Mostra 1 - 20 risultati di 36 ricerca 'Schlessinger, D', tempo di risposta: 0,03s
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Physical map of the Xq27 candidate region for X-linked recessive hypoparathyroidism in two kindreds merged by mitochondrial DNA analysis di Mumm, S, Whyte, M, Thakker, R, Schlessinger, D
Pubblicazione 1996Journal article -
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Genome analysis and the human X chromosome. di Mandel, J, Monaco, A, Nelson, D, Schlessinger, D, Willard, H
Pubblicazione 1992Journal article -
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REPORT OF THE 6TH INTERNATIONAL WORKSHOP ON X-CHROMOSOME MAPPING 1995 di Nelson, D, Ballabio, A, Cremers, F, Monaco, A, Schlessinger, D
Pubblicazione 1995Journal article -
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REPORT OF THE 5TH INTERNATIONAL WORKSHOP ON HUMAN X-CHROMOSOME MAPPING 1994 di Willard, H, Cremers, F, Mandel, J, Monaco, A, Nelson, D, Schlessinger, D
Pubblicazione 1994Journal article -
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Seven novel mutations in the PEX gene indicate molecular heterogeneity for X-linked hypophosphataemic rickets. di Dixon, P, Wooding, C, Trump, D, Schlessinger, D, Whyte, M, Thakker, R
Pubblicazione 1996Journal article -
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Expression and cloning of the human X-linked hypophosphatemia gene cDNA. di Grieff, M, Mumm, S, Waeltz, P, Mazzarella, R, Whyte, M, Thakker, R, Schlessinger, D
Pubblicazione 1997Journal article -
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Genetic mapping studies of the X-linked recessive hypoparathyroid gene on the X chromosome (Xq27). di Dixon, P, Trump, D, Wooding, C, Mumm, S, Schlessinger, D, Whyte, M, Thakker, R
Pubblicazione 1996Journal article -
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X-linked recessive hypoparathyroidism is caused by a molecular deletional-insertion involving chromosomes Xq27 and 2p25. di Bowl, MR, Nesbit, M, Harding, B, Levy, E, Schlessinger, D, Whyte, M, Thakker, R
Pubblicazione 2001Journal article -
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Mutations of the PEX regulatory and C-terminal regions cause X-linked hypophosphataemia. di Dixon, P, Wooding, C, Christie, P, Grieff, M, Schlessinger, D, Whyte, M, Thakker, R
Pubblicazione 1997Journal article -
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Characterization of two genes within the candidate region for X-linked spondyloepiphyseal dysplasia tarda. di Mumm, S, Huber, R, Waeltz, P, Grieff, M, Thakker, R, Gottesman, G, Whyte, M, Schlessinger, D
Pubblicazione 1997Journal article -
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Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27. di Trump, D, Dixon, P, Mumm, S, Wooding, C, Davies, K, Schlessinger, D, Whyte, M, Thakker, R
Pubblicazione 1998Journal article -
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Characterization of two genes within the candidate region for X-linked spondyloepiphyseal dysplasia tarda. di Mumm, S, Huber, R, Waeltz, P, Grieff, M, Thakker, R, Gottesman, G, Whyte, M, Schlessinger, D
Pubblicazione 1997Journal article -
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New candidate genes for X-linked recessive hypoparathyroidism. di Mumm, S, Zhang, X, Nesbit, M, Mazzarella, R, Schlessinger, D, Thakker, R, Chen, E, Parvari, R, Whyte, M
Pubblicazione 1999Journal article -
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Genome maps III di Mandel, J, Monaco, A, Nelson, D, Schlessinger, D, Willard, H, Chipperfield, M, Pearson, P, Gilna, P, Cinkosky, M
Pubblicazione 1992Journal article -
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Three genes that escape X chromosome inactivation are clustered within a 6 Mb YAC contig and STS map in Xp11.21-p11.22. di Miller, A, Gustashaw, K, Wolff, D, Rider, S, Monaco, A, Eble, B, Schlessinger, D, Gorski, J, van Ommen, G, Weissenbach, J
Pubblicazione 1995Journal article -
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Construction of a YAC contig and an STS map spanning 3.6 megabase pairs in Xp22.1. di Trump, D, Pilia, G, Dixon, P, Wooding, C, Thakrar, R, Leigh, SE, Nagaraja, R, Whyte, M, Schlessinger, D, Thakker, R
Pubblicazione 1996Journal article -
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An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism. di Bowl, MR, Nesbit, M, Harding, B, Levy, E, Jefferson, A, Volpi, E, Rizzoti, K, Lovell-Badge, R, Schlessinger, D, Whyte, M, Thakker, R
Pubblicazione 2005Journal article -
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Mutational analysis of PHEX gene in X-linked hypophosphatemia. di Dixon, P, Christie, P, Wooding, C, Trump, D, Grieff, M, Holm, I, Gertner, J, Schmidtke, J, Shah, B, Shaw, N, Smith, C, Tau, C, Schlessinger, D, Whyte, M, Thakker, R
Pubblicazione 1998Journal article