Pesquisa | Biblioteca Virtual em Saúde

1.

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

Skraban, Cara M; Wells, Constance F; Markose, Preetha; Cho, Megan T; Nesbitt, Addie I; Au, P Y Billie; Begtrup, Amber; Bernat, John A; Bird, Lynne M; Cao, Kajia; de Brouwer, Arjan P M; Denenberg, Elizabeth H; Douglas, Ganka; Gibson, Kristin M; Grand, Katheryn; Goldenberg, Alice; Innes, A Micheil; Juusola, Jane; Kempers, Marlies; Kinning, Esther; Markie, David M; Owens, Martina M; Payne, Katelyn; Person, Richard; Pfundt, Rolph; Stocco, Amber; Turner, Claire L S; Verbeek, Nienke E; Walsh, Laurence E; Warner, Taylor C; Wheeler, Patricia G; Wieczorek, Dagmar; Wilkens, Alisha B; Zonneveld-Huijssoon, Evelien; Kleefstra, Tjitske; Robertson, Stephen P; Santani, Avni; van Gassen, Koen L I; Deardorff, Matthew A.

Am J Hum Genet; 101(1): 139-148, 2017 Jul 06.

Artigo em Inglês | MEDLINE | ID: mdl-28686853

2.

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.

O'Rawe, Jason A; Wu, Yiyang; Dörfel, Max J; Rope, Alan F; Au, P Y Billie; Parboosingh, Jillian S; Moon, Sungjin; Kousi, Maria; Kosma, Konstantina; Smith, Christopher S; Tzetis, Maria; Schuette, Jane L; Hufnagel, Robert B; Prada, Carlos E; Martinez, Francisco; Orellana, Carmen; Crain, Jonathan; Caro-Llopis, Alfonso; Oltra, Silvestre; Monfort, Sandra; Jiménez-Barrón, Laura T; Swensen, Jeffrey; Ellingwood, Sara; Smith, Rosemarie; Fang, Han; Ospina, Sandra; Stegmann, Sander; Den Hollander, Nicolette; Mittelman, David; Highnam, Gareth; Robison, Reid; Yang, Edward; Faivre, Laurence; Roubertie, Agathe; Rivière, Jean-Baptiste; Monaghan, Kristin G; Wang, Kai; Davis, Erica E; Katsanis, Nicholas; Kalscheuer, Vera M; Wang, Edith H; Metcalfe, Kay; Kleefstra, Tjitske; Innes, A Micheil; Kitsiou-Tzeli, Sophia; Rosello, Monica; Keegan, Catherine E; Lyon, Gholson J.

Am J Hum Genet; 97(6): 922-32, 2015 Dec 03.

Artigo em Inglês | MEDLINE | ID: mdl-26637982

3.

GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.

Au, P Y Billie; You, Jing; Caluseriu, Oana; Schwartzentruber, Jeremy; Majewski, Jacek; Bernier, Francois P; Ferguson, Marcia; Valle, David; Parboosingh, Jillian S; Sobreira, Nara; Innes, A Micheil; Kline, Antonie D.

Hum Mutat; 36(10): 1009-1014, 2015 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-26173930

4.

Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.

Au, P Y Billie; Argiropoulos, Bob; Parboosingh, Jillian S; Micheil Innes, A.

Am J Med Genet A; 164A(2): 441-8, 2014 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-24357076

5.

De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review.

Au, P Y Billie; Racher, Hilary E; Graham, John M; Kramer, Nancy; Lowry, R Brian; Parboosingh, Jillian S; Innes, A Micheil.

Am J Med Genet A; 164A(3): 676-84, 2014 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-24357594

6.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Blok, Lot Snijders; Rousseau, Justine; Twist, Joanna; Ehresmann, Sophie; Takaku, Motoki; Venselaar, Hanka; Rodan, Lance H; Nowak, Catherine B; Douglas, Jessica; Swoboda, Kathryn J; Steeves, Marcie A; Sahai, Inderneel; Stumpel, Connie T R M; Stegmann, Alexander P A; Wheeler, Patricia; Willing, Marcia; Fiala, Elise; Kochhar, Aaina; Gibson, William T; Cohen, Ana S A; Agbahovbe, Ruky; Innes, A Micheil; Au, P Y Billie; Rankin, Julia; Anderson, Ilse J; Skinner, Steven A; Louie, Raymond J; Warren, Hannah E; Afenjar, Alexandra; Keren, Boris; Nava, Caroline; Buratti, Julien; Isapof, Arnaud; Rodriguez, Diana; Lewandowski, Raymond; Propst, Jennifer; van Essen, Ton; Choi, Murim; Lee, Sangmoon; Chae, Jong H; Price, Susan; Schnur, Rhonda E; Douglas, Ganka; Wentzensen, Ingrid M; Zweier, Christiane; Reis, André; Bialer, Martin G; Moore, Christine; Koopmans, Marije; Brilstra, Eva H.

Nat Commun; 10(1): 883, 2019 Feb 15.

Artigo em Inglês | MEDLINE | ID: mdl-30770872

7.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Snijders Blok, Lot; Rousseau, Justine; Twist, Joanna; Ehresmann, Sophie; Takaku, Motoki; Venselaar, Hanka; Rodan, Lance H; Nowak, Catherine B; Douglas, Jessica; Swoboda, Kathryn J; Steeves, Marcie A; Sahai, Inderneel; Stumpel, Connie T R M; Stegmann, Alexander P A; Wheeler, Patricia; Willing, Marcia; Fiala, Elise; Kochhar, Aaina; Gibson, William T; Cohen, Ana S A; Agbahovbe, Ruky; Innes, A Micheil; Au, P Y Billie; Rankin, Julia; Anderson, Ilse J; Skinner, Steven A; Louie, Raymond J; Warren, Hannah E; Afenjar, Alexandra; Keren, Boris; Nava, Caroline; Buratti, Julien; Isapof, Arnaud; Rodriguez, Diana; Lewandowski, Raymond; Propst, Jennifer; van Essen, Ton; Choi, Murim; Lee, Sangmoon; Chae, Jong H; Price, Susan; Schnur, Rhonda E; Douglas, Ganka; Wentzensen, Ingrid M; Zweier, Christiane; Reis, André; Bialer, Martin G; Moore, Christine; Koopmans, Marije; Brilstra, Eva H.

Nat Commun; 10(1): 2079, 2019 May 02.

Artigo em Inglês | MEDLINE | ID: mdl-31048695

8.

Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.

Au, P Y Billie; Goedhart, Caitlin; Ferguson, Marcia; Breckpot, Jeroen; Devriendt, Koenraad; Wierenga, Klaas; Fanning, Elizabeth; Grange, Dorothy K; Graham, Gail E; Galarreta, Carolina; Jones, Marilyn C; Kini, Usha; Stewart, Helen; Parboosingh, Jillian S; Kline, Antonie D; Innes, A Micheil.

Eur J Hum Genet; 26(9): 1272-1281, 2018 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-29904177

9.

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Snijders Blok, Lot; Rousseau, Justine; Twist, Joanna; Ehresmann, Sophie; Takaku, Motoki; Venselaar, Hanka; Rodan, Lance H; Nowak, Catherine B; Douglas, Jessica; Swoboda, Kathryn J; Steeves, Marcie A; Sahai, Inderneel; Stumpel, Connie T R M; Stegmann, Alexander P A; Wheeler, Patricia; Willing, Marcia; Fiala, Elise; Kochhar, Aaina; Gibson, William T; Cohen, Ana S A; Agbahovbe, Ruky; Innes, A Micheil; Au, P Y Billie; Rankin, Julia; Anderson, Ilse J; Skinner, Steven A; Louie, Raymond J; Warren, Hannah E; Afenjar, Alexandra; Keren, Boris; Nava, Caroline; Buratti, Julien; Isapof, Arnaud; Rodriguez, Diana; Lewandowski, Raymond; Propst, Jennifer; van Essen, Ton; Choi, Murim; Lee, Sangmoon; Chae, Jong H; Price, Susan; Schnur, Rhonda E; Douglas, Ganka; Wentzensen, Ingrid M; Zweier, Christiane; Reis, André; Bialer, Martin G; Moore, Christine; Koopmans, Marije; Brilstra, Eva H.

Nat Commun; 9(1): 4619, 2018 11 05.

Artigo em Inglês | MEDLINE | ID: mdl-30397230

10.

Benzethonium chloride: a novel anticancer agent identified by using a cell-based small-molecule screen.

Yip, Kenneth W; Mao, Xinliang; Au, P Y Billie; Hedley, David W; Chow, Sue; Dalili, Shadi; Mocanu, Joseph D; Bastianutto, Carlo; Schimmer, Aaron; Liu, Fei-Fei.

Clin Cancer Res; 12(18): 5557-69, 2006 Sep 15.

Artigo em Inglês | MEDLINE | ID: mdl-17000693

11.

Potential use of alexidine dihydrochloride as an apoptosis-promoting anticancer agent.

Yip, Kenneth W; Ito, Emma; Mao, Xinliang; Au, P Y Billie; Hedley, David W; Mocanu, Joseph D; Bastianutto, Carlo; Schimmer, Aaron; Liu, Fei-Fei.

Mol Cancer Ther; 5(9): 2234-40, 2006 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-16985057

12.

The oncogene PDGF-B provides a key switch from cell death to survival induced by TNF.

Au, P Y Billie; Martin, Nicole; Chau, Hien; Moemeni, Behrouz; Chia, Marie; Liu, Fei-Fei; Minden, Mark; Yeh, Wen-Chen.

Oncogene; 24(19): 3196-205, 2005 Apr 28.

Artigo em Inglês | MEDLINE | ID: mdl-15735680

13.

Combination bcl-2 antisense and radiation therapy for nasopharyngeal cancer.

Yip, Kenneth W; Mocanu, Joseph D; Au, P Y Billie; Sleep, Gillian T; Huang, Dolly; Busson, Pierre; Yeh, Wen-Chen; Gilbert, Ralph; O'Sullivan, Brian; Gullane, Patrick; Bastianutto, Carlo; Liu, Fei-Fei.

Clin Cancer Res; 11(22): 8131-44, 2005 Nov 15.

Artigo em Inglês | MEDLINE | ID: mdl-16299246

14.

Essential role for caspase 8 in T-cell homeostasis and T-cell-mediated immunity.

Salmena, Leonardo; Lemmers, Benedicte; Hakem, Anne; Matysiak-Zablocki, Elzbieta; Murakami, Kiichi; Au, P Y Billie; Berry, Donna M; Tamblyn, Laura; Shehabeldin, Amro; Migon, Eva; Wakeham, Andrew; Bouchard, Denis; Yeh, Wen Chen; McGlade, Jane C; Ohashi, Pamela S; Hakem, Razqallah.

Genes Dev; 17(7): 883-95, 2003 Apr 01.

Artigo em Inglês | MEDLINE | ID: mdl-12654726

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WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.

GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.

Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.

De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Benzethonium chloride: a novel anticancer agent identified by using a cell-based small-molecule screen.

Potential use of alexidine dihydrochloride as an apoptosis-promoting anticancer agent.

The oncogene PDGF-B provides a key switch from cell death to survival induced by TNF.

Combination bcl-2 antisense and radiation therapy for nasopharyngeal cancer.

Essential role for caspase 8 in T-cell homeostasis and T-cell-mediated immunity.