Search Results - "KIDD, Alexa"

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome by Veltman, Joris A, Hoischen, Alexander, van Bon, Bregje W M, Gilissen, Christian, Arts, Peer, van Lier, Bart, Steehouwer, Marloes, de Vries, Petra, de Reuver, Rick, Wieskamp, Nienke, Mortier, Geert, Devriendt, Koen, Amorim, Marta Z, Revencu, Nicole, Kidd, Alexa, Barbosa, Mafalda, Turner, Anne, Smith, Janine, Oley, Christina, Henderson, Alex, Hayes, Ian M, Thompson, Elizabeth M, Brunner, Han G, de Vries, Bert B A

“…Schinzel-Giedion syndrome is characterized by severe mental retardation, distinctive facial features and multiple congenital malformations; most affected…”
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Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations by Johnston, Jennifer J, Sapp, Julie C, Turner, Joyce T, Amor, David, Aftimos, Salim, Aleck, Kyrieckos A, Bocian, Maureen, Bodurtha, Joann N, Cox, Gerald F, Curry, Cynthia J, Day, Ruth, Donnai, Dian, Field, Michael, Fujiwara, Ikuma, Gabbett, Michael, Gal, Moran, Graham, John M, Hedera, Peter, Hennekam, Raoul C.M, Hersh, Joseph H, Hopkin, Robert J, Kayserili, Hülya, Kidd, Alexa M.J, Kimonis, Virginia, Lin, Angela E, Lynch, Sally Ann, Maisenbacher, Melissa, Mansour, Sahar, McGaughran, Julie, Mehta, Lakshmi, Murphy, Helen, Raygada, Margarita, Robin, Nathaniel H, Rope, Alan F, Rosenbaum, Kenneth N, Schaefer, G. Bradley, Shealy, Amy, Smith, Wendy, Soller, Maria, Sommer, Annmarie, Stalker, Heather J, Steiner, Bernhard, Stephan, Mark J, Tilstra, David, Tomkins, Susan, Trapane, Pamela, Tsai, Anne Chun-Hui, Van Allen, Margot I, Vasudevan, Pradeep C, Zabel, Bernhard, Zunich, Janice, Black, Graeme C.M, Biesecker, Leslie G

“…A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To…”
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Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B by Méhes, Károly, Shannon, Nora, FitzPatrick, David, Reid, Sarah, Douglas, Jenny, Firth, Helen, Plaja, Alberto, Robin, Nathanial, Irrthum, Alexandre, Nash, Richard, Tolmie, John, Kidd, Alexa, Swansbury, John, Coleman, Kim, Hanks, Sandra, Rahman, Nazneen

“…Mosaic variegated aneuploidy is a rare recessive condition characterized by growth retardation, microcephaly, childhood cancer and constitutional mosaicism for…”
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Further characterization of ATP6V0A2-related autosomal recessive cutis laxa by Fischer, Björn, Dimopoulou, Aikaterini, Egerer, Johannes, Gardeitchik, Thatjana, Kidd, Alexa, Jost, Dominik, Kayserili, Hülya, Alanay, Yasemin, Tantcheva-Poor, Iliana, Mangold, Elisabeth, Daumer-Haas, Cornelia, Phadke, Shubha, Peirano, Reto I., Heusel, Julia, Desphande, Charu, Gupta, Neerja, Nanda, Arti, Felix, Emma, Berry-Kravis, Elisabeth, Kabra, Madhulika, Wevers, Ron A., van Maldergem, Lionel, Mundlos, Stefan, Morava, Eva, Kornak, Uwe

“…Autosomal recessive cutis laxa (ARCL) syndromes are phenotypically overlapping, but genetically heterogeneous disorders. Mutations in the ATP6V0A2 gene were…”
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The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males by Twigg, Stephen R.F., Matsumoto, Kazuya, Kidd, Alexa M.J., Goriely, Anne, Taylor, Indira B., Fisher, Richard B., Hoogeboom, A. Jeannette M., Mathijssen, Irene M.J., Lourenço, M. Teresa, Morton, Jenny E.V., Sweeney, Elizabeth, Wilson, Louise C., Brunner, Han G., Mulliken, John B., Wall, Steven A., Wilkie, Andrew O.M.

