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1.

Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies.

Khan, Tahir N; Khan, Kamal; Sadeghpour, Azita; Reynolds, Hannah; Perilla, Yezmin; McDonald, Marie T; Gallentine, William B; Baig, Shahid M; Davis, Erica E; Katsanis, Nicholas.

Am J Hum Genet; 104(1): 94-111, 2019 01 03.

Artigo em Inglês | MEDLINE | ID: mdl-30609410

2.

Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.

Ganapathi, Mythily; Padgett, Leah R; Yamada, Kentaro; Devinsky, Orrin; Willaert, Rebecca; Person, Richard; Au, Ping-Yee Billie; Tagoe, Julia; McDonald, Marie; Karlowicz, Danielle; Wolf, Barry; Lee, Joanna; Shen, Yufeng; Okur, Volkan; Deng, Liyong; LeDuc, Charles A; Wang, Jiayao; Hanner, Ashleigh; Mirmira, Raghavendra G; Park, Myung Hee; Mastracci, Teresa L; Chung, Wendy K.

Am J Hum Genet; 104(2): 287-298, 2019 02 07.

Artigo em Inglês | MEDLINE | ID: mdl-30661771

3.

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.

Accogli, Andrea; Calabretta, Sara; St-Onge, Judith; Boudrahem-Addour, Nassima; Dionne-Laporte, Alexandre; Joset, Pascal; Azzarello-Burri, Silvia; Rauch, Anita; Krier, Joel; Fieg, Elizabeth; Pallais, Juan C; McConkie-Rosell, Allyn; McDonald, Marie; Freedman, Sharon F; Rivière, Jean-Baptiste; Lafond-Lapalme, Joël; Simpson, Brittany N; Hopkin, Robert J; Trimouille, Aurélien; Van-Gils, Julien; Begtrup, Amber; McWalter, Kirsty; Delphine, Heron; Keren, Boris; Genevieve, David; Argilli, Emanuela; Sherr, Elliott H; Severino, Mariasavina; Rouleau, Guy A; Yam, Patricia T; Charron, Frédéric; Srour, Myriam.

Am J Hum Genet; 105(4): 854-868, 2019 Oct 03.

Artigo em Inglês | MEDLINE | ID: mdl-31585109

4.

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.

Fischer-Zirnsak, Björn; Segebrecht, Lara; Schubach, Max; Charles, Perrine; Alderman, Emily; Brown, Kathleen; Cadieux-Dion, Maxime; Cartwright, Tracy; Chen, Yanmin; Costin, Carrie; Fehr, Sarah; Fitzgerald, Keely M; Fleming, Emily; Foss, Kimberly; Ha, Thoa; Hildebrand, Gabriele; Horn, Denise; Liu, Shuxi; Marco, Elysa J; McDonald, Marie; McWalter, Kirsty; Race, Simone; Rush, Eric T; Si, Yue; Saunders, Carol; Slavotinek, Anne; Stockler-Ipsiroglu, Sylvia; Telegrafi, Aida; Thiffault, Isabelle; Torti, Erin; Tsai, Anne Chun-Hui; Wang, Xin; Zafar, Muhammad; Keren, Boris; Kornak, Uwe; Boerkoel, Cornelius F; Mirzaa, Ghayda; Ehmke, Nadja.

Am J Hum Genet; 105(3): 631-639, 2019 Sep 05.

Artigo em Inglês | MEDLINE | ID: mdl-31353024

5.

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Guissart, Claire; Latypova, Xenia; Rollier, Paul; Khan, Tahir N; Stamberger, Hannah; McWalter, Kirsty; Cho, Megan T; Kjaergaard, Susanne; Weckhuysen, Sarah; Lesca, Gaetan; Besnard, Thomas; Õunap, Katrin; Schema, Lynn; Chiocchetti, Andreas G; McDonald, Marie; de Bellescize, Julitta; Vincent, Marie; Van Esch, Hilde; Sattler, Shannon; Forghani, Irman; Thiffault, Isabelle; Freitag, Christine M; Barbouth, Deborah Sara; Cadieux-Dion, Maxime; Willaert, Rebecca; Guillen Sacoto, Maria J; Safina, Nicole P; Dubourg, Christèle; Grote, Lauren; Carré, Wilfrid; Saunders, Carol; Pajusalu, Sander; Farrow, Emily; Boland, Anne; Karlowicz, Danielle Hays; Deleuze, Jean-François; Wojcik, Monica H; Pressman, Rena; Isidor, Bertrand; Vogels, Annick; Van Paesschen, Wim; Al-Gazali, Lihadh; Al Shamsi, Aisha Mohamed; Claustres, Mireille; Pujol, Aurora; Sanders, Stephan J; Rivier, François; Leboucq, Nicolas; Cogné, Benjamin; Sasorith, Souphatta.

