Búsqueda | Portal de Búsqueda de la BVS España

1.

Evidence and recommendation for mucopolysaccharidosis type II newborn screening in the United States.

Ream, Margie A; Lam, Wendy K K; Grosse, Scott D; Ojodu, Jelili; Jones, Elizabeth; Prosser, Lisa A; Rosé, Angela M; Comeau, Anne Marie; Tanksley, Susan; Powell, Cynthia M; Kemper, Alex R.

Genet Med; 25(2): 100330, 2023 02.

Artículo en Inglés | MEDLINE | ID: mdl-36445366

2.

Trends in Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Seroprevalence in Massachusetts Estimated from Newborn Screening Specimens.

Ma, Kevin C; Hale, Jaime E; Grad, Yonatan H; Alter, Galit; Luzuriaga, Katherine; Eaton, Roger B; Fischinger, Stephanie; Kaur, Devinder; Brody, Robin; Siddiqui, Sameed M; Leach, Dylan; Brown, Catherine M; Klevens, R Monina; Madoff, Lawrence; Comeau, Anne Marie.

Clin Infect Dis; 75(1): e105-e113, 2022 08 24.

Artículo en Inglés | MEDLINE | ID: mdl-35213690

3.

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.

Dobbs, Kerry; Domínguez Conde, Cecilia; Zhang, Shen-Ying; Parolini, Silvia; Audry, Magali; Chou, Janet; Haapaniemi, Emma; Keles, Sevgi; Bilic, Ivan; Okada, Satoshi; Massaad, Michel J; Rounioja, Samuli; Alwahadneh, Adel M; Serwas, Nina K; Capuder, Kelly; Çiftçi, Ergin; Felgentreff, Kerstin; Ohsumi, Toshiro K; Pedergnana, Vincent; Boisson, Bertrand; Haskologlu, Sule; Ensari, Arzu; Schuster, Michael; Moretta, Alessandro; Itan, Yuval; Patrizi, Ornella; Rozenberg, Flore; Lebon, Pierre; Saarela, Janna; Knip, Mikael; Petrovski, Slavé; Goldstein, David B; Parrott, Roberta E; Savas, Berna; Schambach, Axel; Tabellini, Giovanna; Bock, Christoph; Chatila, Talal A; Comeau, Anne Marie; Geha, Raif S; Abel, Laurent; Buckley, Rebecca H; Ikinciogullari, Aydan; Al-Herz, Waleed; Helminen, Merja; Dogu, Figen; Casanova, Jean-Laurent; Boztug, Kaan; Notarangelo, Luigi D.

N Engl J Med; 372(25): 2409-22, 2015 Jun 18.

Artículo en Inglés | MEDLINE | ID: mdl-26083206

4.

Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation.

Kemper, Alex R; Brosco, Jeffrey; Comeau, Anne Marie; Green, Nancy S; Grosse, Scott D; Jones, Elizabeth; Kwon, Jennifer M; Lam, Wendy K K; Ojodu, Jelili; Prosser, Lisa A; Tanksley, Susan.

Genet Med; 19(1): 121-126, 2017 01.

Artículo en Inglés | MEDLINE | ID: mdl-27337030

5.

A framework for assessing outcomes from newborn screening: on the road to measuring its promise.

Hinton, Cynthia F; Homer, Charles J; Thompson, Alexis A; Williams, Andrea; Hassell, Kathryn L; Feuchtbaum, Lisa; Berry, Susan A; Comeau, Anne Marie; Therrell, Bradford L; Brower, Amy; Harris, Katharine B; Brown, Christine; Monaco, Jana; Ostrander, Robert J; Zuckerman, Alan E; Kaye, Celia; Dougherty, Denise; Greene, Carol; Green, Nancy S.

Mol Genet Metab; 118(4): 221-9, 2016 08.

Artículo en Inglés | MEDLINE | ID: mdl-27268406

6.

Evaluating Harms in the Assessment of Net Benefit: A Framework for Newborn Screening Condition Review.

