.3390/genes12101605
- By:
- Publication type:
- Article
13q Deletion Syndrome Involving RB1 : Characterization of a New Minimal Critical Region for Psychomotor Delay.
- Published in:
- Genes, 2021, v. 12, n. 9, p. 1318, doi. 10.3390/genes12091318
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- Publication type:
- Article