Pesquisa | Biblioteca Virtual em Saúde Fiocruz

1.

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.

Logan, Clare V; Murray, Jennie E; Parry, David A; Robertson, Andrea; Bellelli, Roberto; Tarnauskaite, Zygimante; Challis, Rachel; Cleal, Louise; Borel, Valerie; Fluteau, Adeline; Santoyo-Lopez, Javier; Aitman, Tim; Barroso, Inês; Basel, Donald; Bicknell, Louise S; Goel, Himanshu; Hu, Hao; Huff, Chad; Hutchison, Michele; Joyce, Caroline; Knox, Rachel; Lacroix, Amy E; Langlois, Sylvie; McCandless, Shawn; McCarrier, Julie; Metcalfe, Kay A; Morrissey, Rose; Murphy, Nuala; Netchine, Irène; O'Connell, Susan M; Olney, Ann Haskins; Paria, Nandina; Rosenfeld, Jill A; Sherlock, Mark; Syverson, Erin; White, Perrin C; Wise, Carol; Yu, Yao; Zacharin, Margaret; Banerjee, Indraneel; Reijns, Martin; Bober, Michael B; Semple, Robert K; Boulton, Simon J; Rios, Jonathan J; Jackson, Andrew P.

Am J Hum Genet ; 103(6): 1038-1044, 2018 12 06.

Artigo em Inglês | MEDLINE | ID: mdl-30503519

2.

The recurrent TUBB3 Gly98Ser substitution is the first described to inconsistently result in CFEOM3.

Smith, Scott C; Olney, Ann Haskins; Beavers, Angela; Spaulding, Joanna; Nelson, Marilu; Nielsen, Shelly; Sanmann, Jennifer N.

Am J Med Genet A ; 182(9): 2161-2167, 2020 09.

Artigo em Inglês | MEDLINE | ID: mdl-32705776

3.

Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).

Sanyal, Mrinmoy; Morimoto, Marie; Baradaran-Heravi, Alireza; Choi, Kunho; Kambham, Neeraja; Jensen, Kent; Dutt, Suparna; Dionis-Petersen, Kira Y; Liu, Lan Xiang; Felix, Katie; Mayfield, Christy; Dekel, Benjamin; Bokenkamp, Arend; Fryssira, Helen; Guillen-Navarro, Encarna; Lama, Giuliana; Brugnara, Milena; Lücke, Thomas; Olney, Ann Haskins; Hunley, Tracy E; Polat, Ayse Ipek; Yis, Uluc; Bogdanovic, Radovan; Mitrovic, Katarina; Berry, Susan; Najera, Lydia; Najafian, Behzad; Gentile, Mattia; Nur Semerci, C; Tsimaratos, Michel; Lewis, David B; Boerkoel, Cornelius F.

Clin Immunol ; 161(2): 355-65, 2015 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-26499378

4.

Myhre syndrome: Clinical features and restrictive cardiopulmonary complications.

Starr, Lois J; Grange, Dorothy K; Delaney, Jeffrey W; Yetman, Anji T; Hammel, James M; Sanmann, Jennifer N; Perry, Deborah A; Schaefer, G Bradley; Olney, Ann Haskins.

Am J Med Genet A ; 167A(12): 2893-901, 2015 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-26420300

5.

Occurrence of nephroblastomatosis with dup(18)(q11.2-q23) implicates trisomy 18 tumor screening protocol in select patients with 18q duplication.

Starr, Lois J; Sanmann, Jennifer N; Olney, Ann Haskins; Wandoloski, Melissa; Sanger, Warren G; Coulter, Donald W.

Am J Med Genet A ; 164A(4): 1079-82, 2014 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-24596125

6.

Duplication of 20qter and deletion of 20pter due to paternal pericentric inversion: patient report and review of 20qter duplications.

Starr, Lois J; Truemper, Edward J; Pickering, Diane L; Sanger, Warren G; Olney, Ann Haskins.

Am J Med Genet A ; 164A(8): 2020-4, 2014 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-24954807

7.

Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.

Gripp, Karen W; Curry, Cynthia; Olney, Ann Haskins; Sandoval, Claudio; Fisher, Jamie; Chong, Jessica Xiao-Ling; Pilchman, Lisa; Sahraoui, Rebecca; Stabley, Deborah L; Sol-Church, Katia.

Am J Med Genet A ; 164A(9): 2240-9, 2014 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-24942156

8.

Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.

Rush, Eric T; Adam, Margaret P; Clark, Robin D; Curry, Cynthia; Hartmann, Julianne E; Dobyns, William B; Olney, Ann Haskins.

Am J Med Genet A ; 161A(2): 320-6, 2013 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-23292994

9.

Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome.

Sanmann, Jennifer N; Bishay, Danielle L; Starr, Lois J; Bell, Carla A; Pickering, Diane L; Stevens, Jadd M; Kahler, Stephen G; Olney, Ann Haskins; Schaefer, G Bradley; Sanger, Warren G.

Am J Med Genet A ; 158A(6): 1285-91, 2012 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-22581587

10.

SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo.

Baradaran-Heravi, Alireza; Raams, Anja; Lubieniecka, Joanna; Cho, Kyoung Sang; DeHaai, Kristi A; Basiratnia, Mitra; Mari, Pierre-Olivier; Xue, Yutong; Rauth, Michael; Olney, Ann Haskins; Shago, Mary; Choi, Kunho; Weksberg, Rosanna A; Nowaczyk, Malgorzata J M; Wang, Weidong; Jaspers, Nicolaas G J; Boerkoel, Cornelius F.

Am J Med Genet A ; 158A(9): 2204-13, 2012 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-22888040

11.

In memory of Murray Feingold (1930-2015).

Schaefer, G Bradley; Nowak, Catherine Bearce; Olney, Ann Haskins.

Am J Med Genet A ; 170(7): 1727-31, 2016 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-27149416

12.

Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.

Solomon, Benjamin D; Lacbawan, Felicitas; Mercier, Sandra; Clegg, Nancy J; Delgado, Mauricio R; Rosenbaum, Kenneth; Dubourg, Christèle; David, Veronique; Olney, Ann Haskins; Wehner, Lars-Erik; Hehr, Ute; Bale, Sherri; Paulussen, Aimee; Smeets, Hubert J; Hardisty, Emily; Tylki-Szymanska, Anna; Pronicka, Ewa; Clemens, Michelle; McPherson, Elizabeth; Hennekam, Raoul C M; Hahn, Jin; Stashinko, Elaine; Levey, Eric; Wieczorek, Dagmar; Roeder, Elizabeth; Schell-Apacik, Chayim Can; Booth, Carol W; Thomas, Ronald L; Kenwrick, Sue; Cummings, Derek A T; Bous, Sophia M; Keaton, Amelia; Balog, Joan Z; Hadley, Donald; Zhou, Nan; Long, Robert; Vélez, Jorge I; Pineda-Alvarez, Daniel E; Odent, Sylvie; Roessler, Erich; Muenke, Maximilian.

J Med Genet ; 47(8): 513-24, 2010 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-19955556

13.

Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia.

Mahajan, Vinit B; Olney, Ann Haskins; Garrett, Penny; Chary, Ajit; Dragan, Ecaterina; Lerner, Gary; Murray, Jeffrey; Bassuk, Alexander G.

Am J Med Genet A ; 152A(11): 2875-9, 2010 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-20799329

14.

De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.

Milewicz, Dianna M; Østergaard, John R; Ala-Kokko, Leena M; Khan, Nadia; Grange, Dorothy K; Mendoza-Londono, Roberto; Bradley, Timothy J; Olney, Ann Haskins; Adès, Lesley; Maher, Joseph F; Guo, Dongchuan; Buja, L Maximilian; Kim, Dong; Hyland, James C; Regalado, Ellen S.

Am J Med Genet A ; 152A(10): 2437-43, 2010 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-20734336

15.

Inherited 14q duplication and 21q deletion: a rare adjacent-2 segregation in multiple family members.

Dave, Bhavana J; Olney, Ann Haskins; Zaleski, Dianna H; Pickering, Diane L; Becker, Troy A; Chipman, Hope E; Sanger, Warren G.

Am J Med Genet A ; 149A(10): 2248-53, 2009 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-19760655

16.

Array-based comparative genomic hybridization analysis of 1176 consecutive clinical genetics investigations.

Pickering, Diane L; Eudy, James D; Olney, Ann Haskins; Dave, Bhavana J; Golden, Denae; Stevens, Jadd; Sanger, Warren G.

Genet Med ; 10(4): 262-6, 2008 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-18414209

17.

Macrocephaly syndromes.

Olney, Ann Haskins.

Semin Pediatr Neurol ; 14(3): 128-35, 2007 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-17980309

18.

18q22.3 --> 18q23 deletion syndrome and cleft palate.

Eudy, James D; Pickering, Diane L; Lutz, Richard; Platt, Kristal; Dave, Bhavana J; Olney, Ann Haskins; Sanger, Warren G.

Am J Med Genet A ; 152A(4): 1046-8, 2010 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-20358626

19.

Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency.

Reisch, Nicole; Idkowiak, Jan; Hughes, Beverly A; Ivison, Hannah E; Abdul-Rahman, Omar A; Hendon, Laura G; Olney, Ann Haskins; Nielsen, Shelly; Harrison, Rachel; Blair, Edward M; Dhir, Vivek; Krone, Nils; Shackleton, Cedric H L; Arlt, Wiebke.

J Clin Endocrinol Metab ; 98(3): E528-36, 2013 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-23365120

20.

Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.

Krone, Nils; Reisch, Nicole; Idkowiak, Jan; Dhir, Vivek; Ivison, Hannah E; Hughes, Beverly A; Rose, Ian T; O'Neil, Donna M; Vijzelaar, Raymon; Smith, Matthew J; MacDonald, Fiona; Cole, Trevor R; Adolphs, Nicolai; Barton, John S; Blair, Edward M; Braddock, Stephen R; Collins, Felicity; Cragun, Deborah L; Dattani, Mehul T; Day, Ruth; Dougan, Shelley; Feist, Miriam; Gottschalk, Michael E; Gregory, John W; Haim, Michaela; Harrison, Rachel; Olney, Ann Haskins; Hauffa, Berthold P; Hindmarsh, Peter C; Hopkin, Robert J; Jira, Petr E; Kempers, Marlies; Kerstens, Michiel N; Khalifa, Mohamed M; Köhler, Birgit; Maiter, Dominique; Nielsen, Shelly; O'Riordan, Stephen M; Roth, Christian L; Shane, Kate P; Silink, Martin; Stikkelbroeck, Nike M M L; Sweeney, Elizabeth; Szarras-Czapnik, Maria; Waterson, John R; Williamson, Lori; Hartmann, Michaela F; Taylor, Norman F; Wudy, Stefan A; Malunowicz, Ewa M.

J Clin Endocrinol Metab ; 97(2): E257-67, 2012 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-22162478

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