Zobrazeno 1 - 10
of 158
pro vyhledávání: '"JG Leroy"'
Autor:
Isabelle Colle, Anja Geerts, Hans Van Vlierberghe, Xavier Rogiers, Detlev Schindler, Genevieve Laureys, Sarah Raevens, Koen Reyntjens, Louis Libbrecht, JG Leroy, Vincent De Wilde, Roberto Troisi, Helmut Hanenberg, Holger Hoehn
Publikováno v:
Hepatology Research. 43:991-998
Fanconi anemia (FA) is an inherited bone marrow failure syndrome due to defective DNA inter-strand cross-link repair. Hematopoietic stem cell transplantation (HSCT) is curative for pancytopenia, but may not prevent the development of non-hematologica
Publikováno v:
American Journal of Medical Genetics. :49-56
Repeated occurrence of a hitherto unrecognized form of spondyloepiphyseal dysplasia tarda (SED tarda) has been studied in two independent families. Because parental consanguinity was also present in one family, autosomal recessive inheritance is prop
Publikováno v:
European Journal of Human Genetics. 9:606-612
Multiple epiphyseal dysplasia (MED) is a mild chondrodysplasia affecting the structural integrity of cartilage and causing early-onset osteoarthrosis in adulthood. The condition is genetically heterogeneous. Mutations in the COMP gene and in two gene
Autor:
D. Plantaz, Christine Devalck, M. Demarche, Catharina Dhooge, B. De Moerloose, Genevieve Laureys, JG Leroy, Jan Philippé, Yves Benoit
Publikováno v:
Cytometry. 37:125-132
Background: Patients suffering from neuroblastic tumors are currently being classified into prognostic subsets based on different clinical and biologic features. In this study, a triple-color flow cytometric assay and a functional test were applied t
Publikováno v:
Cancer Genetics and Cytogenetics. 60:176-179
We report the cytogenetic findings in a case of malignant melanoma of soft parts. Overre-presentation of 1q together with a del(1)(q42), extra copies of chromosomes 7 and 8, and t(12;22)(q13;q13) were found. These findings allow further delineation o
Autor:
A. Kumamoto, Rosalyn Slater, A. Geurts van Kessel, J.W. Wessels, B.M. Cattanach, E.J. Dreef, R.E. Kibbelaar, G. Otulakowski, Charles E. Schwartz, S. Parikh, G.J. den Ottolander, J. George, I. Hansmann, U. Francke, G.M. Greig, H. Nakai, M.G. Byers, F. Yang, S. Boularand, Roger E. Stevenson, N.S.-F. Ma, J. Hayakawa, L.-C. Tsui, D.W. Threadgill, S. Kubota, D.H. Ledbetter, J. Spencer, I.A. Noordermeer, D.B. Farber, T.B. Nesterova, J.E. Womack, C.A. Kozak, L. Shi, C. Collet, M.C. Phelan, M. Vercruyssen, W.E. Fibbe, J. Mallet, H.F. Willard, E.P. Evans, C. Hanson, R.G. Taylor, N.B. Rubtsov, L.T. Williams, Andries Westerveld, R.G. Lafreniere, S. Navankasattusas, C. Szpirer, C.-L. Hsieh, C. Rasberry, E. Solomon, M.A. Abruzzo, M. Rivière, D.S. Gerhard, J.A. Escobedo, S.I. Radjabli, S.W. Scherer, D. Sheer, I.V. Nikitina, R.H. Brakenhoff, J.A. Miller, T.A. Jones, K.I. Kivirikko, T.J.M. Hulsebos, R.R. Mclnnes, T. Koizumi, M.C. Darmon, A. Goddard, P. Stanislovitis, S.P. Craig, N.J. Nowak, V.E. Powers, M.C. Simmler, S.M. Zakian, Y. Nakai, A.C.B. Peters, M. Kimura, J. Szpirer, M. Danciger, L. Dandolo, M. Westerman, M. van der Ploeg, L. Pajunen, E.P.J. Arnoldus, A.K. Raap, G.C. Beverstock, S. Schnittger, M. Katsuki, V.G. Matveeva, T. Shinohara, J. García-Heras, S.C. Bock, T.B. Shows, K. Klinger, A.P. Jackson, H. van Kamp, Franki Speleman, D.S. Gallagher, P.M. Kluin, A. Kuwano, T. Kajii, H.A. Taylor, B. Redeker, P. Van Oostveldt, T. Pihlajaniemi, JG Leroy, G.N. Hendy, Marcel M.A.M. Mannens, I.W. Craig, P. Avner, T. Abe, B.H. Robinson, V.L. Singer, P. Parham, E.K. Bijlsma, G. Levan, S. Kohno, S.J. Sadler, V.V.N.G. Rao
Publikováno v:
Cytogenetic and Genome Research. 56:217-230
Autor:
G. Levan, S.P. Craig, I.W. Craig, I.V. Nikitina, N.J. Nowak, T. Pihlajaniemi, C.A. Kozak, M.C. Simmler, H.A. Taylor, C. Collet, G.N. Hendy, C.-L. Hsieh, P. Van Oostveldt, R.G. Taylor, J.A. Miller, M.C. Darmon, A.C.B. Peters, J.W. Wessels, E. Solomon, M.A. Abruzzo, T. Abe, S.M. Zakian, M. Kimura, Y. Nakai, D. Sheer, B.M. Cattanach, Rosalyn Slater, Franki Speleman, P.M. Kluin, A. Kuwano, M. Westerman, S. Kohno, S.J. Sadler, N.S.-F. Ma, D.S. Gallagher, V.E. Powers, T.B. Shows, J. George, M. Van der Ploeg, K. Klinger, G.M. Greig, G. Otulakowski, M.C. Phelan, V.L. Singer, J. Szpirer, A.K. Raap, A. Geurts van Kessel, W.E. Fibbe, V.V.N.G. Rao, M. Vercruyssen, E.P. Evans, E.P.J. Arnoldus, E.J. Dreef, L.-C. Tsui, P. Parham, I. Hansmann, S. Parikh, L. Shi, L.T. Williams, R.E. Kibbelaar, J. Hayakawa, T. Kajii, M. Rivière, T. Shinohara, D.S. Gerhard, E.K. Bijlsma, M.G. Byers, A.P. Jackson, S.W. Scherer, S. Boularand, F. Yang, J. Mallet, J.A. Escobedo, Andries Westerveld, H.F. Willard, Roger E. Stevenson, R.R. Mclnnes, P. Stanislovitis, H. van Kamp, D.W. Threadgill, T. Koizumi, T.B. Nesterova, J.E. Womack, N.B. Rubtsov, T.A. Jones, T.J.M. Hulsebos, M. Danciger, S. Kubota, M. Katsuki, D.H. Ledbetter, S. Navankasattusas, C. Szpirer, V.G. Matveeva, S.I. Radjabli, L. Pajunen, R.H. Brakenhoff, J. García-Heras, G.C. Beverstock, S.C. Bock, Charles E. Schwartz, L. Dandolo, S. Schnittger, I.A. Noordermeer, C. Hanson, B.H. Robinson, A. Kumamoto, D.B. Farber, C. Rasberry, B. Redeker, K.I. Kivirikko, G.J. den Ottolander, H. Nakai, JG Leroy, Marcel M.A.M. Mannens, P. Avner, U. Francke, J. Spencer, R.G. Lafreniere, A. Goddard
Publikováno v:
Cytogenetic and Genome Research. 56:I-IV
Autor:
André Mégarbané, Sofie Symoens, Kris Gevaert, Fransiska Malfait, Andy Willaert, Paul Coucke, Geert Mortier, A De Paepe, Hülya Kayserili, JG Leroy
Publikováno v:
JOURNAL OF MEDICAL GENETICS
Background: Recessive forms of osteogenesis imperfecta (OI) may be caused by mutations in LEPRE1, encoding prolyl 3-hydroxylase-1 (P3H1) or in CRTAP, encoding cartilage associated protein. These proteins constitute together with cyclophilin B (CyPB)
Publikováno v:
Human molecular genetics. 2(4)
Autor:
M. Vercruyssen, B. Redeker, Rosalyn Slater, JG Leroy, Marcel M.A.M. Mannens, Franki Speleman, P. Van Oostveldt
Publikováno v:
Cytogenetics and cell genetics, 56(3-4), 129-131. S. Karger AG
A de novo 11p+ chromosome was found in a child with mild mental retardation but no other remarkable dysmorphic characteristics. Banding studies suggested a duplication of regions 11p13 and 11p14 or regions 11p14 and 11p15. Using fluorescent in situ h