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1.

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.

Harms, Frederike Leonie; Girisha, Katta M; Hardigan, Andrew A; Kortüm, Fanny; Shukla, Anju; Alawi, Malik; Dalal, Ashwin; Brady, Lauren; Tarnopolsky, Mark; Bird, Lynne M; Ceulemans, Sophia; Bebin, Martina; Bowling, Kevin M; Hiatt, Susan M; Lose, Edward J; Primiano, Michelle; Chung, Wendy K; Juusola, Jane; Akdemir, Zeynep C; Bainbridge, Matthew; Charng, Wu-Lin; Drummond-Borg, Margaret; Eldomery, Mohammad K; El-Hattab, Ayman W; Saleh, Mohammed A M; Bézieau, Stéphane; Cogné, Benjamin; Isidor, Bertrand; Küry, Sébastien; Lupski, James R; Myers, Richard M; Cooper, Gregory M; Kutsche, Kerstin.

Am J Hum Genet ; 100(1): 117-127, 2017 Jan 05.

Artículo en Inglés | MEDLINE | ID: mdl-28017373

2.

Genomic sequencing identifies secondary findings in a cohort of parent study participants.

Thompson, Michelle L; Finnila, Candice R; Bowling, Kevin M; Brothers, Kyle B; Neu, Matthew B; Amaral, Michelle D; Hiatt, Susan M; East, Kelly M; Gray, David E; Lawlor, James M J; Kelley, Whitley V; Lose, Edward J; Rich, Carla A; Simmons, Shirley; Levy, Shawn E; Myers, Richard M; Barsh, Gregory S; Bebin, E Martina; Cooper, Gregory M.

Genet Med ; 20(12): 1635-1643, 2018 12.

Artículo en Inglés | MEDLINE | ID: mdl-29790872

3.

Schaaf-Yang syndrome overview: Report of 78 individuals.

McCarthy, John; Lupo, Philip J; Kovar, Erin; Rech, Megan; Bostwick, Bret; Scott, Daryl; Kraft, Katerina; Roscioli, Tony; Charrow, Joel; Schrier Vergano, Samantha A; Lose, Edward; Smiegel, Robert; Lacassie, Yves; Schaaf, Christian P.

Am J Med Genet A ; 176(12): 2564-2574, 2018 12.

Artículo en Inglés | MEDLINE | ID: mdl-30302899

4.

Clinical relevance of small copy-number variants in chromosomal microarray clinical testing.

Hollenbeck, Dana; Williams, Crescenda L; Drazba, Kathryn; Descartes, Maria; Korf, Bruce R; Rutledge, S Lane; Lose, Edward J; Robin, Nathaniel H; Carroll, Andrew J; Mikhail, Fady M.

Genet Med ; 19(4): 377-385, 2017 04.

Artículo en Inglés | MEDLINE | ID: mdl-27632688

5.

Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results.

Brothers, Kyle B; East, Kelly M; Kelley, Whitley V; Wright, M Frances; Westbrook, Matthew J; Rich, Carla A; Bowling, Kevin M; Lose, Edward J; Bebin, E Martina; Simmons, Shirley; Myers, John A; Barsh, Greg; Myers, Richard M; Cooper, Greg M; Pulley, Jill M; Rothstein, Mark A; Clayton, Ellen Wright.

Genet Med ; 19(3): 337-344, 2017 03.

Artículo en Inglés | MEDLINE | ID: mdl-27561086

6.

Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.

Miller, Marcus J; Burrage, Lindsay C; Gibson, James B; Strenk, Meghan E; Lose, Edward J; Bick, David P; Elsea, Sarah H; Sutton, V Reid; Sun, Qin; Graham, Brett H; Craigen, William J; Zhang, Victor Wei; Wong, Lee-Jun C.

Mol Genet Metab ; 116(3): 139-45, 2015 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-26385305

7.

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.

Reis, Linda M; Tyler, Rebecca C; Schilter, Kala F; Abdul-Rahman, Omar; Innis, Jeffrey W; Kozel, Beth A; Schneider, Adele S; Bardakjian, Tanya M; Lose, Edward J; Martin, Donna M; Broeckel, Ulrich; Semina, Elena V.

