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Collins, A., Frezal, J., Teague, J., Morton, N. E.
Published in Proceedings of the National Academy of Sciences - PNAS (10.12.1996)
Published in Proceedings of the National Academy of Sciences - PNAS (10.12.1996)
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Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis
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Published in Nature genetics (01.12.1996)
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The Role of the SMN Gene in Proximal Spinal Muscular Atrophy
Lefebvre, Suzie, Bürglen, Lydie, Frézal, Jean, Munnich, Arnold, Melki, Judith
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A gene for usher syndrome type I (USH1A) maps to chromosome 14q
Kaplan, J., Gerber, S., Bonneau, D., Rozet, J.M., Delrieu, O., Briard, M.L., Dollfus, H., Ghazi, I., Dufier, J.L., Frézal, J., Munnich, A.
Published in Genomics (San Diego, Calif.) (01.12.1992)
Published in Genomics (San Diego, Calif.) (01.12.1992)
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Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q
Melki, J, Abdelhak, S, Sheth, Peter, Bachelot, M. F, Burlet, Peter, Marcadet, Alun, Aicardi, J, Barois, Alun, Carriere, J. P, Fardeau, M, Fontan, D, Ponsot, G, Billette, T, Angelini, C, Barbosa, C, Ferriere, G, Lanzi, G, Ottolini, Alun, Babron, M. C, Cohen, D, Hanauer, Alun, Clerget-Darpoux, F, Lathrop, M, Munnich, Alun, Frezal, J
Published in Nature (London) (19.04.1990)
Published in Nature (London) (19.04.1990)
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Guidelines for human gene nomenclature (1997)
WHITE, J. A, MCALPINE, P. J, PETERS, J, SCOTT, A, SCOTT, H, SPURR, N, TALBOT, C. JR, POVEY, S, ANTONARAKIS, S, CANN, H, EPPIG, J. T, FRAZER, K, FREZAL, J, LANCET, D, NAHMIAS, J, PEARSON, P
Published in Genomics (San Diego, Calif.) (15.10.1997)
Published in Genomics (San Diego, Calif.) (15.10.1997)
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Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency
LYONNET, S, CAILLAUD, C, REY, F, BERTHELON, M, FREZAL, J, REY, J, MUNNICH, A
Published in American journal of human genetics (01.04.1989)
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Published in American journal of human genetics (01.04.1989)
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REPORT on the Fifth International Workshop on Chromosome 9 held at Eynsham, Oxfordshire, UK, September 4–6, 1996
POVEY, S., ATTWOOD, J., CHADWICK, B., FREZAL, J., HAINES, J. L., KNOWLES, M., KWIATKOWSKI, D. J., OLOPADE, O. I., SLAUGENHAUPT, S., SPURR, N. K., SMITH, M., STEEL, K., WHITE, J. A., PERICAK-VANCE, M. A.
Published in Annals of human genetics (01.05.1997)
Published in Annals of human genetics (01.05.1997)
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Conference Proceeding
Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France
REY, F, BERTHELON, M, REY, J, CAILLAUD, C, LYONNET, S, ABADIE, V, BLANDIN-SAVOJA, F, FEINGOLD, J, SAUDUBRAY, J.-M, FREZAL, J, MUNNICH, A
Published in American journal of human genetics (01.12.1988)
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Published in American journal of human genetics (01.12.1988)
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Phenotype-genotype correlations in X linked retinitis pigmentosa
Kaplan, J, Pelet, A, Martin, C, Delrieu, O, Aymé, S, Bonneau, D, Briard, M L, Hanauer, A, Larget-Piet, L, Lefrançois, P
Published in Journal of medical genetics (01.09.1992)
Published in Journal of medical genetics (01.09.1992)
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Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes
Melki, J, Abdelhak, S, Burlet, P, Raclin, V, Kaplan, J, Spiegel, R, Gilgenkrantz, S, Philip, N, Chauvet, M L, Dumez, Y
Published in Journal of medical genetics (01.03.1992)
Published in Journal of medical genetics (01.03.1992)
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Identification and characterization of a spinal muscular atrophy-determining gene
Lefebvre, Suzie, Bürglen, Lydie, Reboullet, Sophie, Clermont, Olivier, Burlet, Philippe, Viollet, Louis, Benichou, Bernard, Cruaud, Corinne, Millasseau, Philippe, Zeviani, Massimo, Le Paslier, Denis, Frézal, Jean, Cohen, Daniel, Weissenbach, Jean, Munnich, Arnold, Melki, Judith
Published in Cell (13.01.1995)
Published in Cell (13.01.1995)
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The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish inquisition
GERBER, Sylvie, ROZET, Jean-Michel, JEANPIERRE, Marc, ROMANA, Serge, FREZAL, Jean, FERRAZ, Fernando, YU-UMESONO, Ruth, MUNNICH, Arnold, KAPLAN, Josseline, TAKEZAWAN, Shin-Ichiro, DOS SANTOS, Luisa Coutinho, LOPES, Lucilia, GRIBOUVAL, Olivier, PENET, Clotilde, PERRAULT, Isabelle, DUCROQ, Dominique, SOUIED, Eric
Published in Human genetics (01.09.2000)
Published in Human genetics (01.09.2000)
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REPORT on the Fifth International Workshop on Chromosome 9 held at Eynsham, Oxfordshire, UK, September 4–6, 1996
POVEY, S., ATTWOOD, J., CHADWICK, B., FREZAL, J., HAINES, J. L., KNOWLES, M., KWIATKOWSKI, D. J., OLOPADE, O. I., SLAUGENHAUPT, S., SPURR, N. K., SMITH, M., STEEL, K., WHITE, J. A., PERICAK‐VANCE, M. A.
Published in Annals of human genetics (01.05.1997)
Published in Annals of human genetics (01.05.1997)
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Report of the committee on clinical disorders and chromosomal deletion syndromes
Harper, P, Frézal, J, Ferguson-Smith, M, Schinzel, A
Published in Cytogenetics and cell genetics (1988)
Published in Cytogenetics and cell genetics (1988)
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