Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder.

Morava, Eva; Schatz, Ulrich A; Torring, Pernille M; Abbott, Mary-Alice; Baumann, Matthias; Brasch-Andersen, Charlotte; Chevalier, Nathalie; Dunkhase-Heinl, Ulrike; Fleger, Martin; Haack, Tobias B; Nelson, Stephen; Potelle, Sven; Radenkovic, Silvia; Bommer, Guido T; Van Schaftingen, Emile; Veiga-da-Cunha, Maria.

Am J Hum Genet ; 108(6): 1151-1160, 2021 06 03.

Artigo em Inglês | MEDLINE | ID: mdl-33979636

2.

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.

Richard, Elodie M; Bakhtiari, Somayeh; Marsh, Ashley P L; Kaiyrzhanov, Rauan; Wagner, Matias; Shetty, Sheetal; Pagnozzi, Alex; Nordlie, Sandra M; Guida, Brandon S; Cornejo, Patricia; Magee, Helen; Liu, James; Norton, Bethany Y; Webster, Richard I; Worgan, Lisa; Hakonarson, Hakon; Li, Jiankang; Guo, Yiran; Jain, Mahim; Blesson, Alyssa; Rodan, Lance H; Abbott, Mary-Alice; Comi, Anne; Cohen, Julie S; Alhaddad, Bader; Meitinger, Thomas; Lenz, Dominic; Ziegler, Andreas; Kotzaeridou, Urania; Brunet, Theresa; Chassevent, Anna; Smith-Hicks, Constance; Ekstein, Joseph; Weiden, Tzvi; Hahn, Andreas; Zharkinbekova, Nazira; Turnpenny, Peter; Tucci, Arianna; Yelton, Melissa; Horvath, Rita; Gungor, Serdal; Hiz, Semra; Oktay, Yavuz; Lochmuller, Hanns; Zollino, Marcella; Morleo, Manuela; Marangi, Giuseppe; Nigro, Vincenzo; Torella, Annalaura; Pinelli, Michele.

Am J Hum Genet ; 108(10): 2006-2016, 2021 10 07.

Artigo em Inglês | MEDLINE | ID: mdl-34626583

3.

Prenatal diagnosis of Hartsfield syndrome with a novel genetic variant.

Rich, Matthew; Schroeder, Bradley; Manning, Courtney; Abbott, Mary-Alice.

Prenat Diagn ; 43(13): 1671-1673, 2023 12.

Artigo em Inglês | MEDLINE | ID: mdl-38013637

4.

The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.

Stevens, Servi J C; Stumpel, Constance T R M; Diderich, Karin E M; van Slegtenhorst, Marjon A; Abbott, Mary-Alice; Manning, Courtney; Balciuniene, Jorune; Pyle, Louise C; Leonard, Jacqueline; Murrell, Jill R; van de Putte, Romy; van Rooij, Iris A L M; Hoischen, Alexander; Lasko, Paul; Brunner, Han G.

Clin Genet ; 101(2): 183-189, 2022 02.

Artigo em Inglês | MEDLINE | ID: mdl-34671974

5.

Rejecting Gargoylism: Reflections on the term and its relationship to Hurler syndrome.

Abbott, Mary-Alice; Diebold, William J; Rosengren, Sally S.

Am J Med Genet C Semin Med Genet ; 187(2): 219-223, 2021 06.

Artigo em Inglês | MEDLINE | ID: mdl-33982836

6.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.

Sheppard, Sarah E; Campbell, Ian M; Harr, Margaret H; Gold, Nina; Li, Dong; Bjornsson, Hans T; Cohen, Julie S; Fahrner, Jill A; Fatemi, Ali; Harris, Jacqueline R; Nowak, Catherine; Stevens, Cathy A; Grand, Katheryn; Au, Margaret; Graham, John M; Sanchez-Lara, Pedro A; Campo, Miguel Del; Jones, Marilyn C; Abdul-Rahman, Omar; Alkuraya, Fowzan S; Bassetti, Jennifer A; Bergstrom, Katherine; Bhoj, Elizabeth; Dugan, Sarah; Kaplan, Julie D; Derar, Nada; Gripp, Karen W; Hauser, Natalie; Innes, A Micheil; Keena, Beth; Kodra, Neslida; Miller, Rebecca; Nelson, Beverly; Nowaczyk, Malgorzata J; Rahbeeni, Zuhair; Ben-Shachar, Shay; Shieh, Joseph T; Slavotinek, Anne; Sobering, Andrew K; Abbott, Mary-Alice; Allain, Dawn C; Amlie-Wolf, Louise; Au, Ping Yee Billie; Bedoukian, Emma; Beek, Geoffrey; Barry, James; Berg, Janet; Bernstein, Jonathan A; Cytrynbaum, Cheryl; Chung, Brian Hon-Yin.

Am J Med Genet A ; 185(6): 1649-1665, 2021 06.

Artigo em Inglês | MEDLINE | ID: mdl-33783954

7.

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.

