Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies.

Rose, Nancy C; Barrie, Elizabeth S; Malinowski, Jennifer; Jenkins, Gabrielle P; McClain, Monica R; LaGrave, Danielle; Leung, Marco L.

Genet Med ; 24(7): 1379-1391, 2022 07.

Artigo em Inglês | MEDLINE | ID: mdl-35608568

2.

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).

Manickam, Kandamurugu; McClain, Monica R; Demmer, Laurie A; Biswas, Sawona; Kearney, Hutton M; Malinowski, Jennifer; Massingham, Lauren J; Miller, Danny; Yu, Timothy W; Hisama, Fuki M.

Genet Med ; 23(11): 2029-2037, 2021 11.

Artigo em Inglês | MEDLINE | ID: mdl-34211152

3.

Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment.

Weinreb, Neal J; Camelo, José Simon; Charrow, Joel; McClain, Monica R; Mistry, Pramod; Belmatoug, Nadia.

Mol Genet Metab ; 132(2): 100-111, 2021 02.

Artigo em Inglês | MEDLINE | ID: mdl-33485799

4.

Real-world effectiveness of eliglustat in treatment-naïve and switch patients enrolled in the International Collaborative Gaucher Group Gaucher Registry.

Mistry, Pramod K; Balwani, Manisha; Charrow, Joel; Kishnani, Priya; Niederau, Claus; Underhill, Lisa H; McClain, Monica R.

Am J Hematol ; 95(9): 1038-1046, 2020 09.

Artigo em Inglês | MEDLINE | ID: mdl-32438452

5.

Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies.

Rose, Nancy C; Barrie, Elizabeth S; Malinowski, Jennifer; Jenkins, Gabrielle P; McClain, Monica R; LaGrave, Danielle; Leung, Marco L.

Genet Med ; 24(9): 1992, 2022 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-36063164

6.

Critical Congenital Heart Disease Newborn Screening Implementation: Lessons Learned.

McClain, Monica R; Hokanson, John S; Grazel, Regina; Van Naarden Braun, Kim; Garg, Lorraine F; Morris, Michelle R; Moline, Kathleen; Urquhart, Keri; Nance, Amy; Randall, Harper; Sontag, Marci K.

Matern Child Health J ; 21(6): 1240-1249, 2017 06.

Artigo em Inglês | MEDLINE | ID: mdl-28092064

7.

Diagnosis, testing, treatment, and outcomes among patients with advanced non-small cell lung cancer in the United States.

Yang, Mo; MacEwan, Joanna P; Boppudi, Sai Sriteja; McClain, Monica R; O'Hara, Richard M; Paik, Paul K.

Cancer Med ; 12(24): 21605-21614, 2023 12.

Artigo em Inglês | MEDLINE | ID: mdl-38062905

8.

Erratum to: Critical Congenital Heart Disease Newborn Screening Implementation: Lessons Learned.

McClain, Monica R; Hokanson, John S; Grazel, Regina; Van Naarden Braun, Kim; Garg, Lorraine F; Morris, Michelle R; Moline, Kathleen; Urquhart, Keri; Nance, Amy; Randall, Harper; Sontag, Marci K.

Matern Child Health J ; 21(7): 1590, 2017 07.

Artigo em Inglês | MEDLINE | ID: mdl-28477067

9.

Variability in thyroid-stimulating hormone suppression by human chorionic [corrected] gonadotropin during early pregnancy.

Haddow, James E; McClain, Monica R; Lambert-Messerlian, Geralyn; Palomaki, Glenn E; Canick, Jacob A; Cleary-Goldman, Jane; Malone, Fergal D; Porter, T Flint; Nyberg, David A; Bernstein, Peter; D'Alton, Mary E.

J Clin Endocrinol Metab ; 93(9): 3341-7, 2008 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-18544616

10.

A rapid-ACCE review of CYP2C9 and VKORC1 alleles testing to inform warfarin dosing in adults at elevated risk for thrombotic events to avoid serious bleeding.

McClain, Monica R; Palomaki, Glenn E; Piper, Margaret; Haddow, James E.

Genet Med ; 10(2): 89-98, 2008 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-18281915

11.

Screen positive rates among six family history screening protocols for breast/ovarian cancer in four cohorts of women.

McClain, Monica R; Palomaki, Glenn E; Hampel, Heather; Westman, Judith A; Haddow, James E.

Fam Cancer ; 7(4): 341-5, 2008.

Artigo em Inglês | MEDLINE | ID: mdl-18297415

12.

Sequential first- and second-trimester TSH, free thyroxine, and thyroid antibody measurements in women with known hypothyroidism: a FaSTER trial study.

