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1.

Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1.

El-Bazzal, Lara; Rihan, Khalil; Bernard-Marissal, Nathalie; Castro, Christel; Chouery-Khoury, Eliane; Desvignes, Jean-Pierre; Atkinson, Alexandre; Bertaux, Karine; Koussa, Salam; Lévy, Nicolas; Bartoli, Marc; Mégarbané, André; Jabbour, Rosette; Delague, Valérie.

Hum Mol Genet; 28(14): 2378-2394, 2019 07 15.

Artigo em Inglês | MEDLINE | ID: mdl-31090908

2.

Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men.

Auguste, Yasmina; Delague, Valérie; Desvignes, Jean-Pierre; Longepied, Guy; Gnisci, Audrey; Besnier, Pierre; Levy, Nicolas; Beroud, Christophe; Megarbane, André; Metzler-Guillemain, Catherine; Mitchell, Michael J.

Am J Hum Genet; 103(3): 413-420, 2018 Sep 06.

Artigo em Inglês | MEDLINE | ID: mdl-30122541

3.

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.

Rainger, Joe; van Beusekom, Ellen; Ramsay, Jacqueline K; McKie, Lisa; Al-Gazali, Lihadh; Pallotta, Rosanna; Saponari, Anita; Branney, Peter; Fisher, Malcolm; Morrison, Harris; Bicknell, Louise; Gautier, Philippe; Perry, Paul; Sokhi, Kishan; Sexton, David; Bardakjian, Tanya M; Schneider, Adele S; Elcioglu, Nursel; Ozkinay, Ferda; Koenig, Rainer; Mégarbané, Andre; Semerci, C Nur; Khan, Ayesha; Zafar, Saemah; Hennekam, Raoul; Sousa, Sérgio B; Ramos, Lina; Garavelli, Livia; Furga, Andrea Superti; Wischmeijer, Anita; Jackson, Ian J; Gillessen-Kaesbach, Gabriele; Brunner, Han G; Wieczorek, Dagmar; van Bokhoven, Hans; FitzPatrick, David R.

PLoS Genet; 14(12): e1007866, 2018 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-30586382

4.

Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.

Ansar, Muhammad; Paracha, Sohail Aziz; Serretti, Alessandro; Sarwar, Muhammad T; Khan, Jamshed; Ranza, Emmanuelle; Falconnet, Emilie; Iwaszkiewicz, Justyna; Shah, Sayyed Fahim; Qaisar, Azhar Ali; Santoni, Federico A; Zoete, Vincent; Megarbane, Andre; Ahmed, Jawad; Colombo, Roberto; Makrythanasis, Periklis; Antonarakis, Stylianos E.

Hum Mol Genet; 2018 Nov 26.

Artigo em Inglês | MEDLINE | ID: mdl-30481285

5.

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).

Pareyson, Davide; Stojkovic, Tanya; Reilly, Mary M; Leonard-Louis, Sarah; Laurà, Matilde; Blake, Julian; Parman, Yesim; Battaloglu, Esra; Tazir, Meriem; Bellatache, Mounia; Bonello-Palot, Nathalie; Lévy, Nicolas; Sacconi, Sabrina; Guimarães-Costa, Raquel; Attarian, Sharham; Latour, Philippe; Solé, Guilhem; Megarbane, André; Horvath, Rita; Ricci, Giulia; Choi, Byung-Ok; Schenone, Angelo; Gemelli, Chiara; Geroldi, Alessandro; Sabatelli, Mario; Luigetti, Marco; Santoro, Lucio; Manganelli, Fiore; Quattrone, Aldo; Valentino, Paola; Murakami, Tatsufumi; Scherer, Steven S; Dankwa, Lois; Shy, Michael E; Bacon, Chelsea J; Herrmann, David N; Zambon, Alberto; Tramacere, Irene; Pisciotta, Chiara; Magri, Stefania; Previtali, Stefano C; Bolino, Alessandra.

Ann Neurol; 86(1): 55-67, 2019 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-31070812

6.

Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy.

Nguyen, Karine; Broucqsault, Natacha; Chaix, Charlene; Roche, Stephane; Robin, Jérôme D; Vovan, Catherine; Gerard, Laurene; Mégarbané, André; Urtizberea, Jon Andoni; Bellance, Remi; Barnérias, Christine; David, Albert; Eymard, Bruno; Fradin, Melanie; Manel, Véronique; Sacconi, Sabrina; Tiffreau, Vincent; Zagnoli, Fabien; Cuisset, Jean-Marie; Salort-Campana, Emmanuelle; Attarian, Shahram; Bernard, Rafaëlle; Lévy, Nicolas; Magdinier, Frederique.

