Loss-of-Function Mutations in the LIM-Homeodomain Gene, LMX1B, in Nail-Patella Syndrome
Vollrath, Douglas, Jaramillo-Babb, Virna L., Clough, Mark V., McIntosh, Iain, Scott, Kathleen M., Lichter, Paul R., Richards, Julia E.
Published in Human molecular genetics (01.07.1998)
Published in Human molecular genetics (01.07.1998)
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Journal Article
Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients
McIntosh, Iain, Dreyer, Sandra D., Clough, Mark V., Dunston, Jennifer A., Eyaid, Wafa'a, Roig, Carmen M., Montgomery, Tara, Ala-Mello, Sirpa, Kaitila, Ilkka, Winterpacht, Andreas, Zabel, Bernhard, Frydman, Moshe, Cole, William G., Francomano, Clair A., Lee, Brendan
Published in American journal of human genetics (01.12.1998)
Published in American journal of human genetics (01.12.1998)
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Journal Article
Fine mapping of the nail-patella syndrome locus at 9q34
MCINTOSH, I, CLOUGH, M. V, KWIATKOWSKI, D. J, PYERITZ, R. E, BROWN, L. J, PAULI, R. M, MCCORMICK, M. K, FRANCOMANO, C. A, SCHÄFFER, A. A, PUFFENBERGER, E. G, HORTON, V. K, PETERS, K, ABBOTT, M. H, ROIG, C. M, CUTONE, S, OZELIUS, L
Published in American journal of human genetics (1997)
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Published in American journal of human genetics (1997)
Journal Article
Prenatal diagnosis of nail-patella syndrome
McIntosh, Iain, Clough, Mark V., Gak, Eva, Frydman, Moshe
Published in Prenatal diagnosis (01.03.1999)
Published in Prenatal diagnosis (01.03.1999)
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Journal Article
Physical mapping of the nail patella syndrome interval at 9q34 : Ordering of STSs and ESTs
EYAID, W. M, CLOUGH, M. V, MCINTOSH, I, ROOT, H, SCOTT, K. M, MCCORMICK, M. K, XUE ZHANG, LISITSYN, N. A, KEARNS, W. G, FRANCOMANO, C. A, RICHARDS, J. E
Published in Human genetics (01.10.1998)
Published in Human genetics (01.10.1998)
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Journal Article
Achondroplasia and nail-patella syndrome: the compound phenotype
WRIGHT, M J, AIN, M C, CLOUGH, M V, BELLUS, G A, HURKO, O, MCINTOSH, I
Published in Journal of medical genetics (01.09.2000)
Published in Journal of medical genetics (01.09.2000)
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Journal Article
Delayed membranous ossification of the cranium associated with familial translocation (2;3)(p15;q12)
Cargile, C B, McIntosh, I, Clough, M V, Rutberg, J, Yaghmai, R, Goodman, B K, Chen, X N, Korenberg, J R, Thomas, G H, Geraghty, M T
Published in American journal of medical genetics (19.06.2000)
Published in American journal of medical genetics (19.06.2000)
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Journal Article
Achondroplasia and nail-patella syndrome: the compound phenotype
Wright, M J, Ain, M C, Clough, M V, Bellus, G A, Hurko, O, McIntosh, I
Published in Journal of medical genetics (01.09.2000)
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Published in Journal of medical genetics (01.09.2000)
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