Výsledky vyhledávání - "R E, Pyeritz"

THE MARFAN SYNDROME: JOINT AND SKIN MANIFESTATIONS ARE PREVALENT AND CORRELATED

Autor: Rodney Grahame, R E Pyeritz

Publikováno v: Rheumatology. 34:126-131

The objective of the study was to ascertain the occurrence and inter-relationships of locomotor symptoms, joint hypermobility and skin involvement in patients with the Marfan syndrome. A single clinical evaluation, using a standardized protocol, of r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f27712bbed810847d55f4710fc59ad66
https://doi.org/10.1093/rheumatology/34.2.126

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Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families

Autor: M, Reiff, K, Ross, S, Mulchandani, K J, Propert, R E, Pyeritz, N B, Spinner, B A, Bernhardt

Publikováno v: Clinical genetics. 83(1)

Chromosomal microarray analysis (CMA) has improved the diagnostic rate of genomic disorders in pediatric populations, but can produce uncertain and unexpected findings. This article explores clinicians' perspectives and identifies challenges in effec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3a3f7bcd5a5b5c6d4cdd5499c2834ba6
https://pubmed.ncbi.nlm.nih.gov/22989118

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Disorders of vascular fragility: implications for active patients

Autor: R E, Pyeritz

Publikováno v: The Physician and sportsmedicine. 29(6)

Circulatory vessels are subject to diverse pathologic processes that depend on the properties of the vessels. Vascular problems such as dilatation, dissection, and rupture can occur as a result of many disorders. Conditions that affect vessels includ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ba384ec3e8c0368950ce35b46bcb2153
https://pubmed.ncbi.nlm.nih.gov/20086578

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Heritable Disorders of Connective Tissue

Autor: R. E. Pyeritz

Publikováno v: Primer on the Rheumatic Diseases ISBN: 9780387356648

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0070ea8fa57681183f8d47d0fed4395d
https://doi.org/10.1007/978-0-387-68566-3_71

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Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1

Autor: B, Yuan, J P, Thomas, Y, von Kodolitsch, R E, Pyeritz

Publikováno v: Human mutation. 14(5)

Analysis of large genes for mutations of clinical relevance is complicated by intragenic heterogeneity, sensitivity, and cost of the methods available, and in the case of many conditions, specificity of the genetic alterations detected. We examined t

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https://pubmed.ncbi.nlm.nih.gov/10533071

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Impact of laboratory molecular diagnosis on contemporary diagnostic criteria for genetically transmitted cardiovascular diseases:hypertrophic cardiomyopathy, long-QT syndrome, and Marfan syndrome. A statement for healthcare professionals from the Councils on Clinical Cardiology, Cardiovascular Disease in the Young, and Basic Science, American Heart Association

Autor: B J, Maron, J H, Moller, C E, Seidman, G M, Vincent, H C, Dietz, A J, Moss, H M, Sondheimer, R E, Pyeritz, G, McGee, A E, Epstein

Publikováno v: Circulation. 98(14)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::74ef457c84634751c4f6d0380974c5aa
https://pubmed.ncbi.nlm.nih.gov/9841131

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Screening for cystic fibrosis

Autor: L B, Holmes, R E, Pyeritz

Publikováno v: JAMA. 279(14)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::22427a6c8e80578ece5751f24dd8bce7
https://pubmed.ncbi.nlm.nih.gov/9546562

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The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2

Autor: D H, Gutmann, A, Aylsworth, J C, Carey, B, Korf, J, Marks, R E, Pyeritz, A, Rubenstein, D, Viskochil

Publikováno v: JAMA. 278(1)

Neurofibromatosis 1 and neurofibromatosis 2 are autosomal dominant genetic disorders in which affected individuals develop both benign and malignant tumors at an increased frequency. Since the original National Institutes of Health Consensus Developm

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https://pubmed.ncbi.nlm.nih.gov/9363966

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Fine mapping of the nail-patella syndrome locus at 9q34

Autor: I, McIntosh, M V, Clough, A A, Schäffer, E G, Puffenberger, V K, Horton, K, Peters, M H, Abbott, C M, Roig, S, Cutone, L, Ozelius, D J, Kwiatkowski, R E, Pyeritz, L J, Brown, R M, Pauli, M K, McCormick, C A, Francomano

Publikováno v: American journal of human genetics. 60(1)

Nail-patella syndrome (NPS), or onychoosteodysplasia, is an autosomal dominant, pleiotropic disorder characterized by nail dysplasia, absent or hypoplastic patellae, iliac horns, and nephropathy. Previous studies have demonstrated linkage of the nail

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::14eb4bdb3f28305bb79505320d852c18
https://pubmed.ncbi.nlm.nih.gov/8981956

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Revised diagnostic criteria for the Marfan syndrome

Autor: A, De Paepe, R B, Devereux, H C, Dietz, R C, Hennekam, R E, Pyeritz

Publikováno v: American journal of medical genetics. 62(4)

In 1986, the diagnosis of the Marfan syndrome was codified on the basis of clinical criteria in the Berlin nosology [Beighton et al., 1988]. Over time, weaknesses have emerged in these criteria, a problem accentuated by the advent of molecular testin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3098c780a29289438e36151026a2b325
https://pubmed.ncbi.nlm.nih.gov/8723076

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