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  1. 1
    (Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome

    (Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome mā Alessandro Mussa, Silvia Russo, Agostina De Crescenzo, Andrea Freschi, Luciano Calzari, Silvia Maitz, Marina Macchiaiolo, Cristina Molinatto, Giuseppina Baldassarre, Milena Mariani, Luigi Tarani, Maria Francesca Bedeschi, Donatella Milani, Daniela Melis, Andrea Bartuli, Maria Vittoria Cubellis, Angelo Selicorni, Margherita Silengo, Lidia Larizza, Andrea Riccio, Giovanni Battista Ferrero

    I whakaputaina 2015
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  2. 2
    Beckwith–Wiedemann syndrome

    Beckwith–Wiedemann syndrome mā Rosanna Weksberg, Cheryl Shuman, J. Bruce Beckwith

    I whakaputaina 2009
    Whiwhi kuputuhi katoa
    Revisão
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  3. 3
    Partial glossectomy in a patient carrier of Beckwith–Wiedemann syndrome: Presentation of a case

    Partial glossectomy in a patient carrier of Beckwith–Wiedemann syndrome: Presentation of a case mā Victor Diniz Borborema dos Santos, Gleysson Mathias de Assis, José Sandro Pereira da Silva, Adriano Rocha Germano

    I whakaputaina 2015
    Whiwhi kuputuhi katoa
    Artigo
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  4. 4
    Analysis of germline CDKN1C (p57<sup>KIP2</sup>) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation

    Analysis of germline CDKN1C (p57<sup>KIP2</sup>) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation mā Wayne Lam, Izuho Hatada, Sachiko Oh‐ishi, Tsunehiro Mukai, Johanna A. Joyce, Trevor Cole, Dian Donnai, Wolf Reik, Paul N. Schofield, Eamonn R. Maher

    I whakaputaina 1999
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  5. 5
    Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling

    Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling mā Thomas Eggermann, Frédéric Brioude, Silvia Russo, Maria Lombardi, Jet Bliek, Eamonn R. Maher, Lidia Larizza, Dirk Prawitt, Irène Netchine, Marie Gonzalès, Karen Grønskov, Zeynep Tümer, David Monk, M. Mannens, Krystyńa Chrzańowska, Malgorzata Krajewska Walasek, Matthias Begemann, Lukas Soellner, Katja Eggermann, Jair Tenorio, Julián Nevado, Gudrun E. Moore, Deborah Mackay, I. Karen Temple, Gabriele Gillessen‐Kaesbach, Tsutomu Ogata, Rosanna Weksberg, Elizabeth M. Algar, Pablo Lapunzina

    I whakaputaina 2015
    Whiwhi kuputuhi katoa
    Revisão
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  6. 6
    Mutations of the Imprinted<i>CDKN1C</i>Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

    Mutations of the Imprinted<i>CDKN1C</i>Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization mā Frédéric Brioude, Irène Netchine, Françoise Praz, Marilyne Le Jule, Claire Calmel, Didier Lacombe, Patrick Edery, Martin Catala, Sylvie Odent, Bertrand Isidor, Stanislas Lyonnet, Sabine Sigaudy, Bruno Leheup, Séverine Audebert‐Bellanger, Lydie Bürglen, Fabienne Giuliano, Jean‐Luc Alessandri, Valérie Cormier‐Daire, Fanny Laffargue, Sophie Blesson, Isabelle Coupier, James Lespinasse, Patricia Blanchet, Odile Boute, Clarisse Baumann, Michel Polak, Bérénice Doray, Alain Verloès, Géraldine Viot, Yves Le Bouc, Sylvie Rossignol

    I whakaputaina 2015
    Whiwhi kuputuhi katoa
    Artigo
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  7. 7
    Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

    Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome mā Valerie A. Arboleda, Hane Lee, Rahul Parnaik, Alice Fleming, Abhik K. Banerjee, Bruno Ferraz‐de‐Souza, Emmanuèle C. Délot, Imilce A. Rodriguez‐Fernandez, Débora Braslavsky, Ignacio Bergadá, Esteban C. Dell’Angelica, Stanley F. Nelson, Julián A. Martínez-Agosto, John C. Achermann, Éric Vilain

