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Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,XXX): Results from the InsighTS Registry.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63819
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- Article
Congenital Symmastia: A Four-Step, Minimally Invasive Approach.
- Published in:
- Indian Journal of Plastic Surgery, 2020, v. 53, n. 1, p. 140, doi. 10.1055/s-0040-1710087
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- Article
The guidelines for social life cycle assessment of products: just in time!
- Published in:
- International Journal of Life Cycle Assessment, 2010, v. 15, n. 2, p. 156, doi. 10.1007/s11367-009-0147-8
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- Article
Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1406
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- Article
Pacemaker Endocarditis Viewed via Intracardiac Ultrasonography.
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- Texas Heart Institute Journal, 2008, v. 35, n. 4, p. 487
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- Article
The impact of somatic mosaicism on bicuspid aortic valve and aortic dissection in Turner Syndrome.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 1, p. 7, doi. 10.1002/ajmg.c.31691
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- Article
The Turner syndrome research registry: Creating equipoise between investigators and participants.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 1, p. 135, doi. 10.1002/ajmg.c.31689
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- Publication type:
- Article
"Donating our bodies to science": A discussion about autopsy and organ donation in Turner syndrome.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 1, p. 36, doi. 10.1002/ajmg.c.31671
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- Publication type:
- Article
X‐linked genetic associations in sporadic thoracic aortic dissection.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63644
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- Publication type:
- Article
Inspiring New Science to Guide Healthcare in Turner Syndrome: Rationale, design, and methods for the InsighTS Registry.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 311, doi. 10.1002/ajmg.a.63441
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- Publication type:
- Article
Aortic root dilatation and dilated cardiomyopathy in an adult with Tatton‐Brown‐Rahman syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 628, doi. 10.1002/ajmg.a.62541
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- Publication type:
- Article
Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 1987, doi. 10.1002/ajmg.a.61310
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- Publication type:
- Article
Allometric considerations when assessing aortic aneurysms in Turner syndrome: Implications for activity recommendations and medical decision‐making.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 277, doi. 10.1002/ajmg.a.38584
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- Publication type:
- Article
Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2176, doi. 10.1002/ajmg.a.38309
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- Publication type:
- Article
Turner syndrome-specific and general population Z-scores are equivalent for most adults with Turner syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1094, doi. 10.1002/ajmg.a.38100
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- Publication type:
- Article
Autosomal and X Chromosome Structural Variants Are Associated with Congenital Heart Defects in Turner Syndrome: The NHLBI GenTAC Registry.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3157, doi. 10.1002/ajmg.a.37953
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- Article
Proceedings from the Turner Resource Network symposium: The crossroads of health care research and health care delivery.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 1962, doi. 10.1002/ajmg.a.37121
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- Publication type:
- Article
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 8, p. 916, doi. 10.1038/ng.2348
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- Article
Maternal and fetal outcomes of bicuspid aortic valve with early-onset complications.
- Published in:
- 2023
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- Publication type:
- journal article
Refining the course: long-term outcome in patients with bicuspid aortic valve.
- Published in:
- European Heart Journal, 2023, v. 44, n. 43, p. 4563, doi. 10.1093/eurheartj/ehad621
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- Publication type:
- Article
Summary: international consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes.
- Published in:
- European Journal of Cardio-Thoracic Surgery, 2021, v. 60, n. 3, p. 481, doi. 10.1093/ejcts/ezab039
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- Publication type:
- Article
International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes.
- Published in:
- European Journal of Cardio-Thoracic Surgery, 2021, v. 60, n. 3, p. 448, doi. 10.1093/ejcts/ezab038
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- Publication type:
- Article
Biomechanical Evaluation of Aortic Valve Stenosis by Means of a Virtual Stress Test: A Fluid–Structure Interaction Study.
- Published in:
- Annals of Biomedical Engineering, 2024, v. 52, n. 2, p. 414, doi. 10.1007/s10439-023-03389-6
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- Publication type:
- Article
That's Not Fair: Tariff Structures for Electric Utilities with Rooftop Solar.
- Published in:
- M&SOM: Manufacturing & Service Operations Management, 2022, v. 24, n. 1, p. 40, doi. 10.1287/msom.2020.0930
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- Publication type:
- Article
Methodological advances in patient-centered rare disease research: the UTHealth Houston Turner Syndrome Society of the United States research registry.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03120-1
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- Publication type:
- Article
Clinical practice guidelines for the care of girls and women with Turner syndrome: Proceedings from the 2023 Aarhus International Turner Syndrome Meeting.
- Published in:
- European Journal of Endocrinology, 2024, v. 190, n. 6, p. G53, doi. 10.1093/ejendo/lvae050
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- Publication type:
- Article
FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.
- Published in:
- 2016
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- Publication type:
- journal article
Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve.
- Published in:
- Nature Communications, 2017, v. 8, n. 5, p. 15481, doi. 10.1038/ncomms15481
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- Publication type:
- Article
Vertebral Tortuosity Is Associated With Increased Rate of Cardiovascular Events in Vascular Ehlers-Danlos Syndrome.
- Published in:
- Journal of the American Heart Association, 2023, v. 12, n. 19, p. 1, doi. 10.1161/JAHA.123.029518
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- Publication type:
- Article
Aortic Complications Associated With Pregnancy in Marfan Syndrome: The NHLBI National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC).
- Published in:
- 2016
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- Publication type:
- journal article
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 15, p. 3345, doi. 10.1093/hmg/dds166
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- Publication type:
- Article
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 10, p. 1975, doi. 10.1093/hmg/ddr078
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- Publication type:
- Article
Recurrent Rare Genomic Copy Number Variants and Bicuspid Aortic Valve Are Enriched in Early Onset Thoracic Aortic Aneurysms and Dissections.
- Published in:
- PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0153543
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- Publication type:
- Article
Analysis of Mid1, Hccs, Arhgap6, and Msl3l1 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice.
- Published in:
- Mammalian Genome, 2001, v. 12, n. 10, p. 796, doi. 10.1007/s00335-001-1006-5
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- Publication type:
- Article
Resumen: Consenso internacional para la nomenclatura y clasificación de la válvula aórtica bicúspide congénita y su aortopatía, con fines clínicos, quirúrgicos, intervencionistas y de investigación.
- Published in:
- Archivos de Cardiología de México (English ed Internet), 2024, v. 94, n. 2, p. 219, doi. 10.24875/ACM.24000002
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- Publication type:
- Article
Misclassification of bicuspid aortic valves is common and varies by imaging modality and patient characteristics.
- Published in:
- Echocardiography, 2019, v. 36, n. 4, p. 761, doi. 10.1111/echo.14295
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- Publication type:
- Article
Bicuspid and unicuspid aortic valves: Different phenotypes of the same disease? Insight from the GenTAC Registry.
- Published in:
- Congenital Heart Disease, 2017, v. 12, n. 6, p. 740, doi. 10.1111/chd.12520
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- Publication type:
- Article
Recurrent Chromosome 16p13.1 Duplications Are a Risk Factor for Aortic Dissections.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 6, p. 1, doi. 10.1371/journal.pgen.1002118
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- Publication type:
- Article
Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant micro-phthalmia with linear skin defects (MLS) syndrome.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 25, p. 3237, doi. 10.1093/hmg/11.25.3237
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- Publication type:
- Article
Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 4, p. 477, doi. 10.1093/hmg/9.4.477
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- Publication type:
- Article
Risk Factors for Thoracic Aortic Dissection.
- Published in:
- Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101814
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- Publication type:
- Article
Real‐time delay announcement under competition.
- Published in:
- Production & Operations Management, 2023, v. 32, n. 3, p. 863, doi. 10.1111/poms.13903
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- Publication type:
- Article
Hidden Y Chromosome Material and Congenital Cardiovascular Malformations in a Cohort of Turner Syndrome Patients with 45,X Blood Karyotype.
- Published in:
- Cytogenetic & Genome Research, 2024, v. 163, n. 5/6, p. 290, doi. 10.1159/000535771
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- Publication type:
- Article
An unusual cause of acute pericarditis: a case report.
- Published in:
- 2021
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- Publication type:
- Case Study
Nasolabial Perforator Flap for One-stage Reconstruction of Nasal Defects.
- Published in:
- Journal of Cutaneous & Aesthetic Surgery, 2017, v. 10, n. 1, p. 22, doi. 10.4103/0974-2077.204576
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- Publication type:
- Article
Resumen: Consenso internacional para la nomenclatura y clasificación de la válvula aórtica bicúspide congénita y su aortopatía, con fines clínicos, quirúrgicos, intervencionistas y de investigación.
- Published in:
- Archivos de Cardiología de México, 2024, v. 94, n. 2, p. 219, doi. 10.24875/ACM.24000002
- By:
- Publication type:
- Article
An unusual case of knee monoarthritis.
- Published in:
- International Journal of Rheumatic Diseases, 2009, v. 12, n. 2, p. 158, doi. 10.1111/j.1756-185X.2009.01398.x
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- Publication type:
- Article