Am J Hum Genet; 102(5): 744-759, 2018 05 03.

Artigo em Inglês | MEDLINE | ID: mdl-29656859

6.

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.

Liu, Ning; Schoch, Kelly; Luo, Xi; Pena, Loren D M; Bhavana, Venkata Hemanjani; Kukolich, Mary K; Stringer, Sarah; Powis, Zöe; Radtke, Kelly; Mroske, Cameron; Deak, Kristen L; McDonald, Marie T; McConkie-Rosell, Allyn; Markert, M Louise; Kranz, Peter G; Stong, Nicholas; Need, Anna C; Bick, David; Amaral, Michelle D; Worthey, Elizabeth A; Levy, Shawn; Wangler, Michael F; Bellen, Hugo J; Shashi, Vandana; Yamamoto, Shinya.

Hum Mol Genet; 27(14): 2454-2465, 2018 Jul 15.

Artigo em Inglês | MEDLINE | ID: mdl-29726930

7.

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

Schoch, Kelly; Meng, Linyan; Szelinger, Szabolcs; Bearden, David R; Stray-Pedersen, Asbjorg; Busk, Oyvind L; Stong, Nicholas; Liston, Eriskay; Cohn, Ronald D; Scaglia, Fernando; Rosenfeld, Jill A; Tarpinian, Jennifer; Skraban, Cara M; Deardorff, Matthew A; Friedman, Jeremy N; Akdemir, Zeynep Coban; Walley, Nicole; Mikati, Mohamad A; Kranz, Peter G; Jasien, Joan; McConkie-Rosell, Allyn; McDonald, Marie; Wechsler, Stephanie Burns; Freemark, Michael; Kansagra, Sujay; Freedman, Sharon; Bali, Deeksha; Millan, Francisca; Bale, Sherri; Nelson, Stanley F; Lee, Hane; Dorrani, Naghmeh; Goldstein, David B; Xiao, Rui; Yang, Yaping; Posey, Jennifer E; Martinez-Agosto, Julian A; Lupski, James R; Wangler, Michael F; Shashi, Vandana.

Am J Hum Genet; 100(2): 343-351, 2017 Feb 02.

Artigo em Inglês | MEDLINE | ID: mdl-28132692

8.

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

Lee, Chae Syng; Fu, He; Baratang, Nissan; Rousseau, Justine; Kumra, Heena; Sutton, V Reid; Niceta, Marcello; Ciolfi, Andrea; Yamamoto, Guilherme; Bertola, Débora; Marcelis, Carlo L; Lugtenberg, Dorien; Bartuli, Andrea; Kim, Choel; Hoover-Fong, Julie; Sobreira, Nara; Pauli, Richard; Bacino, Carlos; Krakow, Deborah; Parboosingh, Jillian; Yap, Patrick; Kariminejad, Ariana; McDonald, Marie T; Aracena, Mariana I; Lausch, Ekkehart; Unger, Sheila; Superti-Furga, Andrea; Lu, James T; Cohn, Dan H; Tartaglia, Marco; Lee, Brendan H; Reinhardt, Dieter P; Campeau, Philippe M.

Am J Hum Genet; 101(5): 815-823, 2017 Nov 02.

Artigo em Inglês | MEDLINE | ID: mdl-29100092

9.

CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.

Mizumoto, Shuji; Janecke, Andreas R; Sadeghpour, Azita; Povysil, Gundula; McDonald, Marie T; Unger, Sheila; Greber-Platzer, Susanne; Deak, Kristen L; Katsanis, Nicholas; Superti-Furga, Andrea; Sugahara, Kazuyuki; Davis, Erica E; Yamada, Shuhei; Vodopiutz, Julia.

Hum Mutat; 2019 Nov 09.

Artigo em Inglês | MEDLINE | ID: mdl-31705726

10.

HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.

