Búsqueda | Portal de Búsqueda de la BVS España

1.

De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.

Lu, Shenzhao; Ma, Mengqi; Mao, Xiao; Bacino, Carlos A; Jankovic, Joseph; Sutton, V Reid; Bartley, James A; Wang, Xueying; Rosenfeld, Jill A; Beleza-Meireles, Ana; Chauhan, Jaynee; Pan, Xueyang; Li, Megan; Liu, Pengfei; Prescott, Katrina; Amin, Sam; Davies, George; Wangler, Michael F; Dai, Yuwei; Bellen, Hugo J.

Am J Hum Genet; 109(10): 1932-1943, 2022 10 06.

Artículo en Inglés | MEDLINE | ID: mdl-36206744

2.

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

Vissers, Lisenka E L M; Kalvakuri, Sreehari; de Boer, Elke; Geuer, Sinje; Oud, Machteld; van Outersterp, Inge; Kwint, Michael; Witmond, Melde; Kersten, Simone; Polla, Daniel L; Weijers, Dilys; Begtrup, Amber; McWalter, Kirsty; Ruiz, Anna; Gabau, Elisabeth; Morton, Jenny E V; Griffith, Christopher; Weiss, Karin; Gamble, Candace; Bartley, James; Vernon, Hilary J; Brunet, Kendra; Ruivenkamp, Claudia; Kant, Sarina G; Kruszka, Paul; Larson, Austin; Afenjar, Alexandra; Billette de Villemeur, Thierry; Nugent, Kimberly; Raymond, F Lucy; Venselaar, Hanka; Demurger, Florence; Soler-Alfonso, Claudia; Li, Dong; Bhoj, Elizabeth; Hayes, Ian; Hamilton, Nina Powell; Ahmad, Ayesha; Fisher, Rachel; van den Born, Myrthe; Willems, Marjolaine; Sorlin, Arthur; Delanne, Julian; Moutton, Sebastien; Christophe, Philippe; Mau-Them, Frederic Tran; Vitobello, Antonio; Goel, Himanshu; Massingham, Lauren; Phornphutkul, Chanika.

Am J Hum Genet; 107(1): 164-172, 2020 07 02.

Artículo en Inglés | MEDLINE | ID: mdl-32553196

3.

Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.

Lee, Brendan; Diaz, George A; Rhead, William; Lichter-Konecki, Uta; Feigenbaum, Annette; Berry, Susan A; Le Mons, Cindy; Bartley, James A; Longo, Nicola; Nagamani, Sandesh C; Berquist, William; Gallagher, Renata; Bartholomew, Dennis; Harding, Cary O; Korson, Mark S; McCandless, Shawn E; Smith, Wendy; Cederbaum, Stephen; Wong, Derek; Merritt, J Lawrence; Schulze, Andreas; Vockley, Jerry; Vockley, Gerard; Kronn, David; Zori, Roberto; Summar, Marshall; Milikien, Douglas A; Marino, Miguel; Coakley, Dion F; Mokhtarani, Masoud; Scharschmidt, Bruce F.

Genet Med; 17(7): 561-8, 2015 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-25503497

4.

Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials.

Nagamani, Sandesh C S; Diaz, George A; Rhead, William; Berry, Susan A; Le Mons, Cynthia; Lichter-Konecki, Uta; Bartley, James; Feigenbaum, Annette; Schulze, Andreas; Longo, Nicola; Berquist, William; Gallagher, Renata; Bartholomew, Dennis; Harding, Cary O; Korson, Mark S; McCandless, Shawn E; Smith, Wendy; Vockley, Jerry; Kronn, David; Zori, Robert; Cederbaum, Stephen; Merritt, J Lawrence; Wong, Derek; Coakley, Dion F; Scharschmidt, Bruce F; Dickinson, Klara; Marino, Miguel; Lee, Brendan H; Mokhtarani, Masoud.

