Pesquisa | Portal de Pesquisa da BVS

1.

SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.

Cordovado, Amélie; Schaettin, Martina; Jeanne, Médéric; Panasenkava, Veranika; Denommé-Pichon, Anne-Sophie; Keren, Boris; Mignot, Cyril; Doco-Fenzy, Martine; Rodan, Lance; Ramsey, Keri; Narayanan, Vinodh; Jones, Julie R; Prijoles, Eloise J; Mitchell, Wendy G; Ozmore, Jillian R; Juliette, Kali; Torti, Erin; Normand, Elizabeth A; Granger, Leslie; Petersen, Andrea K; Au, Margaret G; Matheny, Juliann P; Phornphutkul, Chanika; Chambers, Mary-Kathryn; Fernández-Ramos, Joaquín-Alejandro; López-Laso, Eduardo; Kruer, Michael C; Bakhtiari, Somayeh; Zollino, Marcella; Morleo, Manuela; Marangi, Giuseppe; Mei, Davide; Pisano, Tiziana; Guerrini, Renzo; Louie, Raymond J; Childers, Anna; Everman, David B; Isidor, Betrand; Audebert-Bellanger, Séverine; Odent, Sylvie; Bonneau, Dominique; Gilbert-Dussardier, Brigitte; Redon, Richard; Bézieau, Stéphane; Laumonnier, Frédéric; Stoeckli, Esther T; Toutain, Annick; Vuillaume, Marie-Laure.

Hum Mol Genet ; 31(19): 3325-3340, 2022 09 29.

Artigo em Inglês | MEDLINE | ID: mdl-35604360

2.

Partners in care.

Au, Margaret G.

Am J Med Genet A ; 185(9): 2630-2632, 2021 09.

Artigo em Inglês | MEDLINE | ID: mdl-33666328

3.

Evaluating co-created patient-facing materials to increase understanding of genetic test results.

Dwyer, Andrew A; Au, Margaret G; Smith, Neil; Plummer, Lacey; Lippincott, Margaret F; Balasubramanian, Ravikumar; Seminara, Stephanie B.

J Genet Couns ; 30(2): 598-605, 2021 04.

Artigo em Inglês | MEDLINE | ID: mdl-33098367

4.

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.

Flex, Elisabetta; Niceta, Marcello; Cecchetti, Serena; Thiffault, Isabelle; Au, Margaret G; Capuano, Alessandro; Piermarini, Emanuela; Ivanova, Anna A; Francis, Joshua W; Chillemi, Giovanni; Chandramouli, Balasubramanian; Carpentieri, Giovanna; Haaxma, Charlotte A; Ciolfi, Andrea; Pizzi, Simone; Douglas, Ganka V; Levine, Kara; Sferra, Antonella; Dentici, Maria Lisa; Pfundt, Rolph R; Le Pichon, Jean-Baptiste; Farrow, Emily; Baas, Frank; Piemonte, Fiorella; Dallapiccola, Bruno; Graham, John M; Saunders, Carol J; Bertini, Enrico; Kahn, Richard A; Koolen, David A; Tartaglia, Marco.

Am J Hum Genet ; 99(4): 962-973, 2016 Oct 06.

Artigo em Inglês | MEDLINE | ID: mdl-27666370

5.

An ancient founder mutation in PROKR2 impairs human reproduction.

Avbelj Stefanija, Magdalena; Jeanpierre, Marc; Sykiotis, Gerasimos P; Young, Jacques; Quinton, Richard; Abreu, Ana Paula; Plummer, Lacey; Au, Margaret G; Balasubramanian, Ravikumar; Dwyer, Andrew A; Florez, Jose C; Cheetham, Timothy; Pearce, Simon H; Purushothaman, Radhika; Schinzel, Albert; Pugeat, Michel; Jacobson-Dickman, Elka E; Ten, Svetlana; Latronico, Ana Claudia; Gusella, James F; Dode, Catherine; Crowley, William F; Pitteloud, Nelly.

Hum Mol Genet ; 21(19): 4314-24, 2012 Oct 01.

Artigo em Inglês | MEDLINE | ID: mdl-22773735

6.

Familial risk for chronic disease and intent to share family history with a health care provider among urban Appalachian women, southwestern Ohio, 2007.

Au, Margaret G; Cornett, Sandra J; Nick, Todd G; Wallace, Jody; Wang, Yu; Warren, Nancy S; Myers, Melanie F.

Prev Chronic Dis ; 7(1): A07, 2010 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-20040222

7.

Decisions to seek healthcare based on family health history among urban Appalachian women.

Cree, Robyn A; Lynch, John; Au, Margaret G; Myers, Melanie F.

J Genet Couns ; 18(6): 534-50, 2009 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-19813081

8.

Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy.

