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1 - 25 of 92 results for author:"Valle D." in Literature citations

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Inactivation of the microRNA-183/96/182 cluster results in syndromic retinal degeneration.

Lumayag S., Haldin C.E., Corbett N.J., Wahlin K.J., Cowan C., Turturro S., Larsen P.E., Kovacs B., Witmer P.D., Valle D. et al.

Proc. Natl. Acad. Sci. U.S.A. 110:E507-16(2013) · Mapped (750)

NGAL (Lcn2) monomer is associated with tubulointerstitial damage in chronic kidney disease.

Nickolas T.L., Forster C.S., Sise M.E., Barasch N., Valle D.S., Viltard M., Buchen C., Kupferman S., Carnevali M.L., Bennett M. et al.

Kidney Int. 82:718-722(2012) · Mapped (2)

Urinary neutrophil gelatinase-associated lipocalin predicts mortality and identifies acute kidney injury in cirrhosis.

Verna E.C., Brown R.S., Farrand E., Pichardo E.M., Forster C.S., Sola-Del Valle D.A., Adkins S.H., Sise M.E., Oliver J.A., Radhakrishnan J. et al.

Dig. Dis. Sci. 57:2362-2370(2012) · Mapped (2)

Urinary NGAL is a useful clinical biomarker of HIV-associated nephropathy.

Sola-Del Valle D.A., Mohan S., Cheng J.T., Paragas N.A., Sise M.E., D'Agati V.D., Barasch J.

Nephrol. Dial. Transplant. 26:2387-2390(2011) · Mapped (2)

Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism.

Mejias R., Adamczyk A., Anggono V., Niranjan T., Thomas G.M., Sharma K., Skinner C., Schwartz C.E., Stevenson R.E., Fallin M.D. et al.

Proc. Natl. Acad. Sci. U.S.A. 108:4920-4925(2011) · Mapped (36)

Linkage and association on 8p21.2-p21.1 in schizophrenia.

Fallin M.D., Lasseter V.K., Liu Y., Avramopoulos D., McGrath J., Wolyniec P.S., Nestadt G., Liang K.Y., Chen P.L., Valle D. et al.

Am. J. Med. Genet. B Neuropsychiatr. Genet. 156:188-197(2011) · Mapped (6)

Microdeletions of 3q29 confer high risk for schizophrenia.

Mulle J.G., Dodd A.F., McGrath J.A., Wolyniec P.S., Mitchell A.A., Shetty A.C., Sobreira N.L., Valle D., Rudd M.K., Satten G. et al.

Am. J. Hum. Genet. 87:229-236(2010) · Mapped (8)

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.

Sobreira N.L., Cirulli E.T., Avramopoulos D., Wohler E., Oswald G.L., Stevens E.L., Ge D., Shianna K.V., Smith J.P., Maia J.M. et al.

PLoS Genet. 6:E1000991-E1000991(2010) · UniProtKB (1) · Mapped (5)

Type I hyperprolinemia: genotype/phenotype correlations.

Guilmatre A., Legallic S., Steel G., Willis A., Di Rosa G., Goldenberg A., Drouin-Garraud V., Guet A., Mignot C., Des Portes V. et al.

Hum. Mutat. 31:961-965(2010) · Mapped (1)

Replication of an association of a common variant in the Reelin gene (RELN) with schizophrenia in Ashkenazi Jewish women.

Liu Y., Chen P.L., McGrath J., Wolyniec P., Fallin D., Nestadt G., Liang K.Y., Pulver A., Valle D., Avramopoulos D.

Psychiatr. Genet. 20:184-186(2010) · Mapped (5)

PHR1 is a vesicle-bound protein abundantly expressed in mature olfactory neurons.

Tan B., Brown D., Xu S., Valle D.

Laryngoscope 120:1002-1010(2010) · UniProtKB (1) · Mapped (4)

Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency.

Stucki M., Suormala T., Fowler B., Valle D., Baumgartner M.R.

J. Biol. Chem. 284:28953-28957(2009) · Mapped (6)

Lack of change in insulin levels as a biological marker of PAI-1 lowering in GH-deficient adults on r-HGH replacement therapy.

Di Minno M.N., Palmieri V., Lombardi G., Pezzullo S., Cirillo F., Di Somma C., Valle D., Di Minno G.

Thromb. Res. 124:711-713(2009) · Mapped (7)

A screen of SLC1A1 for OCD-related alleles.

Wang Y., Adamczyk A., Shugart Y.Y., Samuels J.F., Grados M.A., Greenberg B.D., Knowles J.A., McCracken J.T., Rauch S.L., Murphy D.L. et al.

Am. J. Med. Genet. B Neuropsychiatr. Genet. 153B:675-679(2010) · Mapped (2)

Voltage-gated sodium channel polymorphism and metabolic resistance in pyrethroid-resistant Aedes aegypti from Brazil.

Martins A.J., Lins R.M., Linss J.G., Peixoto A.A., Valle D.

Am. J. Trop. Med. Hyg. 81:108-115(2009) · UniProtKB (4)

Fine mapping on chromosome 10q22-q23 implicates Neuregulin 3 in schizophrenia.

Chen P.L., Avramopoulos D., Lasseter V.K., McGrath J.A., Fallin M.D., Liang K.Y., Nestadt G., Feng N., Steel G., Cutting A.S. et al.

Am. J. Hum. Genet. 84:21-34(2009) · Mapped (17)

Human Delta1-pyrroline-5-carboxylate synthase: function and regulation.

Hu C.A., Khalil S., Zhaorigetu S., Liu Z., Tyler M., Wan G., Valle D.

Amino Acids 35:665-672(2008) · Mapped (1)

Stage II follow-up on a linkage scan for bipolar disorder in the Ashkenazim provides suggestive evidence for chromosome 12p and the GRIN2B gene.

Avramopoulos D., Lasseter V.K., Fallin M.D., Wolyniec P.S., McGrath J.A., Nestadt G., Valle D., Pulver A.E.

Genet. Med. 9:745-751(2007) · Mapped (2)

Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans.

Wu Y., Arai A.C., Rumbaugh G., Srivastava A.K., Turner G., Hayashi T., Suzuki E., Jiang Y., Zhang L., Rodriguez J. et al.

Proc. Natl. Acad. Sci. U.S.A. 104:18163-18168(2007) · UniProtKB (1)

MicroRNA (miRNA) transcriptome of mouse retina and identification of a sensory organ-specific miRNA cluster.

Xu S., Witmer P.D., Lumayag S., Kovacs B., Valle D.

J. Biol. Chem. 282:25053-25066(2007) · Mapped (2)

Rare plus common SERT variants in obsessive-compulsive disorder.

Grados M.A., Samuels J., Shugart Y.Y., Willour V.L., Wang Y., Cullen B., Bienvenu O.J., Hoehn-Saric R., Valle D., Liang K.Y. et al.

Mol. Psychiatry 12:422-423(2007) · Mapped (3)

Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities.

Balciuniene J., Feng N., Iyadurai K., Hirsch B., Charnas L., Bill B.R., Easterday M.C., Staaf J., Oseth L., Czapansky-Beilman D. et al.

Am. J. Hum. Genet. 80:938-947(2007) · UniProtKB (1)

X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation.

Zhang L., Jie C., Obie C., Abidi F., Schwartz C.E., Stevenson R.E., Valle D., Wang T.

Genome Res. 17:641-648(2007) · Mapped (1)

A novel gene derived from a segmental duplication shows perturbed expression in Alzheimer's disease.

Avramopoulos D., Wang R., Valle D., Fallin M.D., Bassett S.S.

Neurogenetics 8:111-120(2007) · UniProtKB (2)

Cloning and daily expression of the timeless gene in Aedes aegypti (Diptera:Culicidae).

Gentile C., Meireles-Filho A.C., Britto C., Lima J.B., Valle D., Peixoto A.A.

Insect Biochem. Mol. Biol. 36:878-884(2006) · UniProtKB (1)

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