syndrome The revised Ghent nosology for the Marfan

[1]  Robert K. Yu,et al.  Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. , 2009, American journal of human genetics.

[2]  P. Reix,et al.  New surfactant protein C gene mutations associated with diffuse lung disease , 2009, Journal of Medical Genetics.

[3]  T. Morisaki,et al.  Characteristics in phenotypic manifestations of genetically proved Marfan syndrome in a Japanese population. , 2009, The American journal of cardiology.

[4]  O. Gabrielli,et al.  Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature , 2009, Human mutation.

[5]  S. Leal,et al.  A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis. , 2009, American journal of human genetics.

[6]  P. Robinson,et al.  Clinical and Molecular Study of 320 Children With Marfan Syndrome and Related Type I Fibrillinopathies in a Series of 1009 Probands With Pathogenic FBN1 Mutations , 2009, Pediatrics.

[7]  P. Robinson,et al.  The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome , 2008, American journal of medical genetics. Part A.

[8]  C. Junien,et al.  Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype‐phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys‐Dietz syndrome and related disorders , 2008, Human mutation.

[9]  Daniel S Berman,et al.  Assessment of the thoracic aorta by multidetector computed tomography: age- and sex-specific reference values in adults without evident cardiovascular disease. , 2008, Journal of cardiovascular computed tomography.

[10]  Benjamin S. Brooke,et al.  Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. , 2008, The New England journal of medicine.

[11]  E. Arbustini,et al.  Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands , 2008, Journal of Medical Genetics.

[12]  S. Nik-Zainal,et al.  Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families , 2008, Human mutation.

[13]  Robert K. Yu,et al.  Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections , 2007, Nature Genetics.

[14]  A. Dart,et al.  Effect of perindopril on large artery stiffness and aortic root diameter in patients with Marfan syndrome: a randomized controlled trial. , 2007, JAMA.

[15]  S. Colan,et al.  Rationale and design of a randomized clinical trial of beta-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome. , 2007, American heart journal.

[16]  M Claustres,et al.  Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. , 2007, American journal of human genetics.

[17]  H. Dietz,et al.  Familial thoracic aortic dilation and bicommissural aortic valve: A prospective analysis of natural history and inheritance , 2007, American journal of medical genetics. Part A.

[18]  A. De Paepe,et al.  Three arginine to cysteine substitutions in the pro‐alpha (I)‐collagen chain cause Ehlers‐Danlos syndrome with a propensity to arterial rupture in early adulthood , 2007, Human mutation.

[19]  R. Hinton,et al.  Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations , 2007, Human Genetics.

[20]  A. Frydrychowicz,et al.  Evaluation of three different measurement methods for dural ectasia in Marfan syndrome. , 2006, Clinical radiology.

[21]  H. Dietz,et al.  Structural and Functional Genetic Disorders of the Great Vessels and Outflow Tracts , 2006, Annals of the New York Academy of Sciences.

[22]  M. Movahed,et al.  Echocardiographic prevalence of bicuspid aortic valve in the population. , 2006, Heart, lung & circulation.

[23]  George H. Thomas,et al.  Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor , 2006 .

[24]  K. Rommel,et al.  TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys‐Dietz syndrome , 2006, Human mutation.

[25]  H. Dietz,et al.  A critical analysis of minor cardiovascular criteria in the diagnostic evaluation of patients with Marfan syndrome , 2006, Genetics in Medicine.

[26]  Marc K. Halushka,et al.  Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a Mouse Model of Marfan Syndrome , 2006, Science.

[27]  H. Dietz,et al.  Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome , 2006, Nature Genetics.

[28]  Kevin B. Jones,et al.  Protrusio acetabuli in Marfan syndrome: age-related prevalence and associated hip function. , 2006, The Journal of bone and joint surgery. American volume.

[29]  A. Lalande,et al.  Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus , 2006, Nature Genetics.

[30]  Wolfram Kress,et al.  A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2 , 2005, Nature Genetics.

[31]  C. Catsman-Berrevoets,et al.  Three new families with arterial tortuosity syndrome , 2004, American journal of medical genetics. Part A.

[32]  A. Munnich,et al.  ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. , 2004, American journal of human genetics.

[33]  G. Pals,et al.  Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome , 2004, Human mutation.

[34]  Yusuke Nakamura,et al.  Heterozygous TGFBR2 mutations in Marfan syndrome , 2004, Nature Genetics.

[35]  Michael J Ackerman,et al.  Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases. , 2004, Circulation.

[36]  P. Byers,et al.  Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. , 2004, American journal of human genetics.

[37]  K. Holman,et al.  Ectopia lentis phenotypes and the FBN1 gene , 2004, American journal of medical genetics. Part A.

[38]  G. Thiene,et al.  An echocardiographic survey of primary school children for bicuspid aortic valve. , 2004, The American journal of cardiology.

