Source: http://structure.bmc.lu.se/idbase/KinMutBase/KMB_mut_pubs.html
Timestamp: 2019-04-22 18:27:19+00:00

Document:
Kjeldsen, A. D., Brusgaard, K., Poulsen, L., Kruse, T., Rasmussen, K., Green, A., Vase, P.
Am J Med Genet 2001 98(4): 298-302 [PubMed abstract].
The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2.
Berg, J. N., Gallione, C. J., Stenzel, T. T., Johnson, D. W., Allen, W. P., Schwartz, C. E., Jackson, C. E., Porteous, M. E., Marchuk, D. A.
Am J Hum Genet 1997 61(1): 60-67 [PubMed abstract].
Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.
Johnson, D. W., Berg, J. N., Baldwin, M. A., Gallione, C. J., Marondel, I., Yoon, S. J., Stenzel, T. T., Speer, M., Pericak-Vance, M. A., Diamond, A., Guttmacher, A. E., Jackson, C. E., Attisano, L., Kucherlapati, R., Porteous, M. E., Marchuk, D. A.
Nat Genet 1996 13(2): 189-195 [PubMed abstract].
A 27 base-pair deletion of the anti-müllerian type II receptor gene is the most common cause of the persistent müllerian duct syndrome.
Imbeaud, S., Belville, C., Messika-Zeitoun, L., Rey, R., di Clemente, N., Josso, N., Picard, J. Y.
Hum Mol Genet 1997 5(9): 1269-1277 [PubMed abstract].
Identification of a novel BMPR1A germline mutation in a korean juvenile polyposis patient without SMAD4 mutation.
Kim, I. J., Park, J. H., Kang, H. C., Kim, K. H., Kim, J. H., Ku, J. L., Kang, S. B., Park, S. Y., Lee, J. S., Park, J. G.
Clin Genet 2003 63(2): 126-130 [PubMed abstract].
Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis.
Howe, J. R., Bair, J. L., Sayed, M. G., Anderson, M. E., Mitros, F. A., Petersen, G. M., Velculescu, V. E., Traverso, G., Vogelstein, B.
Nat Genet 2001 28(2): 184-187 [PubMed abstract].
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of cowden and bannayan-riley-ruvalcaba syndromes.
Zhou, X. P., Woodford-Richens, K., Lehtonen, R., Kurose, K., Aldred, M., Hampel, H., Launonen, V., Virta, S., Pilarski, R., Salovaara, R., Bodmer, W. F., Conrad, B. A., Dunlop, M., Hodgson, S. V., Iwama, T., Jarvinen, H., Kellokumpu, I., Kim, J. C., Leggett, B., Markie, D., Mecklin, J. P., Neale, K., Phillips, R., Piris, J., Rozen, P., Houlston, R. S., Aaltonen, L. A., Tomlinson, I. P., Eng, C.
Am J Hum Genet 2001 69(4): 704-711 [PubMed abstract].
BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension.
Machado, R. D., Pauciulo, M. W., Thomson, J. R., Lane, K. B., Morgan, N. V., Wheeler, L., Phillips, J. A., Newman, J., Williams, D., Galie, N., Manes, A., McNeil, K., Yacoub, M., Mikhail, G., Rogers, P., Corris, P., Humbert, M., Donnai, D., Martensson, G., Tranebjaerg, L., Loyd, J. E., Trembath, R. C., Nichols, W. C.
Am J Hum Genet 2001 68(1): 92-102 [PubMed abstract].
Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene.
Deng, Z., Morse, J. H., Slager, S. L., Cuervo, N., Moore, K. J., Venetos, G., Kalachikov, S., Cayanis, E., Fischer, S. G., Barst, R. J., Hodge, S. E., Knowles, J. A.
Am J Hum Genet 2000 67(3): 737-744 [PubMed abstract].
Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. the international PPH consortium.
Lane, K. B., Machado, R. D., Pauciulo, M. W., Thomson, J. R., Phillips, J. A., Loyd, J. E., Nichols, W. C., Trembath, R. C.
