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1.

The National Institutes of Health INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE (INCLUDE) Project: Accelerating research discoveries for people with Down syndrome across the lifespan.

Bardhan, Sujata; Li, Huiqing; Tarver, Erika; Schramm, Charlene; Brown, Marishka; Garcia, Linda; Schwartz, Bryanna; Mazzucco, Anna; Natarajan, Nikila; Walsh, Elizabeth; Ryan, Laurie; Pearson, Gail; Parisi, Melissa A.

Am J Med Genet C Semin Med Genet; 196(1): e32081, 2024 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-38197535

2.

Gene-targeted therapies: Overview and implications.

Brooks, P J; Urv, Tiina K; Parisi, Melissa A.

Am J Med Genet C Semin Med Genet; 193(1): 13-18, 2023 03.

Artículo en Inglés | MEDLINE | ID: mdl-36864710

3.

When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective.

Parisi, Melissa A; Caggana, Michele; Cohen, Jennifer L; Gold, Nina B; Morris, Jill A; Orsini, Joseph J; Urv, Tiina K; Wasserstein, Melissa P.

Am J Med Genet C Semin Med Genet; 193(1): 44-55, 2023 03.

Artículo en Inglés | MEDLINE | ID: mdl-36876995

4.

Are we prepared to deliver gene-targeted therapies for rare diseases?

Yu, Timothy W; Kingsmore, Stephen F; Green, Robert C; MacKenzie, Tippi; Wasserstein, Melissa; Caggana, Michele; Gold, Nina B; Kennedy, Annie; Kishnani, Priya S; Might, Matthew; Brooks, Phillip J; Morris, Jill A; Parisi, Melissa A; Urv, Tiina K.

Am J Med Genet C Semin Med Genet; 193(1): 7-12, 2023 03.

Artículo en Inglés | MEDLINE | ID: mdl-36691939

5.

Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics.

Minear, Mollie A; Phillips, Megan N; Kau, Alice; Parisi, Melissa A.

Am J Med Genet C Semin Med Genet; 190(2): 138-152, 2022 06.

Artículo en Inglés | MEDLINE | ID: mdl-36102292

6.

Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis.

Forsyth, RaeLynn; Parisi, Melissa A; Altintas, Burak; Malicdan, May Christine; Vilboux, Thierry; Knoll, Jasmine; Brooks, Brian P; Zein, Wadih M; Gahl, William A; Toro, Camilo; Gunay-Aygun, Meral.

Am J Med Genet C Semin Med Genet; 190(1): 121-130, 2022 03.

Artículo en Inglés | MEDLINE | ID: mdl-35312150

7.

Growth in Joubert syndrome: Growth curves and physical measurements with correlation to genotype and hepatorenal disease in 170 individuals.

Knoll, Jasmine; Altintas, Burak; Gahl, William A; Parisi, Melissa; Gunay-Aygun, Meral.

Am J Med Genet A; 188(3): 847-857, 2022 03.

Artículo en Inglés | MEDLINE | ID: mdl-34951506

8.

Healthcare recommendations for Joubert syndrome.

Bachmann-Gagescu, Ruxandra; Dempsey, Jennifer C; Bulgheroni, Sara; Chen, Maida L; D'Arrigo, Stefano; Glass, Ian A; Heller, Theo; Héon, Elise; Hildebrandt, Friedhelm; Joshi, Nirmal; Knutzen, Dana; Kroes, Hester Y; Mack, Stephen H; Nuovo, Sara; Parisi, Melissa A; Snow, Joseph; Summers, Angela C; Symons, Jordan M; Zein, Wadih M; Boltshauser, Eugen; Sayer, John A; Gunay-Aygun, Meral; Valente, Enza Maria; Doherty, Dan.

Am J Med Genet A; 182(1): 229-249, 2020 01.

Artículo en Inglés | MEDLINE | ID: mdl-31710777

9.

Note from the editors.

Urv, Tiina K; Parisi, Melissa A.

Am J Med Genet C Semin Med Genet; 193(1): 5-6, 2023 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-36960570

10.

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.

Brooks, Brian P; Zein, Wadih M; Thompson, Amy H; Mokhtarzadeh, Maryam; Doherty, Daniel A; Parisi, Melissa; Glass, Ian A; Malicdan, May C; Vilboux, Thierry; Vemulapalli, Meghana; Mullikin, James C; Gahl, William A; Gunay-Aygun, Meral.

Ophthalmology; 125(12): 1937-1952, 2018 12.

Artículo en Inglés | MEDLINE | ID: mdl-30055837

11.

Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center.

Strongin, Anna; Heller, Theo; Doherty, Dan; Glass, Ian A; Parisi, Melissa A; Bryant, Joy; Choyke, Peter; Turkbey, Baris; Daryanani, Kailash; Yildirimli, Deniz; Vemulapalli, Meghana; Mullikin, Jim C; Malicdan, May C; Vilboux, Thierry; Gahl, William A; Gunay-Aygun, Meral.

J Pediatr Gastroenterol Nutr; 66(3): 428-435, 2018 03.

Artículo en Inglés | MEDLINE | ID: mdl-29112083

12.

Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause.

Poretti, Andrea; Snow, Joseph; Summers, Angela C; Tekes, Aylin; Huisman, Thierry A G M; Aygun, Nafi; Carson, Kathryn A; Doherty, Dan; Parisi, Melissa A; Toro, Camilo; Yildirimli, Deniz; Vemulapalli, Meghana; Mullikin, Jim C; Cullinane, Andrew R; Vilboux, Thierry; Gahl, William A; Gunay-Aygun, Meral.

J Med Genet; 54(8): 521-529, 2017 08.

Artículo en Inglés | MEDLINE | ID: mdl-28087721

13.

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.

Vilboux, Thierry; Doherty, Daniel A; Glass, Ian A; Parisi, Melissa A; Phelps, Ian G; Cullinane, Andrew R; Zein, Wadih; Brooks, Brian P; Heller, Theo; Soldatos, Ariane; Oden, Neal L; Yildirimli, Deniz; Vemulapalli, Meghana; Mullikin, James C; Malicdan, May Christine V; Gahl, William A; Gunay-Aygun, Meral.

Genet Med; 19(8): 875-882, 2017 08.

Artículo en Inglés | MEDLINE | ID: mdl-28125082

14.

Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.

Summers, Angela C; Snow, Joseph; Wiggs, Edythe; Liu, Alexander G; Toro, Camilo; Poretti, Andrea; Zein, Wadih M; Brooks, Brian P; Parisi, Melissa A; Inati, Sara; Doherty, Dan; Vemulapalli, Meghana; Mullikin, Jim C; Vilboux, Thierry; Gahl, William A; Gunay-Aygun, Meral.

Am J Med Genet A; 173(7): 1796-1812, 2017 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-28497568

15.

MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

Slaats, Gisela G; Isabella, Christine R; Kroes, Hester Y; Dempsey, Jennifer C; Gremmels, Hendrik; Monroe, Glen R; Phelps, Ian G; Duran, Karen J; Adkins, Jonathan; Kumar, Sairam A; Knutzen, Dana M; Knoers, Nine V; Mendelsohn, Nancy J; Neubauer, David; Mastroyianni, Sotiria D; Vogt, Julie; Worgan, Lisa; Karp, Natalya; Bowdin, Sarah; Glass, Ian A; Parisi, Melissa A; Otto, Edgar A; Johnson, Colin A; Hildebrandt, Friedhelm; van Haaften, Gijs; Giles, Rachel H; Doherty, Dan.

J Med Genet; 53(1): 62-72, 2016 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-26490104

16.

Newborn Screening: Beyond the Spot.

Urv, Tiina K; Parisi, Melissa A.

Adv Exp Med Biol; 1031: 323-346, 2017.

Artículo en Inglés | MEDLINE | ID: mdl-29214581

17.

Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions.

Shapiro, Elsa; Bernstein, Jessica; Adams, Heather R; Barbier, Ann J; Buracchio, Teresa; Como, Peter; Delaney, Kathleen A; Eichler, Florian; Goldsmith, Jonathan C; Hogan, Melissa; Kovacs, Sarrit; Mink, Jonathan W; Odenkirchen, Joanne; Parisi, Melissa A; Skrinar, Alison; Waisbren, Susan E; Mulberg, Andrew E.

Mol Genet Metab; 118(2): 65-9, 2016 06.

Artículo en Inglés | MEDLINE | ID: mdl-27132782

18.

Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.

Camp, Kathryn M; Krotoski, Danuta; Parisi, Melissa A; Gwinn, Katrina A; Cohen, Bruce H; Cox, Christine S; Enns, Gregory M; Falk, Marni J; Goldstein, Amy C; Gopal-Srivastava, Rashmi; Gorman, Gráinne S; Hersh, Stephen P; Hirano, Michio; Hoffman, Freddie Ann; Karaa, Amel; MacLeod, Erin L; McFarland, Robert; Mohan, Charles; Mulberg, Andrew E; Odenkirchen, Joanne C; Parikh, Sumit; Rutherford, Patricia J; Suggs-Anderson, Shawne K; Tang, W H Wilson; Vockley, Jerry; Wolfe, Lynne A; Yannicelli, Steven; Yeske, Philip E; Coates, Paul M.

Mol Genet Metab; 119(3): 187-206, 2016 11.

Artículo en Inglés | MEDLINE | ID: mdl-27665271

19.

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.

Arts, Heleen H; Doherty, Dan; van Beersum, Sylvia E C; Parisi, Melissa A; Letteboer, Stef J F; Gorden, Nicholas T; Peters, Theo A; Märker, Tina; Voesenek, Krysta; Kartono, Aileen; Ozyurek, Hamit; Farin, Federico M; Kroes, Hester Y; Wolfrum, Uwe; Brunner, Han G; Cremers, Frans P M; Glass, Ian A; Knoers, Nine V A M; Roepman, Ronald.

Nat Genet; 39(7): 882-8, 2007 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-17558407

20.

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.

Sayer, John A; Otto, Edgar A; O'Toole, John F; Nurnberg, Gudrun; Kennedy, Michael A; Becker, Christian; Hennies, Hans Christian; Helou, Juliana; Attanasio, Massimo; Fausett, Blake V; Utsch, Boris; Khanna, Hemant; Liu, Yan; Drummond, Iain; Kawakami, Isao; Kusakabe, Takehiro; Tsuda, Motoyuki; Ma, Li; Lee, Hwankyu; Larson, Ronald G; Allen, Susan J; Wilkinson, Christopher J; Nigg, Erich A; Shou, Chengchao; Lillo, Concepcion; Williams, David S; Hoppe, Bernd; Kemper, Markus J; Neuhaus, Thomas; Parisi, Melissa A; Glass, Ian A; Petry, Marianne; Kispert, Andreas; Gloy, Joachim; Ganner, Athina; Walz, Gerd; Zhu, Xueliang; Goldman, Daniel; Nurnberg, Peter; Swaroop, Anand; Leroux, Michel R; Hildebrandt, Friedhelm.

Nat Genet; 38(6): 674-81, 2006 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-16682973

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