A Spectrum of ABCC6 Mutations Is Responsible for Pseudoxanthoma Elasticum

Por Le Saux, Olivier, Beck, Konstanze, Sachsinger, Christine, Silvestri, Chiara, Treiber, Carina, Göring, Harald H. H., Johnson, Eric W., De Paepe, Anne, Pope, F. Michael, Pasquali-Ronchetti, Ivonne, Bercovitch, Lionel, Terry, Sharon, Boyd, Charles D.
Publicado em 2001

Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2

Por Sykes, Bryan, Ogilvie, Donald, Wordsworth, Paul, Wallis, Gillian, Mathew, Chris, Beighton, Peter, Nicholls, Alan, Pope, F. Michael, Thompson, Elizabeth, Tsipouras, Petros, Schwartz, Robin, Jensson, Olafur, Arnason, Alfred, Børresen, Anne-Lise, Heiberg, Arvid, Frey, Daniel, Steinmann, Beat
Publicado em 1990

The Gene for Juvenile Hyaline Fibromatosis Maps to Chromosome 4q21

Por Rahman, Nazneen, Dunstan, Melanie, Teare, M. Dawn, Hanks, Sandra, Edkins, Sarah J., Hughes, Jaime, Bignell, Graham R., Mancini, Grazia, Kleijer, Wim, Campbell, Mary, Keser, Gokhan, Black, Carol, Williams, Nigel, Arbour, Laura, Warman, Matthew, Superti-Furga, Andrea, Futreal, P. Andrew, Pope, F. Michael
Publicado em 2002

Ehlers-Danlos Syndrome with Severe Early-Onset Periodontal Disease (EDS-VIII) Is a Distinct, Heterogeneous Disorder with One Predisposition Gene at Chromosome 12p13

Por Rahman, Nazneen, Dunstan, Melanie, Teare, M. Dawn, Hanks, Sandra, Douglas, Jenny, Coleman, Kim, Bottomly, William E., Campbell, Mary E., Berglund, Britta, Nordenskjöld, Magnus, Forssell, Bengt, Burrows, Nigel, Lunt, Peter, Young, Ian, Williams, Nigel, Bignell, Graham R., Futreal, P. Andrew, Pope, F. Michael
Publicado em 2003

Mutations in the Gene Encoding Capillary Morphogenesis Protein 2 Cause Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis

Por Hanks, Sandra, Adams, Sarah, Douglas, Jenny, Arbour, Laura, Atherton, David J., Balci, Sevim, Bode, Harald, Campbell, Mary E., Feingold, Murray, Keser, Gökhan, Kleijer, Wim, Mancini, Grazia, McGrath, John A., Muntoni, Francesco, Nanda, Arti, Teare, M. Dawn, Warman, Matthew, Pope, F. Michael, Superti-Furga, Andrea, Futreal, P. Andrew, Rahman, Nazneen
Publicado em 2003

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the...

Por Giunta, Cecilia, Baumann, Matthias, Fauth, Christine, Lindert, Uschi, Abdalla, Ebtesam M, Brady, Angela F, Collins, James, Dastgir, Jahannaz, Donkervoort, Sandra, Ghali, Neeti, Johnson, Diana S, Kariminejad, Ariana, Koch, Johannes, Kraenzlin, Marius, Lahiri, Nayana, Lozic, Bernarda, Manzur, Adnan Y, Morton, Jenny E V, Pilch, Jacek, Pollitt, Rebecca C, Schreiber, Gudrun, Shannon, Nora L, Sobey, Glenda, Vandersteen, Anthony, van Dijk, Fleur S, Witsch-Baumgartner, Martina, Zschocke, Johannes, Pope, F Michael, Bönnemann, Carsten G, Rohrbach, Marianne
Publicado no Genet Med (2018)

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

Por Kapferer-Seebacher, Ines, Pepin, Melanie, Werner, Roland, Aitman, Timothy J., Nordgren, Ann, Stoiber, Heribert, Thielens, Nicole, Gaboriaud, Christine, Amberger, Albert, Schossig, Anna, Gruber, Robert, Giunta, Cecilia, Bamshad, Michael, Björck, Erik, Chen, Christina, Chitayat, David, Dorschner, Michael, Schmitt-Egenolf, Marcus, Hale, Christopher J., Hanna, David, Hennies, Hans Christian, Heiss-Kisielewsky, Irene, Lindstrand, Anna, Lundberg, Pernilla, Mitchell, Anna L., Nickerson, Deborah A., Reinstein, Eyal, Rohrbach, Marianne, Romani, Nikolaus, Schmuth, Matthias, Silver, Rachel, Taylan, Fulya, Vandersteen, Anthony, Vandrovcova, Jana, Weerakkody, Ruwan, Yang, Margaret, Pope, F. Michael, Byers, Peter H., Zschocke, Johannes
Publicado no Am J Hum Genet (2016)