Nat Genet 2000 26(1): 81-84 [PubMed abstract].
Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family.
Thomson, J. R., Machado, R. D., Pauciulo, M. W., Morgan, N. V., Humbert, M., Elliott, G. C., Ward, K., Yacoub, M., Mikhail, G., Rogers, P., Newman, J., Wheeler, L., Higenbottam, T., Gibbs, J. S., Egan, J., Crozier, A., Peacock, A., Allcock, R., Corris, P., Loyd, J. E., Trembath, R. C., Nichols, W. C.
J Med Genet 2000 37(10): 741-745 [PubMed abstract].
Bruton tyrosine kinase gene mutations in argentina.
Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., Zelazko, M.
Hum Mutat 2003 21(4): 451 [PubMed abstract].
Identification of mutations in the bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in korean X-linked agammaglobulinemia patients.
Jo, E. K., Wang, Y., Kanegane, H., Futatani, T., Song, C. H., Park, J. K., Kim, J. S., Kim, D. S., Ahn, K. M., Lee, S. I., Park, H. J., Hahn, Y. S., Lee, J. H., Miyawaki, T.
J Hum Genet 2003 48(6): 322-326 [PubMed abstract].
Composition of precursor B-cell compartment in bone marrow from patients with X-linked agammaglobulinemia compared with healthy children.
Noordzij, J. G., de Bruin-Versteeg, S., Comans-Bitter, W. M., Hartwig, N. G., Hendriks, R. W., de Groot, R., van Dongen, J. J.
Pediatr Res 2002 51(2): 159-168 [PubMed abstract].
Identification of mutations of bruton's tyrosine kinase gene (BTK) in brazilian patients with X-linked agammaglobulinemia.
Tani, S. M., Wang, Y., Kanegane, H., Futatani, T., Pinto, J., Vilela, M. M., Miyawaki, T.
Hum Mutat 2002 20(3): 235-236 [PubMed abstract].
XLA patients with BTK splice-site mutations produce low levels of wild-type BTK transcripts.
Noordzij, J. G., de Bruin-Versteeg, S., Hartwig, N. G., Weemaes, C. M., Gerritsen, E. J., Bernatowska, E., van Lierde, S., de Groot, R., van Dongen, J. J.
J Clin Immunol 2002 22(5): 306-318 [PubMed abstract].
Novel insertions of bruton tyrosine kinase in patients with X-linked agammaglobulinemia.
Okoh, M. P., Kainulainen, L., Heiskanen, K., Isa, M. N., Varming, K., Ruuskanen, O., Vihinen, M.
Hum Mutat 2002 20(6): 480-481 [PubMed abstract].
A case of X-linked agammaglobulinemia diagnosed in adulthood.
Stewart, D. M., Tian, L., Nelson, D. L.
Clin Immunol 2001 99(1): 94-99 [PubMed abstract].
Molecular analysis of bruton's tyrosine kinase gene in spain.
Rodriguez, M. C., Granados, E. L., Cerdan, A. F., Casariego, G. F.
Hum Mutat 2001 18(1): 84 [PubMed abstract].
Bruton's tyrosine kinase is present in normal platelets and its absence identifies patients with X-linked agammaglobulinaemia and carrier females.
Futatani, T., Watanabe, C., Baba, Y., Tsukada, S., Ochs, H. D.
Br J Haematol 2001 114(1): 141-149 [PubMed abstract].
Analysis of btk mutations in patients with X-linked agammaglobulinaemia (XLA) and determination of carrier status in normal female relatives: a nationwide study of btk deficiency in greece.
Speletas, M., Kanariou, M., Kanakoudi-Tsakalidou, F., Papadopoulou-Alataki, E., Arvanitidis, K., Pardali, E., Constantopoulos, A., Kartalis, G., Vihinen, M., Sideras, P., Ritis, K.
Scand J Immunol 2001 54(3): 321-327 [PubMed abstract].
Characterization of mutations, including a novel regulatory defect in the first intron, in bruton's tyrosine kinase gene from seven korean X-linked agammaglobulinemia families.
Jo, E. K., Kanegane, H., Nonoyama, S., Tsukada, S., Lee, J. H., Lim, K., Shong, M., Song, C. H., Kim, H. J., Park, J. K., Miyawaki, T.
J Immunol 2001 167(7): 4038-4045 [PubMed abstract].
Recurrent pneumonia with mild hypogammaglobulinemia diagnosed as X-linked agammaglobulinemia in adults.
Usui, K., Sasahara, Y., Tazawa, R., Hagiwara, K., Tsukada, S., Miyawaki, T., Tsuchiya, S., Nukiwa, T.
Respir Res 2001 2(3): 188-192 [PubMed abstract].
Identification of nine novel mutations in the bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients.
Orlandi, P., Ritis, K., Moschese, V., Angelini, F., Arvanitidis, K., Speletas, M., Sideras, P., Plebani, A., Rossi, P.
Hum Mutat 2000 15(1): 117 [PubMed abstract].
Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the btk gene.
Curtis, S. K., Hebert, M. D., Saha, B. K.
Am J Med Genet 2000 90(3): 229-232 [PubMed abstract].
Bruton's tyrosine kinase mutations in 8 chinese families with X-linked agammaglobulinemia.
Yip, K. L., Chan, S. Y., Ip, W. K., Lau, Y. L.
Hum Mutat 2000 15(4): 385 [PubMed abstract].
Detection of bruton's tyrosine kinase mutations in hypogammaglobulinaemic males registered as common variable immunodeficiency (CVID) in the japanese immunodeficiency registry.
Kanegane, H., Tsukada, S., Iwata, T., Futatani, T., Nomura, K., Yamamoto, J., Yoshida, T., Agematsu, K., Komiyama, A., Miyawaki, T.
Clin Exp Immunol 2000 120(3): 512-517 [PubMed abstract].
X-chromosome inactivation and mutation pattern in the bruton's tyrosine kinase gene in patients with X-linked agammaglobulinemia. italian XLA collaborative group.
Moschese, V., Orlandi, P., Plebani, A., Arvanitidis, K., Fiorini, M., Speletas, M., Mella, P., Ritis, K., Sideras, P., Finocchi, A., Livadiotti, S., Rossi, P.
Mol Med 2000 6(2): 104-113 [PubMed abstract].
Genetic defect in human X-linked agammaglobulinemia impedes a maturational evolution of pro-B cells into a later stage of pre-B cells in the B-cell differentiation pathway.
Nomura, K., Kanegane, H., Karasuyama, H., Tsukada, S., Agematsu, K., Murakami, G., Sakazume, S., Sako, M., Tanaka, R., Kuniya, Y., Komeno, T., Ishihara, S., Hayashi, K., Kishimoto, T., Miyawaki, T.
Blood 2000 96(2): 610-617 [PubMed abstract].
Cuccherini, B., Chua, K., Gill, V., Weir, S., Wray, B., Stewart, D., Nelson, D., Fuss, I., Strober, W.
Clin Immunol 2000 97(2): 121-129 [PubMed abstract].
Weir, S., Cuccherini, B., Whitney, A. M., Ray, M. L., MacGregor, J. P., Steigerwalt, A., Daneshvar, M. I., Weyant, R., Wray, B., Steele, J., Strober, W., Gill, V. J.
J Clin Microbiol 1999 37(8): 2439-2445 [PubMed abstract].
Deficient expression of bruton's tyrosine kinase in monocytes from X-linked agammaglobulinemia as evaluated by a flow cytometric analysis and its clinical application to carrier detection.
Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S., Kunikata, T., Arai, S., Kurimoto, M., Niida, Y., Matsuoka, H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O., Yoshizaki, K., Kishimoto, T.
Blood 1998 91(2): 595-602 [PubMed abstract].
Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course.
Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., Belohradsky, B. H., Smith, C. I., Meindl, A.
Pediatrics 1998 101(2): 276-284 [PubMed abstract].
Mutations in btk in patients with presumed X-linked agammaglobulinemia.
Conley, M. E., Mathias, D., Treadaway, J., Minegishi, Y., Rohrer, J.
Am J Hum Genet 1998 62(5): 1034-1043 [PubMed abstract].
Absence of bruton's tyrosine kinase (btk) mutations in patients with acute myeloid leukaemia.
Ritis, K., Speletas, M., Tsironidou, V., Pardali, E., Kanariou, M., Moschese, V., Orlandi, P., Skordala, M., Rossi, P., Kartalis, G., Bourikas, G., Sideras, P.
Br J Haematol 1998 102(5): 1241-1248 [PubMed abstract].
Farrar, J. E., Rohrer, J., Conley, M. E.
Clin Immunol Immunopathol 1997 81(3): 271-276 [PubMed abstract].
Mutation pattern in the bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia.
Vorechovsky, I., Luo, L., Hertz, J. M., Froland, S. S., Klemola, T., Fiorini, M., Quinti, I., Paganelli, R., Ozsahin, H., Hammarstrom, L., Webster, A. D., Smith, C. I.
Hum Mutat 1997 9(5): 418-425 [PubMed abstract].
Identification of novel bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemia.
Brooimans, R. A., van den Berg, A. J., Rijkers, G. T., Sanders, L. A., van Amstel, J. K., Tilanus, M. G., Grubben, M. J., Zegers, B. J.
J Med Genet 1997 34(6): 484-488 [PubMed abstract].
Molecular and structural characterization of five novel mutations in the bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemia.
Saha, B. K., Curtis, S. K., Vogler, L. B., Vihinen, M.
Mol Med 1997 3(7): 477-485 [PubMed abstract].
Improved oligonucleotide primer set for molecular diagnosis of X-linked agammaglobulinaemia: predominance of amino acid substitutions in the catalytic domain of bruton's tyrosine kinase.
Vorechovsky, I., Luo, L., de Saint Basile, G., Hammarstrom, L., Webster, A. D., Smith, C. I.
Hum Mol Genet 1996 4(12): 2403-2405 [PubMed abstract].
Identification of bruton's tyrosine kinase (btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of btk deficiency in japan.
Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., Niida, Y., Yachie, A., Kobayashi, S., Iwata, T., Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T., Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., Kishimoto, T.
Blood 1996 88(2): 561-573 [PubMed abstract].
Mutations of the btk gene in 12 unrelated families with X-linked agammaglobulinemia in japan.
Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R., Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y.
Hum Genet 1996 97(4): 424-430 [PubMed abstract].
The spectrum of mutations in btk that cause X-linked agammaglobulinemia.
Conley, M. E., Rohrer, J.
Clin Immunol Immunopathol 1995 76(3 Pt 2): S192-197 [PubMed abstract].
Characterization of germline mutations of the gene encoding bruton's tyrosine kinase in families with X-linked agammaglobulinemia.
Hagemann, T. L., Rosen, F. S., Kwan, S. P.
Hum Mutat 1995 5(4): 296-302 [PubMed abstract].
Identification of btk mutations in 20 unrelated patients with X-linked agammaglobulinaemia (XLA).
Jin, H., Webster, A. D., Vihinen, M., Sideras, P., Vorechovsky, I., Hammarstrom, L., Bernatowska-Matuszkiewicz, E., Smith, C. I., Bobrow, M., Vetrie, D.
Hum Mol Genet 1995 4(4): 693-700 [PubMed abstract].
Mutation analysis in bruton's tyrosine kinase, the X-linked agammaglobulinaemia gene, including identification of an insertional hotspot.
Gaspar, H. B., Bradley, L. A., Katz, F., Lovering, R. C., Roifman, C. M., Morgan, G., Levinsky, R. J., Kinnon, C.
Hum Mol Genet 1995 4(4): 755-757 [PubMed abstract].
DNA-based mutation analysis of bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia.
Vorechovsky, I., Vihinen, M., de Saint Basile, G., Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L., Fischer, A., Smith, C. I.
Hum Mol Genet 1995 4(1): 51-58 [PubMed abstract].
Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease.
Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, Q., Vorechovsky, I., Webster, A. D., Notarangelo, L. D., Nilsson, L., Sowadski, J. M.
Proc Natl Acad Sci U S A 1995 91(26): 12803-12807 [PubMed abstract].
Screening of genomic DNA to identify mutations in the gene for bruton's tyrosine kinase.
Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L., Parolini, O., Rohrer, J.
Hum Mol Genet 1995 3(10): 1751-1756 [PubMed abstract].
Unique mutations of bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families.
Zhu, Q., Zhang, M., Winkelstein, J., Chen, S. H., Ochs, H. D.
Hum Mol Genet 1995 3(10): 1899-1900 [PubMed abstract].
Genomic organization of the btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia.
Hagemann, T. L., Chen, Y., Rosen, F. S., Kwan, S. P.
Hum Mol Genet 1995 3(10): 1743-1749 [PubMed abstract].
An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency.
Duriez, B., Duquesnoy, P., Dastot, F., Bougneres, P., Amselem, S., Goossens, M.
FEBS Lett 1994 346(2-3): 165-170 [PubMed abstract].
Ohta, Y., Haire, R. N., Litman, R. T., Fu, S. M., Nelson, R. P., Kratz, J., Kornfeld, S. J., de la Morena, M., Good, R. A., Litman, G. W.
Proc Natl Acad Sci U S A 1994 91(19): 9062-9066 [PubMed abstract].
Mutation analysis of the bruton's tyrosine kinase gene in X-linked agammaglobulinemia: identification of a mutation which affects the same codon as is altered in immunodeficient xid mice.
de Weers, M., Mensink, R. G., Kraakman, M. E., Schuurman, R. K., Hendriks, R. W.
Hum Mol Genet 1994 3(1): 161-166 [PubMed abstract].
Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis.
Bradley, L. A., Sweatman, A. K., Lovering, R. C., Jones, A. M., Morgan, G., Levinsky, R. J., Kinnon, C.
Hum Mol Genet 1994 3(1): 79-83 [PubMed abstract].
Expression of bruton's agammaglobulinemia tyrosine kinase gene, BTK, is selectively down-regulated in T lymphocytes and plasma cells.
Smith, C. I., Baskin, B., Humire-Greiff, P., Zhou, J. N., Olsson, P. G., Maniar, H. S., Kjellen, P., Lambris, J. D., Christensson, B., Hammarstrom, L.
J Immunol 1994 152(2): 557-565 [PubMed abstract].
The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases.
Vetrie, D., Vorechovsky, I., Sideras, P., Holland, J., Davies, A., Flinter, F., Hammarstrom, L., Kinnon, C., Levinsky, R., Bobrow, M.
Nature 1993 361(6409): 226-233 [PubMed abstract].
Soufir, N., Avril, M. F., Chompret, A., Demenais, F., Bombled, J., Spatz, A., Stoppa-Lyonnet, D., Benard, J., Bressac-de Paillerets, B.
Hum Mol Genet 1998 7(2): 209-216 [PubMed abstract].
Complete scanning of the CDK4 gene by denaturing gradient gel electrophoresis: a novel missense mutation but low overall frequency of mutations in sporadic metastatic malignant melanoma.
Guldberg, P., Kirkin, A. F., Gronbaek, K., thor Straten, P., Ahrenkiel, V., Zeuthen, J.
Int J Cancer 1997 72(5): 780-783 [PubMed abstract].
Zuo, L., Weger, J., Yang, Q., Goldstein, A. M., Tucker, M. A., Walker, G. J., Hayward, N., Dracopoli, N. C.
Nat Genet 1996 12(1): 97-99 [PubMed abstract].
A p16INK4a-insensitive CDK4 mutant targeted by cytolytic T lymphocytes in a human melanoma.
Wolfel, T., Hauer, M., Schneider, J., Serrano, M., Wolfel, C., Klehmann-Hieb, E., De Plaen, E., Hankeln, T., Meyer zum Buschenfelde, K. H., Beach, D.
