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Academic Journal

Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.

Subjects: MARFAN syndrome; MEDICAL genetics; MEDICAL genomics

  • Source: Genome Medicine; 12/31/2024, Vol. 16 Issue 1, p1-14, 14p

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Academic Journal

Mid- to long-term radiological and respiratory outcomes following surgery for older early-onset scoliosis patients with Marfan syndrome.

Subjects: MARFAN syndrome; PULMONARY function tests; VITAL capacity (Respiration)

  • Source: Scientific Reports; 10/10/2024, Vol. 14 Issue 1, p1-7, 7p

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Academic Journal

La Educación Física en alumnos de la enseñanza secundaria con síndrome de Marfan.

Subjects: YOUNG adults; MARFAN syndrome; PHYSICAL activity

  • Source: Retos: Nuevas Perspectivas de Educación Física, Deporte y Recreación; 2024, Vol. 60, p659-665, 7p

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Academic Journal

Safety and efficacy of the Yamane technique for intraocular three-piece lens implantation in Egyptian patients diagnosed with Marfan syndrome: a retrospective study.

Subjects: SURGICAL complications; MARFAN syndrome; EGYPTIANS

  • Source: BMC Ophthalmology; 11/5/2024, Vol. 24 Issue 1, p1-10, 10p

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Academic Journal

Spontaneous Intracranial Hypotension and Dural Ectasia in Marfan Syndrome: An Illustrative Case Successfully Treated with Steroid Therapy and Literature Review.

Subjects: MAGNETIC resonance imaging; ENCEPHALOCELE; CEREBROSPINAL fluid leak

  • Source: Brain Sciences (2076-3425); Nov2024, Vol. 14 Issue 11, p1143, 10p

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Academic Journal

Serous-Exudative Detachment and Progressive Macular Degeneration in a Patient With Kabuki and Marfan Syndrome.

Subjects: MACULAR degeneration; KABUKI syndrome; MARFAN syndrome

  • Source: Ophthalmic Surgery, Lasers & Imaging Retina; Sep2024, Vol. 55 Issue 9, p541-544, 4p

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Academic Journal

A Novel Heterozygous Intronic FBN1 Variant Contributes to Aberrant RNA Splicing in Marfan Syndrome.

Subjects: SINGLE nucleotide polymorphisms; GENETIC variation; MARFAN syndrome

  • Source: Molecular Genetics & Genomic Medicine; Sep2024, Vol. 12 Issue 9, p1-7, 7p

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Academic Journal

Management of a pregnant woman with Marfan syndrome and aortic root and aberrant right subclavian artery aneurysm: a case report.

Subjects: THORACIC aneurysms; SUBCLAVIAN artery; AORTIC rupture

  • Source: European Heart Journal Case Reports; Aug2024, Vol. 8 Issue 8, p1-6, 6p

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Academic Journal

Influence of the Nucleo-Shuttling of the ATM Protein on the Response of Skin Fibroblasts from Marfan Syndrome to Ionizing Radiation.

Subjects: ATAXIA telangiectasia mutated protein; DOUBLE-strand DNA breaks; IONIZING radiation

  • Source: International Journal of Molecular Sciences; Nov2024, Vol. 25 Issue 22, p12313, 16p

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Academic Journal

Assessment of Myocardial Fibrosis in Marfan Syndrome Using Cardiac Magnetic Resonance Imaging.

Subjects: CARDIAC magnetic resonance imaging; AORTIC valve insufficiency; VENTRICULAR ejection fraction

  • Source: Molecular Genetics & Genomic Medicine; Nov2024, Vol. 12 Issue 11, p1-8, 8p

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  • 1-10 of  22,084 results for ""MARFAN syndrome""