Ng, Bobby G; Eklund, Erik A; Shiryaev, Sergey A; Dong, Yin Y; Abbott, Mary-Alice; Asteggiano, Carla; Bamshad, Michael J; Barr, Eileen; Bernstein, Jonathan A; Chelakkadan, Shabeed; Christodoulou, John; Chung, Wendy K; Ciliberto, Michael A; Cousin, Janice; Gardiner, Fiona; Ghosh, Suman; Graf, William D; Grunewald, Stephanie; Hammond, Katherine; Hauser, Natalie S; Hoganson, George E; Houck, Kimberly M; Kohler, Jennefer N; Morava, Eva; Larson, Austin A; Liu, Pengfei; Madathil, Sujana; McCormack, Colleen; Meeks, Naomi J L; Miller, Rebecca; Monaghan, Kristin G; Nickerson, Deborah A; Palculict, Timothy Blake; Papazoglu, Gabriela Magali; Pletcher, Beth A; Scheffer, Ingrid E; Schenone, Andrea Beatriz; Schnur, Rhonda E; Si, Yue; Rowe, Leah J; Serrano Russi, Alvaro H; Russo, Rossana Sanchez; Thabet, Farouq; Tuite, Allysa; Villanueva, María Mercedes; Wang, Raymond Y; Webster, Richard I; Wilson, Dorcas; Zalan, Alice; Wolfe, Lynne A.

J Inherit Metab Dis ; 43(6): 1333-1348, 2020 11.

Artigo em Inglês | MEDLINE | ID: mdl-32681751

8.

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Reuser, Arnold J J; van der Ploeg, Ans T; Chien, Yin-Hsiu; Llerena, Juan; Abbott, Mary-Alice; Clemens, Paula R; Kimonis, Virginia E; Leslie, Nancy; Maruti, Sonia S; Sanson, Bernd-Jan; Araujo, Roberto; Periquet, Magali; Toscano, Antonio; Kishnani, Priya S.

Hum Mutat ; 40(11): 2146-2164, 2019 11.

Artigo em Inglês | MEDLINE | ID: mdl-31342611

9.

Apparent Mineralocorticoid Excess in the Pediatric Population: Report of a Novel Pathogenic Variant of the 11ß-HSD2 Gene and Systematic Review of the Literature.

Adamidis, Adam; Cantas-Orsdemir, Sena; Tsirka, Anna; Abbott, Mary-Alice; Visintainer, Paul; Tonyushkina, Ksenia.

Pediatr Endocrinol Rev ; 16(3): 335-358, 2019 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-30888125

10.

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

Zarate, Yuri A; Smith-Hicks, Constance L; Greene, Carol; Abbott, Mary-Alice; Siu, Victoria M; Calhoun, Amy R U L; Pandya, Arti; Li, Chumei; Sellars, Elizabeth A; Kaylor, Julie; Bosanko, Katherine; Kalsner, Louisa; Basinger, Alice; Slavotinek, Anne M; Perry, Hazel; Saenz, Margarita; Szybowska, Marta; Wilson, Louise C; Kumar, Ajith; Brain, Caroline; Balasubramanian, Meena; Dubbs, Holly; Ortiz-Gonzalez, Xilma R; Zackai, Elaine; Stein, Quinn; Powell, Cynthia M; Schrier Vergano, Samantha; Britt, Allison; Sun, Angela; Smith, Wendy; Bebin, E Martina; Picker, Jonathan; Kirby, Amelia; Pinz, Hailey; Bombei, Hannah; Mahida, Sonal; Cohen, Julie S; Fatemi, Ali; Vernon, Hilary J; McClellan, Rebecca; Fleming, Leah R; Knyszek, Brittney; Steinraths, Michelle; Velasco Gonzalez, Cruz; Beck, Anita E; Golden-Grant, Katie L; Egense, Alena; Parikh, Aditi; Raimondi, Chantalle; Angle, Brad.

Am J Med Genet A ; 176(4): 925-935, 2018 04.

Artigo em Inglês | MEDLINE | ID: mdl-29436146

11.

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

12.

Case report: MELAS and concomitant presumed antiphospholipid antibody syndrome in an adult woman.

Nouduri, Sirisha; Padmanabhan, Rajiv; Hicks, Richard; Abbott, Mary-Alice; O'Brien, Dennis; Schlaug, Gottfried.

Front Neurol ; 13: 1043695, 2022.

Artigo em Inglês | MEDLINE | ID: mdl-36588908

13.

Atypical immunologic response in a patient with CRIM-negative Pompe disease.

Abbott, Mary-Alice; Prater, Sean N; Banugaria, Suhrad G; Richards, Susan M; Young, Sarah P; Rosenberg, Amy S; Kishnani, Priya S.

Mol Genet Metab ; 104(4): 583-6, 2011 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-21889385

14.

Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy.