Burkardt, Deepika D'Cunha; Zachariou, Anna; Loveday, Chey; Allen, Clare L; Amor, David J; Ardissone, Anna; Banka, Siddharth; Bourgois, Alexia; Coubes, Christine; Cytrynbaum, Cheryl; Faivre, Laurence; Marion, Gerard; Horton, Rachel; Kotzot, Dieter; Lay-Son, Guillermo; Lees, Melissa; Low, Karen; Luk, Ho-Ming; Mark, Paul; McConkie-Rosell, Allyn; McDonald, Marie; Pappas, John; Phillipe, Christophe; Shears, Deborah; Skotko, Brian; Stewart, Fiona; Stewart, Helen; Temple, I Karen; Mau-Them, Frederic T; Verdugo, Ricardo A; Weksberg, Rosanna; Zarate, Yuri A; Graham, John M; Tatton-Brown, Katrina.

Am J Med Genet A; 179(10): 2049-2055, 2019 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-31400068

11.

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

12.

A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness.

Coppola, Tiziana; Becken, Bradford; Van Mater, Heather; McDonald, Marie Theresa; Panayotti, Gabriela Maradiaga.

BMC Pediatr; 19(1): 245, 2019 Jul 20.

Artigo em Inglês | MEDLINE | ID: mdl-31325964

13.

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Koczkowska, Magdalena; Callens, Tom; Gomes, Alicia; Sharp, Angela; Chen, Yunjia; Hicks, Alesha D; Aylsworth, Arthur S; Azizi, Amedeo A; Basel, Donald G; Bellus, Gary; Bird, Lynne M; Blazo, Maria A; Burke, Leah W; Cannon, Ashley; Collins, Felicity; DeFilippo, Colette; Denayer, Ellen; Digilio, Maria C; Dills, Shelley K; Dosa, Laura; Greenwood, Robert S; Griffis, Cristin; Gupta, Punita; Hachen, Rachel K; Hernández-Chico, Concepción; Janssens, Sandra; Jones, Kristi J; Jordan, Justin T; Kannu, Peter; Korf, Bruce R; Lewis, Andrea M; Listernick, Robert H; Lonardo, Fortunato; Mahoney, Maurice J; Ojeda, Mayra Martinez; McDonald, Marie T; McDougall, Carey; Mendelsohn, Nancy; Miller, David T; Mori, Mari; Oostenbrink, Rianne; Perreault, Sebastién; Pierpont, Mary Ella; Piscopo, Carmelo; Pond, Dinel A; Randolph, Linda M; Rauen, Katherine A; Rednam, Surya; Rutledge, S Lane; Saletti, Veronica.

Genet Med; 2018 Oct 01.

Artigo em Inglês | MEDLINE | ID: mdl-30275510

14.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Koczkowska, Magdalena; Callens, Tom; Gomes, Alicia; Sharp, Angela; Chen, Yunjia; Hicks, Alesha D; Aylsworth, Arthur S; Azizi, Amedeo A; Basel, Donald G; Bellus, Gary; Bird, Lynne M; Blazo, Maria A; Burke, Leah W; Cannon, Ashley; Collins, Felicity; DeFilippo, Colette; Denayer, Ellen; Digilio, Maria C; Dills, Shelley K; Dosa, Laura; Greenwood, Robert S; Griffis, Cristin; Gupta, Punita; Hachen, Rachel K; Hernández-Chico, Concepción; Janssens, Sandra; Jones, Kristi J; Jordan, Justin T; Kannu, Peter; Korf, Bruce R; Lewis, Andrea M; Listernick, Robert H; Lonardo, Fortunato; Mahoney, Maurice J; Ojeda, Mayra Martinez; McDonald, Marie T; McDougall, Carey; Mendelsohn, Nancy; Miller, David T; Mori, Mari; Oostenbrink, Rianne; Perreault, Sebastién; Pierpont, Mary Ella; Piscopo, Carmelo; Pond, Dinel A; Randolph, Linda M; Rauen, Katherine A; Rednam, Surya; Rutledge, S Lane; Saletti, Veronica.

Genet Med; 2018 Sep 07.

Artigo em Inglês | MEDLINE | ID: mdl-30190611

15.

Biallelic mutations in FDXR cause neurodegeneration associated with inflammation.

