Búsqueda | Biblioteca Virtual en Salud Odontología. Uruguay

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.

Artículo en Inglés | MEDLINE | ID: mdl-37377026

2.

Mechanical resilience and cementitious processes in Imperial Roman architectural mortar.

Jackson, Marie D; Landis, Eric N; Brune, Philip F; Vitti, Massimo; Chen, Heng; Li, Qinfei; Kunz, Martin; Wenk, Hans-Rudolf; Monteiro, Paulo J M; Ingraffea, Anthony R.

Proc Natl Acad Sci U S A ; 111(52): 18484-9, 2014 Dec 30.

Artículo en Inglés | MEDLINE | ID: mdl-25512521

3.

Authigenic mineralization in Surtsey basaltic tuff deposits at 50 years after eruption.

Montesano, Giovanna; Rispoli, Concetta; Petrosino, Paola; Jackson, Marie D; Weisenberger, Tobias B; Gudmundsson, Magnús T; Cappelletti, Piergiulio.

Sci Rep ; 13(1): 22855, 2023 Dec 21.

Artículo en Inglés | MEDLINE | ID: mdl-38129450

4.

Novel clinical manifestations in Pallister-Killian syndrome: comprehensive evaluation of 59 affected individuals and review of previously reported cases.

Wilkens, Alisha; Liu, Hongbin; Park, Kristen; Campbell, Lindsey B; Jackson, Marie; Kostanecka, Anna; Pipan, Mary; Izumi, Kosuke; Pallister, Phillip; Krantz, Ian D.

Am J Med Genet A ; 158A(12): 3002-17, 2012 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-23169767

5.

Basalt-Hosted Microbial Communities in the Subsurface of the Young Volcanic Island of Surtsey, Iceland.

Bergsten, Pauline; Vannier, Pauline; Klonowski, Alexandra María; Knobloch, Stephen; Gudmundsson, Magnús Tumi; Jackson, Marie Dolores; Marteinsson, Viggó Thor.

Front Microbiol ; 12: 728977, 2021.

Artículo en Inglés | MEDLINE | ID: mdl-34659155

6.

Good Financial Practice and Clinical Research Coordinator Responsibilities.

Jackson, Marie.

Semin Oncol Nurs ; 36(2): 150999, 2020 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-32253048

7.

Discovery of a new biomarker for the mucopolysaccharidoses (MPS), dipeptidyl peptidase IV (DPP-IV; CD26), by SELDI-TOF mass spectrometry.

Beesley, Clare E; Young, Elisabeth P; Finnegan, Niamh; Jackson, Marie; Mills, Kevin; Vellodi, Ashok; Cleary, Maureen; Winchester, Bryan G.

Mol Genet Metab ; 96(4): 218-24, 2009 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-19153055

8.

Consumer satisfaction with National Alliance on Mental Illness written medicine information.

Colvard, Michelle D; Jackson, Marie-Thérèse; Oliveira, Rosana; Scholtes, Karin; Burghart, Steve; Gutíerrez, Cynthia A; Moore, Troy A; Saldaña, Shannon N; VandenBerg, Amy.

Ment Health Clin ; 7(2): 74-80, 2017 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-29955502

9.

The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis.

Georgiou, Theodoros; Christopoulos, George; Anastasiadou, Violetta; Hadjiloizou, Stavros; Cregeen, David; Jackson, Marie; Mavrikiou, Gavriella; Kleanthous, Marina; Drousiotou, Anthi.

Meta Gene ; 2: 200-5, 2014 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-25606403

10.

Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.

Sheth, Jayesh; Mistri, Mehul; Sheth, Frenny; Shah, Raju; Bavdekar, Ashish; Godbole, Koumudi; Nanavaty, Nidhish; Datar, Chaitanya; Kamate, Mahesh; Oza, Nrupesh; Ankleshwaria, Chitra; Mehta, Sanjeev; Jackson, Marie.

JIMD Rep ; 12: 51-63, 2014.

Artículo en Inglés | MEDLINE | ID: mdl-23852624

11.

Diagnosis of congenital disorders of glycosylation type-I using protein chip technology.

Mills, Kevin; Mills, Philippa; Jackson, Marie; Worthington, Viki; Beesley, Clare; Mann, Anúska; Clayton, Peter; Grunewald, Stephanie; Keir, Geoffrey; Young, Liz; Langridge, James; Mian, Nasi; Winchester, Bryan.

Proteomics ; 6(7): 2295-304, 2006 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-16552784

12.

Prenatal diagnosis of cystinosis by quantitative measurement of cystine in chorionic villi and cultured cells.

Jackson, Marie; Young, Elisabeth.

Prenat Diagn ; 25(11): 1045-7, 2005 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-16231319

13.

Research staff turnover and participant adherence in the Women's Health Initiative.

Jackson, Marie; Berman, Nancy; Huber, Margaret; Snetselaar, Linda; Granek, Iris; Boe, Kathryn; Milas, Carole; Spivak, Jill; Chlebowski, Rowan T.

Control Clin Trials ; 24(4): 422-35, 2003 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-12865036

14.

GM1-gangliosidosis type I.

Pavlu, Jiri; Jackson, Marie; Panoskaltsis, Nicki.

Br J Haematol ; 135(4): 422, 2006 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-16942584

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