Science 1995 269(5228): 1281-1284 [PubMed abstract].
Frequency of CHEK2*1100delC in new york breast cancer cases and controls.
Offit, K., Pierce, H., Kirchhoff, T., Kolachana, P., Rapaport, B., Gregersen, P., Johnson, S., Yossepowitch, O., Huang, H., Satagopan, J., Robson, M., Scheuer, L., Nafa, K., Ellis, N.
BMC Med Genet 2003 4(1): 1 [PubMed abstract].
Dong, X., Wang, L., Taniguchi, K., Wang, X., Cunningham, J. M., McDonnell, S. K., Qian, C., Marks, A. F., Slager, S. L., Peterson, B. J., Smith, D. I., Cheville, J. C., Blute, M. L., Jacobsen, S. J., Schaid, D. J., Tindall, D. J., Thibodeau, S. N., Liu, W.
Am J Hum Genet 2003 72(2): 270-280 [PubMed abstract].
Contribution of the CHEK2 1100delC variant to risk of multiple colorectal adenoma and carcinoma.
Lipton, L., Fleischmann, C., Sieber, O. M., Thomas, H. J., Hodgson, S. V., Tomlinson, I. P., Houlston, R. S.
Cancer Lett 2003 200(2): 149-152 [PubMed abstract].
CHEK2 1100delC and colorectal cancer.
Kilpivaara, O., Laiho, P., Aaltonen, L. A., Nevanlinna, H.
J Med Genet 2003 40(10): e110 [PubMed abstract].
Seppala, E. H., Ikonen, T., Mononen, N., Autio, V., Rokman, A., Matikainen, M. P., Tammela, T. L., Schleutker, J.
Br J Cancer 2003 89(10): 1966-1970 [PubMed abstract].
Meijers-Heijboer, H., van den Ouweland, A., Klijn, J., Wasielewski, M., de Snoo, A., Oldenburg, R., Hollestelle, A., Houben, M., Crepin, E., van Veghel-Plandsoen, M., Elstrodt, F., van Duijn, C., Bartels, C., Meijers, C., Schutte, M., McGuffog, L., Thompson, D., Easton, D., Sodha, N., Seal, S., Barfoot, R., Mangion, J., Chang-Claude, J., Eccles, D., Eeles, R., Evans, D. G., Houlston, R., Murday, V., Narod, S., Peretz, T., Peto, J., Phelan, C., Zhang, H. X., Szabo, C., Devilee, P., Goldgar, D., Futreal, P. A., Nathanson, K. L., Weber, B., Rahman, N., Stratton, M. R.
Nat Genet 2002 31(1): 55-59 [PubMed abstract].
A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer.
Vahteristo, P., Bartkova, J., Eerola, H., Syrjakoski, K., Ojala, S., Kilpivaara, O., Tamminen, A., Kononen, J., Aittomaki, K., Heikkila, P., Holli, K., Blomqvist, C., Bartek, J., Kallioniemi, O. P., Nevanlinna, H.
Am J Hum Genet 2002 71(2): 432-438 [PubMed abstract].
Heterozygous germ line hCHK2 mutations in li-fraumeni syndrome.
Bell, D. W., Varley, J. M., Szydlo, T. E., Kang, D. H., Wahrer, D. C., Shannon, K. E., Lubratovich, M., Verselis, S. J., Isselbacher, K. J., Fraumeni, J. F., Birch, J. M., Li, F. P., Garber, J. E., Haber, D. A.
Science 2000 286(5449): 2528-2531 [PubMed abstract].
Dode, C., Levilliers, J., Dupont, J. M., De Paepe, A., Le Du, N., Soussi-Yanicostas, N., Coimbra, R. S., Delmaghani, S., Compain-Nouaille, S., Baverel, F., Pecheux, C., Le Tessier, D., Cruaud, C., Delpech, M., Speleman, F., Vermeulen, S., Amalfitano, A., Bachelot, Y., Bouchard, P., Cabrol, S., Carel, J. C., Delemarre-van de Waal, H., Goulet-Salmon, B., Kottler, M. L., Richard, O., Sanchez-Franco, F., Saura, R., Young, J., Petit, C., Hardelin, J. P.
Nat Genet 2003 33(4): 463-465 [PubMed abstract].
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
Kan, S. H., Elanko, N., Johnson, D., Cornejo-Roldan, L., Cook, J., Reich, E. W., Tomkins, S., Verloes, A., Twigg, S. R., Rannan-Eliya, S., McDonald-McGinn, D. M., Zackai, E. H., Wall, S. A., Muenke, M., Wilkie, A. O.
Am J Hum Genet 2002 70(2): 472-486 [PubMed abstract].
Molecular grading of urothelial cell carcinoma with fibroblast growth factor receptor 3 and MIB-1 is superior to pathologic grade for the prediction of clinical outcome.
van Rhijn, B. W., Vis, A. N., van der Kwast, T. H., Kirkels, W. J., Radvanyi, F., Ooms, E. C., Chopin, D. K., Boeve, E. R., Jobsis, A. C., Zwarthoff, E. C.
J Clin Oncol 2003 21(10): 1912-1921 [PubMed abstract].
Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia type I. mutations in brief no. 199. online.
Kitoh, H., Brodie, S. G., Kupke, K. G., Lachman, R. S., Wilcox, W. R.
Hum Mutat 2000 12(5): 362-363 [PubMed abstract].
Clinical and radiographic features of a family with hypochondroplasia owing to a novel asn540Ser mutation in the fibroblast growth factor receptor 3 gene.
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Mutation analysis of the RET gene in total intestinal aganglionosis by wave DNA fragment analysis system.
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Segregation of the V804L mutation and S836S polymorphism of exon 14 of the RET gene in an extended kindred with familial medullary thyroid cancer.
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Clin Genet 2003 63(3): 219-223 [PubMed abstract].
The newly detected mutations in the RET proto-oncogene in exon 16 as a cause of sporadic medullary thyroid carcinoma.
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J Mol Med 2003 81(12): 819-823 [PubMed abstract].
Atypical MEN type 2B associated with two germline RET mutations on the same allele not involving codon 918.
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Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and hirschsprung disease.
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Novel RET mutations in hirschsprung's disease patients from the diverse south african population.
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Three novel mutations in the RET proto-oncogene.
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Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in hirschsprung disease.
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Incidence of RET mutations in patients with hirschsprung's disease.
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Exp Clin Endocrinol Diabetes 2000 108(2): 128-132 [PubMed abstract].
Mutational analysis of RET/GDNF/NTN genes in children with total colonic aganglionosis with small bowel involvement.
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A codon 891 exon 15 RET proto-oncogene mutation in familial medullary thyroid carcinoma: a detection strategy.
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Mol Cell Probes 1999 13(1): 77-79 [PubMed abstract].
Two germline missense mutations at codons 804 and 806 of the RET proto-oncogene in the same allele in a patient with multiple endocrine neoplasia type 2B without codon 918 mutation.
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Jpn J Cancer Res 1999 90(1): 1-5 [PubMed abstract].
A GTG to ATG novel point mutation at codon 804 in exon 14 of the RET proto-oncogene in two families affected by familial medullary thyroid carcinoma.
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Hum Mutat 1999 Suppl 1(Suppl 1): S167-171 [PubMed abstract].
Germline and somatic mutations of the RET proto-oncogene in apparently sporadic medullary thyroid carcinomas.
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A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma.
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J Clin Endocrinol Metab 1998 83(3): 770-774 [PubMed abstract].
Novel point mutations and allele loss at the RET locus in sporadic medullary thyroid carcinomas.
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Phenotypic variation in a family with mutations in two hirschsprung-related genes (RET and endothelin receptor B).
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Hum Genet 1998 103(2): 145-148 [PubMed abstract].
Germline mutation of the RET proto-oncogene in children with total intestinal aganglionosis.
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Germline mutation of RET codon 883 in two cases of de novo MEN 2B.
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Oncogene 1997 15(10): 1213-1217 [PubMed abstract].
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Two maternally derived missense mutations in the tyrosine kinase domain of the RET protooncogene in a patient with de novo MEN 2B.
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Hum Mol Genet 1996 4(10): 1987-1988 [PubMed abstract].
Somatic mutations in the RET proto-oncogene in sporadic medullary thyroid carcinoma.
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Diversity of RET proto-oncogene mutations in familial and sporadic hirschsprung disease.
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Hum Mol Genet 1995 4(8): 1381-1386 [PubMed abstract].
Heterogeneity and low detection rate of RET mutations in hirschsprung disease.
Yin, L., Barone, V., Seri, M., Bolino, A., Bocciardi, R., Ceccherini, I., Pasini, B., Tocco, T., Lerone, M., Cywes, S.
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RET mutations in exons 13 and 14 of FMTC patients.
Bolino, A., Schuffenecker, I., Luo, Y., Seri, M., Silengo, M., Tocco, T., Chabrier, G., Houdent, C., Murat, A., Schlumberger, M.
Oncogene 1995 10(12): 2415-2419 [PubMed abstract].
A novel point mutation in the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC.
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Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in hirschsprung's disease.
Romeo, G., Ronchetto, P., Luo, Y., Barone, V., Seri, M., Ceccherini, I., Pasini, B., Bocciardi, R., Lerone, M., Kaariainen, H.
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Defects in the rhodopsin kinase gene in the oguchi form of stationary night blindness.
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Nat Genet 1997 15(2): 175-178 [PubMed abstract].
Recessive robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.
Afzal, A. R., Rajab, A., Fenske, C. D., Oldridge, M., Elanko, N., Ternes-Pereira, E., Tuysuz, B., Murday, V. A., Patton, M. A., Wilkie, A. O., Jeffery, S.
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Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive robinow syndrome.
van Bokhoven, H., Celli, J., Kayserili, H., van Beusekom, E., Balci, S., Brussel, W., Skovby, F., Kerr, B., Percin, E. F., Akarsu, N., Brunner, H. G.
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Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with coffin-lowry syndrome.
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Novel mutations in rsk-2, the gene for coffin-lowry syndrome (CLS).
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Eur J Hum Genet 1999 7(1): 20-26 [PubMed abstract].
Unreported RSK2 missense mutation in two male sibs with an unusually mild form of coffin-lowry syndrome.
Manouvrier-Hanu, S., Amiel, J., Jacquot, S., Merienne, K., Moerman, A., Coeslier, A., Labarriere, F., Vallee, L., Croquette, M. F., Hanauer, A.
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Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: coffin-lowry syndrome.
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J Med Genet 1999 35(11): 890-894 [PubMed abstract].
Mutation analysis of the RSK2 gene in coffin-lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations.
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Mutations in the kinase rsk-2 associated with coffin-lowry syndrome.
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Id 0 is not valid for db PubMed Id 0 is not valid for db PubMed (Id 0 is not valid for db PubMed ): [PubMed abstract].
Mutations in the STK11 gene characterize minimal deviation adenocarcinoma of the uterine cervix.
Kuragaki, C., Enomoto, T., Ueno, Y., Sun, H., Fujita, M., Nakashima, R., Ueda, Y., Wada, H., Murata, Y., Toki, T., Konishi, I., Fujii, S.
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Genetic analysis of the LKB1/STK11 gene in hepatocellular carcinomas.
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Two novel mutations and a new STK11/LKB1 gene isoform in peutz-jeghers patients.
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LKB1 somatic mutations in sporadic tumors.
Avizienyte, E., Loukola, A., Roth, S., Hemminki, A., Tarkkanen, M., Salovaara, R., Arola, J., Butzow, R., Husgafvel-Pursiainen, K., Kokkola, A., Jarvinen, H., Aaltonen, L. A.
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Somatic mutations in the peutz-jeghers (LKB1/STKII) gene in sporadic malignant melanomas.
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Last modified by Jouni Väliaho.

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