Pesquisa | Biblioteca Virtual em Saúde

1.

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.

Assoum, Mirna; Philippe, Christophe; Isidor, Bertrand; Perrin, Laurence; Makrythanasis, Periklis; Sondheimer, Neal; Paris, Caroline; Douglas, Jessica; Lesca, Gaetan; Antonarakis, Stylianos; Hamamy, Hanan; Jouan, Thibaud; Duffourd, Yannis; Auvin, Stéphane; Saunier, Aline; Begtrup, Amber; Nowak, Catherine; Chatron, Nicolas; Ville, Dorothée; Mireskandari, Kamiar; Milani, Paolo; Jonveaux, Philippe; Lemeur, Guylène; Milh, Mathieu; Amamoto, Masano; Kato, Mitsuhiro; Nakashima, Mitsuko; Miyake, Noriko; Matsumoto, Naomichi; Masri, Amira; Thauvin-Robinet, Christel; Rivière, Jean-Baptiste; Faivre, Laurence; Thevenon, Julien.

Am J Hum Genet; 99(6): 1368-1376, 2016 Dec 01.

Artigo em Inglês | MEDLINE | ID: mdl-27889060

2.

Hypoxia-reoxygenation enhances murine afferent arteriolar vasoconstriction by angiotensin II.

Pahlitzsch, Tamara; Liu, Zhi Zhao; Al-Masri, Amira; Braun, Diana; Dietze, Stefanie; Persson, Pontus B; Schunck, Wolf-Hagen; Blum, Maximilian; Kupsch, Eckehardt; Ludwig, Marion; Patzak, Andreas.

Am J Physiol Renal Physiol; 314(3): F430-F438, 2018 03 01.

Artigo em Inglês | MEDLINE | ID: mdl-29070570

3.

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.

Fischer-Zirnsak, Björn; Escande-Beillard, Nathalie; Ganesh, Jaya; Tan, Yu Xuan; Al Bughaili, Mohammed; Lin, Angela E; Sahai, Inderneel; Bahena, Paulina; Reichert, Sara L; Loh, Abigail; Wright, Graham D; Liu, Jaron; Rahikkala, Elisa; Pivnick, Eniko K; Choudhri, Asim F; Krüger, Ulrike; Zemojtel, Tomasz; van Ravenswaaij-Arts, Conny; Mostafavi, Roya; Stolte-Dijkstra, Irene; Symoens, Sofie; Pajunen, Leila; Al-Gazali, Lihadh; Meierhofer, David; Robinson, Peter N; Mundlos, Stefan; Villarroel, Camilo E; Byers, Peter; Masri, Amira; Robertson, Stephen P; Schwarze, Ulrike; Callewaert, Bert; Reversade, Bruno; Kornak, Uwe.

Am J Hum Genet; 97(3): 483-92, 2015 Sep 03.

Artigo em Inglês | MEDLINE | ID: mdl-26320891

4.

Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders.

Fairfield, Heather; Srivastava, Anuj; Ananda, Guruprasad; Liu, Rangjiao; Kircher, Martin; Lakshminarayana, Anuradha; Harris, Belinda S; Karst, Son Yong; Dionne, Louise A; Kane, Coleen C; Curtain, Michelle; Berry, Melissa L; Ward-Bailey, Patricia F; Greenstein, Ian; Byers, Candice; Czechanski, Anne; Sharp, Jocelyn; Palmer, Kristina; Gudis, Polyxeni; Martin, Whitney; Tadenev, Abby; Bogdanik, Laurent; Pratt, C Herbert; Chang, Bo; Schroeder, David G; Cox, Gregory A; Cliften, Paul; Milbrandt, Jeffrey; Murray, Stephen; Burgess, Robert; Bergstrom, David E; Donahue, Leah Rae; Hamamy, Hanan; Masri, Amira; Santoni, Federico A; Makrythanasis, Periklis; Antonarakis, Stylianos E; Shendure, Jay; Reinholdt, Laura G.

Genome Res; 25(7): 948-57, 2015 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-25917818

5.

Predictors of nonadherence in children and adolescents with epilepsy: A multimethod assessment approach.

Alsous, Mervat; Hamdan, Imad; Saleh, Mohammad; McElnay, James; Horne, Robert; Masri, Amira.

Epilepsy Behav; 85: 205-211, 2018 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-30032809

6.

Recurrent meningitis in children: etiologies, outcome, and lessons to learn.

