Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

A dyadic approach to the delineation of diagnostic entities in clinical genomics.

Biesecker, Leslie G; Adam, Margaret P; Alkuraya, Fowzan S; Amemiya, Anne R; Bamshad, Michael J; Beck, Anita E; Bennett, James T; Bird, Lynne M; Carey, John C; Chung, Brian; Clark, Robin D; Cox, Timothy C; Curry, Cynthia; Dinulos, Mary Beth Palko; Dobyns, William B; Giampietro, Philip F; Girisha, Katta M; Glass, Ian A; Graham, John M; Gripp, Karen W; Haldeman-Englert, Chad R; Hall, Bryan D; Innes, A Micheil; Kalish, Jennifer M; Keppler-Noreuil, Kim M; Kosaki, Kenjiro; Kozel, Beth A; Mirzaa, Ghayda M; Mulvihill, John J; Nowaczyk, Malgorzata J M; Pagon, Roberta A; Retterer, Kyle; Rope, Alan F; Sanchez-Lara, Pedro A; Seaver, Laurie H; Shieh, Joseph T; Slavotinek, Anne M; Sobering, Andrew K; Stevens, Cathy A; Stevenson, David A; Tan, Tiong Yang; Tan, Wen-Hann; Tsai, Anne C; Weaver, David D; Williams, Marc S; Zackai, Elaine; Zarate, Yuri A.

Am J Hum Genet ; 108(1): 8-15, 2021 01 07.

Artigo em Inglês | MEDLINE | ID: mdl-33417889

2.

Response to Hamosh et al.

Biesecker, Leslie G; Adam, Margaret P; Alkuraya, Fowzan S; Amemiya, Anne R; Bamshad, Michael J; Beck, Anita E; Bennett, James T; Bird, Lynne M; Carey, John C; Chung, Brian; Clark, Robin D; Cox, Timothy C; Curry, Cynthia; Dinulos, Mary Beth Palko; Dobyns, William B; Giampietro, Philip F; Girisha, Katta M; Glass, Ian A; Graham, John M; Gripp, Karen W; Haldeman-Englert, Chad R; Hall, Bryan D; Innes, A Micheil; Kalish, Jennifer M; Keppler-Noreuil, Kim M; Kosaki, Kenjiro; Kozel, Beth A; Mirzaa, Ghayda M; Mulvihill, John J; Nowaczyk, Malgorzata J M; Pagon, Roberta A; Retterer, Kyle; Rope, Alan F; Sanchez-Lara, Pedro A; Seaver, Laurie H; Shieh, Joseph T; Slavotinek, Anne M; Sobering, Andrew K; Stevens, Cathy A; Stevenson, David A; Tan, Tiong Yang; Tan, Wen-Hann; Tsai, Anne C; Weaver, David D; Williams, Marc S; Zackai, Elaine; Zarate, Yuri A.

Am J Hum Genet ; 108(9): 1809-1810, 2021 09 02.

Artigo em Inglês | MEDLINE | ID: mdl-34478656

3.

Ambiguous genitalia: what prenatal genetic testing is practical?

Adam, Margaret P; Fechner, Patricia Y; Ramsdell, Linda A; Badaru, Angela; Grady, Richard E; Pagon, Roberta A; McCauley, Elizabeth; Cheng, Edith Y; Parisi, Melissa A; Shnorhavorian, Margarett.

Am J Med Genet A ; 158A(6): 1337-43, 2012 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-22581420

4.

Implementation outcomes of a multiinstitutional web-based ethical, legal, and social implications genetics curriculum for primary care residents in three specialties.

Srinivasan, Malathi; Day, Frank C; Griffin, Erin; Tancredi, Daniel J; Burke, Wylie; Pinsky, Linda; Pagon, Roberta A; Hoffman, Jerome R; Wilkes, Michael S.

Genet Med ; 13(6): 553-62, 2011 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-21543989

5.

Genome-wide association studies, field synopses, and the development of the knowledge base on genetic variation and human diseases.

Khoury, Muin J; Bertram, Lars; Boffetta, Paolo; Butterworth, Adam S; Chanock, Stephen J; Dolan, Siobhan M; Fortier, Isabel; Garcia-Closas, Montserrat; Gwinn, Marta; Higgins, Julian P T; Janssens, A Cecile J W; Ostell, James; Owen, Ryan P; Pagon, Roberta A; Rebbeck, Timothy R; Rothman, Nathaniel; Bernstein, Jonine L; Burton, Paul R; Campbell, Harry; Chockalingam, Anand; Furberg, Helena; Little, Julian; O'Brien, Thomas R; Seminara, Daniela; Vineis, Paolo; Winn, Deborah M; Yu, Wei; Ioannidis, John P A.

Am J Epidemiol ; 170(3): 269-79, 2009 Aug 01.

Artigo em Inglês | MEDLINE | ID: mdl-19498075

6.

Clinician perspectives about molecular genetic testing for heritable conditions and development of a clinician-friendly laboratory report.

Lubin, Ira M; McGovern, Margaret M; Gibson, Zoe; Gross, Susan J; Lyon, Elaine; Pagon, Roberta A; Pratt, Victoria M; Rashid, Jamila; Shaw, Colleen; Stoddard, Lander; Trotter, Tracy L; Williams, Marc S; Amos Wilson, Jean; Pass, Kenneth.

J Mol Diagn ; 11(2): 162-71, 2009 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-19197001

7.

Ordering molecular genetic tests and reporting results: practices in laboratory and clinical settings.

Lubin, Ira M; Caggana, Michele; Constantin, Carolyn; Gross, Susan J; Lyon, Elaine; Pagon, Roberta A; Trotter, Tracy L; Wilson, Jean Amos; McGovern, Margaret M.

J Mol Diagn ; 10(5): 459-68, 2008 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-18669879

8.

A model program to increase translation of rare disease genetic tests: collaboration, education, and test translation program.

Faucett, William Andrew; Hart, Suzanne; Pagon, Roberta A; Neall, Lisa Forman; Spinella, Giovanna.

Genet Med ; 10(5): 343-8, 2008 May.

Artigo em Inglês | MEDLINE | ID: mdl-18496033

9.

GeneTests: an online genetic information resource for health care providers.

Pagon, Roberta A.

J Med Libr Assoc ; 94(3): 343-8, 2006 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-16888670

10.

Genetic testing for disease susceptibilities: consequences for genetic counseling.

Pagon, Roberta A.

Trends Mol Med ; 8(6): 306-7, 2002 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-12067618

11.

GeneTests-GeneClinics: genetic testing information for a growing audience.

Pagon, Roberta A; Tarczy-Hornoch, Peter; Baskin, Patricia K; Edwards, Joseph E; Covington, Maxine L; Espeseth, Miriam; Beahler, Christine; Bird, Thomas D; Popovich, Bradley; Nesbitt, Charli; Dolan, Cynthia; Marymee, Kathi; Hanson, Nancy B; Neufeld-Kaiser, Whitney; Grohs, Gina McCullough; Kicklighter, Tracy; Abair, Cynthia; Malmin, Audin; Barclay, Matthew; Palepu, Rajasri Dharani.

Hum Mutat ; 19(5): 501-9, 2002 May.

Artigo em Inglês | MEDLINE | ID: mdl-11968082

12.

Micropenis with testicular regression, low LH levels, and poor androgen and HCG responses: a distinct syndrome?

Parisi, Melissa A; Kletter, Gad B; Grady, Richard; Mitchell, Michael; Ramsdell, Linda A; Pagon, Roberta A.

Am J Med Genet ; 109(4): 271-7, 2002 May 15.

Artigo em Inglês | MEDLINE | ID: mdl-11992480

13.

Molecular genetic testing for inherited disorders.

Pagon, Roberta A.

Expert Rev Mol Diagn ; 4(2): 135-40, 2004 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-14995901

14.

Partial ATRX gene duplication causes ATR-X syndrome.

Cohn, Dianne M; Pagon, Roberta A; Hudgins, Louanne; Schwartz, Charles E; Stevenson, Roger E; Friez, Michael J.

Am J Med Genet A ; 149A(10): 2317-20, 2009 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-19764021

15.

Internet resources in medical genetics.

Waggoner, Darrel J; Pagon, Roberta A.

