Haplotype analysis in German families with recurrent BRCA1 and BRCA2 mutations

Por Wappenschmidt, B, Golla, A, Kempe, A, Meindl, A, Schmutzler, RK
Publicado em 2001

Human immunoglobulin kappa light chain genes of subgroups II and III.

Por Klobeck, H G, Meindl, A, Combriato, G, Solomon, A, Zachau, H G
Publicado em 1985

Low Incidence of Germline and Somatic Alterations in the E-Cadherin Gene in Lobular Breast Carcinoma

Por Schmutzler, R. K., Derakhshandeh-Peykar, P., Freihoff, D., Brandau, O., Meindl, A.
Publicado em 1999

FRAXE testing.

Por Holinski-Feder, E., Chahrokh-Zadeh, S., Jedele, K. B., Meindl, A., Steinbach, P., Wöhrle, D.
Publicado em 1996

A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9)

Por Ramser, J, Winnepenninckx, B, Lenski, C, Errijgers, V, Platzer, M, Schwartz, C, Meindl, A, Kooy, R
Publicado em 2004

A new genetic locus for X linked progressive cone-rod dystrophy

Por Jalkanen, R, Demirci, F, Tyynismaa, H, Bech-Hansen, T, Meindl, A, Peippo, M, Mantyjarvi, M, Gorin, M, Alitalo, T
Publicado em 2003

Golabi‐Ito‐Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene

Por Lubs, H, Abidi, F E, Echeverri, R, Holloway, L, Meindl, A, Stevenson, R E, Schwartz, C E
Publicado em 2006

Strong evidence that the common variant S384F in BRCA2 has no pathogenic relevance in hereditary breast cancer

Por Wappenschmidt, B, Fimmers, R, Rhiem, K, Brosig, M, Wardelmann, E, Meindl, A, Arnold, N, Mallmann, P, Schmutzler, RK
Publicado em 2005

Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism.

Por Meindl, A, Hosenfeld, D, Brückl, W, Schuffenhauer, S, Jenderny, J, Bacskulin, A, Oppermann, H C, Swensson, O, Bouloux, P, Meitinger, T
Publicado em 1993

Identification of clinically relevant gene sets and pathways using functional models of breast tumor suppression

Por Seitz, S, Korsching, E, Weimer, J, Jacobsen, A, Arnold, N, Meindl, A, Arnold, W, Gustavus, D, Klebig, C, Petersen, I, Scherneck, S
Publicado no Breast Cancer Res (2005)

Evidence for genetic heterogeneity of malignant hyperthermia susceptibility

Por Deufel, T., Golla, A., Iles, D., Meindl, A., Meitinger, T., Schindelhauer, D., DeVries, A., Pongratz, D., MacLennan, D. H., Johnson, K. J., Lehmann-Horn, F.
Publicado em 1992

Exclusion of a major role for the PTEN tumour-suppressor gene in breast carcinomas

Por Freihoff, D, Kempe, A, Beste, B, Wappenschmidt, B, Kreyer, E, Hayashi, Y, Meindl, A, Krebs, D, Wiestler, O D, Deimling, A von, Schmutzler, R K
Publicado em 1999

Somatic copy number changes in DPYD are associated with lower risk of recurrence in triple-negative breast cancers

Por Gross, E, Meul, C, Raab, S, Propping, C, Avril, S, Aubele, M, Gkazepis, A, Schuster, T, Grebenchtchikov, N, Schmitt, M, Kiechle, M, Meijer, J, Vijzelaar, R, Meindl, A, van Kuilenburg, A B P
Publicado em 2013

BTKbase, mutation database for X-linked agammaglobulinemia (XLA)

Por Vihinen, M, Belohradsky, B H, Haire, R N, Holinski-Feder, E, Kwan, S P, Lappalainen, I, Lehväslaiho, H, Lester, T, Meindl, A, Ochs, H D, Ollila, J, Vorechovsky, I, Weiss, M, Smith, C I
Publicado em 1997

An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers

Por Osorio, A, Pollán, M, Pita, G, Schmutzler, R K, Versmold, B, Engel, C, Meindl, A, Arnold, N, Preisler-Adams, S, Niederacher, D, Hofmann, W, Gadzicki, D, Jakubowska, A, Hamann, U, Lubinski, J, Toloczko-Grabarek, A, Cybulski, C, Debniak, T, Llort, G, Yannoukakos, D, Díez, O, Peissel, B, Peterlongo, P, Radice, P, Heikkinen, T, Nevanlinna, H, Mai, P L, Loud, J T, McGuffog, L, Antoniou, A C, Benitez, J
Publicado em 2008

The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

Por Sinilnikova, O M, Antoniou, A C, Simard, J, Healey, S, Léoné, M, Sinnett, D, Spurdle, A B, Beesley, J, Chen, X, Greene, M H, Loud, J T, Lejbkowicz, F, Rennert, G, Dishon, S, Andrulis, I L, Domchek, S M, Nathanson, K L, Manoukian, S, Radice, P, Konstantopoulou, I, Blanco, I, Laborde, A L, Durán, M, Osorio, A, Benitez, J, Hamann, U, Hogervorst, F B L, van Os, T A M, Gille, H J P, Peock, S, Cook, M, Luccarini, C, Evans, D G, Lalloo, F, Eeles, R, Pichert, G, Davidson, R, Cole, T, Cook, J, Paterson, J, Brewer, C, Hughes, D J, Coupier, I, Giraud, S, Coulet, F, Colas, C, Soubrier, F, Rouleau, E, Bièche, I, Lidereau, R, Demange, L, Nogues, C, Lynch, H T, Schmutzler, R K, Versmold, B, Engel, C, Meindl, A, Arnold, N, Sutter, C, Deissler, H, Schaefer, D, Froster, U G, Aittomäki, K, Nevanlinna, H, McGuffog, L, Easton, D F, Chenevix-Trench, G, Stoppa-Lyonnet, D
Publicado em 2009

Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk

Por Stevens, K N, Garcia-Closas, M, Fredericksen, Z, Kosel, M, Pankratz, V S, Hopper, J L, Dite, G S, Apicella, C, Southey, M C, Schmidt, M K, Broeks, A, Van ‘t Veer, L J, Tollenaar, R A E M, Fasching, P A, Beckmann, M W, Hein, A, Ekici, A B, Johnson, N, Peto, J, dos Santos Silva, I, Gibson, L, Sawyer, E, Tomlinson, I, Kerin, M J, Chanock, S, Lissowska, J, Hunter, D J, Hoover, R N, Thomas, G D, Milne, R L, Pérez, JI Arias, González-Neira, A, Benítez, J, Burwinkel, B, Meindl, A, Schmutzler, R K, Bartrar, C R, Hamann, U, Ko, Y D, Brüning, T, Chang-Claude, J, Hein, R, Wang-Gohrke, S, Dörk, T, Schürmann, P, Bremer, M, Hillemanns, P, Bogdanova, N, Zalutsky, J V, Rogov, Y I, Antonenkova, N, Lindblom, A, Margolin, S, Mannermaa, A, Kataja, V, Kosma, V-M, Hartikainen, J, Chenevix-Trench, G, Chen, X, Peterlongo, P, Bonanni, B, Bernard, L, Manoukian, S, Wang, X, Cerhan, J, Vachon, C M, Olson, J, Giles, G G, Baglietto, L, McLean, C A, Severi, G, John, E M, Miron, A, Winqvist, R, Pylkäs, K, Jukkola-Vuorinen, A, Grip, M, Andrulis, I, Knight, J A, Glendon, G, Mulligan, A M, Cox, A, Brock, I W, Elliott, G, Cross, S S, Pharoah, P P, Dunning, A M, Pooley, K A, Humphreys, M K, Wang, J, Kang, D, Yoo, K-Y, Noh, D-Y, Sangrajrang, S, Gabrieau, V, Brennan, P, McKay, J, Anton-Culver, H, Ziogas, A, Couch, F J, Easton, D F
Publicado em 2011

Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study

Por Jakubowska, A, Rozkrut, D, Antoniou, A, Hamann, U, Scott, R J, McGuffog, L, Healy, S, Sinilnikova, O M, Rennert, G, Lejbkowicz, F, Flugelman, A, Andrulis, I L, Glendon, G, Ozcelik, H, Thomassen, M, Paligo, M, Aretini, P, Kantala, J, Aroer, B, von Wachenfeldt, A, Liljegren, A, Loman, N, Herbst, K, Kristoffersson, U, Rosenquist, R, Karlsson, P, Stenmark-Askmalm, M, Melin, B, Nathanson, K L, Domchek, S M, Byrski, T, Huzarski, T, Gronwald, J, Menkiszak, J, Cybulski, C, Serrano, P, Osorio, A, Cajal, T R, Tsitlaidou, M, Benítez, J, Gilbert, M, Rookus, M, Aalfs, C M, Kluijt, I, Boessenkool-Pape, J L, Meijers-Heijboer, H E J, Oosterwijk, J C, van Asperen, C J, Blok, M J, Nelen, M R, van den Ouweland, A M W, Seynaeve, C, van der Luijt, R B, Devilee, P, Easton, D F, Peock, S, Frost, D, Platte, R, Ellis, S D, Fineberg, E, Evans, D G, Lalloo, F, Eeles, R, Jacobs, C, Adlard, J, Davidson, R, Eccles, D, Cole, T, Cook, J, Godwin, A, Bove, B, Stoppa-Lyonnet, D, Caux-Moncoutier, V, Belotti, M, Tirapo, C, Mazoyer, S, Barjhoux, L, Boutry-Kryza, N, Pujol, P, Coupier, I, Peyrat, J-P, Vennin, P, Muller, D, Fricker, J-P, Venat-Bouvet, L, Johannsson, O Th, Isaacs, C, Schmutzler, R, Wappenschmidt, B, Meindl, A, Arnold, N, Varon-Mateeva, R, Niederacher, D, Sutter, C, Deissler, H, Preisler-Adams, S, Simard, J, Soucy, P, Durocher, F, Chenevix-Trench, G, Beesley, J, Chen, X, Rebbeck, T, Couch, F, Wang, X, Lindor, N, Fredericksen, Z, Pankratz, V S, Peterlongo, P, Bonanni, B, Fortuzzi, S, Peissel, B, Szabo, C, Mai, P L, Loud, J T, Lubinski, J
Publicado em 2012

Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers o...

Por Osorio, A, Milne, R L, Pita, G, Peterlongo, P, Heikkinen, T, Simard, J, Chenevix-Trench, G, Spurdle, A B, Beesley, J, Chen, X, Healey, S, Neuhausen, S L, Ding, Y C, Couch, F J, Wang, X, Lindor, N, Manoukian, S, Barile, M, Viel, A, Tizzoni, L, Szabo, C I, Foretova, L, Zikan, M, Claes, K, Greene, M H, Mai, P, Rennert, G, Lejbkowicz, F, Barnett-Griness, O, Andrulis, I L, Ozcelik, H, Weerasooriya, N, Gerdes, A-M, Thomassen, M, Cruger, D G, Caligo, M A, Friedman, E, Kaufman, B, Laitman, Y, Cohen, S, Kontorovich, T, Gershoni-Baruch, R, Dagan, E, Jernström, H, Askmalm, M S, Arver, B, Malmer, B, Domchek, S M, Nathanson, K L, Brunet, J, Ramón y Cajal, T, Yannoukakos, D, Hamann, U, Hogervorst, F B L, Verhoef, S, García, EB Gómez, Wijnen, J T, van den Ouweland, A, Easton, D F, Peock, S, Cook, M, Oliver, C T, Frost, D, Luccarini, C, Evans, D G, Lalloo, F, Eeles, R, Pichert, G, Cook, J, Hodgson, S, Morrison, P J, Douglas, F, Godwin, A K, Sinilnikova, O M, Barjhoux, L, Stoppa-Lyonnet, D, Moncoutier, V, Giraud, S, Cassini, C, Olivier-Faivre, L, Révillion, F, Peyrat, J-P, Muller, D, Fricker, J-P, Lynch, H T, John, E M, Buys, S, Daly, M, Hopper, J L, Terry, M B, Miron, A, Yassin, Y, Goldgar, D, Singer, C F, Gschwantler-Kaulich, D, Pfeiler, G, Spiess, A-C, Hansen, Thomas v O, Johannsson, O T, Kirchhoff, T, Offit, K, Kosarin, K, Piedmonte, M, Rodriguez, G C, Wakeley, K, Boggess, J F, Basil, J, Schwartz, P E, Blank, S V, Toland, A E, Montagna, M, Casella, C, Imyanitov, E N, Allavena, A, Schmutzler, R K, Versmold, B, Engel, C, Meindl, A, Ditsch, N, Arnold, N, Niederacher, D, Deißler, H, Fiebig, B, Varon-Mateeva, R, Schaefer, D, Froster, U G, Caldes, T, de la Hoya, M, McGuffog, L, Antoniou, A C, Nevanlinna, H, Radice, P, Benítez, J
Publicado em 2009