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Items: 1 to 20 of 75

1.

Novel liver findings in ornithine transcarbamylase deficiency due to Xp11.4-p21.1 microdeletion.

Gallant NM, Gui D, Lassman CR, Yong WH, Teitell M, Mandelker D, Lorey F, Martinez-Agosto JA, Quintero-Rivera F.

Gene. 2015 Feb 10;556(2):249-53. doi: 10.1016/j.gene.2014.11.057. Epub 2014 Nov 27.

PMID:
25434494
2.

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

Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, Baker M, Ballow M, Bartoshesky LE, Bonilla FA, Brokopp C, Brooks E, Caggana M, Celestin J, Church JA, Comeau AM, Connelly JA, Cowan MJ, Cunningham-Rundles C, Dasu T, Dave N, De La Morena MT, Duffner U, Fong CT, Forbes L, Freedenberg D, Gelfand EW, Hale JE, Hanson IC, Hay BN, Hu D, Infante A, Johnson D, Kapoor N, Kay DM, Kohn DB, Lee R, Lehman H, Lin Z, Lorey F, Abdel-Mageed A, Manning A, McGhee S, Moore TB, Naides SJ, Notarangelo LD, Orange JS, Pai SY, Porteus M, Rodriguez R, Romberg N, Routes J, Ruehle M, Rubenstein A, Saavedra-Matiz CA, Scott G, Scott PM, Secord E, Seroogy C, Shearer WT, Siegel S, Silvers SK, Stiehm ER, Sugerman RW, Sullivan JL, Tanksley S, Tierce ML 4th, Verbsky J, Vogel B, Walker R, Walkovich K, Walter JE, Wasserman RL, Watson MS, Weinberg GA, Weiner LB, Wood H, Yates AB, Puck JM, Bonagura VR.

JAMA. 2014 Aug 20;312(7):729-38. doi: 10.1001/jama.2014.9132. Erratum in: JAMA. 2014 Nov 26;312(20):2169. Bonagura, Vincent R [Added].

3.

Identification of galactose-1-phosphate uridyl transferase gene common mutations in dried blood spots.

Sartippour MR, Doroudian R, Frampton G, Lorey F, Helmer G, Ho T, Bhandal A.

Clin Chim Acta. 2014 Sep 25;436:298-302. doi: 10.1016/j.cca.2014.06.011. Epub 2014 Jun 25.

PMID:
24973740
4.

Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.

Merritt JL 2nd, Vedal S, Abdenur JE, Au SM, Barshop BA, Feuchtbaum L, Harding CO, Hermerath C, Lorey F, Sesser DE, Thompson JD, Yu A.

Mol Genet Metab. 2014 Apr;111(4):484-92. doi: 10.1016/j.ymgme.2014.01.009. Epub 2014 Jan 23.

PMID:
24503138
5.

Precursor-to-product ratios reflect biochemical phenotype in congenital adrenal hyperplasia.

Hicks RA, Yee JK, Mao CS, Graham S, Kharrazi M, Lorey F, Lee WP.

Metabolomics. 2014 Feb 1;10(1):123-131.

6.

Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database.

Lam C, Carter JM, Cederbaum SD, Neidich J, Gallant NM, Lorey F, Feuchtbaum L, Wong DA.

Mol Genet Metab. 2013 Dec;110(4):477-83. doi: 10.1016/j.ymgme.2013.09.006. Epub 2013 Sep 17.

PMID:
24103308
7.

Glycan-based biomarkers for mucopolysaccharidoses.

Lawrence R, Brown JR, Lorey F, Dickson PI, Crawford BE, Esko JD.

Mol Genet Metab. 2014 Feb;111(2):73-83. doi: 10.1016/j.ymgme.2013.07.016. Epub 2013 Jul 29. Review.

8.

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 Jul;132(1):140-50. doi: 10.1016/j.jaci.2013.04.024.

9.

High quality genome-wide genotyping from archived dried blood spots without DNA amplification.

St Julien KR, Jelliffe-Pawlowski LL, Shaw GM, Stevenson DK, O'Brodovich HM, Krasnow MA; Stanford BPD Study Group.

PLoS One. 2013 May 30;8(5):e64710. doi: 10.1371/journal.pone.0064710. Print 2013.

10.

A pilot study using residual newborn dried blood spots to assess the potential role of cytomegalovirus and Toxoplasma gondii in the etiology of congenital hydrocephalus.

Simeone RM, Rasmussen SA, Mei JV, Dollard SC, Frias JL, Shaw GM, Canfield MA, Meyer RE, Jones JL, Lorey F, Honein MA.

Birth Defects Res A Clin Mol Teratol. 2013 Jul;97(7):431-6. doi: 10.1002/bdra.23138. Epub 2013 May 28.

11.

WITHDRAWN: Glycan-based biomarkers for mucopolysaccharidoses.

Lawrence R, Brown JR, Lorey F, Dickson PI, Crawford BE, Esko JD.

Dis Markers. 2013 Feb 8. [Epub ahead of print]

12.

Newborn screening for SCID identifies patients with ataxia telangiectasia.

Mallott J, Kwan A, Church J, Gonzalez-Espinosa D, Lorey F, Tang LF, Sunderam U, Rana S, Srinivasan R, Brenner SE, Puck J.

J Clin Immunol. 2013 Apr;33(3):540-9. doi: 10.1007/s10875-012-9846-1. Epub 2012 Dec 20.

13.

Integrated and first trimester prenatal screening in California: program implementation and patient choice for follow-up services.

Currier R, Wu N, Van Meter K, Goldman S, Lorey F, Flessel M.

Prenat Diagn. 2012 Nov;32(11):1077-83. doi: 10.1002/pd.3961. Epub 2012 Aug 18.

PMID:
22903386
14.

Enhanced interpretation of newborn screening results without analyte cutoff values.

Marquardt G, Currier R, McHugh DM, Gavrilov D, Magera MJ, Matern D, Oglesbee D, Raymond K, Rinaldo P, Smith EH, Tortorelli S, Turgeon CT, Lorey F, Wilcken B, Wiley V, Greed LC, Lewis B, Boemer F, Schoos R, Marie S, Vincent MF, Sica YC, Domingos MT, Al-Thihli K, Sinclair G, Al-Dirbashi OY, Chakraborty P, Dymerski M, Porter C, Manning A, Seashore MR, Quesada J, Reuben A, Chrastina P, Hornik P, Atef Mandour I, Atty Sharaf SA, Bodamer O, Dy B, Torres J, Zori R, Cheillan D, Vianey-Saban C, Ludvigson D, Stembridge A, Bonham J, Downing M, Dotsikas Y, Loukas YL, Papakonstantinou V, Zacharioudakis GS, Baráth Á, Karg E, Franzson L, Jonsson JJ, Breen NN, Lesko BG, Berberich SL, Turner K, Ruoppolo M, Scolamiero E, Antonozzi I, Carducci C, Caruso U, Cassanello M, la Marca G, Pasquini E, Di Gangi IM, Giordano G, Camilot M, Teofoli F, Manos SM, Peterson CK, Mayfield Gibson SK, Sevier DW, Lee SY, Park HD, Khneisser I, Browning P, Gulamali-Majid F, Watson MS, Eaton RB, Sahai I, Ruiz C, Torres R, Seeterlin MA, Stanley EL, Hietala A, McCann M, Campbell C, Hopkins PV, de Sain-Van der Velden MG, Elvers B, Morrissey MA, Sunny S, Knoll D, Webster D, Frazier DM, McClure JD, Sesser DE, Willis SA, Rocha H, Vilarinho L, John C, Lim J, Caldwell SG, Tomashitis K, Castiñeiras Ramos DE, Cocho de Juan JA, Rueda Fernández I, Yahyaoui Macías R, Egea-Mellado JM, González-Gallego I, Delgado Pecellin C, García-Valdecasas Bermejo MS, Chien YH, Hwu WL, Childs T, McKeever CD, Tanyalcin T, Abdulrahman M, Queijo C, Lemes A, Davis T, Hoffman W, Baker M, Hoffman GL.

Genet Med. 2012 Jul;14(7):648-55. doi: 10.1038/gim.2012.2. Epub 2012 Feb 16.

PMID:
22766634
15.

Birth prevalence of disorders detectable through newborn screening by race/ethnicity.

Feuchtbaum L, Carter J, Dowray S, Currier RJ, Lorey F.

Genet Med. 2012 Nov;14(11):937-45. doi: 10.1038/gim.2012.76. Epub 2012 Jul 5.

PMID:
22766612
16.

Increased incidence of profound biotinidase deficiency among Hispanic newborns in California.

Cowan TM, Kazerouni NN, Dharajiya N, Lorey F, Roberson M, Hodgkinson C, Schrijver I.

Mol Genet Metab. 2012 Aug;106(4):485-7. doi: 10.1016/j.ymgme.2012.05.017. Epub 2012 May 30.

PMID:
22698809
17.

Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.

Gallant NM, Leydiker K, Tang H, Feuchtbaum L, Lorey F, Puckett R, Deignan JL, Neidich J, Dorrani N, Chang E, Barshop BA, Cederbaum SD, Abdenur JE, Wang RY.

Mol Genet Metab. 2012 May;106(1):55-61. doi: 10.1016/j.ymgme.2012.02.007. Epub 2012 Feb 9.

PMID:
22424739
18.

Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards.

Puckett RL, Orsini JJ, Pastores GM, Wang RY, Chang R, Saavedra-Matiz CA, Torres PA, Zeng B, Caggana M, Lorey F, Abdenur JE.

Mol Genet Metab. 2012 Jan;105(1):126-31. doi: 10.1016/j.ymgme.2011.10.010. Epub 2011 Oct 25.

PMID:
22115770
19.

An automated method on analysis of blood steroids using liquid chromatography tandem mass spectrometry: application to population screening for congenital adrenal hyperplasia in newborns.

Dhillon K, Ho T, Rich P, Xu D, Lorey F, She J, Bhandal A.

Clin Chim Acta. 2011 Nov 20;412(23-24):2076-84. doi: 10.1016/j.cca.2011.07.009. Epub 2011 Jul 23.

PMID:
21803033
20.

The California Prenatal Screening Program: "options and choices" not "coercion and eugenics".

Flessel MC, Lorey FW.

Genet Med. 2011 Aug;13(8):711-3. doi: 10.1097/GIM.0b013e3182272e25.

PMID:
21753732
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