Curr Protoc Hum Genet ; Chapter 9: Unit 9.12, 2009 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-19582767

16.

A Gender Assessment Team: experience with 250 patients over a period of 25 years.

Parisi, Melissa A; Ramsdell, Linda A; Burns, Mark W; Carr, Michael C; Grady, Richard E; Gunther, Daniel F; Kletter, Gadi B; McCauley, Elizabeth; Mitchell, Michael E; Opheim, Kent E; Pihoker, Catherine; Richards, Gail E; Soules, Michael R; Pagon, Roberta A.

Genet Med ; 9(6): 348-57, 2007 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-17575501

17.

Internet resources in Medical Genetics.

Pagon, Roberta A.

Curr Protoc Hum Genet ; Chapter 9: Unit 9.12, 2006 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-18428398

18.

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

Johnston, Jennifer J; Olivos-Glander, Isabelle; Killoran, Christina; Elson, Emma; Turner, Joyce T; Peters, Kathryn F; Abbott, Margaret H; Aughton, David J; Aylsworth, Arthur S; Bamshad, Michael J; Booth, Carol; Curry, Cynthia J; David, Albert; Dinulos, Mary Beth; Flannery, David B; Fox, Michelle A; Graham, John M; Grange, Dorothy K; Guttmacher, Alan E; Hannibal, Mark C; Henn, Wolfram; Hennekam, Raoul C M; Holmes, Lewis B; Hoyme, H Eugene; Leppig, Kathleen A; Lin, Angela E; Macleod, Patrick; Manchester, David K; Marcelis, Carlo; Mazzanti, Laura; McCann, Emma; McDonald, Marie T; Mendelsohn, Nancy J; Moeschler, John B; Moghaddam, Billur; Neri, Giovanni; Newbury-Ecob, Ruth; Pagon, Roberta A; Phillips, John A; Sadler, Laurie S; Stoler, Joan M; Tilstra, David; Walsh Vockley, Catherine M; Zackai, Elaine H; Zadeh, Touran M; Brueton, Louise; Black, Graeme Charles M; Biesecker, Leslie G.

Am J Hum Genet ; 76(4): 609-22, 2005 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-15739154

19.

Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia.

Sock, Elisabeth; Pagon, Roberta A; Keymolen, Kathelijn; Lissens, Willy; Wegner, Michael; Scherer, Gerd.

Hum Mol Genet ; 12(12): 1439-47, 2003 Jun 15.

Artigo em Inglês | MEDLINE | ID: mdl-12783851

20.

2006 ASHG Award for Excellence in Human Genetics Education. GeneTests: Integrating genetic services into patient care.

Pagon, Roberta A.

Am J Hum Genet ; 81(4): 658-9, 2007 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-20529615

BVS Doenças Infecciosas e Parasitárias

Informação e Conhecimento para a Saúde

Configurar filtros

Sua seleção (0)

Formato de exportação:

Exportar:

A dyadic approach to the delineation of diagnostic entities in clinical genomics.

Response to Hamosh et al.

Ambiguous genitalia: what prenatal genetic testing is practical?

Implementation outcomes of a multiinstitutional web-based ethical, legal, and social implications genetics curriculum for primary care residents in three specialties.

Genome-wide association studies, field synopses, and the development of the knowledge base on genetic variation and human diseases.

Clinician perspectives about molecular genetic testing for heritable conditions and development of a clinician-friendly laboratory report.

Ordering molecular genetic tests and reporting results: practices in laboratory and clinical settings.

A model program to increase translation of rare disease genetic tests: collaboration, education, and test translation program.

GeneTests: an online genetic information resource for health care providers.

Genetic testing for disease susceptibilities: consequences for genetic counseling.

GeneTests-GeneClinics: genetic testing information for a growing audience.

Micropenis with testicular regression, low LH levels, and poor androgen and HCG responses: a distinct syndrome?

Molecular genetic testing for inherited disorders.

Partial ATRX gene duplication causes ATR-X syndrome.

Internet resources in medical genetics.

A Gender Assessment Team: experience with 250 patients over a period of 25 years.

Internet resources in Medical Genetics.

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia.

2006 ASHG Award for Excellence in Human Genetics Education. GeneTests: Integrating genetic services into patient care.