Pesquisa | Portal de Pesquisa da BVS Enfermagem

1.

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.

Kaur, Maninder; Blair, Justin; Devkota, Batsal; Fortunato, Sierra; Clark, Dinah; Lawrence, Audrey; Kim, Jiwoo; Do, Wonwook; Semeo, Benjamin; Katz, Olivia; Mehta, Devanshi; Yamamoto, Nobuko; Schindler, Emma; Al Rawi, Zayd; Wallace, Nina; Wilde, Jonathan J; McCallum, Jennifer; Liu, Jinglan; Xu, Dongbin; Jackson, Marie; Rentas, Stefan; Tayoun, Ahmad Abou; Zhe, Zhang; Abdul-Rahman, Omar; Allen, Bill; Angula, Moris A; Anyane-Yeboa, Kwame; Argente, Jesús; Arn, Pamela H; Armstrong, Linlea; Basel-Salmon, Lina; Baynam, Gareth; Bird, Lynne M; Bruegger, Daniel; Ch'ng, Gaik-Siew; Chitayat, David; Clark, Robin; Cox, Gerald F; Dave, Usha; DeBaere, Elfrede; Field, Michael; Graham, John M; Gripp, Karen W; Greenstein, Robert; Gupta, Neerja; Heidenreich, Randy; Hoffman, Jodi; Hopkin, Robert J; Jones, Kenneth L; Jones, Marilyn C.

Am J Med Genet A ; 191(8): 2113-2131, 2023 08.

Artigo em Inglês | MEDLINE | ID: mdl-37377026

2.

Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome.

Knapp, Karen M; Sullivan, Rosie; Murray, Jennie; Gimenez, Gregory; Arn, Pamela; D'Souza, Precilla; Gezdirici, Alper; Wilson, William G; Jackson, Andrew P; Ferreira, Carlos; Bicknell, Louise S.

J Med Genet ; 57(3): 195-202, 2020 03.

Artigo em Inglês | MEDLINE | ID: mdl-31784481

3.

Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Kishnani, Priya S; Goldstein, Jennifer; Austin, Stephanie L; Arn, Pamela; Bachrach, Bert; Bali, Deeksha S; Chung, Wendy K; El-Gharbawy, Areeg; Brown, Laurie M; Kahler, Stephen; Pendyal, Surekha; Ross, Katalin M; Tsilianidis, Laurie; Weinstein, David A; Watson, Michael S.

Genet Med ; 21(4): 772-789, 2019 04.

Artigo em Inglês | MEDLINE | ID: mdl-30659246

4.

Airway-related symptoms and surgeries in patients with mucopolysaccharidosis I.

Arn, Pamela; Bruce, Iain A; Wraith, James E; Travers, Helen; Fallet, Shari.

Ann Otol Rhinol Laryngol ; 124(3): 198-205, 2015 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-25214650

5.

The natural history of MPS I: global perspectives from the MPS I Registry.

Beck, Michael; Arn, Pamela; Giugliani, Roberto; Muenzer, Joseph; Okuyama, Torayuki; Taylor, John; Fallet, Shari.

Genet Med ; 16(10): 759-65, 2014 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-24675674

6.

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.

Kishnani, Priya S; Austin, Stephanie L; Abdenur, Jose E; Arn, Pamela; Bali, Deeksha S; Boney, Anne; Chung, Wendy K; Dagli, Aditi I; Dale, David; Koeberl, Dwight; Somers, Michael J; Wechsler, Stephanie Burns; Weinstein, David A; Wolfsdorf, Joseph I; Watson, Michael S.

Genet Med ; 16(11): e1, 2014 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-25356975

7.

Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry.

D'Aco, Kristin; Underhill, Lisa; Rangachari, Lakshmi; Arn, Pamela; Cox, Gerald F; Giugliani, Roberto; Okuyama, Torayuki; Wijburg, Frits; Kaplan, Paige.

Eur J Pediatr ; 171(6): 911-9, 2012 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-22234477

8.

Glycogen storage disease type III diagnosis and management guidelines.

Kishnani, Priya S; Austin, Stephanie L; Arn, Pamela; Bali, Deeksha S; Boney, Anne; Case, Laura E; Chung, Wendy K; Desai, Dev M; El-Gharbawy, Areeg; Haller, Ronald; Smit, G Peter A; Smith, Alastair D; Hobson-Webb, Lisa D; Wechsler, Stephanie Burns; Weinstein, David A; Watson, Michael S.

Genet Med ; 12(7): 446-63, 2010 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-20631546

9.

Characterization of surgical procedures in patients with mucopolysaccharidosis type I: findings from the MPS I Registry.

Arn, Pamela; Wraith, J Edmond; Underhill, Lisa.

J Pediatr ; 154(6): 859-64.e3, 2009 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-19217123

10.

Education format and resource preferences among registrants of a pediatric-focused CME website.

Olivieri, Jason J; Knoll, Melissa B; Arn, Pamela H.

Med Teach ; 31(8): e333-7, 2009 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-19811195

11.