    I whakaputaina 2012
    Whiwhi kuputuhi katoa
    Artigo
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  8. 8
    Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome

    Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome mā Angela Sparago, Flavia Cerrato, Maria Vernucci, Giovanni Battista Ferrero, Margherita Silengo, Andrea Riccio

    I whakaputaina 2004
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  9. 9
    Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)

    Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome) mā Esther Meyer, Derek Lim, Shanaz Pasha, Louise Tee, Fatimah Rahman, John R.W. Yates, C. Geoffrey Woods, Wolf Reik, Eamonn R. Maher

    I whakaputaina 2009
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  10. 10
    Beckwith-Wiedemann Syndrome and IVF: A Case-Control Study

    Beckwith-Wiedemann Syndrome and IVF: A Case-Control Study mā Jane Halliday, Kay Oke, Sue Breheny, Elizabeth M. Algar, David J. Amor

    I whakaputaina 2004
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Carta
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  11. 11
    Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia

    Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia mā Carol L. Clericuzio, Rick A. Martin

    I whakaputaina 2009
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  12. 12
    Association between Beckwith-Wiedemann syndrome and assisted reproductive technology: A case series of 19 patients

    Association between Beckwith-Wiedemann syndrome and assisted reproductive technology: A case series of 19 patients mā Aimee S. Chang, Kelle H. Moley, Michael F. Wangler, Andrew P. Feinberg, Michael R. DeBaun

    I whakaputaina 2005
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  13. 13
    Characterization of global loss of imprinting in fetal overgrowth syndrome induced by assisted reproduction

    Characterization of global loss of imprinting in fetal overgrowth syndrome induced by assisted reproduction mā Zhiyuan Chen, Darren E. Hagen, Christine G. Elsik, Tieming Ji, Collin James Morris, Laura Emily Moon, Rocío Melissa Rivera

    I whakaputaina 2015
    Whiwhi kuputuhi katoa
    Artigo
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  14. 14
    Epigenetic deregulation of imprinting in congenital diseases of aberrant growth

    Epigenetic deregulation of imprinting in congenital diseases of aberrant growth mā Katia Delaval, Alexandre Wagschal, Robert Feil

    I whakaputaina 2006
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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  15. 15
    MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment

    MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment mā Manuela Priolo, Angela Sparago, Corrado Mammì, Flavia Cerrato, Carmelo Laganà, Andrea Riccio

    I whakaputaina 2008
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  16. 16
    Prenatal testing for uniparental disomy: indications and clinical relevance

    Prenatal testing for uniparental disomy: indications and clinical relevance mā Dieter Kotzot

    I whakaputaina 2007
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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  17. 17
    Microdeletion of LIT1 in Familial Beckwith-Wiedemann Syndrome

    Microdeletion of LIT1 in Familial Beckwith-Wiedemann Syndrome mā Emily Niemitz, Michael R. DeBaun, Jonathan Fallon, Kazuhiro Murakami, Hiroyuki Kugoh, Mitsuo Oshimura, Andrew P. Feinberg

    I whakaputaina 2004
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  18. 18
    H19DMR methylation analysis in patients with Beckwith-Wiedemann syndrome and isolated hemihyperplasia

    H19DMR methylation analysis in patients with Beckwith-Wiedemann syndrome and isolated hemihyperplasia mā Marcus Vinícius de Matos Gomes, Sílvio Avelino dos Santos, Ester Silveira Ramos

    I whakaputaina 2005
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  19. 19
    Beckwith-Wiedemann syndrome and isolated hemihyperplasia

    Beckwith-Wiedemann syndrome and isolated hemihyperplasia mā Marcus Vinícius de Matos Gomes, Ester Silveira Ramos

    I whakaputaina 2003
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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  20. 20
    Parental allele specific methylation of the human insulin-like growth factor II gene and Beckwith-Wiedemann syndrome.

    Parental allele specific methylation of the human insulin-like growth factor II gene and Beckwith-Wiedemann syndrome. mā H Schneid, Danielle Seurin, M.-P. Vazquez, M Gourmelen, S Cabrol, Yves Le Bouc

    I whakaputaina 1993
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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