Goldenberg, Aaron J; Comeau, Anne Marie; Grosse, Scott D; Tanksley, Susan; Prosser, Lisa A; Ojodu, Jelili; Botkin, Jeffrey R; Kemper, Alex R; Green, Nancy S.

Matern Child Health J; 20(3): 693-700, 2016 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-26833040

7.

Defining a new immune deficiency syndrome: MAN2B2-CDG.

Verheijen, Jan; Wong, Sunnie Y; Rowe, Jared H; Raymond, Kimiyo; Stoddard, Jennifer; Delmonte, Ottavia M; Bosticardo, Marita; Dobbs, Kerry; Niemela, Julie; Calzoni, Enrica; Pai, Sung-Yun; Choi, Uimook; Yamazaki, Yasuhiro; Comeau, Anne Marie; Janssen, Erin; Henderson, Lauren; Hazen, Melissa; Berry, Gerard; Rosenzweig, Sergio D; Aldhekri, Hasan Hamdan; He, Miao; Notarangelo, Luigi D; Morava, Eva.

J Allergy Clin Immunol; 145(3): 1008-1011, 2020 03.

Artículo en Inglés | MEDLINE | ID: mdl-31775018

8.

Paradigm shifts in newborn screening?

Comeau, Anne Marie.

Genet Med; 21(3): 534-535, 2019 03.

Artículo en Inglés | MEDLINE | ID: mdl-30093708

9.

Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.

Chen, Rui; Giliani, Silvia; Lanzi, Gaetana; Mias, George I; Lonardi, Silvia; Dobbs, Kerry; Manis, John; Im, Hogune; Gallagher, Jennifer E; Phanstiel, Douglas H; Euskirchen, Ghia; Lacroute, Philippe; Bettinger, Keith; Moratto, Daniele; Weinacht, Katja; Montin, Davide; Gallo, Eleonora; Mangili, Giovanna; Porta, Fulvio; Notarangelo, Lucia D; Pedretti, Stefania; Al-Herz, Waleed; Alfahdli, Wasmi; Comeau, Anne Marie; Traister, Russell S; Pai, Sung-Yun; Carella, Graziella; Facchetti, Fabio; Nadeau, Kari C; Snyder, Michael; Notarangelo, Luigi D.

J Allergy Clin Immunol; 132(3): 656-664.e17, 2013 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-23830146

10.

Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.

Kwan, Antonia; Abraham, Roshini S; Currier, Robert; Brower, Amy; Andruszewski, Karen; Abbott, Jordan K; Baker, Mei; Ballow, Mark; Bartoshesky, Louis E; Bonilla, Francisco A; Brokopp, Charles; Brooks, Edward; Caggana, Michele; Celestin, Jocelyn; Church, Joseph A; Comeau, Anne Marie; Connelly, James A; Cowan, Morton J; Cunningham-Rundles, Charlotte; Dasu, Trivikram; Dave, Nina; De La Morena, Maria T; Duffner, Ulrich; Fong, Chin-To; Forbes, Lisa; Freedenberg, Debra; Gelfand, Erwin W; Hale, Jaime E; Hanson, I Celine; Hay, Beverly N; Hu, Diana; Infante, Anthony; Johnson, Daisy; Kapoor, Neena; Kay, Denise M; Kohn, Donald B; Lee, Rachel; Lehman, Heather; Lin, Zhili; Lorey, Fred; Abdel-Mageed, Aly; Manning, Adrienne; McGhee, Sean; Moore, Theodore B; Naides, Stanley J; Notarangelo, Luigi D; Orange, Jordan S; Pai, Sung-Yun; Porteus, Matthew; Rodriguez, Ray.

JAMA; 312(7): 729-38, 2014 Aug 20.

Artículo en Inglés | MEDLINE | ID: mdl-25138334

11.

Evidence and Recommendation for Guanidinoacetate Methyltransferase Deficiency Newborn Screening.

Ream, Margie A; Lam, Wendy K K; Grosse, Scott D; Ojodu, Jelili; Jones, Elizabeth; Prosser, Lisa A; Rose, Angela M; Comeau, Anne Marie; Tanksley, Susan; Powell, Cynthia M; Kemper, Alex R.

Pediatrics; 152(2)2023 08 01.

Artículo en Inglés | MEDLINE | ID: mdl-37465909

12.

A framework for key considerations regarding point-of-care screening of newborns.

Kemper, Alex R; Kus, Christopher A; Ostrander, Robert J; Comeau, Anne Marie; Boyle, Coleen A; Dougherty, Denise; Mann, Marie Y; Botkin, Jeffrey R; Green, Nancy S.

Genet Med; 14(12): 951-4, 2012 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-22899090

13.

Cellular calibrators to quantitate T-cell receptor excision circles (TRECs) in clinical samples.

Punwani, Divya; Gonzalez-Espinosa, Diana; Comeau, Anne Marie; Dutra, Amalia; Pak, Evgenia; Puck, Jennifer.

Mol Genet Metab; 107(3): 586-91, 2012 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-23062576

14.

Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors.

Kharrazi, Martin; Sacramento, Charlene; Comeau, Anne Marie; Hale, Jaime E; Caggana, Michele; Kay, Denise M; Lee, Rachel; Reilly, Brendan; Thompson, John D; Nasr, Samya Z; Kleyn, Mary; Hoffman, Gary; Baker, Mei W; Clarke, Colleen; Harris, Cheryl L; Dorley, M Christine; Fryman, Hilary; Sutaria, Ankit; Hietala, Amy; Winslow, Holly; Richards, Holly; Therrell, Bradford L.

Int J Neonatal Screen; 8(4)2022 Oct 27.

Artículo en Inglés | MEDLINE | ID: mdl-36412584

15.

Weighing the evidence for newborn screening for Hemoglobin H disease.

Kemper, Alex R; Knapp, Alixandra A; Metterville, Danielle R; Comeau, Anne Marie; Green, Nancy S; Perrin, James M.

J Pediatr; 158(5): 780-3, 2011 May.

Artículo en Inglés | MEDLINE | ID: mdl-21167500

16.

Novel Modification of a Confirmatory SMA Sequencing Assay that Can Be Used to Determine SMN2 Copy Number.

Kumar, Binod; Barton, Samantha; Kordowska, Jolanta; Eaton, Roger B; Counihan, Anne M; Hale, Jaime E; Comeau, Anne Marie.

Int J Neonatal Screen; 7(3)2021 Jul 21.

Artículo en Inglés | MEDLINE | ID: mdl-34449530

17.

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.

Artículo en Inglés | MEDLINE | ID: mdl-34071063

18.

Ten Years of Newborn Screening for Severe Combined Immunodeficiency (SCID) in Massachusetts.

Hale, Jaime E; Platt, Craig D; Bonilla, Francisco A; Hay, Beverly N; Sullivan, John L; Johnston, Alicia M; Pasternack, Mark S; Hesterberg, Paul E; Meissner, H Cody; Cooper, Ellen R; Barmettler, Sara; Farmer, Jocelyn R; Fisher, Donna; Walter, Jolan E; Yang, Nancy J; Sahai, Inderneel; Eaton, Roger B; DeMaria, Alfred; Notarangelo, Luigi D; Pai, Sung-Yun; Comeau, Anne Marie.

J Allergy Clin Immunol Pract; 9(5): 2060-2067.e2, 2021 05.

Artículo en Inglés | MEDLINE | ID: mdl-33607339

19.

Long-term follow-up to ensure quality care of individuals diagnosed with newborn screening conditions: early experience in New England.

Sahai, Inderneel; Eaton, Roger B; Hale, Jaime E; Mulcahy, Eleanor A; Comeau, Anne Marie.

Genet Med; 12(12 Suppl): S220-7, 2010 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-21150368

20.

Weighing the evidence for newborn screening for early-infantile Krabbe disease.

Kemper, Alex R; Knapp, Alixandra A; Green, Nancy S; Comeau, Anne Marie; Metterville, Danielle R; Perrin, James M.

Genet Med; 12(9): 539-43, 2010 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-20601893

Portal de Búsqueda de la BVS España

Información y Conocimiento para la Salud

Configurar filtros

Su selección (0)

Formato de exportación:

Exportar: