Výsledky vyhledávání - "Elaine A Sugarman"

Molecular Testing for Cystic Fibrosis Carrier Status Practice Guidelines: Recommendations of the National Society of Genetic Counselors

Autor: Elinor Langfelder-Schwind, Elaine A Sugarman, Steven Keiles, Christina Zaleski, Joy B Redman, Trisha Brown, Amy Powers, Sumheda Ghate, Michelle N. Strecker, Rebecca J. Darrah, Barbara A. Karczeski

Publikováno v: Journal of Genetic Counseling. 23:5-15

To provide practice recommendations for genetic counselors whose clients are considering cystic fibrosis (CF) carrier testing or seeking information regarding CF molecular test results. The goals of these recommendations are to: 1) Provide updated in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3cfc45a63698c170b10b56943e3ff6c
https://doi.org/10.1007/s10897-013-9636-9

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Initial assessment of the benefits of implementing pharmacogenetics into the medical management of patients in a long-term care facility

Autor: Ali Cullors, Kahuku Oades, Jorge A. Garces, Elaine A. Sugarman, Joel Centeno, David Taylor, Juan-Sebastian Saldivar

Publikováno v: Pharmacogenomics and Personalized Medicine

The health care costs associated with prescription drugs are enormous, particularly in patients with polypharmacy (taking more than five prescription medications), and they continue to grow annually. The evolution of pharmacogenetics has provided cli

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8eb41f2a9b05a46e149e42d593ad60ba
https://www.dovepress.com/initial-assessment-of-the-benefits-of-implementing-pharmacogenetics-in-peer-reviewed-article-PGPM

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Differences in SMN1 allele frequencies among ethnic groups within North America

Autor: Kerry Flynn, Paul Labrousse, Andrew M. Walker, Christopher Sears, Bernice A Allitto, Colin Donohoe, Elizabeth M. Rohlfs, Elaine A Sugarman, Leonid Boguslavskiy, Brant C. Hendrickson, Thomas Scholl, Viatcheslav R. Akmaev

Publikováno v: Journal of Medical Genetics

Background: Spinal muscular atrophy (SMA) is the most common inherited lethal disease of children. Various genetic deletions involving the bi-allelic loss of SMN1 exon 7 are reported to account for 94% of affected individuals. Published literature pl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4243e8e043d9317c943aba9ebb0e8587
https://doi.org/10.1136/jmg.2009.066969

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High Allelic Heterogeneity Between Afro-Brazilians and Euro-Brazilians Impacts Cystic Fibrosis Genetic Testing

Autor: Ruth A. Heim, Lodercio Culpi, Nelson Rosario, Lairton Valentim, Bernice Allito, John A. Phillips, Norberto Ludwig, Salmo Raskin, Elaine A Sugarman, Fabio R. Faucz, Francisco J.C. Reis, Christian M. Probst, Lilian Pereira

Publikováno v: Genetic Testing. 7:213-218

Cystic fibrosis (CF) is an autosomal recessive disease caused by at least 1,000 different mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR). To determine the frequency of 70 common worldwide CFTR mutations in 155 Euro-B

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edd99440487947ea29102c0bd23d902a
https://doi.org/10.1089/109065703322537223

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The I148T CFTR allele occurs on multiple haplotypes: A complex allele is associated with cystic fibrosis

Autor: Ruth A. Heim, Bernice A Allitto, Lawrence M. Silverman, Elizabeth M. Rohlfs, Elaine A Sugarman, Michael R. Knowles, Rhonda G. Pace, Zhaoqing Zhou

Publikováno v: Genetics in Medicine. 4:319-323

Purpose: To determine whether CFTR intragenic changes modulate the cystic fibrosis (CF) phenotype in individuals who are positive for the I148T allele. Methods: The CFTR genes from individuals who carried at least one copy of the I148T allele were an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2e3e27e2c9ad1bc691c73772bf07a5a
https://doi.org/10.1097/00125817-200209000-00001

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Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of72,400 specimens

Autor: Hui Zhu, Elizabeth M. Rohlfs, Viatcheslav R. Akmaev, Narasimhan Nagan, Kerry Flynn, Zhaoqing Zhou, Deborah Alexa Sirko-Osadsa, Brant C. Hendrickson, Thomas Scholl, Elaine A Sugarman, Bernice A Allitto

Publikováno v: European Journal of Human Genetics

Spinal muscular atrophy (SMA) is a leading inherited cause of infant death with a reported incidence of ~1 in 10,000 live births and is second to cystic fibrosis as a common, life-shortening autosomal recessive disorder. The American College of Medic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c932a049ff6aab852120db7e5c2f967
https://pubmed.ncbi.nlm.nih.gov/21811307

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Technical standards and guidelines for spinal muscular atrophy testing

Autor: Sat v. De Batish, Elaine A Sugarman, Corey D. Braastad, Thomas W. Prior, Narasimhan Nagan

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics. 13(7)

Spinal muscular atrophy is a common autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron (SMN1) gene, affecting approximately 1 in 10,000 live births. The disease is characterized by progressive symmetrical musc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dbed6b42faef0377fab5b154d9a5217
https://pubmed.ncbi.nlm.nih.gov/27359095

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Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors

Autor: Elinor Langfelder-Schwind, Elaine A Sugarman, Seth Marcus, Joy B Redman, Barbara Pettersen, Kim Jensen, Trisha Brown, Edward M. Kloza

Publikováno v: Journal of genetic counseling. 14(1)

For over a decade, prenatal screening for cystic fibrosis (CF) has been considered a model for the integration of genetic testing into routine medical practice. Data from pilot studies and public policy discourse have led to recommendations by some p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04cc9118a35ecb63616cd7657942d775
https://pubmed.ncbi.nlm.nih.gov/15789152

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Analysis of 3208 cystic fibrosis prenatal diagnoses: impact of carrier screening guidelines on distribution of indications for CFTR mutation and IVS-8 poly(T) analyses

Autor: Elaine A Sugarman, Elizabeth M. Rohlfs, Vivian Weinblatt, Karen J Treat

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics. 6(5)

To evaluate and quantify indications for CFTR mutation analysis of prenatal specimens, and to determine if a significant portion of tests are performed only for the identification of 5T alleles, we surveyed our laboratory data over a 3-year time peri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a5f231bd280cb68557dfef8d034b9b3
https://pubmed.ncbi.nlm.nih.gov/15371904

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