J Med Genet; 56(9): 590-601, 2019 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-31010831

7.

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.

Laitman, Yael; Friebel, Tara M; Yannoukakos, Drakoulis; Fostira, Florentia; Konstantopoulou, Irene; Figlioli, Gisella; Bonanni, Bernardo; Manoukian, Siranoush; Zuradelli, Monica; Tondini, Carlo; Pasini, Barbara; Peterlongo, Paolo; Plaseska-Karanfilska, Dijana; Jakimovska, Milena; Majidzadeh, Keivan; Zarinfam, Shiva; Loizidou, Maria A; Hadjisavvas, Andreas; Michailidou, Kyriaki; Kyriacou, Kyriacos; Behar, Doron M; Molho, Rinat Bernstein; Ganz, Patricia; James, Paul; Parsons, Michael T; Sallam, Aminah; Olopade, Olufunmilayo I; Seth, Arun; Chenevix-Trench, Georgia; Leslie, Goska; McGuffog, Lesley; Marafie, Makia J; Megarbane, Andre; Al-Mulla, Fahd; Rebbeck, Timothy R; Friedman, Eitan.

Hum Mutat; 40(11): e1-e23, 2019 11.

Artigo em Inglês | MEDLINE | ID: mdl-31209999

8.

Vibratory Urticaria Associated with a Missense Variant in ADGRE2.

Boyden, Steven E; Desai, Avanti; Cruse, Glenn; Young, Michael L; Bolan, Hyejeong C; Scott, Linda M; Eisch, A Robin; Long, R Daniel; Lee, Chyi-Chia R; Satorius, Colleen L; Pakstis, Andrew J; Olivera, Ana; Mullikin, James C; Chouery, Eliane; Mégarbané, André; Medlej-Hashim, Myrna; Kidd, Kenneth K; Kastner, Daniel L; Metcalfe, Dean D; Komarow, Hirsh D.

N Engl J Med; 374(7): 656-63, 2016 Feb 18.

Artigo em Inglês | MEDLINE | ID: mdl-26841242

9.

Cornelia de Lange syndrome in diverse populations.

Dowsett, Leah; Porras, Antonio R; Kruszka, Paul; Davis, Brandon; Hu, Tommy; Honey, Engela; Badoe, Eben; Thong, Meow-Keong; Leon, Eyby; Girisha, Katta M; Shukla, Anju; Nayak, Shalini S; Shotelersuk, Vorasuk; Megarbane, Andre; Phadke, Shubha; Sirisena, Nirmala D; Dissanayake, Vajira H W; Ferreira, Carlos R; Kisling, Monisha S; Tanpaiboon, Pranoot; Uwineza, Annette; Mutesa, Leon; Tekendo-Ngongang, Cedrik; Wonkam, Ambroise; Fieggen, Karen; Batista, Leticia Cassimiro; Moretti-Ferreira, Danilo; Stevenson, Roger E; Prijoles, Eloise J; Everman, David; Clarkson, Kate; Worthington, Jessica; Kimonis, Virginia; Hisama, Fuki; Crowe, Carol; Wong, Paul; Johnson, Kisha; Clark, Robin D; Bird, Lynne; Masser-Frye, Diane; McDonald, Marie; Willems, Patrick; Roeder, Elizabeth; Saitta, Sulgana; Anyane-Yeoba, Kwame; Demmer, Laurie; Hamajima, Naoki; Stark, Zornitza; Gillies, Greta; Hudgins, Louanne.

Am J Med Genet A; 179(2): 150-158, 2019 02.

Artigo em Inglês | MEDLINE | ID: mdl-30614194

10.

Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes.

Jaeckle Santos, Lane J; Xing, Chao; Barnes, Robert B; Ades, Lesley C; Megarbane, Andre; Vidal, Christopher; Xuereb, Angela; Tarpey, Patrick S; Smith, Raffaella; Khazab, Mahmoud; Shoubridge, Cheryl; Partington, Michael; Futreal, Andrew; Stratton, Michael R; Gecz, Jozef; Zinn, Andrew R.

Hum Genet; 123(5): 469-76, 2008 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-18404279

11.

Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).

Bramswig, Nuria C; Bertoli-Avella, Aida M; Albrecht, Beate; Al Aqeel, Aida I; Alhashem, Amal; Al-Sannaa, Nouriya; Bah, Maissa; Bröhl, Katharina; Depienne, Christel; Dorison, Nathalie; Doummar, Diane; Ehmke, Nadja; Elbendary, Hasnaa M; Gorokhova, Svetlana; Héron, Delphine; Horn, Denise; James, Kiely; Keren, Boris; Kuechler, Alma; Ismail, Samira; Issa, Mahmoud Y; Marey, Isabelle; Mayer, Michèle; McEvoy-Venneri, Jennifer; Megarbane, Andre; Mignot, Cyril; Mohamed, Sarar; Nava, Caroline; Philip, Nicole; Ravix, Cecile; Rolfs, Arndt; Sadek, Abdelrahim Abdrabou; Segebrecht, Lara; Stanley, Valentina; Trautman, Camille; Valence, Stephanie; Villard, Laurent; Wieland, Thomas; Engels, Hartmut; Strom, Tim M; Zaki, Maha S; Gleeson, Joseph G; Lüdecke, Hermann-Josef; Bauer, Peter; Wieczorek, Dagmar.

Hum Genet; 137(9): 753-768, 2018 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-30167850

12.

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.

Alby, Caroline; Piquand, Kevin; Huber, Céline; Megarbané, André; Ichkou, Amale; Legendre, Marine; Pelluard, Fanny; Encha-Ravazi, Ferechté; Abi-Tayeh, Georges; Bessières, Bettina; El Chehadeh-Djebbar, Salima; Laurent, Nicole; Faivre, Laurence; Sztriha, László; Zombor, Melinda; Szabó, Hajnalka; Failler, Marion; Garfa-Traore, Meriem; Bole, Christine; Nitschké, Patrick; Nizon, Mathilde; Elkhartoufi, Nadia; Clerget-Darpoux, Françoise; Munnich, Arnold; Lyonnet, Stanislas; Vekemans, Michel; Saunier, Sophie; Cormier-Daire, Valérie; Attié-Bitach, Tania; Thomas, Sophie.

Am J Hum Genet; 97(2): 311-8, 2015 Aug 06.

Artigo em Inglês | MEDLINE | ID: mdl-26166481

13.

First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene.

Chebly, Alain; Corbani, Sandra; Abou Ghoch, Joelle; Mehawej, Cybel; Megarbane, André; Chouery, Eliane.

BMC Med Genet; 19(1): 161, 2018 Sep 10.

Artigo em Inglês | MEDLINE | ID: mdl-30200888

14.

Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation.

Bruneel, Arnaud; Cholet, Sophie; Drouin-Garraud, Valérie; Jacquemont, Marie-Line; Cano, Aline; Mégarbané, André; Ruel, Coralie; Cheillan, David; Dupré, Thierry; Vuillaumier-Barrot, Sandrine; Seta, Nathalie; Fenaille, François.

Electrophoresis; 2018 Jun 05.

Artigo em Inglês | MEDLINE | ID: mdl-29869806

15.

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.

Bruel, Ange-Line; Franco, Brunella; Duffourd, Yannis; Thevenon, Julien; Jego, Laurence; Lopez, Estelle; Deleuze, Jean-François; Doummar, Diane; Giles, Rachel H; Johnson, Colin A; Huynen, Martijn A; Chevrier, Véronique; Burglen, Lydie; Morleo, Manuela; Desguerres, Isabelle; Pierquin, Geneviève; Doray, Bérénice; Gilbert-Dussardier, Brigitte; Reversade, Bruno; Steichen-Gersdorf, Elisabeth; Baumann, Clarisse; Panigrahi, Inusha; Fargeot-Espaliat, Anne; Dieux, Anne; David, Albert; Goldenberg, Alice; Bongers, Ernie; Gaillard, Dominique; Argente, Jesús; Aral, Bernard; Gigot, Nadège; St-Onge, Judith; Birnbaum, Daniel; Phadke, Shubha R; Cormier-Daire, Valérie; Eguether, Thibaut; Pazour, Gregory J; Herranz-Pérez, Vicente; Goldstein, Jaclyn S; Pasquier, Laurent; Loget, Philippe; Saunier, Sophie; Mégarbané, André; Rosnet, Olivier; Leroux, Michel R; Wallingford, John B; Blacque, Oliver E; Nachury, Maxence V; Attie-Bitach, Tania; Rivière, Jean-Baptiste.

J Med Genet; 54(6): 371-380, 2017 06.

Artigo em Inglês | MEDLINE | ID: mdl-28289185

16.

Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome.