“…Craniofrontonasal syndrome (CFNS) is an X-linked disorder that exhibits a paradoxical sex reversal in phenotypic severity: females characteristically have…”
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Cantú syndrome: Report of nine new cases and expansion of the clinical phenotype by Scurr, Ingrid, Wilson, Louise, Lees, Melissa, Robertson, Stephen, Kirk, Edwin, Turner, Anne, Morton, John, Kidd, Alexa, Shashi, Vandana, Stanley, Christy, Berry, Margaret, Irvine, Alan D., Goudie, David, Turner, Claire, Brewer, Carole, Smithson, Sarah

“…Cantú syndrome, a rare disorder of congenital hypertrichosis, characteristic facial anomalies, cardiomegaly, and osteochondrodysplasia was first described in…”
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The New Zealand Neuromuscular Disease Registry by Rodrigues, Miriam, Hammond-Tooke, Graeme, Kidd, Alexa, Love, Donald, Patel, Rakesh, Dawkins, Hugh, Bellgard, Matthew, Roxburgh, Richard

“…Abstract The development of effective treatments for neuromuscular diseases is a significant challenge due to difficulties in identifying adequate numbers of…”
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Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog by BYRNES, Ashley M, RACACHO, Lemuel, BULMAN, Dennis E, GRIMSEY, Allison, HUDGINS, Louanne, KWAN, Andrea C, SANGALLI, Michel, KIDD, Alexa, YARON, Yuval, LAU, Yu-Lung, NIKKEL, Sarah M

“…Mutations in the gene Indian Hedgehog (IHH) that cause Brachydactyly A-1 (BDA1) have been restricted to a specific region of the N-terminal active fragment of…”
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Neonatal Hyperparathyroidism and Pamidronate Therapy in an Extremely Premature Infant by Fox, Lisa, Sadowsky, Joel, Pringle, Kevin P, Kidd, Alexa, Murdoch, Jean, Cole, David E.C, Wiltshire, Esko

“…We describe the use of pamidronate to control marked hypercalcemia in an extremely premature infant with neonatal hyperparathyroidism that resulted from an…”
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De novo deletion within the telomeric region flanking the human α globin locus as a cause of α thalassaemia by Viprakasit, Vip, Kidd, Alexa M. J., Ayyub, Helena, Horsley, Sharon, Hughes, Jim, Higgs, Douglas R.

“…We have identified and characterized a Scottish individual with α thalassaemia, resulting from a de novo 48 kilobase (kb) deletion from the telomeric flanking…”
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The New Zealand Neuromuscular Disease Patient Registry; Five Years and a Thousand Patients by Rodrigues, Miriam J, O'Grady, Gina L, Hammond-Tooke, Graeme, Kidd, Alexa, Love, Donald O, Baker, Ronelle K, Roxburgh, Richard H

“…The New Zealand Neuromuscular Disease Patient Registry has been recruiting for five years. Its primary aim is to enable people with neuromuscular disease to…”
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Rare Complete and Partial Monosomy 7 Mosaicism Detected in a Case with FTT and Borderline Motor Delay, Subsequently Diagnosed with Juvenile MDS: An Exposition of this Case and Other Interesting Mosaic Cancer Case Studies by Bickley, Vivienne M, Parker, Elsa M, Taylor, Jill C, Watt, Jane E, Robertson, Monique D, Doudney, Kit W.E, Cross, Siobhan, Townsend, Janine, Kidd, Alexa M.J, George, Peter M