Masri, Amira; Alassaf, Abeer; Khuri-Bulos, Najwa; Zaq, Imad; Hadidy, Azmy; Bakri, Faris G.

Childs Nerv Syst; 34(8): 1541-1547, 2018 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-29728757

7.

Type and etiology of pediatric epilepsy in Jordan. A multi-center study.

Al-Qudah, Abdelkarim A; Albsoul-Younes, Abla; Masri, Amira T; AbuRahmah, Samah K; Alabadi, Ibrahim A; Nafi, Omar A; Gharaibeh, Lubna F; Murtaja, Amer A; Al-Sakran, Lina H; Arabiat, Haya A; Al-Shorman, Abdallah A.

Neurosciences (Riyadh); 22(4): 267-273, 2017 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-29057851

8.

Patterns of antiepileptic drugs use in epileptic pediatric patients in Jordan.

Albsoul-Younes, Abla; Gharaibeh, Lubna; Murtaja, Amer A; Masri, Amira; Alabbadi, Ibrahim; Al-Qudah, Abdelkarim A.

Neurosciences (Riyadh); 21(3): 264-7, 2016 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-27356661

9.

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.

Zimon, Magdalena; Battaloglu, Esra; Parman, Yesim; Erdem, Sevim; Baets, Jonathan; De Vriendt, Els; Atkinson, Derek; Almeida-Souza, Leonardo; Deconinck, Tine; Ozes, Burcak; Goossens, Dirk; Cirak, Sebahattin; Van Damme, Philip; Shboul, Mohammad; Voit, Thomas; Van Maldergem, Lionel; Dan, Bernard; El-Khateeb, Mohammed S; Guergueltcheva, Velina; Lopez-Laso, Eduardo; Goemans, Nathalie; Masri, Amira; Züchner, Stephan; Timmerman, Vincent; Topaloglu, Haluk; De Jonghe, Peter; Jordanova, Albena.

Neurogenetics; 16(1): 33-42, 2015 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-25231362

10.

GLRB is the third major gene of effect in hyperekplexia.

Chung, Seo-Kyung; Bode, Anna; Cushion, Thomas D; Thomas, Rhys H; Hunt, Charlotte; Wood, Sian-Elin; Pickrell, William O; Drew, Cheney J G; Yamashita, Sumimasa; Shiang, Rita; Leiz, Steffen; Longardt, Ann-Carolyn; Longhardt, Ann-Carolyn; Raile, Vera; Weschke, Bernhard; Puri, Ratna D; Verma, Ishwar C; Harvey, Robert J; Ratnasinghe, Didi D; Parker, Michael; Rittey, Chris; Masri, Amira; Lingappa, Lokesh; Howell, Owain W; Vanbellinghen, Jean-François; Mullins, Jonathan G; Lynch, Joseph W; Rees, Mark I.

Hum Mol Genet; 22(5): 927-40, 2013 Mar 01.

Artigo em Inglês | MEDLINE | ID: mdl-23184146

11.

Dandy-Walker malformation, genitourinary abnormalities, and intellectual disability in two families.

Zaki, Maha S; Masri, Amira; Gregor, Anne; Gleeson, Joseph G; Rosti, Rasim Ozgur.

Am J Med Genet A; 167A(11): 2503-2507, 2015 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-26109232

12.

Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.

Makrythanasis, Periklis; Nelis, Mari; Santoni, Federico A; Guipponi, Michel; Vannier, Anne; Béna, Frédérique; Gimelli, Stefania; Stathaki, Elisavet; Temtamy, Samia; Mégarbané, André; Masri, Amira; Aglan, Mona S; Zaki, Maha S; Bottani, Armand; Fokstuen, Siv; Gwanmesia, Lorraine; Aliferis, Konstantinos; Bustamante Eduardo, Mariana; Stamoulis, Georgios; Psoni, Stavroula; Kitsiou-Tzeli, Sofia; Fryssira, Helen; Kanavakis, Emmanouil; Al-Allawi, Nasir; Sefiani, Abdelaziz; Al Hait, Sana'; Elalaoui, Siham C; Jalkh, Nadine; Al-Gazali, Lihadh; Al-Jasmi, Fatma; Bouhamed, Habiba Chaabouni; Abdalla, Ebtesam; Cooper, David N; Hamamy, Hanan; Antonarakis, Stylianos E.

Hum Mutat; 35(10): 1203-10, 2014 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-25044680

13.

New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.

