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Refinado por: Nome da Publicação: Human Mutation remover assunto: Medical And Health Sciences remover assunto: Science & Technology remover Medicinska Och Farmaceutiska Grundvetenskaper remover
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Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain
Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain
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Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

Sen, Partha ; Yang, Yaping ; Navarro, Colby ; Silva, Iris ; Szafranski, Przemyslaw ; Kolodziejska, Katarzyna E. ; Dharmadhikari, Avinash V. ; Mostafa, Hasnaa ; Kozakewich, Harry ; Kearney, Debra ; Cahill, John B. ; Whitt, Merrissa ; Bilic, Masha ; Margraf, Linda ; Charles, Adrian ; Goldblatt, Jack ; Gibson, Kathleen ; Lantz, Patrick E. ; Garvin, A. Julian ; Petty, John ; Kiblawi, Zeina ; Zuppan, Craig ; McConkie-Rosell, Allyn ; McDonald, Marie T. ; Peterson-Carmichael, Stacey L. ; Gaede, Jane T. ; Shivanna, Binoy ; Schady, Deborah ; Friedlich, Philippe S. ; Hays, Stephen R. ; Palafoll, Irene Valenzuela ; Siebers-Renelt, Ulrike ; Bohring, Axel ; Finn, Laura S. ; Siebert, Joseph R. ; Galambos, Csaba ; Nguyen, Lananh ; Riley, Melissa ; Chassaing, Nicolas ; Vigouroux, Adeline ; Rocha, Gustavo ; Fernandes, Susana ; Brumbaugh, Jane ; Roberts, Kari ; Ho-ming, Luk ; Lo, Ivan F. M. ; Lam, Stephen ; Gerychova, Romana ; Jezova, Marta ; Valaskova, Iveta ; Fellmann, Florence ; Afshar, Katayoun ; Giannoni, Eric ; Muhlethaler, Vincent ; Liang, Jinlong ; Beckmann, Jacques S. ; Lioy, Janet ; Deshmukh, Hitesh ; Srinivasan, Lakshmi ; Swarr, Daniel T. ; Sloman, Melissa ; Shaw-Smith, Charles ; van Loon, Rosa Laura ; Hagman, Cecilia ; Sznajer, Yves ; Barrea, Catherine ; Galant, Christine ; Detaille, Thierry ; Wambach, Jennifer A. ; Cole, F. Sessions ; Hamvas, Aaron ; Prince, Lawrence S. ; Diderich, Karin E.M. ; Brooks, Alice S. ; Verdijk, Robert M. ; Ravindranathan, Hari ; Sugo, Ella ; Mowat, David ; Baker, Michael L. ; Langston, Claire ; Welty, Stephen ; Stankiewicz, Pawel

Human mutation, 2013-06, Vol.34 (6), p.801-811 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study
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Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study

Borg, Åke ; Haile, Robert W ; Malone, Kathleen E ; Capanu, Marinela ; Diep, Ahn ; Törngren, Therese ; Teraoka, Sharon ; Begg, Colin B ; Thomas, Duncan C ; Concannon, Patrick ; Mellemkjaer, Lene ; Bernstein, Leslie ; Tellhed, Lina ; Xue, Shanyan ; Olson, Eric R ; Liang, Xiaolin ; Dolle, Jessica ; Børresen-Dale, Anne-Lise ; Bernstein, Jonine L

Human mutation, 2010-03, Vol.31 (3), p.E1200-E1240 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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Detection and precise mapping of germline rearrangements in BRCA1, BRCA2, MSH2, and MLH1 using zoom-in array comparative genomic hybridization (aCGH)
Detection and precise mapping of germline rearrangements in BRCA1, BRCA2, MSH2, and MLH1 using zoom-in array comparative genomic hybridization (aCGH)
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Detection and precise mapping of germline rearrangements in BRCA1, BRCA2, MSH2, and MLH1 using zoom-in array comparative genomic hybridization (aCGH)

Staaf, Johan ; Törngren, Therese ; Rambech, Eva ; Johansson, Ulla ; Persson, Camilla ; Sellberg, Gunilla ; Tellhed, Lina ; Nilbert, Mef ; Borg, Åke

Human mutation, 2008-04, Vol.29 (4), p.555-564 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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Assunto 

  1. Brca2  (2)
  2. Brca1  (2)
  3. Male  (2)
  4. Mutation  (2)
  5. Alleles  (1)
  6. Acd/mpv  (1)
  7. Adaptor Proteins, Signal Transducing - Genetics  (1)
  8. Adult  (1)
  9. Amino Acid Sequence  (1)
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