Slone, Jesse; Peng, Yanyan; Chamberlin, Adam; Harris, Belinda; Kaylor, Julie; McDonald, Marie T; Lemmon, Monica; El-Dairi, Mays Antonine; Tchapyjnikov, Dmitry; Gonzalez-Krellwitz, Laura A; Sellars, Elizabeth A; McConkie-Rosell, Allyn; Reinholdt, Laura G; Huang, Taosheng.

J Hum Genet; 63(12): 1211-1222, 2018 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-30250212

16.

Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound.

Louie, Raymond J; Tan, Queenie K-G; Gilner, Jennifer B; Rogers, R Curtis; Younge, Noelle; Wechsler, Stephanie B; McDonald, Marie T; Gordon, Barbara; Saski, Christopher A; Jones, Julie R; Chapman, Shelley J; Stevenson, Roger E; Sleasman, John W; Friez, Michael J.

Am J Med Genet A; 173(5): 1219-1225, 2017 May.

Artigo em Inglês | MEDLINE | ID: mdl-28317311

17.

Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.

Nota, Benjamin; Struys, Eduard A; Pop, Ana; Jansen, Erwin E; Fernandez Ojeda, Matilde R; Kanhai, Warsha A; Kranendijk, Martijn; van Dooren, Silvy J M; Bevova, Marianna R; Sistermans, Erik A; Nieuwint, Aggie W M; Barth, Magalie; Ben-Omran, Tawfeg; Hoffmann, Georg F; de Lonlay, Pascale; McDonald, Marie T; Meberg, Alf; Muntau, Ania C; Nuoffer, Jean-Marc; Parini, Rossella; Read, Marie-Hélène; Renneberg, Axel; Santer, René; Strahleck, Thomas; van Schaftingen, Emile; van der Knaap, Marjo S; Jakobs, Cornelis; Salomons, Gajja S.

Am J Hum Genet; 92(4): 627-31, 2013 Apr 04.

Artigo em Inglês | MEDLINE | ID: mdl-23561848

18.

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Rojnueangnit, Kitiwan; Xie, Jing; Gomes, Alicia; Sharp, Angela; Callens, Tom; Chen, Yunjia; Liu, Ying; Cochran, Meagan; Abbott, Mary-Alice; Atkin, Joan; Babovic-Vuksanovic, Dusica; Barnett, Christopher P; Crenshaw, Melissa; Bartholomew, Dennis W; Basel, Lina; Bellus, Gary; Ben-Shachar, Shay; Bialer, Martin G; Bick, David; Blumberg, Bruce; Cortes, Fanny; David, Karen L; Destree, Anne; Duat-Rodriguez, Anna; Earl, Dawn; Escobar, Luis; Eswara, Marthanda; Ezquieta, Begona; Frayling, Ian M; Frydman, Moshe; Gardner, Kathy; Gripp, Karen W; Hernández-Chico, Concepcion; Heyrman, Kurt; Ibrahim, Jennifer; Janssens, Sandra; Keena, Beth A; Llano-Rivas, Isabel; Leppig, Kathy; McDonald, Marie; Misra, Vinod K; Mulbury, Jennifer; Narayanan, Vinodh; Orenstein, Naama; Galvin-Parton, Patricia; Pedro, Helio; Pivnick, Eniko K; Powell, Cynthia M; Randolph, Linda; Raskin, Salmo.

Hum Mutat; 36(11): 1052-63, 2015 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-26178382

19.

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders.

Shashi, Vandana; McConkie-Rosell, Allyn; Rosell, Bruce; Schoch, Kelly; Vellore, Kasturi; McDonald, Marie; Jiang, Yong-Hui; Xie, Pingxing; Need, Anna; Goldstein, David B; Goldstein, David G.

Genet Med; 16(2): 176-82, 2014 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-23928913

20.

Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.

Stewart, Douglas R; Brems, Hilde; Gomes, Alicia G; Ruppert, Sarah L; Callens, Tom; Williams, Jennifer; Claes, Kathleen; Bober, Michael B; Hachen, Rachel; Kaban, Leonard B; Li, Hua; Lin, Angela; McDonald, Marie; Melancon, Serge; Ortenberg, June; Radtke, Heather B; Samson, Ignace; Saul, Robert A; Shen, Joseph; Siqveland, Elizabeth; Toler, Tomi L; van Maarle, Merel; Wallace, Margaret; Williams, Misti; Legius, Eric; Messiaen, Ludwine.

Genet Med; 16(6): 448-59, 2014 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-24232412

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