Mol Genet Metab; 116(1-2): 29-34, 2015.

Artículo en Inglés | MEDLINE | ID: mdl-26296711

5.

Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate.

Diaz, George A; Krivitzky, Lauren S; Mokhtarani, Masoud; Rhead, William; Bartley, James; Feigenbaum, Annette; Longo, Nicola; Berquist, William; Berry, Susan A; Gallagher, Renata; Lichter-Konecki, Uta; Bartholomew, Dennis; Harding, Cary O; Cederbaum, Stephen; McCandless, Shawn E; Smith, Wendy; Vockley, Gerald; Bart, Stephen A; Korson, Mark S; Kronn, David; Zori, Roberto; Merritt, J Lawrence; C S Nagamani, Sandesh; Mauney, Joseph; Lemons, Cynthia; Dickinson, Klara; Moors, Tristen L; Coakley, Dion F; Scharschmidt, Bruce F; Lee, Brendan.

Hepatology; 57(6): 2171-9, 2013 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-22961727

6.

Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation.

Miyake, Noriko; Yano, Shoji; Sakai, Chika; Hatakeyama, Hideyuki; Matsushima, Yuichi; Shiina, Masaaki; Watanabe, Yoriko; Bartley, James; Abdenur, Jose E; Wang, Raymond Y; Chang, Richard; Tsurusaki, Yoshinori; Doi, Hiroshi; Nakashima, Mitsuko; Saitsu, Hirotomo; Ogata, Kazuhiro; Goto, Yu-Ichi; Matsumoto, Naomichi.

Hum Mutat; 34(3): 446-52, 2013 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-23281071

7.

Protein and calorie intakes in adult and pediatric subjects with urea cycle disorders participating in clinical trials of glycerol phenylbutyrate.

Hook, Debra; Diaz, George A; Lee, Brendan; Bartley, James; Longo, Nicola; Berquist, William; Le Mons, Cynthia; Rudolph-Angelich, Ingrid; Porter, Marty; Scharschmidt, Bruce F; Mokhtarani, Masoud.

Mol Genet Metab Rep; 6: 34-40, 2016 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-27014577

8.

Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements.

Sahoo, Trilochan; Wang, Jia-Chi; Elnaggar, Mohamed M; Sanchez-Lara, Pedro; Ross, Leslie P; Mahon, Loretta W; Hafezi, Katayoun; Deming, Abigail; Hinman, Lynne; Bruno, Yovana; Bartley, James A; Liehr, Thomas; Anguiano, Arturo; Jones, Marilyn.

Eur J Hum Genet; 23(1): 61-6, 2015 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-24713661

9.

Scurvy in New Zealand-a forgotten disease.

Bartley, James.

N Z Med J; 130(1454): 86-87, 2017 04 28.

Artículo en Inglés | MEDLINE | ID: mdl-28449021

10.

Correlation of nasal morphology to air-conditioning and clearance function.

White, David E; Al-Jumaily, Ahmed M; Bartley, James; Lu, Jun.

Respir Physiol Neurobiol; 179(2-3): 137-41, 2011 Dec 15.

Artículo en Inglés | MEDLINE | ID: mdl-21802532

11.

Nasal levels of nitric oxide as an outcome variable in allergic upper respiratory tract disease: Influence of atopy and hayfever on nNO.

Moody, Alison; Fergusson, Wendy; Wells, Athol; Bartley, James; Kolbe, John.

Am J Rhinol; 20(5): 425-9, 2006.

Artículo en Inglés | MEDLINE | ID: mdl-17063731

12.

Partial hexasomy of chromosome 15.

Huang, Bing; Bartley, James.

Am J Med Genet A; 121A(3): 277-80, 2003 Sep 01.

Artículo en Inglés | MEDLINE | ID: mdl-12923871

Portal de Búsqueda de la BVS España

Información y Conocimiento para la Salud

Configurar filtros

Su selección (0)

Formato de exportación:

Exportar: