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Items: 10

1.

A novel PSEN1 mutation (I238M) associated with early-onset Alzheimer's disease in an African-American woman.

Ting SK, Benzinger T, Kepe V, Fagan A, Coppola G, Porter V, Hecimovic S, Chakraverty S, Alvarez-Retuerto AI, Goate A, Ringman JM.

J Alzheimers Dis. 2014;40(2):271-5. doi: 10.3233/JAD-131844.

2.

The impact of the availability of prevention studies on the desire to undergo predictive testing in persons at risk for autosomal dominant Alzheimer's disease.

Hooper M, Grill JD, Rodriguez-Agudelo Y, Medina LD, Fox M, Alvarez-Retuerto AI, Wharton D, Brook J, Ringman JM.

Contemp Clin Trials. 2013 Sep;36(1):256-62. doi: 10.1016/j.cct.2013.07.006. Epub 2013 Jul 19.

3.

Altered functional connectivity in frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2.

Scott-Van Zeeland AA, Abrahams BS, Alvarez-Retuerto AI, Sonnenblick LI, Rudie JD, Ghahremani D, Mumford JA, Poldrack RA, Dapretto M, Geschwind DH, Bookheimer SY.

Sci Transl Med. 2010 Nov 3;2(56):56ra80. doi: 10.1126/scitranslmed.3001344.

4.

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.

Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, Sonnenblick LI, Alvarez Retuerto AI, Imielinski M, Hadley D, Bradfield JP, Kim C, Gidaya NB, Lindquist I, Hutman T, Sigman M, Kustanovich V, Lajonchere CM, Singleton A, Kim J, Wassink TH, McMahon WM, Owley T, Sweeney JA, Coon H, Nurnberger JI, Li M, Cantor RM, Minshew NJ, Sutcliffe JS, Cook EH, Dawson G, Buxbaum JD, Grant SF, Schellenberg GD, Geschwind DH, Hakonarson H.

PLoS Genet. 2009 Jun;5(6):e1000536. doi: 10.1371/journal.pgen.1000536. Epub 2009 Jun 26.

5.

Common genetic variants on 5p14.1 associate with autism spectrum disorders.

Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, Imielinski M, Bradfield JP, Sleiman PM, Kim CE, Hou C, Frackelton E, Chiavacci R, Takahashi N, Sakurai T, Rappaport E, Lajonchere CM, Munson J, Estes A, Korvatska O, Piven J, Sonnenblick LI, Alvarez Retuerto AI, Herman EI, Dong H, Hutman T, Sigman M, Ozonoff S, Klin A, Owley T, Sweeney JA, Brune CW, Cantor RM, Bernier R, Gilbert JR, Cuccaro ML, McMahon WM, Miller J, State MW, Wassink TH, Coon H, Levy SE, Schultz RT, Nurnberger JI, Haines JL, Sutcliffe JS, Cook EH, Minshew NJ, Buxbaum JD, Dawson G, Grant SF, Geschwind DH, Pericak-Vance MA, Schellenberg GD, Hakonarson H.

Nature. 2009 May 28;459(7246):528-33. doi: 10.1038/nature07999. Epub 2009 Apr 28.

6.

Association of common variants in the Joubert syndrome gene (AHI1) with autism.

Alvarez Retuerto AI, Cantor RM, Gleeson JG, Ustaszewska A, Schackwitz WS, Pennacchio LA, Geschwind DH.

Hum Mol Genet. 2008 Dec 15;17(24):3887-96. doi: 10.1093/hmg/ddn291. Epub 2008 Sep 9.

7.

Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways.

Nishimura Y, Martin CL, Vazquez-Lopez A, Spence SJ, Alvarez-Retuerto AI, Sigman M, Steindler C, Pellegrini S, Schanen NC, Warren ST, Geschwind DH.

Hum Mol Genet. 2007 Jul 15;16(14):1682-98. Epub 2007 May 21.

PMID:
17519220
8.

Dysregulation of IL-10 and IL-12p40 in secondary progressive multiple sclerosis.

Soldan SS, Alvarez Retuerto AI, Sicotte NL, Voskuhl RR.

J Neuroimmunol. 2004 Jan;146(1-2):209-15.

PMID:
14698865
9.

Immune modulation in multiple sclerosis patients treated with the pregnancy hormone estriol.

Soldan SS, Alvarez Retuerto AI, Sicotte NL, Voskuhl RR.

J Immunol. 2003 Dec 1;171(11):6267-74.

10.

[Molecular diagnosis of fragile X syndrome with polymerase chain reaction: application of a diagnostic protocol in 50 families from northern Spain].

Durán Domínguez M, Molina Carrillo M, Fernández Toral J, Martínez Merino T, López Arístegui MA, Alvarez Retuerto AI, Onaindía Urquijo ML, Tejada Mínguez MI.

An Esp Pediatr. 2001 Apr;54(4):331-9. Spanish.

PMID:
11273816

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