Patel, Nisha; Khan, Arif O; Mansour, Ahmad; Mohamed, Jawahir Y; Al-Assiri, Abdullah; Haddad, Randa; Jia, Xiaofei; Xiong, Yong; Mégarbané, André; Traboulsi, Elias I; Alkuraya, Fowzan S.

Am J Hum Genet; 94(5): 755-9, 2014 May 01.

Artigo em Inglês | MEDLINE | ID: mdl-24768550

17.

Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome.

Haidar, Zahraa; Temanni, Ramzi; Chouery, Eliane; Jithesh, Puthen; Liu, Wei; Al-Ali, Rashid; Wang, Ena; Marincola, Francesco M; Jalkh, Nadine; Haddad, Soha; Haidar, Wassim; Chouchane, Lotfi; Mégarbané, André.

BMC Genet; 18(1): 3, 2017 01 19.

Artigo em Inglês | MEDLINE | ID: mdl-28103792

18.

Homozygous microdeletion of the ERI1 and MFHAS1 genes in a patient with intellectual disability, limb abnormalities, and cardiac malformation.

Choucair, Nancy; Rajab, Mariam; Mégarbané, André; Chouery, Eliane.

Am J Med Genet A; 2017 May 09.

Artigo em Inglês | MEDLINE | ID: mdl-28488351

19.

Cover Image, Volume 173A, Number 9, September 2017.

Kruszka, Paul; Porras, Antonio R; Addissie, Yonit A; Moresco, Angélica; Medrano, Sofia; Mok, Gary T K; Leung, Gordon K C; Tekendo-Ngongang, Cedrik; Uwineza, Annette; Thong, Meow-Keong; Muthukumarasamy, Premala; Honey, Engela; Ekure, Ekanem N; Sokunbi, Ogochukwu J; Kalu, Nnenna; Jones, Kelly L; Kaplan, Julie D; Abdul-Rahman, Omar A; Vincent, Lisa M; Love, Amber; Belhassan, Khadija; Ouldim, Karim; El Bouchikhi, Ihssane; Shukla, Anju; Girisha, Katta M; Patil, Siddaramappa J; Sirisena, Nirmala D; Dissanayake, Vajira H W; Paththinige, C Sampath; Mishra, Rupesh; Klein-Zighelboim, Eva; Gallardo Jugo, Bertha E; Chávez Pastor, Miguel; Abarca-Barriga, Hugo H; Skinner, Steven A; Prijoles, Eloise J; Badoe, Eben; Gill, Ashleigh D; Shotelersuk, Vorasuk; Smpokou, Patroula; Kisling, Monisha S; Ferreira, Carlos R; Mutesa, Leon; Megarbane, Andre; Kline, Antonie D; Kimball, Amy; Okello, Emmy; Lwabi, Peter; Aliku, Twalib; Tenywa, Emmanuel.

Am J Med Genet A; 173(9): i, 2017 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-28816424

20.

Noonan syndrome in diverse populations.

Kruszka, Paul; Porras, Antonio R; Addissie, Yonit A; Moresco, Angélica; Medrano, Sofia; Mok, Gary T K; Leung, Gordon K C; Tekendo-Ngongang, Cedrik; Uwineza, Annette; Thong, Meow-Keong; Muthukumarasamy, Premala; Honey, Engela; Ekure, Ekanem N; Sokunbi, Ogochukwu J; Kalu, Nnenna; Jones, Kelly L; Kaplan, Julie D; Abdul-Rahman, Omar A; Vincent, Lisa M; Love, Amber; Belhassan, Khadija; Ouldim, Karim; El Bouchikhi, Ihssane; Shukla, Anju; Girisha, Katta M; Patil, Siddaramappa J; Sirisena, Nirmala D; Dissanayake, Vajira H W; Paththinige, C Sampath; Mishra, Rupesh; Klein-Zighelboim, Eva; Gallardo Jugo, Bertha E; Chávez Pastor, Miguel; Abarca-Barriga, Hugo H; Skinner, Steven A; Prijoles, Eloise J; Badoe, Eben; Gill, Ashleigh D; Shotelersuk, Vorasuk; Smpokou, Patroula; Kisling, Monisha S; Ferreira, Carlos R; Mutesa, Leon; Megarbane, Andre; Kline, Antonie D; Kimball, Amy; Okello, Emmy; Lwabi, Peter; Aliku, Twalib; Tenywa, Emmanuel.

Am J Med Genet A; 173(9): 2323-2334, 2017 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-28748642

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