The clinical spectrum of complete FBN1 allele deletions

Por Hilhorst-Hofstee, Yvonne, Hamel, Ben CJ, Verheij, Joke BGM, Rijlaarsdam, Marry EB, Mancini, Grazia MS, Cobben, Jan M, Giroth, Cindy, Ruivenkamp, Claudia AL, Hansson, Kerstin BM, Timmermans, Janneke, Moll, Henriette A, Breuning, Martijn H, Pals, Gerard
Publicado em 2011

Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene

Por van Rij, Maartje C., Jansen, Fenna A. R., Hellebrekers, Debby M. E. I., Onkenhout, W., Smeets, Hubert J. M., Hendrickx, Alexandra T., Gottschalk, Ralph W. H., Steggerda, Sylke J., Peeters‐Scholte, Cacha M. P. C. D., Haak, Monique C., Hilhorst‐Hofstee, Yvonne
Publicado no Clin Case Rep (2016)

The Clinical Spectrum of Missense Mutations of the First Aspartic Acid of cbEGF-like Domains in Fibrillin-1 Including a Recessive Family

Por Hilhorst-Hofstee, Yvonne, Rijlaarsdam, Marry EB, Scholte, Arthur JHA, Swart-van den Berg, Marietta, Versteegh, Michel IM, van der Schoot-van Velzen, Iris, Schäbitz, Hans-Joachim, Bijlsma, Emilia K, Baars, Marieke J, Kerstjens-Frederikse, Wilhelmina S, Giltay, Jacques C, Hamel, Ben C, Breuning, Martijn H, Pals, Gerard
Publicado em 2010

Inflammation Aggravates Disease Severity in Marfan Syndrome Patients

Por Radonic, Teodora, de Witte, Piet, Groenink, Maarten, de Waard, Vivian, Lutter, Rene, van Eijk, Marco, Jansen, Marnix, Timmermans, Janneke, Kempers, Marlies, Scholte, Arthur J., Hilhorst-Hofstee, Yvonne, van den Berg, Maarten P., van Tintelen, J. Peter, Pals, Gerard, Baars, Marieke J. H., Mulder, Barbara J. M., Zwinderman, Aeilko H.
Publicado em 2012

Normal regional pulse wave velocity predicts absence of aortic luminal growth in patients with Marfan syndrome: a comprehensive MRI-study

Por Kroner, Eleanore, Scholte, Arthur, Koning, Patrick, van den Boogaard, Pieter J, van der Geest, Rob J, Kroft, Lucia J M, Lamb, Hildo J, Hilhorst-Hofstee, Yvonne, Groenink, Maarten, Radonic, Teodora, Mulder, Barbara J, van der Wall, Ernst E, Bax, Jeroen J, de Roos, Albert, Reiber, Johan H, Westenberg, Jos J
Publicado em 2012

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

Por Van Dijk, Fleur S, Nesbitt, Isabel M, Nikkels, Peter G J, Dalton, Ann, Bongers, Ernie M H F, van de Kamp, Jiddeke M, Hilhorst-Hofstee, Yvonne, Den Hollander, Nicolette S, Lachmeijer, Augusta M A, Marcelis, Carlo L, Tan-Sindhunata, Gita M B, van Rijn, Rick R, Meijers-Heijboer, Hanne, Cobben, Jan M, Pals, Gerard
Publicado em 2009

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

Por Van Dijk, Fleur S, Nesbitt, Isabel M, Nikkels, Peter G J, Dalton, Ann, Bongers, Ernie M H F, van de Kamp, Jiddeke M, Hilhorst-Hofstee, Yvonne, Den Hollander, Nicolette S, Lachmeijer, Augusta M A, Marcelis, Carlo L, Tan-Sindhunata, Gita M B, van Rijn, Rick R, Meijers-Heijboer, Hanne, Cobben, Jan M, Pals, Gerard
Publicado em 2009

Subtelomeric Deletion of Chromosome 10p15.3: Clinical Findings and Molecular Cytogenetic Characterization

Por DeScipio, Cheryl, Conlin, Laura, Rosenfeld, Jill, Tepperberg, James, Pasion, Romela, Patel, Ankita, McDonald, Marie T, Aradhya, Swaroop, Ho, Darlene, Goldstein, Jennifer, McGuire, Marianne, Mulchandani, Surabhi, Medne, Livija, Rupps, Rosemarie, Serrano, Alvaro H., Thorland, Erik C, Tsai, Anne C-H, Hilhorst-Hofstee, Yvonne, Ruivenkamp, Claudia AL, Van Esch, Hilde, Addor, Marie-Claude, Martinet, Danielle, Mason, Thornton B.A., Clark, Dinah, Spinner, Nancy B, Krantz, Ian D
Publicado em 2012