• A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm
• A Case of Stanford Type A Aortic Dissection Complaining Only of Headache With a History of Migraine
• A comparison of the Ghent and revised Ghent nosologies for the diagnosis of Marfan syndrome in an adult Korean population
• Acute psychosis in an adolescent with undiagnosed homocystinuria
• Adrenocortical function in children with connective tissue syndromes and funnel chest deformation
• Analysis of GPR126 polymorphisms and their relationship with scoliosis in Marfan syndrome and Marfan-like syndrome in Mexican patients
• Anesthetic management of a child with Loeys-Dietz syndrome undergoing complete aortic arch replacement
• Aortic disease in Marfan syndrome is caused by overactivation of sGC-PRKG signaling by NO
• Aortic dissection in four cats: clinicopathological correlations
• Aortic dissection in Turner syndrome
• Aortic involvement in rheumatic diseases
• Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory
• Asperger's syndrome and ligamentous laxity
• Augmentation index and the evolution of aortic disease in marfan-like syndromes
• Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes
• Cardiovascular manifestations of hereditary dysplasias of connective tissue
• Catheter ablation for atrial fibrillation in patients with the Marfan and Marfan-like syndromes
• Classical familial homocystinuria in an adult presenting as an isolated lens subluxation
• Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy
• Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation
• Coexistence of Marfan-like Connective Tissue Disease with Morphologic Left Ventricular Non-compaction
• Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders
• Compound Heterozygous LTBP2 Mutations Associated With Juvenile-Onset Open-Angle Glaucoma and Marfan-Like Phenotype
• CSF neurotransmitter studies. An infant with ascorbic acid-responsive tyrosinemia
• Defective expression of HLA class I and CD1a molecules in boy with Marfan-like phenotype and deep skin ulcers
• Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation
• Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy
• Detection of ten novel FBN1 mutations in Chinese patients with typical or incomplete Marfan syndrome and an overview of the genotype-phenotype correlations
• Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy
• Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2
• Early diagnosis of progression of funnel chest in children
• EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder
• Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype
• Familial high myopia: evidence of an autosomal dominant mode of inheritance and genetic heterogeneity
• Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly
• Genetic testing of the FBN1 gene in Chinese patients with Marfan/Marfan-like syndrome
• Genetics of hereditary cardiopathies
• Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations
• Homozygous deletion of exons 2-7 within TGFB3 gene in a child with severe Loeys-Dietz syndrome and Marfan-like features
• Human Marfan and Marfan-like Syndrome associated mutations lead to altered trafficking of the Type II TGFbeta receptor in Caenorhabditis elegans
• Human Marfan and Marfan-like Syndrome associated mutations lead to altered trafficking of the Type II TGFβ receptor in Caenorhabditis elegans
• Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients
• Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes
• Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies
• Juvenile neurogenic muscle atrophy with lysosomal enzyme deficiencies: new disease or variant of mucopolysaccharidosis?
• Left subclavian artery dissection associated with connective tissue abnormalities resembling Marfan-like syndrome in an English bulldog
• Loeys-Dietz syndrome with acute myeloid leukemia
• Loeys-Dietz syndrome: a Marfan-like syndrome associated with aggressive vasculopathy
• LRP1 functions as an atheroprotective integrator of TGFbeta and PDFG signals in the vascular wall: implications for Marfan syndrome
• LRP1 regulates architecture of the vascular wall by controlling PDGFRbeta-dependent phosphatidylinositol 3-kinase activation
• LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma
• LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant
• Marfan syndrome and the evolving spectrum of heritable thoracic aortic disease: do we need genetics for clinical decisions?
• Marfan syndrome or Marfan-like connective-tissue disorder
• Marfan-like aortic aneurysm syndrome; A surgical experience with Loeys-Dietz syndrome
• Marfan-like features and congenital contractural arachnodactyly
• Marfan-like habitus and familial adenomatous polyposis in two unrelated males: a significant association?
• Marfan-like skeletal phenotype in the tight skin (Tsk) mouse
• Marfan-like syndrome with lens involvement. Hyaloideoretinal degeneration with anterior chamber angle, facial, dental, and skeletal anomalies
• Marfan's or Marfan-like syndrome: value of echocardiography
• Medullary carcinoma of the thyroid with Marfan-like body habitus
• Metacarpophalangeal pattern profile in Marfan syndrome and Marfan-like patients
• Mitral valve prolapse syndrome and MASS phenotype: Stability of aortic dilatation but progression of mitral valve prolapse
• Multiple endocrine neoplasia type 2b in twins
• Multiple endocrine neoplasms type 2. Recent aspects
• Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells
• New Screening Tool for Aortic Root Dilation in Children with Marfan Syndrome and Marfan-Like Disorders
• Phenotype presentation for a novel mutation affecting a conserved cysteine residue in exon 63 of fibrillin-1 (Cys2633Arg)
• Phenotypic heterogeneity of Marfan-like connective tissue disorders associated with mutations in the transforming growth factor-beta receptor genes
• Rare complications of infective endocarditis in marfan-like morphotype: diagnosis of multiple mitral valve aneurysms and aortic root abscess using three-dimensional transesophageal echocardiography
• Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections
• ROLE OF TGFbeta-INDUCTION AND GASTROINTESTINAL MYOFIBROBLASTS IN PATHOMORPHOGENESIS OF CHRONIC GASTRITIS IN PATIENTS WITH MARFAN SYNDROME AND MARFAN-LIKE STATES
• ROLE OF TGFβ-INDUCTION AND GASTROINTESTINAL MYOFIBROBLASTS IN PATHOMORPHOGENESIS OF CHRONIC GASTRITIS IN PATIENTS WITH MARFAN SYNDROME AND MARFAN-LIKE STATES
• Seizures as an Atypical Feature of Beal's Syndrome
• Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2
• Targeted next-generation sequencing reveals the genetic mechanism of Chinese Marfan syndrome cohort with ocular manifestation
• TGFBR3 variation is not a common cause of Marfan-like syndrome and Loeys-Dietz-like syndrome
• The effect of collagen-normalizing therapy on the incidence and severity of anesthetic and postoperative complications in children with connective tissue syndromes
• The FBN1 (R2726W) mutation is not fully penetrant
• The molecular genetics of Marfan syndrome and related microfibrillopathies
• The roles of two novel FBN1 gene mutations in the genotype-phenotype correlations of Marfan syndrome and ectopia lentis patients with marfanoid habitus
• The significance of genetic contributions and markers in disorders of spinal structure
• The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome
• Type-2B multiple endocrine neoplasms with diffuse liver metastases as the cause of chronic diarrhea
• Untreated homocystinuria in adulthood
• Well-functioning double-orifice mitral valve in a young woman with Marfan-like habitus and atrial tachycardia