[39]  A. Munnich,et al.  Clinical homogeneity and genetic heterogeneity in Weill–Marchesani syndrome , 2003, American journal of medical genetics. Part A.

[40]  A. Munnich,et al.  In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome , 2003, Journal of medical genetics.

[41]  I. Kaitila,et al.  Ten novel FBN2 mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype , 2002, Human mutation.

[42]  A. De Paepe,et al.  Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. , 2001, Archives of internal medicine.

[43]  R. Hennekam,et al.  Quantitative assessment of dural ectasia as a marker for Marfan syndrome. , 2001, Radiology.

[44]  L. Nallamshetty,et al.  Dural ectasia and conventional radiography in the Marfan lumbosacral spine , 2001, Skeletal Radiology.

[45]  E. Boerwinkle,et al.  Familial Thoracic Aortic Aneurysms and Dissections: Genetic Heterogeneity With a Major Locus Mapping to 5q13-14 , 2001, Circulation.

[46]  D. Milewicz,et al.  Identification of a Chromosome 11q23.2-q24 Locus for Familial Aortic Aneurysm Disease, a Genetically Heterogeneous Disorder , 2001, Circulation.

[47]  P. Byers,et al.  Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. , 2000, The New England journal of medicine.

[48]  A. De Paepe,et al.  Widening of the spinal canal and dural ectasia in Marfan's syndrome: assessment by CT , 1999, Neuroradiology.

[49]  J. Le Heuzey,et al.  Mapping of a first locus for autosomal dominant myxomatous mitral-valve prolapse to chromosome 16p11.2-p12.1. , 1999, American journal of human genetics.

[50]  B. MacWilliams,et al.  The foot in Marfan syndrome: clinical findings and weight-distribution patterns. , 1998, Journal of pediatric orthopedics.

[51]  J. Trochu,et al.  Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28. , 1998, American journal of human genetics.

[52]  C. Henry,et al.  The relationship between arm-span measurement and height with special reference to gender and ethnicity. , 1996, European journal of clinical nutrition.

[53]  R E Pyeritz,et al.  Revised diagnostic criteria for the Marfan syndrome. , 1996, American journal of medical genetics.

[54]  H. Dietz,et al.  Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome , 1996, Nature Genetics.

[55]  D. Milewicz,et al.  Fibrillin–2 (FBN2) mutations result in the Marfan–like disorder, congenital contractural arachnodactyly , 1995, Nature Genetics.

[56]  J. Repke,et al.  A prospective longitudinal evaluation of pregnancy in the Marfan syndrome. , 1995, American journal of obstetrics and gynecology.

[57]  L. Riley,et al.  The thoracolumbar spine in Marfan syndrome. , 1995, The Journal of bone and joint surgery. American volume.

[58]  N. Weissman,et al.  In vivo mitral valve morphology and motion in mitral valve prolapse. , 1994, The American journal of cardiology.

[59]  E. Murphy,et al.  Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan's syndrome. , 1994, The New England journal of medicine.

[60]  H. Dietz,et al.  Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. , 1993, Genomics.

[61]  R. Devereux,et al.  Association of aortic dilation with regurgitant, stenotic and functionally normal bicuspid aortic valves. , 1992, Journal of the American College of Cardiology.

[62]  Ada Hamosh,et al.  Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene , 1991, Nature.

[63]  R. Wenstrup,et al.  Ehlers-Danlos syndrome type VI: clinical manifestations of collagen lysyl hydroxylase deficiency. , 1989, The Journal of pediatrics.

[64]  R. Devereux,et al.  Two-dimensional echocardiographic aortic root dimensions in normal children and adults. , 1989, The American journal of cardiology.

[65]  R. Pyeritz,et al.  Association of mitral valve prolapse and systemic abnormalities of connective tissue. A phenotypic continuum. , 1989, JAMA.

[66]  R. Devereux,et al.  Comparison of cardiovascular and skeletal features of primary mitral valve prolapse and Marfan syndrome. , 1989, The American journal of cardiology.

[67]  D. Sillence,et al.  International Nosology of Heritable Disorders of Connective Tissue, Berlin, 1986. , 1988, American journal of medical genetics.

[68]  R. Devereux,et al.  Inheritance of mitral valve prolapse: effect of age and sex on gene expression. , 1982, Annals of internal medicine.

[69]  V. McKusick,et al.  The Cardiovascular Aspects of Marfan's Syndrome: A Heritable Disorder of Connective Tissue , 1955, Circulation.

[70]  R. Kosaki,et al.  Molecular pathology of Shprintzen–Goldberg syndrome , 2006, American journal of medical genetics. Part A.

[71]  S. Tinschert,et al.  Response to Kosaki et al. “Molecular pathology of Shprintzen–Goldberg syndrome” , 2006 .

[72]  T. Rea,et al.  A Community-Based Study , 2004 .

[73]  Victor A. McKusick,et al.  Heritable disorders of connective tissue , 1972 .