Hum Genet ; 130(4): 495-504, 2011 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-21340693

8.

Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.

Mikhail, Fady M; Lose, Edward J; Robin, Nathaniel H; Descartes, Maria D; Rutledge, Katherine D; Rutledge, S Lane; Korf, Bruce R; Carroll, Andrew J.

Am J Med Genet A ; 155A(10): 2386-96, 2011 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-22031302

9.

The Therapeutic Odyssey: Positioning Genomic Sequencing in the Search for a Child's Best Possible Life.

Childerhose, Janet Elizabeth; Rich, Carla; East, Kelly M; Kelley, Whitley V; Simmons, Shirley; Finnila, Candice R; Bowling, Kevin; Amaral, Michelle; Hiatt, Susan M; Thompson, Michelle; Gray, David E; Lawlor, James M J; Myers, Richard M; Barsh, Gregory S; Lose, Edward J; Bebin, Martina E; Cooper, Greg M; Brothers, Kyle Bertram.

AJOB Empir Bioeth ; 12(3): 179-189, 2021.

Artículo en Inglés | MEDLINE | ID: mdl-33843487

10.

AsktheGeneticist: five years of online experience.

Tesla, Catherine; Korf, Bruce R; Holt, Lynn; Prucka, Sandra; Robin, Nathaniel H; Descartes, Maria; Lose, Edward; Stembridge, Adrya; Epstein, Michael; Warren, Stephen.

Genet Med ; 11(4): 294-304, 2009 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-19282773

11.

Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication.

Burnside, Rachel D; Lose, Edward J; Domínguez, Maria G; Sánchez-Corona, Jose; Rivera, Horacio; Carroll, Andrew J; Mikhail, Fady M.

Am J Med Genet A ; 149A(7): 1516-22, 2009 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-19533774

12.

Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion).

Woodfin, Taylor; Stoops, Christine; Philips, Joseph B; Lose, Edward; Mikhail, Fady M; Hurst, Anna.

Mol Genet Genomic Med ; 7(8): e829, 2019 08.

Artículo en Inglés | MEDLINE | ID: mdl-31250568

13.

The use by Alabama pediatricians of genetics consultation in the evaluation of developmental delay.

Chen, Min-Jye; Holt, Cheryl L; Lose, Edward J; Robin, Nathaniel H.

Am J Med Genet A ; 146A(4): 421-5, 2008 Feb 15.

Artículo en Inglés | MEDLINE | ID: mdl-18203192

14.

The emerging role of primary care in genetics.

Lose, Edward J.

Curr Opin Pediatr ; 20(6): 634-8, 2008 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-19005331

15.

A case report of chromosome 17q22-qter trisomy with distinct clinical presentation and review of the literature.

Upadia, Jariya; Philips, Joseph B; Robin, Nathaniel H; Lose, Edward J; Mikhail, Fady M.

Clin Case Rep ; 6(4): 612-616, 2018 04.

Artículo en Inglés | MEDLINE | ID: mdl-29636925

16.

Genomic diagnosis for children with intellectual disability and/or developmental delay.

Bowling, Kevin M; Thompson, Michelle L; Amaral, Michelle D; Finnila, Candice R; Hiatt, Susan M; Engel, Krysta L; Cochran, J Nicholas; Brothers, Kyle B; East, Kelly M; Gray, David E; Kelley, Whitley V; Lamb, Neil E; Lose, Edward J; Rich, Carla A; Simmons, Shirley; Whittle, Jana S; Weaver, Benjamin T; Nesmith, Amy S; Myers, Richard M; Barsh, Gregory S; Bebin, E Martina; Cooper, Gregory M.

Genome Med ; 9(1): 43, 2017 05 30.

Artículo en Inglés | MEDLINE | ID: mdl-28554332

17.

Caring for adults with pediatric genetic diseases: a growing need.

Lose, Edward J; Robin, Nathaniel H.

Curr Opin Pediatr ; 19(6): 611-2, 2007 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-18025925

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