Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY -related gene
Foster, Jamie W, Dominguez-Steglich, Marina A, Guioli, Silvana, Kwok, Cheni, Weller, Polly A, Stevanovi, Milena, Weissenbach, Jean, Mansour, Sahar, Young, Ian D, Goodfellow, Peter N, Brook, J. David, Schafer, Alan J
Published in Nature (London) (08.12.1994)
Published in Nature (London) (08.12.1994)
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Functional and Structural Studies of Wild Type SOX9 and Mutations Causing Campomelic Dysplasia
McDowall, Sharon, Argentaro, Anthony, Ranganathan, Shoba, Weller, Polly, Mertin, Sabine, Mansour, Sahar, Tolmie, John, Harley, Vincent
Published in The Journal of biological chemistry (20.08.1999)
Published in The Journal of biological chemistry (20.08.1999)
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PBDX is the XG blood group gene
Ellis, Nathan A, Tippett, Patricia, Petty, Alison, Reid, Marion, Weller, Polly A, Ye, Tian Z, German, James, Goodfellow, Peter N, Thomas, Stephen, Banting, George
Published in Nature genetics (01.11.1994)
Published in Nature genetics (01.11.1994)
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The Role of SOX9 in Autosomal Sex Reversal and Campomelic Dysplasia [and Discussion]
Schafer, Alan J., Dominguez-Steglich, Marina A., Guioli, Silvana, Kwok, Cheni, Weller, Polly A., Stevanovic, Milena, Weissenbach, Jean, Mansour, Sahar, Young, Ian D., Goodfellow, Peter N., Brook, J. David, Foster, Jamie W., Burgoyne, P., Graves, J. A. M.
Published in Philosophical transactions of the Royal Society of London. Series B. Biological sciences (29.11.1995)
Published in Philosophical transactions of the Royal Society of London. Series B. Biological sciences (29.11.1995)
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Mutations in SOX9, the gene responsible for campomelic dysplasia and autosomal sex reversal
CHENI KWOK, WELLER, P. A, GOODFELLOW, P. N, SCHAFER, A. J, GUIOLI, S, FOSTER, J. W, SAHAR MANSOUR, ZUFFARDI, O, PUNNETT, H. H, DOMINGUEZ-STEGLICH, M. A, BROOK, J. D, YOUNG, I. D
Published in American journal of human genetics (01.11.1995)
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Published in American journal of human genetics (01.11.1995)
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Cloning of PBDX , an MIC2 -related gene that spans the pseudoautosomal boundary on chromosome Xp
Ellis, Nathan A, Ye, Tian-Zhang, Patton, Susan, German, James, Goodfellow, Peter N, Weller, Polly
Published in Nature genetics (01.04.1994)
Published in Nature genetics (01.04.1994)
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An additional exon in the human vinculin gene specifically encodes meta‐vinculin‐specific difference peptide
KOTELIANSKY, Victor E., OGRYZKO, Elena P., ZHIDKOVA, Natalia I., WELLER, Polly A., CRITCHLEY, David R., VANCOMPERNOLLE, Katia, VANDEKERCKHOVE, Joel, STRASSER, Peter, WAY, Michael, GIMONA, Mario, SMALL, J. Victor
Published in European journal of biochemistry (01.03.1992)
Published in European journal of biochemistry (01.03.1992)
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A distant enhancer element is required for polymerase III transcription of a U6 RNA gene
Bark, C, Weller, P, Zabielski, J, Janson, L, Pettersson, U
Published in Nature (London) (23.07.1987)
Published in Nature (London) (23.07.1987)
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The human Y chromosome homologue of XG: transcription of a naturally truncated gene
Weller, P A, Critcher, R, Goodfellow, P N, German, J, Ellis, N A
Published in Human molecular genetics (01.05.1995)
Published in Human molecular genetics (01.05.1995)
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Mutually exclusive splicing of calcium-binding domain exons in chick alpha-actinin
WAITES, G. T, GRAHAM, I. R, JACKSON, P, MILLAKE, D. B, PATEL, B, BLANCHARD, A. D, WELLER, P. A, EPERON, I. C, CRITCHLEY, D. R
Published in The Journal of biological chemistry (25.03.1992)
Published in The Journal of biological chemistry (25.03.1992)
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Organization of the human gene encoding the cytoskeletal protein vinculin and the sequence of the vinculin promoter
MOISEYEVA, E. P, WELLER, P. A, ZHIDKOVA, N. I, CORBEN, E. B, PATEL, B, JASINSKA, I, KOTELIANSKY, V. E, CRITCHLEY, D. R
Published in The Journal of biological chemistry (25.02.1993)
Published in The Journal of biological chemistry (25.02.1993)
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Mechanisms in vertebrate sex determination - The role of SOX9 in autosomal sex reversal and campomelic dysplasia
Schafer, Alan J., Dominguez-Steglich, Marina A., Guioli, Silvana, Kwok, Cheni, Weller, Polly A., Stevanovic, Milena, Weissenbach, Jean, Mansour, Sahar, Young, Ian D., Goodfellow, Peter Neville, Brook, J. David, Foster, Jamie W.
Published in Philosophical transactions of the Royal Society of London. Series B. Biological sciences (29.11.1995)
Published in Philosophical transactions of the Royal Society of London. Series B. Biological sciences (29.11.1995)
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An additional exon in the human vinculin gene specifically encodes meta-vinculin-specific difference peptide : cross-species comparison reveals variable and conserved motifs in the meta-vinculin insert
KOTELIANSKY, V. E, OGRYZKO, E. P, SMALL, J. V, ZHIDKOVA, N. I, WELLER, P. A, CRITCHLEY, D. R, VANCOMPERNOLLE, K, VANDERKERCHKHOVE, J, STRASSER, P, WAY, M, GIMONA, M
Published in European journal of biochemistry (01.03.1992)
Published in European journal of biochemistry (01.03.1992)
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