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Abstract 010: Phosphodiesterase 3a Catalytic-domain Mutants Cause Hypertension With Brachydactyly by Kayser, Charlotte, Bock, Andreas, Leeuwen, Lisette, Herkert, Johanna, Vos, Yvonne, Kidd, Alexa, Aydin, Atakan, Daumke, Oliver, Lohse, Martin, Luft, Friedrich C

“…Abstract only Mendelian syndromes give great insight into pathogenesis and have implicated salt handling. Hypertension with brachydactyly (HTNB) is unique in…”
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Clinical, pathological and genetic characteristics of Perry disease—new cases and literature review by Dulski, Jarosław, Cerquera‐Cleves, Catalina, Milanowski, Lukasz, Kidd, Alexa, Sitek, Emilia J., Strongosky, Audrey, Vanegas Monroy, Ana María, Dickson, Dennis W., Ross, Owen A., Pentela‐Nowicka, Jolanta, Sławek, Jarosław, Wszolek, Zbigniew K.

“…Background and purpose Perry disease (or Perry syndrome) is an autosomal dominant neurodegenerative disorder characterized by parkinsonism, neuropsychiatric…”
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Mutant Phosphodiesterase 3A Protects From Hypertension-Induced Cardiac Damage by Ercu, Maria, Mücke, Michael B., Pallien, Tamara, Markó, Lajos, Sholokh, Anastasiia, Schächterle, Carolin, Aydin, Atakan, Kidd, Alexa, Walter, Stephan, Esmati, Yasmin, McMurray, Brandon J., Lato, Daniella F., Yumi Sunaga-Franze, Daniele, Dierks, Philip H., Flores, Barbara Isabel Montesinos, Walker-Gray, Ryan, Gong, Maolian, Merticariu, Claudia, Zühlke, Kerstin, Russwurm, Michael, Liu, Tiannan, Batolomaeus, Theda U.P., Pautz, Sabine, Schelenz, Stefanie, Taube, Martin, Napieczynska, Hanna, Heuser, Arnd, Eichhorst, Jenny, Lehmann, Martin, Miller, Duncan C., Diecke, Sebastian, Qadri, Fatimunnisa, Popova, Elena, Langanki, Reika, Movsesian, Matthew A., Herberg, Friedrich W., Forslund, Sofia K., Müller, Dominik N., Borodina, Tatiana, Maass, Philipp G., Bähring, Sylvia, Hübner, Norbert, Bader, Michael, Klussmann, Enno

“…Phosphodiesterase 3A ( ) gain-of-function mutations cause hypertension with brachydactyly (HTNB) and lead to stroke. Increased peripheral vascular resistance,…”
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Hormonal Contraception and Breast Cancer Risk for Carriers of Germline Mutations in BRCA1 and BRCA2 by Phillips, Kelly-Anne, Kotsopoulos, Joanne, Domchek, Susan M, Terry, Mary Beth, Chamberlain, James A, Bassett, Julie K, Aeilts, Amber M, Andrulis, Irene L, Buys, Saundra S, Cui, Wanda, Daly, Mary B, Eisen, Andrea F, Foulkes, William D, Friedlander, Michael L, Gronwald, Jacek, Hopper, John L, John, Esther M, Karlan, Beth Y, Kim, Raymond H, Kurian, Allison W, Lubinski, Jan, Metcalfe, Kelly, Nathanson, Katherine L, Singer, Christian F, Southey, Melissa C, Symecko, Heather, Tung, Nadine, Narod, Steven A, Milne, Roger L