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

Messiaen, Ludwine; Yao, Suxia; Brems, Hilde; Callens, Tom; Sathienkijkanchai, Achara; Denayer, Ellen; Spencer, Emily; Arn, Pamela; Babovic-Vuksanovic, Dusica; Bay, Carolyn; Bobele, Gary; Cohen, Bruce H; Escobar, Luis; Eunpu, Deborah; Grebe, Theresa; Greenstein, Robert; Hachen, Rachel; Irons, Mira; Kronn, David; Lemire, Edmond; Leppig, Kathleen; Lim, Cynthia; McDonald, Marie; Narayanan, Vinodh; Pearn, Amy; Pedersen, Robert; Powell, Berkley; Shapiro, Lawrence R; Skidmore, David; Tegay, David; Thiese, Heidi; Zackai, Elaine H; Vijzelaar, Raymon; Taniguchi, Koji; Ayada, Toranoshin; Okamoto, Fuyuki; Yoshimura, Akihiko; Parret, Annabel; Korf, Bruce; Legius, Eric.

JAMA ; 302(19): 2111-8, 2009 Nov 18.

Artigo em Inglês | MEDLINE | ID: mdl-19920235

12.

Phenotypic variability in deficiency of the α subunit of succinate-CoA ligase.

Demirbas, Didem; Harris, David J; Arn, Pamela H; Huang, Xiaoping; Waisbren, Susan E; Anselm, Irina; Lerner-Ellis, Jordan P; Wong, Lee-Jun; Levy, Harvey L; Berry, Gerard T.

JIMD Rep ; 46(1): 63-69, 2019 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-31240156

13.

TANGO2 Mutation: A Genetic Cause of Multifocal Combined Dystonia.

Frey, Jessica; Burns, Matthew R; Chiu, Shannon Y; Wagle Shukla, Aparna; El Kouzi, Ahmad; Jackson, Jessica; Arn, Pamela H; Malaty, Irene A.

Mov Disord Clin Pract ; 9(3): 380-382, 2022 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-35402644

14.

Key Considerations for Selecting a Genomic Decision Support Platform for Implementing Pharmacogenomics.

Cook, Kelsey J; Duong, Benjamin Q; Seligson, Nathan D; Arn, Pamela; Funanage, Vicky L; Gripp, Karen W; Kirwin, Susan M; Lawless, Stephen T; Lee, Mary M; Robbins, Katherine M; West, David; Blake, Kathryn V.

Clin Pharmacol Ther ; 110(3): 555-558, 2021 09.

Artigo em Inglês | MEDLINE | ID: mdl-34254671

15.

Recessive mutations in PCBD1 cause a new type of early-onset diabetes.

Simaite, Deimante; Kofent, Julia; Gong, Maolian; Rüschendorf, Franz; Jia, Shiqi; Arn, Pamela; Bentler, Kristi; Ellaway, Carolyn; Kühnen, Peter; Hoffmann, Georg F; Blau, Nenad; Spagnoli, Francesca M; Hübner, Norbert; Raile, Klemens.

Diabetes ; 63(10): 3557-64, 2014 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-24848070

16.

High rate of postoperative mortality in patients with mucopolysaccharidosis I: findings from the MPS I Registry.

Arn, Pamela; Whitley, Chester; Wraith, J Edmond; Webb, H Warner; Underhill, Lisa; Rangachari, Lakshmi; Cox, Gerald F.

J Pediatr Surg ; 47(3): 477-84, 2012 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-22424341

17.

Mutations in the TGF-ß repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.

Doyle, Alexander J; Doyle, Jefferson J; Bessling, Seneca L; Maragh, Samantha; Lindsay, Mark E; Schepers, Dorien; Gillis, Elisabeth; Mortier, Geert; Homfray, Tessa; Sauls, Kimberly; Norris, Russell A; Huso, Nicholas D; Leahy, Dan; Mohr, David W; Caulfield, Mark J; Scott, Alan F; Destrée, Anne; Hennekam, Raoul C; Arn, Pamela H; Curry, Cynthia J; Van Laer, Lut; McCallion, Andrew S; Loeys, Bart L; Dietz, Harry C.

Nat Genet ; 44(11): 1249-54, 2012 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-23023332

18.

Newborn screening: current status.

Arn, Pamela H.

Health Aff (Millwood) ; 26(2): 559-66, 2007.

Artigo em Inglês | MEDLINE | ID: mdl-17339686

19.

The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I.

Pastores, Gregory M; Arn, Pamela; Beck, Michael; Clarke, Joe T R; Guffon, Nathalie; Kaplan, Paige; Muenzer, Joseph; Norato, Denise Y J; Shapiro, Elsa; Thomas, Janet; Viskochil, David; Wraith, J Edmond.

Mol Genet Metab ; 91(1): 37-47, 2007 May.

Artigo em Inglês | MEDLINE | ID: mdl-17336562

20.

Spectrum of phenotypic manifestations from a single point mutation of the p63 gene, including new cutaneous and immunologic findings.

Steele, Jennifer A; Hansen, Heather; Arn, Pamela; Kwong, Pearl C.

Pediatr Dermatol ; 22(5): 415-9, 2005.

Artigo em Inglês | MEDLINE | ID: mdl-16190990

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