Innovación Artículos académicos

Esta página contiene un surtido de artículos académicos recientemente publicados. Estos artículos no necesariamente representan el credo ni los ideales que fundamentan Baby’s First Test, sin embargo nuestro propósito es que sirvan de recurso para los individuos que buscan obras académicos relacionadas a la evaluación de recién nacidos. No dude en revisar con frecuencia esta página, ya que la actualizaremos con regularidad.

Medium-chain Acyl-CoA Dehydrogenase Deficiency Associated with a Novel Splice Mutation in the ACADM Gene Missed by Newborn Screening

Sarah C. Grünert, A. Wehrie, P. Villavicencio-Lorini, E. Lausch, B. Vetter, K.O. Schwab, S. Tucci, U. Spiekerkoetter

BMC Medical Genetics 2015, 16:56  doi:10.1186/s12881-015-0199-5

Recommendations for the Pediatric Endocrine Society for Evaluation and Management of Persistent Hypoglycemia in Neonates, Infants, and Children.

Paul S. Thornton, MB, BCh1 , Charles A. Stanley, MD2 , Diva D. De Leon, MD, MSCE2 , Deborah Harris, PhD3 , Morey W. Haymond, MD4 , Khalid Hussain, MD, MPH5 , Lynne L. Levitsky, MD6 , Mohammad H. Murad, MD, MPH7 , Paul J. Rozance, MD8 , Rebecca A. Simmons, MD9 , Mark A. Sperling, MBBS10, David A. Weinstein, MD, MMSc11, Neil H. White, MD12, and Joseph I. Wolfsdorf, MB, BCh13

Journal of Pediatrics. http://dx.doi.org/10.1016/j.jpeds.2015.03.057

Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: Results of the first 2 years.

Kwan A, Church JA, Cowan MJ, Agarwal R, Kapoor N, Kohn DB, Lewis DB, McGhee SA, Moore TB, Stiehm ER, Porteus M, Aznar CP, Currier R, Lorey F, Puck JM. J Allergy Clin Immunol. 2013 July. doi: 10.1016/j.jaci.2013.04.024

Implementing recommended screening for critical congenital heart disease

Martin GR, Beekman RH 3rd, Mikula EB, Fasules J, Garg LF, Kemper AR, Morrow WR, Pearson GD, Mahle WT. Pediatr 2013 Jul. [publicación electrónica previa a impresa]

Optimizing Newborn Screening for Congenital Adrenal Hyperplasia

Perrin C., White MD. J Pediatrics. 2013 July.

Novel CFTR Variants Identified during the First 3 Years of Cystic Fibrosis Newborn Screenng in California

Prach L, Koepke R, Kharrazi M., Keiles S., et al. J Mol Diagn. 2013 Jun 27. [publicación electrónica previa a impresa]

Parents' interest in whole-genome sequencing of newborns

Goldenberg AJ, Dodson DS, Davis MM, Tarini BA. Genet Med U S A. 2013 Jun 6. [publicación electrónica previa a impresa]

Congenital Adrenal Hyperplasia and the Second Newborn Screen

Chan CL, McFann K, Taylor L., Wright D., Zeitler PS, Barker JM. J Pediatr 2013 Feb 12. [publicación electrónica previa a impresa]

Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

New MI, Abraham M, Gonzalez B, Dumic M, Razzaghy-Azar M, Chitayat D, Sun L, Zaidi M, Wilson RC, Yuen T. Proc Natl Acad Sci U S A. 2013 Jan 28. [publicación electrónica previa a impresa]

Parent's attitude toward prenatal diagnosis and termination of pregnancy could be influenced by other factors rather than by the severity of the condition

Alsulaiman A, Abu-Amero KK., Prenat Diagn. 2013 Jan 24. doi: 10.1002/pd.4055. [publicación electrónica previa a impresa]

Informed decision making regarding antenatal screening for fetal abnormality in the United Kingdom: A qualitative study of parents and professionals

Barr O, Skirton H., Nurs Health Sci. 2013 Jan 24. doi: 10.1111/nhs.12034. [publicación electrónica previa a impresa]

Current Practice and Attitudes of Australian Obstetricians Toward Population-Based Carrier Screening for Inherited Conditions

Stark Z, Massie J, McClaren B, Ioannou L, Cousens N, Lewis S, Metcalfe S, Delatycki MB., Twin Res Hum Genet. 2013 Jan 21:1-7. [publicación electrónica previa a impresa]

La evaluación prenatal

Cascade carrier testing after a child is diagnosed with cystic fibrosis through newborn screening: investigating why most relatives do not have testing

McClaren BJ, Aitken M, Massie J, Amor D, Ukoumunne OC, Metcalfe SA., Genet Med. 2013 Jan 24. doi: 10.1038/gim.2012.175. [publicación electrónica previa a impresa]

La evaluación neonatal

An approach to family-centered coordinated co-management for individuals with conditions identified through newborn screening
Cooley WC, Kemper AR., Genet Med. 2013 Jan 31. doi: 10.1038/gim.2012.122. [publicación electrónica previa a impresa]

Implications of Newborn Screening for Nurses
Deluca J, Zanni KL, Bonhomme N, Kemper AR., J Nurs Scholarsh. 2013 Jan 31. doi: 10.1111/jnu.12005. [publicación electrónica previa a impresa]

Expectations and values about expanded newborn screening: a public engagement study
Hayeems RZ, Miller FA, Bombard Y, Avard D, Carroll J, Wilson B, Little J, Chakraborty P, Bytautas J, Giguere Y, Allanson J, Axler R., Health Expect. 2013 Feb 1. doi: 10.1111/hex.12047. [publicación electrónica previa a impresa]

Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK)
Moat SJ, Bradley DM, Salmon R, Clarke A, Hartley L., Eur J Hum Genet. 2013 Jan 23. doi: 10.1038/ejhg.2012.301. [publicación electrónica previa a impresa]


"He didn't say that thalassaemia might come up" - Beta-thalassaemia carriers' experiences and attitudes
Cousens NE, Gaff CL, Metcalfe SA, Delatycki MB., J Community Genet. 2013 Jan 13. [publicación electrónica previa a impresa]


Newborn Oxygen Saturation at Mild Altitude versus Sea Level: Implications for Neonatal Screening for Critical Congenital Heart Disease.Samuel TY, Bromiker R, Mimouni FB, Picard E, Lahav S, Mandel D, Goldberg S, Acta Paediatr. 2013 Jan 8.  [publicación electrónica previa a impresa]

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