McClain, Monica R; Lambert-Messerlian, Geralyn; Haddow, James E; Palomaki, Glenn E; Canick, Jacob A; Cleary-Goldman, Jane; Malone, Fergal D; Porter, T Flint; Nyberg, David A; Bernstein, Peter; D'Alton, Mary E.

Am J Obstet Gynecol ; 199(2): 129.e1-6, 2008 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-18448078

13.

Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.

Pfendner, Ellen G; Vanakker, Olivier M; Terry, Sharon F; Vourthis, Sophia; McAndrew, Patricia E; McClain, Monica R; Fratta, Sarah; Marais, Anna-Susan; Hariri, Susan; Coucke, Paul J; Ramsay, Michele; Viljoen, Denis; Terry, Patrick F; De Paepe, Anne; Uitto, Jouni; Bercovitch, Lionel G.

J Med Genet ; 44(10): 621-8, 2007 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-17617515

14.

Urine iodine measurements, creatinine adjustment, and thyroid deficiency in an adult United States population.

Haddow, James E; McClain, Monica R; Palomaki, Glenn E; Hollowell, Joseph G.

J Clin Endocrinol Metab ; 92(3): 1019-22, 2007 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-17200163

15.

Using State Birth Defects Registries to Evaluate Regional Critical Congenital Heart Disease Newborn Screening.

Case, Amy Peterson; Miller, Stephanie D; McClain, Monica R.

Birth Defects Res ; 109(18): 1414-1422, 2017 Nov 01.

Artigo em Inglês | MEDLINE | ID: mdl-29152920

16.

Screening for thyroid disorders during pregnancy: results of a survey in Maine.

Haddow, James E; McClain, Monica R; Palomaki, Glenn E; Kloza, Edward M; Williams, Josephine.

Am J Obstet Gynecol ; 194(2): 471-4, 2006 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-16458648

17.

Trends in the diabetes quality improvement project measures in Maine from 1994 to 1999.

McClain, Monica R; Wennberg, David E; Sherwin, Roger W; Steinmann, William C; Rice, Janet C.

Diabetes Care ; 26(3): 597-601, 2003 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-12610007

18.

National Survey of Providers Treating Patients With Metabolic Disorders Identified by Newborn Screening Demonstrates Challenges Faced by Clinical Care Systems.

McClain, Monica R; McGrath, Robert J; Stransky, Michelle L; Benkendorf, Judith L.

Clin Pediatr (Phila) ; 54(8): 759-64, 2015 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-25469006

19.

EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome.

Palomaki, Glenn E; McClain, Monica R; Melillo, Stephanie; Hampel, Heather L; Thibodeau, Stephen N.

Genet Med ; 11(1): 42-65, 2009 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-19125127

20.

How reliable are BRCA1/2 mutation estimates?

McClain, Monica R; Palomaki, Glenn E; Haddow, James E.

Cancer Res ; 67(10): 5057; author reply 5057-8, 2007 May 15.

Artigo em Inglês | MEDLINE | ID: mdl-17510441

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Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies.

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).

Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment.

Real-world effectiveness of eliglustat in treatment-naïve and switch patients enrolled in the International Collaborative Gaucher Group Gaucher Registry.

Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies.

Critical Congenital Heart Disease Newborn Screening Implementation: Lessons Learned.

Diagnosis, testing, treatment, and outcomes among patients with advanced non-small cell lung cancer in the United States.

Erratum to: Critical Congenital Heart Disease Newborn Screening Implementation: Lessons Learned.

Variability in thyroid-stimulating hormone suppression by human chorionic [corrected] gonadotropin during early pregnancy.

A rapid-ACCE review of CYP2C9 and VKORC1 alleles testing to inform warfarin dosing in adults at elevated risk for thrombotic events to avoid serious bleeding.

Screen positive rates among six family history screening protocols for breast/ovarian cancer in four cohorts of women.

Sequential first- and second-trimester TSH, free thyroxine, and thyroid antibody measurements in women with known hypothyroidism: a FaSTER trial study.

Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.

Urine iodine measurements, creatinine adjustment, and thyroid deficiency in an adult United States population.

Using State Birth Defects Registries to Evaluate Regional Critical Congenital Heart Disease Newborn Screening.

Screening for thyroid disorders during pregnancy: results of a survey in Maine.

Trends in the diabetes quality improvement project measures in Maine from 1994 to 1999.

National Survey of Providers Treating Patients With Metabolic Disorders Identified by Newborn Screening Demonstrates Challenges Faced by Clinical Care Systems.

EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome.

How reliable are BRCA1/2 mutation estimates?