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Myeloproliferative Diseases as Possible Risk Factor for Development of Chronic Thromboembolic Pulmonary Hypertension—A Genetic Study.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 9, p. 3339, doi. 10.3390/ijms21093339
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- Publication type:
- Article
Germ cell mosaicism for AUTS2 exon 6 deletion.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1261, doi. 10.1002/ajmg.a.62091
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- Publication type:
- Article
A boy with Silver–Russell syndrome and Sotos syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 549, doi. 10.1002/ajmg.a.61967
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- Publication type:
- Article
Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1878, doi. 10.1002/ajmg.a.38252
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- Publication type:
- Article
DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1369, doi. 10.1002/ajmg.a.38164
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- Publication type:
- Article
Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1502, doi. 10.1002/ajmg.a.37632
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- Publication type:
- Article
Duplication Xp11.22-p14 in females: Does X-inactivation help in assessing their significance?
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 553, doi. 10.1002/ajmg.a.36897
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- Publication type:
- Article
Mosaic deletion of EXOC6B: Further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3088, doi. 10.1002/ajmg.a.36770
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- Publication type:
- Article
3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3061, doi. 10.1002/ajmg.a.36761
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- Publication type:
- Article
The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: Is it really a reversed sotos syndrome?
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2158, doi. 10.1002/ajmg.a.36046
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- Publication type:
- Article
Clinical Research in Vulnerable Populations: Variability and Focus of Institutional Review Boards’ Responses.
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- PLoS ONE, 2015, v. 10, n. 8, p. 1, doi. 10.1371/journal.pone.0135997
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- Publication type:
- Article
Mutation in BMPR2 Promoter: A ‘Second Hit’ for Manifestation of Pulmonary Arterial Hypertension?
- Published in:
- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0133042
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- Publication type:
- Article
KIT Mutation and Loss of 14q May Be Sufficient for the Development of Clinically Symptomatic Very Low-Risk GIST.
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- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0130149
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- Publication type:
- Article
Identification of a New Intronic BMPR2-Mutation and Early Diagnosis of Heritable Pulmonary Arterial Hypertension in a Large Family with Mean Clinical Follow-Up of 12 Years.
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- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0091374
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- Publication type:
- Article
Ornithine transcarbamylase (OTC) deficiency based on a hemizygous p.R277W mutation causing life-threatening hyperammonemic crisis during treatment for Hodgkin's lymphoma.
- Published in:
- 2011
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- Publication type:
- Case Study
Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension.
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- Respiratory Research, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1465-9921-14-3
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- Publication type:
- Article
Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations.
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- 2011
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- Publication type:
- journal article
<italic>FMR1</italic> expression in human granulosa cells increases with exon 1 CGG repeat length depending on ovarian reserve.
- Published in:
- Reproductive Biology & Endocrinology, 2018, v. 16, n. 1, p. N.PAG, doi. 10.1186/s12958-018-0383-5
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- Publication type:
- Article
Ornithine transcarbamylase deficiency of a male newborn with fatal outcome.
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- International Journal of Legal Medicine, 2016, v. 130, n. 3, p. 783, doi. 10.1007/s00414-015-1311-2
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- Publication type:
- Article
SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1627, doi. 10.1038/ejhg.2015.46
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- Publication type:
- Article
Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 704, doi. 10.1038/ejhg.2014.163
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- Publication type:
- Article
Testing the parents to confirm genotypes of CF patients is highly recommended: report of two cases.
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- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 417, doi. 10.1038/ejhg.2008.190
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- Publication type:
- Article
EIF2AK4 mutation as "second hit" in hereditary pulmonary arterial hypertension.
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- Respiratory Research, 2016, v. 17, p. 1, doi. 10.1186/s12931-016-0457-x
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- Publication type:
- Article
Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes.
- Published in:
- Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.660731
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- Publication type:
- Article
Identification of a transcription factor specifically expressed at the onset of leaf senescence.
- Published in:
- Planta: An International Journal of Plant Biology, 2001, v. 213, n. 3, p. 469, doi. 10.1007/s004250000512
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- Publication type:
- Article
Asymptomatic Multiple Myeloma – Molecular Background of Progression and Prognosis.
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- Clinical Lymphoma, Myeloma & Leukemia, 2017, v. 17, p. e9, doi. 10.1016/j.clml.2017.03.016
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- Publication type:
- Article
Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy.
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- Journal of Neurology, 2013, v. 260, n. 12, p. 3093, doi. 10.1007/s00415-013-7124-7
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- Publication type:
- Article
Quantitative retrospective natural history modeling for orphan drug development.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 99, doi. 10.1002/jimd.12304
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- Publication type:
- Article
Critical appraisal of genotype assessment in molybdenum cofactor deficiency.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 801, doi. 10.1007/s10545-017-0077-8
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- Publication type:
- Article
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations.
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- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 459, doi. 10.1007/s10545-014-9801-9
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- Publication type:
- Article
The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1.
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- Frontiers in Physiology, 2019, p. N.PAG, doi. 10.3389/fphys.2019.00134
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- Publication type:
- Article
Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 372, doi. 10.1002/ajmg.a.33656
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- Publication type:
- Article
First identification of Krüppel-like factor 2 mutation in heritable pulmonary arterial hypertension.
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- Clinical Science, 2017, v. 131, n. 8, p. 689, doi. 10.1042/CS20160930
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- Publication type:
- Article
Identification of genetic defects in pulmonary arterial hypertension by a new gene panel diagnostic tool.
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- Clinical Science, 2016, v. 130, n. 22, p. 2043, doi. 10.1042/CS20160531
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- Publication type:
- Article
Activation of AKT/mammalian target of rapamycin signaling in the peripheral blood of women with premature ovarian insufficiency and its correlation with FMR1 expression.
- Published in:
- Reproductive Biology & Endocrinology, 2022, v. 20, n. 1, p. 1, doi. 10.1186/s12958-022-00919-0
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- Publication type:
- Article
Activation of AKT/mammalian target of rapamycin signaling in the peripheral blood of women with premature ovarian insufficiency and its correlation with FMR1 expression.
- Published in:
- Reproductive Biology & Endocrinology, 2022, v. 20, n. 1, p. 1, doi. 10.1186/s12958-022-00919-0
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- Publication type:
- Article
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
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- Human Mutation, 2015, v. 36, n. 12, p. 1113, doi. 10.1002/humu.22904
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- Publication type:
- Article
Modified body mass index and time interval between diagnosis and operation affect survival after liver transplantation for hereditary amyloidosis: a single-center analysis.
- Published in:
- Clinical Transplantation, 2013, v. 27, p. 40, doi. 10.1111/ctr.12193
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- Publication type:
- Article
Compilation of Genotype and Phenotype Data in GCDH -LOVD for Variant Classification and Further Application.
- Published in:
- Genes, 2023, v. 14, n. 12, p. 2218, doi. 10.3390/genes14122218
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- Publication type:
- Article
Reduction of BMPR2 mRNA Expression in Peripheral Blood of Pulmonary Arterial Hypertension Patients: A Marker for Disease Severity?
- Published in:
- Genes, 2022, v. 13, n. 5, p. 759, doi. 10.3390/genes13050759
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- Publication type:
- Article
Expression of FMRpolyG in Peripheral Blood Mononuclear Cells of Women with Fragile X Mental Retardation 1 Gene Premutation.
- Published in:
- Genes, 2022, v. 13, n. 3, p. 451, doi. 10.3390/genes13030451
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- Publication type:
- Article
BMPR2 Promoter Variants Effect Gene Expression in Pulmonary Arterial Hypertension Patients.
- Published in:
- Genes, 2020, v. 11, n. 10, p. 1168, doi. 10.3390/genes11101168
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- Publication type:
- Article
Regulation of Bone Morphogenetic Protein Receptor Type II Expression by FMR1 /Fragile X Mental Retardation Protein in Human Granulosa Cells in the Context of Poor Ovarian Response.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 19, p. 10643, doi. 10.3390/ijms251910643
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- Publication type:
- Article
Is iron deficiency caused by BMPR2 mutations or dysfunction in pulmonary arterial hypertension patients?
- Published in:
- Pulmonary Circulation, 2023, v. 13, n. 2, p. 1, doi. 10.1002/pul2.12242
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- Publication type:
- Article
Mutually reinforcing effects of genetic variants and interferon‐β 1a therapy for pulmonary arterial hypertension development in multiple sclerosis patients.
- Published in:
- Pulmonary Circulation, 2019, v. 9, n. 3, p. 1, doi. 10.1177/2045894019872192
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- Publication type:
- Article