Bode, Anna; Wood, Sian-Elin; Mullins, Jonathan G L; Keramidas, Angelo; Cushion, Thomas D; Thomas, Rhys H; Pickrell, William O; Drew, Cheney J G; Masri, Amira; Jones, Elizabeth A; Vassallo, Grace; Born, Alfred P; Alehan, Fusun; Aharoni, Sharon; Bannasch, Gerald; Bartsch, Marius; Kara, Bulent; Krause, Amanda; Karam, Elie G; Matta, Stephanie; Jain, Vivek; Mandel, Hanna; Freilinger, Michael; Graham, Gail E; Hobson, Emma; Chatfield, Sue; Vincent-Delorme, Catherine; Rahme, Jubran E; Afawi, Zaid; Berkovic, Samuel F; Howell, Owain W; Vanbellinghen, Jean-François; Rees, Mark I; Chung, Seo-Kyung; Lynch, Joseph W.

J Biol Chem; 288(47): 33745-59, 2013 Nov 22.

Artigo em Inglês | MEDLINE | ID: mdl-24108130

14.

Microarray delineation of familial chromosomal imbalance with deletion 5q35 and duplication 10q25 in a child showing multiple anomalies and dysmorphism.

Masri, Amira; Gimelli, Stefania; Hamamy, Hanan; Sloan-Béna, Frédérique.

Am J Med Genet A; 164A(5): 1254-61, 2014 May.

Artigo em Inglês | MEDLINE | ID: mdl-24478242

15.

Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.

Carta, Eloisa; Chung, Seo-Kyung; James, Victoria M; Robinson, Angela; Gill, Jennifer L; Remy, Nathalie; Vanbellinghen, Jean-François; Drew, Cheney J G; Cagdas, Sophie; Cameron, Duncan; Cowan, Frances M; Del Toro, Mireria; Graham, Gail E; Manzur, Adnan Y; Masri, Amira; Rivera, Serge; Scalais, Emmanuel; Shiang, Rita; Sinclair, Kate; Stuart, Catriona A; Tijssen, Marina A J; Wise, Grahame; Zuberi, Sameer M; Harvey, Kirsten; Pearce, Brian R; Topf, Maya; Thomas, Rhys H; Supplisson, Stéphane; Rees, Mark I; Harvey, Robert J.

J Biol Chem; 287(34): 28975-85, 2012 Aug 17.

Artigo em Inglês | MEDLINE | ID: mdl-22700964

16.

Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling.

Tian, Jing; Ling, Ling; Shboul, Mohammad; Lee, Hane; O'Connor, Brian; Merriman, Barry; Nelson, Stanley F; Cool, Simon; Ababneh, Osama H; Al-Hadidy, Azmy; Masri, Amira; Hamamy, Hanan; Reversade, Bruno.

Am J Hum Genet; 87(6): 768-78, 2010 Dec 10.

Artigo em Inglês | MEDLINE | ID: mdl-21129727

17.

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia.

Chung, Seo-Kyung; Vanbellinghen, Jean-François; Mullins, Jonathan G L; Robinson, Angela; Hantke, Janina; Hammond, Carrie L; Gilbert, Daniel F; Freilinger, Michael; Ryan, Monique; Kruer, Michael C; Masri, Amira; Gurses, Candan; Ferrie, Colin; Harvey, Kirsten; Shiang, Rita; Christodoulou, John; Andermann, Frederick; Andermann, Eva; Thomas, Rhys H; Harvey, Robert J; Lynch, Joseph W; Rees, Mark I.

J Neurosci; 30(28): 9612-20, 2010 Jul 14.

Artigo em Inglês | MEDLINE | ID: mdl-20631190

18.

Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide.

Haghighi, Alireza; Masri, Amira; Kornreich, Ruth; Desnick, Robert J.

Mol Genet Metab; 104(4): 700-2, 2011 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-21967858

19.

Etiologies, outcomes, and risk factors for epilepsy in infants: a case-control study.

Masri, Amira; Badran, Eman; Hamamy, Hanan; Assaf, Abeer; Al-Qudah, Abdelkarim A.

Clin Neurol Neurosurg; 110(4): 352-6, 2008 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-18249488

20.

Familiarity, knowledge, and attitudes towards epilepsy among attendees of a family clinic in Amman, Jordan.

Masri, Amira T; Shakhatreh, Farouq M; Yasein, Nada A; Barghouti, Farihan F; Al-Qudah, Abdelkarim A.

Neurosciences (Riyadh); 13(1): 53-6, 2008 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-21063287

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