Hale, Jaime E; Darras, Basil T; Swoboda, Kathryn J; Estrella, Elicia; Chen, Jin Yun Helen; Abbott, Mary-Alice; Hay, Beverly N; Kumar, Binod; Counihan, Anne M; Gerstel-Thompson, Jacalyn; Sahai, Inderneel; Eaton, Roger B; Comeau, Anne Marie.

Int J Neonatal Screen ; 7(2)2021 May 23.

Artigo em Inglês | MEDLINE | ID: mdl-34071063

15.

Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.

Hikmat, Omar; Isohanni, Pirjo; Keshavan, Nandaki; Ferla, Matteo P; Fassone, Elisa; Abbott, Mary-Alice; Bellusci, Marcello; Darin, Niklas; Dimmock, David; Ghezzi, Daniele; Houlden, Henry; Invernizzi, Federica; Kamarus Jaman, Nazreen B; Kurian, Manju A; Morava, Eva; Naess, Karin; Ortigoza-Escobar, Juan Darío; Parikh, Sumit; Pennisi, Alessandra; Barcia, Giulia; Tylleskär, Karin B; Brackman, Damien; Wortmann, Saskia B; Taylor, Jenny C; Bindoff, Laurence A; Fellman, Vineta; Rahman, Shamima.

Ann Clin Transl Neurol ; 8(11): 2155-2165, 2021 11.

Artigo em Inglês | MEDLINE | ID: mdl-34662929

16.

EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.

Hüffmeier, Ulrike; Kraus, Cornelia; Reuter, Miriam S; Uebe, Steffen; Abbott, Mary-Alice; Ahmed, Syed A; Rawson, Kristyn L; Barr, Eileen; Li, Hong; Bruel, Ange-Line; Faivre, Laurence; Tran Mau-Them, Frédéric; Botti, Christina; Brooks, Susan; Burns, Kaitlyn; Ward, D Isum; Dutra-Clarke, Marina; Martinez-Agosto, Julian A; Lee, Hane; Nelson, Stanley F; Zacher, Pia; Abou Jamra, Rami; Klöckner, Chiara; McGaughran, Julie; Kohlhase, Jürgen; Schuhmann, Sarah; Moran, Ellen; Pappas, John; Raas-Rothschild, Annick; Sacoto, Maria J Guillen; Henderson, Lindsay B; Palculict, Timothy Blake; Mullegama, Sureni V; Zghal Elloumi, Houda; Reich, Adi; Schrier Vergano, Samantha A; Wahl, Erica; Reis, André; Zweier, Christiane.

Orphanet J Rare Dis ; 16(1): 136, 2021 03 18.

Artigo em Inglês | MEDLINE | ID: mdl-33736665

17.

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.

El-Hattab, Ayman W; Smolarek, Teresa A; Walker, Martha E; Schorry, Elizabeth K; Immken, LaDonna L; Patel, Gayle; Abbott, Mary-Alice; Lanpher, Brendan C; Ou, Zhishuo; Kang, Sung-Hae L; Patel, Ankita; Scaglia, Fernando; Lupski, James R; Cheung, Sau Wai; Stankiewicz, Pawel.

Hum Genet ; 126(4): 589-602, 2009 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-19557438

18.

Cleft lip and palate.

Abbott, Mary-Alice.

Pediatr Rev ; 35(5): 177-81, 2014 May.

Artigo em Inglês | MEDLINE | ID: mdl-24790071

19.

Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings.

Richardson, Annely; Berry, Gerard T; Garganta, Cheryl; Abbott, Mary-Alice.

JIMD Rep ; 32: 25-32, 2017.

Artigo em Inglês | MEDLINE | ID: mdl-27295195

20.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Redin, Claire; Brand, Harrison; Collins, Ryan L; Kammin, Tammy; Mitchell, Elyse; Hodge, Jennelle C; Hanscom, Carrie; Pillalamarri, Vamsee; Seabra, Catarina M; Abbott, Mary-Alice; Abdul-Rahman, Omar A; Aberg, Erika; Adley, Rhett; Alcaraz-Estrada, Sofia L; Alkuraya, Fowzan S; An, Yu; Anderson, Mary-Anne; Antolik, Caroline; Anyane-Yeboa, Kwame; Atkin, Joan F; Bartell, Tina; Bernstein, Jonathan A; Beyer, Elizabeth; Blumenthal, Ian; Bongers, Ernie M H F; Brilstra, Eva H; Brown, Chester W; Brüggenwirth, Hennie T; Callewaert, Bert; Chiang, Colby; Corning, Ken; Cox, Helen; Cuppen, Edwin; Currall, Benjamin B; Cushing, Tom; David, Dezso; Deardorff, Matthew A; Dheedene, Annelies; D'Hooghe, Marc; de Vries, Bert B A; Earl, Dawn L; Ferguson, Heather L; Fisher, Heather; FitzPatrick, David R; Gerrol, Pamela; Giachino, Daniela; Glessner, Joseph T; Gliem, Troy; Grady, Margo; Graham, Brett H.

Nat Genet ; 49(1): 36-45, 2017 01.

Artigo em Inglês | MEDLINE | ID: mdl-27841880

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