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Síndrome de microdeleção 2q32 em paciente da Amazônia ocidental; 2q32 microdeletion syndrome in a patient from the western Amazon
Síndrome de microdeleção 2q32 em paciente da Amazônia ocidental; 2q32 microdeletion syndrome in a patient from the western Amazon
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Síndrome de microdeleção 2q32 em paciente da Amazônia ocidental; 2q32 microdeletion syndrome in a patient from the western Amazon

Oliveira, Wilyan Dias Cosmo; Silva, Christian Rogers Gomes Da; Andrade, Christopher Harrison Salomão; Borges, Edilson Moreira; Sá, Gabriele Batista De; Rocha, Joshua Werner Bicalho Da

Medicina (Ribeirao Preto); Vol. 56 No. 2 (2023); e-194793

Universidade de São Paulo. Faculdade de Medicina de Ribeirão Preto 2023-08-15

Acesso online

2
A Scalable Computational Approach for Simulating Complexes of Multiple Chromosomes
A Scalable Computational Approach for Simulating Complexes of Multiple Chromosomes
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A Scalable Computational Approach for Simulating Complexes of Multiple Chromosomes

Oliveira Junior, Antonio B. ; Contessoto, Vinícius G. ; Mello, Matheus F. ; Onuchic, José N.

Journal of molecular biology, 2021-03, Vol.433 (6), p.166700-166700, Article 166700 [Periódico revisado por pares]

England: Elsevier Ltd

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3
Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1
Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1
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Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1

Winkelmann, Juliane ; Czamara, Darina ; Schormair, Barbara ; Knauf, Franziska ; Schulte, Eva C ; Trenkwalder, Claudia ; Dauvilliers, Yves ; Polo, Olli ; Högl, Birgit ; Berger, Klaus ; Fuhs, Andrea ; Gross, Nadine ; Stiasny-Kolster, Karin ; Oertel, Wolfgang ; Bachmann, Cornelius G ; Paulus, Walter ; Xiong, Lan ; Montplaisir, Jacques ; Rouleau, Guy A ; Fietze, Ingo ; Vávrová, Jana ; Kemlink, David ; Sonka, Karel ; Nevsimalova, Sona ; Lin, Siong-Chi ; Wszolek, Zbigniew ; Vilariño-Güell, Carles ; Farrer, Matthew J ; Gschliesser, Viola ; Frauscher, Birgit ; Falkenstetter, Tina ; Poewe, Werner ; Allen, Richard P ; Earley, Christopher J ; Ondo, William G ; Le, Wei-Dong ; Spieler, Derek ; Kaffe, Maria ; Zimprich, Alexander ; Kettunen, Johannes ; Perola, Markus ; Silander, Kaisa ; Cournu-Rebeix, Isabelle ; Francavilla, Marcella ; Fontenille, Claire ; Fontaine, Bertrand ; Vodicka, Pavel ; Prokisch, Holger ; Lichtner, Peter ; Peppard, Paul ; Faraco, Juliette ; Mignot, Emmanuel ; Gieger, Christian ; Illig, Thomas ; Wichmann, H-Erich ; Müller-Myhsok, Bertram ; Meitinger, Thomas McCarthy, Mark I.

PLoS genetics, 2011-07, Vol.7 (7), p.e1002171-e1002171 [Periódico revisado por pares]

United States: Public Library of Science

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4
Recurrent microdeletions at chromosome 2p11.2 are associated with thymic hypoplasia and features resembling DiGeorge syndrome
Recurrent microdeletions at chromosome 2p11.2 are associated with thymic hypoplasia and features resembling DiGeorge syndrome
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Recurrent microdeletions at chromosome 2p11.2 are associated with thymic hypoplasia and features resembling DiGeorge syndrome

Bernstock, Joshua D. ; Totten, Arthur H. ; Elkahloun, Abdel G. ; Johnson, Kory R. ; Hurst, Anna C. ; Goldman, Frederick ; Groves, Andrew K. ; Mikhail, Fady M. ; Atkinson, T. Prescott

Journal of allergy and clinical immunology, 2020-01, Vol.145 (1), p.358-367.e2 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation
Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation
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Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

Ghoussaini, Maya ; Edwards, Stacey L ; Nord, Silje ; Kar, Siddhartha ; Hillman, Kristine M ; Beesley, Jonathan ; Wang, Qin ; Guo, Qi ; Czene, Kamila ; Darabi, Hatef ; Eriksson, Mikael ; Klevebring, Daniel ; Lambrechts, Diether ; Wildiers, Hans ; Van't Veer, Laura J ; Olson, Janet E ; Hallberg, Emily ; Seibold, Petra ; Flesch-Janys, Dieter ; Dos-Santos-Silva, Isabel ; Gibson, Lorna ; Nevanlinna, Heli ; Muranen, Taru A ; Li, Jingmei ; Humphreys, Keith ; Kang, Daehee ; Park, Sue K ; Ito, Hidemi ; Iwata, Hiroji ; Menegaux, Florence ; Sanchez, Marie ; Burwinkel, Barbara ; Marme, Frederik ; Schneeweiss, Andreas ; Sohn, Christof ; Wu, Anna H ; Tseng, Chiu-Chen ; Van Den Berg, David ; Stram, Daniel O ; Gao, Yu-Tang ; Cox, Angela ; Cross, Simon S ; Reed, Malcolm W R ; Andrulis, Irene L ; Knight, Julia A ; Tchatchou, Sandrine ; Tomlinson, Ian ; Haiman, Christopher A ; Lindblom, Annika ; Lee, Daphne S C ; Wong, Tien Y ; Hooning, Maartje J ; Collée, J Margriet ; Kapuscinski, Miroslav K ; Chen, Shou-Tung ; Borresen-Dale, Anne-Lise ; Giles, Graham G ; Milne, Roger L ; Muir, Kenneth ; Lophatananon, Artitaya ; Stewart-Brown, Sarah ; Miao, Hui ; Teo, Yik Ying ; Haeberle, Lothar ; Brenner, Hermann ; Dieffenbach, Aida Karina ; Stegmaier, Christa ; Ashworth, Alan ; García-Closas, Montserrat ; Figueroa, Jonine ; Simard, Jacques ; Goldberg, Mark S ; Labrèche, France ; Dumont, Martine ; Pylkäs, Katri ; Jukkola-Vuorinen, Arja ; Brauch, Hiltrud ; Koto, Yon-Dschun ; Dörk, Thilo ; Bogdanova, Natalia V ; Mannermaa, Arto ; Kataja, Vesa ; Devilee, Peter ; Lubinski, Jan ; Jaworska-Bieniek, Katarzyna ; Toland, Amanda E ; Ambrosone, Christine B ; Sangrajrang, Suleeporn ; McKay, James ; Hamann, Ute ; Zheng, Wei ; Pita, Guillermo ; Alonso, M Rosario ; Alvarez, Nuria ; Bacot, Francois ; Carroll, Jason ; Brown, Melissa A ; Pharoah, Paul D P ; Chenevix-Trench, Georgia ; Easton, Douglas F

Nature communications, 2014-09, Vol.4 (1), p.4999, Article 4999 [Periódico revisado por pares]

England: Nature Publishing Group

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6
Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings
Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings
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Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings

Blanluet, Maud ; Chantot‐Bastaraud, Sandra ; Chambon, Pascal ; Cassinari, Kévin ; Vera, Gabriella ; Goldenberg, Alice ; Keren, Boris ; Le Meur, Nathalie ; Hannequin, Didier ; Mace, Bertrand ; Siffroi, Jean‐Pierre ; Frebourg, Thierry ; Nicolas, Gaël ; Joly‐Helas, Géraldine

American journal of medical genetics. Part A, 2021-10, Vol.185 (10), p.3057-3061 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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7
Mapping of MYC breakpoints in 8q24 rearrangements involving non-immunoglobulin partners in B-cell lymphomas
Mapping of MYC breakpoints in 8q24 rearrangements involving non-immunoglobulin partners in B-cell lymphomas
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Mapping of MYC breakpoints in 8q24 rearrangements involving non-immunoglobulin partners in B-cell lymphomas

BERTRAND, P ; BASTARD, C ; MAINGONNAT, C ; JARDIN, F ; MAISONNEUVE, C ; COUREL, M.-N ; RUMINY, P ; PICQUENOT, J.-M ; TILLY, H

Leukemia, 2007-03, Vol.21 (3), p.515-523 [Periódico revisado por pares]

London: Nature Publishing

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8
Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA
Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA
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Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA

Edery, Patrick ; Marcaillou, Charles ; Sahbatou, Mourad ; Labalme, Audrey ; Chastang, Joelle ; Touraine, Renaud ; Tubacher, Emmanuel ; Senni, Faiza ; Bober, Michael B. ; Nampoothiri, Sheela ; Jouk, Pierre-Simon ; Steichen, Elisabeth ; Berland, Siren ; Toutain, Annick ; Wise, Carol A. ; Sanlaville, Damien ; Rousseau, Francis ; Clerget-Darpoux, Françoise ; Leutenegger, Anne-Louise

Science (American Association for the Advancement of Science), 2011-04, Vol.332 (6026), p.240-243 [Periódico revisado por pares]

Washington, DC: American Association for the Advancement of Science

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9
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2
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Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2

Zarate, Yuri A. ; Bosanko, Katherine A. ; Thomas, Mary Ann ; Miller, David T. ; Cusmano‐Ozog, Kristina ; Martinez‐Monseny, Antonio ; Curry, Cynthia J. ; Graham, John M. ; Velsher, Lea ; Bekheirnia, Mir Reza ; Seidel, Veronica ; Dedousis, Demitrios ; Mitchell, Anna L. ; DiMarino, Amy M. ; Riess, Angelika ; Balasubramanian, Meena ; Fish, Jennifer L. ; Caffrey, Aisling R. ; Fleischer, Nicole ; Pierson, Tyler Mark ; Lacro, Ronald V.

Clinical genetics, 2021-04, Vol.99 (4), p.547-557 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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10
Mutations in the GIGYF2 (TNRC15) Gene at the PARK11 Locus in Familial Parkinson Disease
Mutations in the GIGYF2 (TNRC15) Gene at the PARK11 Locus in Familial Parkinson Disease
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Mutations in the GIGYF2 (TNRC15) Gene at the PARK11 Locus in Familial Parkinson Disease

Lautier, Corinne ; Goldwurm, Stefano ; Dürr, Alexandra ; Giovannone, Barbara ; Tsiaras, William G. ; Pezzoli, Gianni ; Brice, Alexis ; Smith, Robert J.

American journal of human genetics, 2008-04, Vol.82 (4), p.822-833 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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Deste Autor:

  1. Rocha, J
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  3. Oliveira, W
  4. Andrade, C
  5. Sá, G

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