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Items: 14


Effects of immediate telephone follow-up with providers on sweat chloride test timing after cystic fibrosis newborn screening identifies a single mutation.

La Pean A, Farrell MH, Eskra KL, Farrell PM.

J Pediatr. 2013 Mar;162(3):522-9. doi: 10.1016/j.jpeds.2012.08.055. Epub 2012 Oct 24.


A qualitative secondary evaluation of statewide follow-up interviews for abnormal newborn screening results for cystic fibrosis and sickle cell hemoglobinopathy.

La Pean A, Collins JL, Christopher SA, Eskra KL, Roedl SJ, Tluczek A, Farrell MH.

Genet Med. 2012 Feb;14(2):207-14. doi: 10.1038/gim.0b013e31822dd7b8.


Factors that influence parents' experiences with results disclosure after newborn screening identifies genetic carrier status for cystic fibrosis or sickle cell hemoglobinopathy.

Collins JL, La Pean A, O'Tool F, Eskra KL, Roedl SJ, Tluczek A, Farrell MH.

Patient Educ Couns. 2013 Mar;90(3):378-85. doi: 10.1016/j.pec.2011.12.007. Epub 2012 Jan 11.


Improving communication between doctors and parents after newborn screening.

Farrell MH, Christopher SA, Tluczek A, Kennedy-Parker K, La Pean A, Eskra K, Collins J, Hoffman G, Panepinto J, Farrell PM.

WMJ. 2011 Oct;110(5):221-7.


Genetic testing and counseling for hereditary neurological diseases in Mali.

Meilleur KG, Coulibaly S, Traoré M, Landouré G, La Pean A, Sangaré M, Mochel F, Traoré S, Fischbeck KH, Han HR.

J Community Genet. 2011 Mar;2(1):33-42. doi: 10.1007/s12687-011-0038-0. Epub 2011 Feb 22.


Clinical and genetic analysis of spinocerebellar ataxia in Mali.

Traoré M, Coulibaly T, Meilleur KG, La Pean A, Sangaré M, Landouré G, Mochel F, Karambé M, Guinto CO, Fischbeck KH.

Eur J Neurol. 2011 Oct;18(10):1269-71. doi: 10.1111/j.1468-1331.2011.03376.x. Epub 2011 Mar 21.


Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial.

Fernández-Rhodes LE, Kokkinis AD, White MJ, Watts CA, Auh S, Jeffries NO, Shrader JA, Lehky TJ, Li L, Ryder JE, Levy EW, Solomon BI, Harris-Love MO, La Pean A, Schindler AB, Chen C, Di Prospero NA, Fischbeck KH.

Lancet Neurol. 2011 Feb;10(2):140-7. doi: 10.1016/S1474-4422(10)70321-5. Epub 2011 Jan 6.


Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19.

Meilleur KG, Traoré M, Sangaré M, Britton A, Landouré G, Coulibaly S, Niaré B, Mochel F, La Pean A, Rafferty I, Watts C, Shriner D, Littleton-Kearney MT, Blackstone C, Singleton A, Fischbeck KH.

Neurogenetics. 2010 Jul;11(3):313-8. doi: 10.1007/s10048-009-0230-0. Epub 2009 Dec 29.


Clinical features of spinal and bulbar muscular atrophy.

Rhodes LE, Freeman BK, Auh S, Kokkinis AD, La Pean A, Chen C, Lehky TJ, Shrader JA, Levy EW, Harris-Love M, Di Prospero NA, Fischbeck KH.

Brain. 2009 Dec;132(Pt 12):3242-51. doi: 10.1093/brain/awp258.


Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease.

Traoré M, Landouré G, Motley W, Sangaré M, Meilleur K, Coulibaly S, Traoré S, Niaré B, Mochel F, La Pean A, Vortmeyer A, Mani H, Fischbeck KH.

Neurogenetics. 2009 Oct;10(4):319-23. doi: 10.1007/s10048-009-0190-4. Epub 2009 Mar 26.


Predictors of progression in patients with Friedreich ataxia.

La Pean A, Jeffries N, Grow C, Ravina B, Di Prospero NA.

Mov Disord. 2008 Oct 30;23(14):2026-32. doi: 10.1002/mds.22248.


Initially misleading communication of carrier results after newborn genetic screening.

La Pean A, Farrell MH.

Pediatrics. 2005 Dec;116(6):1499-505.


Content of communication by pediatric residents after newborn genetic screening.

Farrell MH, La Pean A, Ladouceur L.

Pediatrics. 2005 Dec;116(6):1492-8.


Identification of genes responsible for osteoblast differentiation from human mesodermal progenitor cells.

Qi H, Aguiar DJ, Williams SM, La Pean A, Pan W, Verfaillie CM.

Proc Natl Acad Sci U S A. 2003 Mar 18;100(6):3305-10. Epub 2003 Mar 11.

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