“…It is uncertain whether, and to what extent, hormonal contraceptives increase breast cancer (BC) risk for germline or mutation carriers. Using pooled…”
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Phosphodiesterase 3A activation for cardioprotection by Ercu, Maria, Mücke, Michael, Pallien, Tamara, Marko, Lajos, Sholokh, Anastasiia, Aydin, Atakan, Kidd, Alexa, Walter, Stephan, Esmati, Yasmin, McMurray, Brandon, Lato, Daniella, Sunaga-Franze, Daniele Yumi, Gong, Maolian, Merticariu, Claudia, Zühlke, Kerstin, Russwurm, Michael, Liu, Tiannan, Bartolomaeus, Theda, Schelenz, Stefanie, Taube, Martin, Napieczynska, Hanna, Heuser, Arnd, Lehmann, Martin, Qadri, Fatimunnisa, Popova, Elena, Langanki, Reika, Forslund, Sofia, Müller, Dominik, Borodina, Tatiana, Bähring, Sylvia, Maass, Philipp, Hübner, Norbert, Luft, Friedrich, Bader, Michael, Klussmann, Enno

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PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families by Guimier, Anne, Achleitner, Melanie T., Moreau de Bellaing, Anne, Edwards, Matthew, de Pontual, Loïc, Mittal, Kirti, Dunn, Kyla E., Grove, Megan E., Tysoe, Carolyn J., Dimartino, Clémantine, Cameron, Jessie, Kanthi, Anil, Shukla, Anju, van den Broek, Florence, Chatterjee, Diptendu, Alston, Charlotte L., Knowles, Charlotte V., Brett, Laura, Till, Jan A., Homfray, Tessa, French, Paul, Spentzou, Georgia, Elserafy, Noha A., Lichkus, Kate S., Sankaran, Bindu P., Kennedy, Hannah L., George, Peter M., Kidd, Alexa, Wortmann, Saskia B., Fisk, Dianna G., Koopmann, Tamara T., Rafiq, Muhammad A., Merker, Jason D., Parikh, Sumith, Ahimaz, Priyanka, Weintraub, Robert G., Ma, Alan S., Turner, Christian, Ellaway, Carolyn J., Phillips, Liza K., Thorburn, David R., Chung, Wendy K., Kana, Sajel L., Faye-Petersen, Ona M., Thompson, Michelle L., Janin, Alexandre, McLeod, Karen, McGowan, Ruth, McFarland, Robert, Girisha, Katta M., Morris-Rosendahl, Deborah J., Hurst, Anna C. E., Turner, Claire L. S., Hamilton, Robert M., Taylor, Robert W., Bajolle, Fanny, Gordon, Christopher T., Amiel, Jeanne, Mayr, Johannes A., Doudney, Kit

“…Purpose Biallelic hypomorphic variants in PPA2 , encoding the mitochondrial inorganic pyrophosphatase 2 protein, have been recently identified in individuals…”
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Abstract 039: The PDE3A Gene Regulates Blood Pressure by Luft, Friedrich C, Ercu, Maria, Schächterle, Carolin, Marko, Lajos, Maass, Philipp, Zühlke, Kerstin, Kidd, Alexa M, Gregersen, Nerine, Hübner, Norbert, Hodge, Russell, Molé Illas, Rosana, Walter, Stephan, Preissner, Robert, Heuser, Arnd, Anistan, Yoland-Marie, Tsvetkov, Dmitry, Todiras, Mihail, Popova, Elena, Forslund, Sofia, Müller, Dominik N, Gollasch, Maik, Aydin, Atakan, Bähring, Sylvia, Bader, Michael, Klussmann, Enno

“…Abstract only Hypertension is the greatest driver of cardiovascular disease, the most common cause of death. Finding novel model mechanisms for blood-pressure…”
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Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations by Stutterd, Chloe A., Kidd, Alexa, Florkowski, Chris, Janus, Edward, Fanjul, Miriam, Raizis, Anthony, Wu, Teddy Y., Archer, John, Leventer, Richard J., Amor, David J., Lukic, Vesna, Bahlo, Melanie, Gow, Paul, Lockhart, Paul J., Knaap, Marjo S., Delatycki, Martin B.

“…Pathogenic heterozygous variants in HMBS encoding the enzyme hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase, cause acute…”
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