Search Results - "Connell, Fiona C"

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy by Ostergaard, Pia, Simpson, Michael A., Mendola, Antonella, Vasudevan, Pradeep, Connell, Fiona C., van Impel, Andreas, Moore, Anthony T., Loeys, Bart L., Ghalamkarpour, Arash, Onoufriadis, Alexandros, Martinez-Corral, Ines, Devery, Sophie, Leroy, Jules G., van Laer, Lut, Singer, Amihood, Bialer, Martin G., McEntagart, Meriel, Quarrell, Oliver, Brice, Glen, Trembath, Richard C., Schulte-Merker, Stefan, Makinen, Taija, Vikkula, Miikka, Mortimer, Peter S., Mansour, Sahar, Jeffery, Steve

“…We have identified KIF11 mutations in individuals with syndromic autosomal-dominant microcephaly associated with lymphedema and/or chorioretinopathy. Initial…”
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Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome) by Mansour, Sahar, Ostergaard, Pia, Simpson, Michael A, Connell, Fiona C, Steward, Colin G, Brice, Glen, Woollard, Wesley J, Dafou, Dimitra, Kilo, Tatjana, Smithson, Sarah, Lunt, Peter, Murday, Victoria A, Hodgson, Shirley, Keenan, Russell, Pilz, Daniela T, Martinez-Corral, Ines, Makinen, Taija, Mortimer, Peter S, Jeffery, Steve, Trembath, Richard C

“…We report an allelic series of eight mutations in GATA2 underlying Emberger syndrome, an autosomal dominant primary lymphedema associated with a predisposition…”
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FLT4/VEGFR3 and Milroy Disease: Novel Mutations, a Review of Published Variants and Database Update by Gordon, Kristiana, Spiden, Sarah L., Connell, Fiona C., Brice, Glen, Cottrell, Sally, Short, John, Taylor, Rohan, Jeffery, Steve, Mortimer, Peter S., Mansour, Sahar, Ostergaard, Pia

“…ABSTRACT Milroy disease (MD) is an autosomal dominantly inherited primary lymphedema. In 1998, the gene locus for MD was mapped to 5q35.3 and variants in the…”
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Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations by Jones, Gabriela E, Ostergaard, Pia, Moore, Anthony T, Connell, Fiona C, Williams, Denise, Quarrell, Oliver, Brady, Angela F, Spier, Isabel, Hazan, Filiz, Moldovan, Oana, Wieczorek, Dagmar, Mikat, Barbara, Petit, Florence, Coubes, Christine, Saul, Robert A, Brice, Glen, Gordon, Kristiana, Jeffery, Steve, Mortimer, Peter S, Vasudevan, Pradeep C, Mansour, Sahar

“…Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR) (MIM No.152950) is a rare autosomal dominant condition for which a…”
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Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype by Ostergaard, Pia, Simpson, Michael A, Brice, Glen, Mansour, Sahar, Connell, Fiona C, Onoufriadis, Alexandros, Child, Anne H, Hwang, Jae, Kalidas, Kamini, Mortimer, Peter S, Trembath, Richard, Jeffery, Steve

“…Primary lymphoedema describes a chronic, frequently progressive, failure of lymphatic drainage. This disorder is frequently genetic in origin, and a…”
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FLT 4 / VEGFR 3 and Milroy Disease: Novel Mutations, a Review of Published Variants and Database Update by Gordon, Kristiana, Spiden, Sarah L., Connell, Fiona C., Brice, Glen, Cottrell, Sally, Short, John, Taylor, Rohan, Jeffery, Steve, Mortimer, Peter S., Mansour, Sahar, Ostergaard, Pia

“…Milroy disease (MD) is an autosomal dominantly inherited primary lymphedema. In 1998, the gene locus for MD was mapped to 5q35.3 and variants in the VEGFR 3 (…”
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Pierpont syndrome: A collaborative study by Wright, Emma M.M. Burkitt, Suri, Mohnish, White, Susan M., de Leeuw, Nicole, Silfhout, Anneke T. Vulto‐van, Stewart, Fiona, McKee, Shane, Mansour, Sahar, Connell, Fiona C, Chopra, Maya, Kirk, Edwin P., Devriendt, Koen, Reardon, Willie, Brunner, Han, Donnai, Dian

“…Pierpont syndrome is a multiple congenital anomaly syndrome with learning disability first described in 1998. There are only three patients with Pierpont…”
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Pierpont syndrome: A collaborative study by Wright, Emma M.M. Burkitt, Suri, Mohnish, White, Susan M., de Leeuw, Nicole, Silfhout, Anneke T. Vulto-van, Stewart, Fiona, McKee, Shane, Mansour, Sahar, Connell, Fiona C, Chopra, Maya, Kirk, Edwin P., Devriendt, Koen, Reardon, Willie, Brunner, Han, Donnai, Dian

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