Otero, Maria G; Tiongson, Emmanuelle; Diaz, Frank; Haude, Katrina; Panzer, Karin; Collier, Ashley; Kim, Jaemin; Adams, David; Tifft, Cynthia J; Cui, Hong; Millian Zamora, Francisca; Au, Margaret G; Graham, John M; Buckley, David J; Lewis, Richard; Toro, Camilo; Bai, Renkui; Turner, Lesley; Mathews, Katherine D; Gahl, William; Pierson, Tyler Mark.

Ann Clin Transl Neurol ; 6(1): 154-160, 2019 01.

Artigo em Inglês | MEDLINE | ID: mdl-30656193

9.

FARS2 mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei.

Sahai, Supreet K; Steiner, Rebecca E; Au, Margaret G; Graham, John M; Salamon, Noriko; Ibba, Michael; Pierson, Tyler M.

Ann Clin Transl Neurol ; 5(9): 1128-1133, 2018 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-30250868

10.

Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications.

Lewkowitz-Shpuntoff, Hilana M; Hughes, Virginia A; Plummer, Lacey; Au, Margaret G; Doty, Richard L; Seminara, Stephanie B; Chan, Yee-Ming; Pitteloud, Nelly; Crowley, William F; Balasubramanian, Ravikumar.

J Clin Endocrinol Metab ; 97(1): E136-44, 2012 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-22072740

11.

When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).

Gianetti, Elena; Hall, Janet E; Au, Margaret G; Kaiser, Ursula B; Quinton, Richard; Stewart, Jane A; Metzger, Daniel L; Pitteloud, Nelly; Mericq, Veronica; Merino, Paulina M; Levitsky, Lynne L; Izatt, Louise; Lang-Muritano, Mariarosaria; Fujimoto, Victor Y; Dluhy, Robert G; Chase, Matthew L; Crowley, William F; Plummer, Lacey; Seminara, Stephanie B.

J Clin Endocrinol Metab ; 97(9): E1798-807, 2012 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-22745237

12.

Genetic counseling for isolated GnRH deficiency.

Au, Margaret G; Crowley, William F; Buck, Cassandra L.

Mol Cell Endocrinol ; 346(1-2): 102-9, 2011 Oct 22.

Artigo em Inglês | MEDLINE | ID: mdl-21664415

13.

The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations.

Martin, Cecilia; Balasubramanian, Ravikumar; Dwyer, Andrew A; Au, Margaret G; Sidis, Yisrael; Kaiser, Ursula B; Seminara, Stephanie B; Pitteloud, Nelly; Zhou, Qun-Yong; Crowley, William F.

Endocr Rev ; 32(2): 225-46, 2011 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-21037178

14.

Expanding the phenotype and genotype of female GnRH deficiency.

Shaw, Natalie D; Seminara, Stephanie B; Welt, Corrine K; Au, Margaret G; Plummer, Lacey; Hughes, Virginia A; Dwyer, Andrew A; Martin, Kathryn A; Quinton, Richard; Mericq, Veronica; Merino, Paulina M; Gusella, James F; Crowley, William F; Pitteloud, Nelly; Hall, Janet E.

J Clin Endocrinol Metab ; 96(3): E566-76, 2011 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-21209029

15.

TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood.

Gianetti, Elena; Tusset, Cintia; Noel, Sekoni D; Au, Margaret G; Dwyer, Andrew A; Hughes, Virginia A; Abreu, Ana Paula; Carroll, Jessica; Trarbach, Ericka; Silveira, Leticia F G; Costa, Elaine M F; de Mendonça, Berenice Bilharinho; de Castro, Margaret; Lofrano, Adriana; Hall, Janet E; Bolu, Erol; Ozata, Metin; Quinton, Richard; Amory, John K; Stewart, Susan E; Arlt, Wiebke; Cole, Trevor R; Crowley, William F; Kaiser, Ursula B; Latronico, Ana Claudia; Seminara, Stephanie B.

J Clin Endocrinol Metab ; 95(6): 2857-67, 2010 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-20332248

16.

A family history demonstration project among women in an urban Appalachian community.

Wallace, Jody P; Baugh, Carol; Cornett, Sandra; Hood, Bonnie; Prows, Cynthia A; Ryan, Norma; Warren, Nancy Steinberg; Au, Margaret G; Brown, M Kathryn; Glandorf, Kathy; Jarrell, Judy L; Nolan, Timothy L; Sorrell, Jeff; Walters, Jennifer; Myers, Melanie F.

Prog Community Health Partnersh ; 3(2): 155-63, 2009.

Artigo em Inglês | MEDLINE | ID: mdl-20208263

Portal de Pesquisa da BVS

Informação e Conhecimento para a Saúde

Configurar filtros

Sua seleção (0)

Formato de exportação:

Exportar: