Pass KA - Search Results

1

Characterization of beta-globin haplotypes using blood spots from a population-based cohort of newborns with homozygous HbS.

Crawford DC, Caggana M, Harris KB, Lorey F, Nash C, Pass KA, Tempelis C, Olney RS. Crawford DC, et al. Among authors: pass ka. Genet Med. 2002 Sep-Oct;4(5):328-35. doi: 10.1097/00125817-200209000-00003. Genet Med. 2002. PMID: 12394345 Free article.

2

Trends in incidence rates of congenital hypothyroidism related to select demographic factors: data from the United States, California, Massachusetts, New York, and Texas.

Hinton CF, Harris KB, Borgfeld L, Drummond-Borg M, Eaton R, Lorey F, Therrell BL, Wallace J, Pass KA. Hinton CF, et al. Among authors: pass ka. Pediatrics. 2010 May;125 Suppl 2:S37-47. doi: 10.1542/peds.2009-1975D. Pediatrics. 2010. PMID: 20435716

3

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

McHugh D, Cameron CA, Abdenur JE, Abdulrahman M, Adair O, Al Nuaimi SA, Åhlman H, Allen JJ, Antonozzi I, Archer S, Au S, Auray-Blais C, Baker M, Bamforth F, Beckmann K, Pino GB, Berberich SL, Binard R, Boemer F, Bonham J, Breen NN, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Cariappa R, Carlisle C, Caruso U, Cassanello M, Castilla AM, Ramos DE, Chakraborty P, Chandrasekar R, Ramos AC, Cheillan D, Chien YH, Childs TA, Chrastina P, Sica YC, de Juan JA, Colandre ME, Espinoza VC, Corso G, Currier R, Cyr D, Czuczy N, D'Apolito O, Davis T, de Sain-Van der Velden MG, Delgado Pecellin C, Di Gangi IM, Di Stefano CM, Dotsikas Y, Downing M, Downs SM, Dy B, Dymerski M, Rueda I, Elvers B, Eaton R, Eckerd BM, El Mougy F, Eroh S, Espada M, Evans C, Fawbush S, Fijolek KF, Fisher L, Franzson L, Frazier DM, Garcia LR, Bermejo MS, Gavrilov D, Gerace R, Giordano G, Irazabal YG, Greed LC, Grier R, Grycki E, Gu X, Gulamali-Majid F, Hagar AF, Han L, Hannon WH, Haslip C, Hassan FA, He M, Hietala A, Himstedt L, Hoffman GL, Hoffman W, Hoggatt P, Hopkins PV, Hougaard DM, Hughes K, Hunt PR, Hwu WL, Hynes J, Ibarra… See abstract for full author list ➔ McHugh D, et al. Among authors: pass ka. Genet Med. 2011 Mar;13(3):230-54. doi: 10.1097/GIM.0b013e31820d5e67. Genet Med. 2011. PMID: 21325949 Free article.

4

Increase in congenital hypothyroidism in New York State and in the United States.

Harris KB, Pass KA. Harris KB, et al. Among authors: pass ka. Mol Genet Metab. 2007 Jul;91(3):268-77. doi: 10.1016/j.ymgme.2007.03.012. Epub 2007 May 23. Mol Genet Metab. 2007. PMID: 17512233

5

Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population.

Nichols MJ, Saavedra-Matiz CA, Pass KA, Caggana M. Nichols MJ, et al. Among authors: pass ka. Am J Med Genet A. 2008 Mar 1;146A(5):610-9. doi: 10.1002/ajmg.a.32192. Am J Med Genet A. 2008. PMID: 18241067

6

Rapid, efficient method for multiplex amplification from filter paper.

Caggana M, Conroy JM, Pass KA. Caggana M, et al. Among authors: pass ka. Hum Mutat. 1998;11(5):404-9. doi: 10.1002/(SICI)1098-1004(1998)11:5<404::AID-HUMU8>3.0.CO;2-S. Hum Mutat. 1998. PMID: 9600459

7

Estimate of the frequency of Wilson's disease in the US Caucasian population: a mutation analysis approach.

Olivarez L, Caggana M, Pass KA, Ferguson P, Brewer GJ. Olivarez L, et al. Among authors: pass ka. Ann Hum Genet. 2001 Sep;65(Pt 5):459-63. doi: 10.1017/S0003480001008764. Ann Hum Genet. 2001. PMID: 11806854

8

Diagnostic guidelines for newborns who screen positive in newborn screening.

Kronn D, Mofidi S, Braverman N, Harris K; Diagnostics Guidelines Work Group. Kronn D, et al. Genet Med. 2010 Dec;12(12 Suppl):S251-5. doi: 10.1097/GIM.0b013e3181fe5d8b. Genet Med. 2010. PMID: 21150371 Free article.

9

The frequency of GJB2 and GJB6 mutations in the New York State newborn population: feasibility of genetic screening for hearing defects.

Fitzgerald T, Duva S, Ostrer H, Pass K, Oddoux C, Ruben R, Caggana M. Fitzgerald T, et al. Clin Genet. 2004 Apr;65(4):338-42. doi: 10.1111/j.1399-0004.2004.00233.x. Clin Genet. 2004. PMID: 15025729

10

Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals.

Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Wang RY, et al. Genet Med. 2011 May;13(5):457-84. doi: 10.1097/GIM.0b013e318211a7e1. Genet Med. 2011. PMID: 21502868 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

67 results

Search Page

Filters