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1
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0032888766
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Pyknodysostosis: A report of two siblings with unusual manifestations
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AGARWAL I.; KIRUBAKARAN C., SRIDHAR G.: Pyknodysostosis: a report of two siblings with unusual manifestations. Ann. Trop. Paediatr; 1999, 19, 301-305.
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AGARWAL, I.1
KIRUBAKARAN, C.2
SRIDHAR, G.3
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2
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2942513237
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CHOU H.T., HUNG J.S., CHEN Y.T., WU J.Y., TSAI F.J.: Association between COL3A1 collagen gene exon 31 polymorphism and risk of floppy mitral valve/mitral valve prolapse. Int. J. Cardiol., 2004, 95, 299-305.
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CHOU H.T., HUNG J.S., CHEN Y.T., WU J.Y., TSAI F.J.: Association between COL3A1 collagen gene exon 31 polymorphism and risk of floppy mitral valve/mitral valve prolapse. Int. J. Cardiol., 2004, 95, 299-305.
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3
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0033365009
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Mapping of a first locus for autosomal dominant myxomatous mitral-valve prolapse to chromosome 16p11.2-p12.1
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DISSE S., ABERGEL E., BERREBI A., HOUOT A.M., LE HEUZEY J.Y., DIEBOLD B, GUIZE L., CARPENTIER A., CORVOL P., JEUNEMAITRE X.: Mapping of a first locus for autosomal dominant myxomatous mitral-valve prolapse to chromosome 16p11.2-p12.1. Am. J. Hum. Genet., 1999, 65, 1242-1251.
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DISSE, S.1
ABERGEL, E.2
BERREBI, A.3
HOUOT, A.M.4
LE HEUZEY, J.Y.5
DIEBOLD, B.6
GUIZE, L.7
CARPENTIER, A.8
CORVOL, P.9
JEUNEMAITRE, X.10
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4
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0029809357
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Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency
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GELB B.D., SHI G.P., CHAPMAN H.A. DESNlCK R. J.: Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science, 1996, 273, 1236-1238.
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GELB, B.D.1
SHI, G.P.2
CHAPMAN, H.A.3
DESNlCK, R.J.4
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5
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34548595312
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The genetics of mitral valve prolapse
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GRAU J.B., PIRELLI L., YU P.J., GALLOWAY A.C., OSTRER H.: The genetics of mitral valve prolapse. Clin. Genet., 2007, 72, 288-295.
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GRAU, J.B.1
PIRELLI, L.2
YU, P.J.3
GALLOWAY, A.C.4
OSTRER, H.5
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6
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0024515516
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Genetic evidence that mutations in the COL1A1, COL1A2, COL3A1, or COL5A2 collagen genes are not responsible for mitral valve prolapse
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HENNEY A.M., TSIPOURAS P., SCHWARTZ R.C., CHILD A.H., DEVEREUX R.B., LEECH G.J.: Genetic evidence that mutations in the COL1A1, COL1A2, COL3A1, or COL5A2 collagen genes are not responsible for mitral valve prolapse. Brit. Heart J., 1989, 61, 292-299.
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HENNEY, A.M.1
TSIPOURAS, P.2
SCHWARTZ, R.C.3
CHILD, A.H.4
DEVEREUX, R.B.5
LEECH, G.J.6
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7
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34247142706
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Molecular genetics of mitral valve prolapse
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LEVINE R.A., SLAUGENHAUPT S.A.: Molecular genetics of mitral valve prolapse. Curr. Opin. Cardiol., 2007, 22, 171-175.
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LEVINE, R.A.1
SLAUGENHAUPT, S.A.2
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8
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0035990969
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FISHER D.E.: Pycnodysostosis: role and regulation of cathepsin K in osteoclast function and human disease
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MOTYHCKOVA G., FISHER D.E.: Pycnodysostosis: role and regulation of cathepsin K in osteoclast function and human disease. Curr. Mol. Med., 2002, 2, 407-421.
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MOTYHCKOVA, G.1
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9
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0442292375
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NASUTl J.F., ZHANG P.J., FELDMAN M.D., PASHA T., KHURANA J.S., GORMAN J.H. 3rd, GORMAN R.C., NARULA J., NARULA N.: Fibrillin and other matrix proteins in mitral valve prolapse syndrome. Ann. Thorac. Surg., 2004, 77, 532-536.
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NASUTl J.F., ZHANG P.J., FELDMAN M.D., PASHA T., KHURANA J.S., GORMAN J.H. 3rd, GORMAN R.C., NARULA J., NARULA N.: Fibrillin and other matrix proteins in mitral valve prolapse syndrome. Ann. Thorac. Surg., 2004, 77, 532-536.
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10
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0032061857
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Pycnodysostosis: Orofacial manifestations in two pediatric patients
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O'CONNELL A.C., BRENNAN M.T., FRANCOMANO C.A.: Pycnodysostosis: orofacial manifestations in two pediatric patients. Pediatr. Dent., 1998, 20, 204-207.
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O'CONNELL, A.C.1
BRENNAN, M.T.2
FRANCOMANO, C.A.3
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11
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76049100694
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Online Mendelian Inheritance in Man, OMIM (TM) McKusick-Nathans Institute for Genetic Medicine, John Hopkins University (Baltimore MD), (February, 25 2009). World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim
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Online Mendelian Inheritance in Man, OMIM (TM) McKusick-Nathans Institute for Genetic Medicine, John Hopkins University (Baltimore MD), (February, 25 2009). World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim
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12
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34047121220
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High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K
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SCHILLING A.F., MÜLHAUSEN C., LEHMANN W., SANTER R., SCHINKE T., RUEGER J.M., AMLING M.: High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K. Osteoporos Int., 2007, 18, 659-669.
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Osteoporos Int
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SCHILLING, A.F.1
MÜLHAUSEN, C.2
LEHMANN, W.3
SANTER, R.4
SCHINKE, T.5
RUEGER, J.M.6
AMLING, M.7
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13
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33746924912
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Bilateral charnley low-friction arthroplasty with cement in a patient with pyknodysostosis. A case report
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WADIA F., SHAH N., PORTER M.: Bilateral charnley low-friction arthroplasty with cement in a patient with pyknodysostosis. A case report. J. Bone. Joint. Surg. Am., 2006, 88, 1846-1848.
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WADIA, F.1
SHAH, N.2
PORTER, M.3
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14
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0024584407
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Genetic segregation analysis of familial mitral valve prolapse shows no linkage of fibrillar collagen genes
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WORDSWORTH P., OGILVlE D., AKHRAS F., JACKSON G., SYKES B.: Genetic segregation analysis of familial mitral valve prolapse shows no linkage of fibrillar collagen genes. Brit. Heart J., 1989, 61, 300-306.
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Brit. Heart J
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WORDSWORTH, P.1
OGILVlE, D.2
AKHRAS, F.3
JACKSON, G.4
SYKES, B.5
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