|1|Novel MBTPS2 missense mutation in the N-terminus transmembrane domain in a patient with ichthyosis follicularis, alopecia, and photophobia syndrome. (23551428)
Izumi K.... Krantz I.D.
|2|Neural Wiskott-Aldrich syndrome protein (N-WASP)-mediated p120-catenin interaction with Arp2-Actin complex stabilizes endothelial adherens junctions. (23212915)
Rajput C.... Mehta D.
|3|Potential cross-reactivity of severe acute respiratory syndrome-associated coronavirus (SARS-CoV) nucleocapsid (N)-based IgG ELISA assay for plasma samples from HIV-1 positive intravenous drug users (IDUs). (22983073)
Yasmon A.... Sjahrurachman A.
|4|An atypical facial appearance and growth pattern in a child with Cornelia de Lange Syndrome: an intragenic deletion predicting loss of the N-terminal region of NIPBL. (21934607)
Murray J.E.... FitzPatrick D.R.
|5|Wiskott-Aldrich syndrome protein (WASP) and N-WASP are critical for peripheral B-cell development and function. (22411869)
Westerberg L.S.... Snapper S.B.
|6|The Werner syndrome protein promotes CAG/CTG repeat stability by resolving large (CAG)(n)/(CTG)(n) hairpins. (22787159)
Chan N.L.... Li G.M.
|7|Discerning non-disjunction in Down syndrome patients by means of GluK1-(AGAT)(n) and D21S2055-(GATA)(n) microsatellites on chromosome 21. (23162297)
Ghosh D.... Nandagopal K.
|8|Prognostic value of N-terminal pro-B-type natriuretic peptide in patients with acute coronary syndromes undergoing left main percutaneous coronary intervention. (21891968)
Jaberg L.... Corti R.
|9|The (TAAAA)n polymorphism of the SHBG gene in men with the metabolic syndrome. (20690069)
Xita N.... Tsatsoulis A.
|10|hERG1a N-terminal eag domain-containing polypeptides regulate homomeric hERG1b and heteromeric hERG1a/hERG1b channels: a possible mechanism for long QT syndrome. (22124116)
Trudeau M.C.... Robertson G.A.
|11|Dynamic changes in N-terminal pro-brain natriuretic peptide in acute coronary syndromes treated with percutaneous coronary intervention: a marker of ischemic burden, reperfusion and outcome. (20441480)
Buchner S.... Luchner A.
|12|Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB). (20138557)
Champion K.J.... Maystadt I.
|13|Evaluation of the association between the CYP19 Tetranucleotide (TTTA)n polymorphism and polycystic ovarian syndrome(PCOS) in Han Chinese women. (20588246)
Hao C.F.... Chen Z.J.
|14|Words of wisdom. Re: Alfuzosin and symptoms of chronic prostatitis-chronic pelvic pain syndrome. Nickel JC, Krieger JN, McNaughton-Collins M, et al; Chronic Prostatitis Collaborative Research Network. N Engl J Med 2008;359:2663-73. (19995516)
|15|Relation between N-terminal pro-B-type natriuretic peptide and coronary plaque components in patients with acute coronary syndrome: virtual histology-intravascular ultrasound analysis. (19838110)
Hong Y.J.... Kang J.C.
|16|Intra-cornu ammonis 1 administration of the human immunodeficiency virus-1 protein trans-activator of transcription exacerbates the ethanol withdrawal syndrome in rodents and activates N-methyl-D-aspartate glutamate receptors to produce persisting spatial learning deficits. (19619615)
Self R.L.... Prendergast M.A.
|17|N-acetylcysteine effects on genotoxic and oxidative stress parameters in cirrhotic rats with hepatopulmonary syndrome. (18341514)
Vercelino R.... Marroni N.P.
|18|In utero onset of long QT syndrome with atrioventricular block and spontaneous or lidocaine-induced ventricular tachycardia: compound effects of hERG pore region mutation and SCN5A N-terminus variant. (18848812)
Lin M.-T.... Chahine M.
|19|Without its N-finger, the main protease of severe acute respiratory syndrome coronavirus can form a novel dimer through its C-terminal domain. (18305043)
Zhong N.... Xia B.
|20|In vitro bioactivation of 3-(N-phenylamino)propane-1,2-diol by human and rat liver microsomes and recombinant P450 enzymes. Implications for toxic oil syndrome. (17672514)
MartA-nez-Cabot A.... Messeguer A.
|21|Proton MR spectroscopy: higher right anterior cingulate N-acetylaspartate/choline ratio in Asperger syndrome compared with healthy controls. (17846198)
Oner O.... Munir K.M.
|22|Comparison of effectiveness of whole viral, N and N199 proteins by ELISA for the rapid diagnosis of severe acute respiratory syndrome coronavirus. (18167201)
Guo Z.M.... Zhu X.Q.
|23|No association between the microsatellite polymorphism (TTTTA)n in the promoter of the CYP11A gene and ovarian hyperstimulation syndrome. (16391898)
Ferk P.... Teran N.
|24|Effects of nebulized N(G)-nitro-L-arginine methyl ester in patients with hepatopulmonary syndrome. (16628648)
GA^mez F.P.... RodrA-guez-Roisin R.
|25|Synthesis and stability studies of the glutathione and N-acetylcysteine adducts of an iminoquinone reactive intermediate generated in the biotransformation of 3-(N-phenylamino)propane-1,2-diol: implications for toxic oil syndrome. (16300381)
MartA-nez-Cabot A.... Messeguer A.
|26|Management of non-ST-segment-elevation acute coronary syndromes in Spain. The DESCARTES (DescripciA^n del Estado de los SA-ndromes Coronarios Agudos en un Registro Temporal ESpaA+ol) study]. (15766446)
Bueno H.... Heras M.
|27|Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase. (15930196)
Harmatz P.... Hopwood J.J.
|28|RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway. (15317757)
Yin J.... Wang W.
|29|Sequential interaction of actin-related proteins 2 and 3 (Arp2/3) complex with neural Wiscott-Aldrich syndrome protein (N-WASP) and cortactin during branched actin filament network formation. (12732638)
Uruno T.... Zhan X.
|30|An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. (12915477)
McLean W.H.I.... McGrath J.A.
|31|Structure of the N-WASP EVH1 domain-WIP complex: insight into the molecular basis of Wiskott-Aldrich Syndrome. (12437929)
Volkman B.F.... Lim W.A.
|32|Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I. (12145749)
Takahara K.... Greenspan D.S.
|33|Human brain cytosolic histamine-N-methyltransferase is decreased in Down syndrome and increased in Pick's disease. (11880199)
Kim S.H.... Lubec G.
|34|Synaptosomal proteins, beta-soluble N-ethylmaleimide-sensitive factor attachment protein (beta-SNAP), gamma-SNAP and synaptotagmin I in brain of patients with Down syndrome and Alzheimer's disease. (11244216)
Yoo B.C.... Lubec G.
|35|Interactions between the Werner syndrome helicase and DNA polymerase delta specifically facilitate copying of tetraplex and hairpin structures of the d(CGG)n trinucleotide repeat sequence. (11279038)
Kamath-Loeb A.S.... Fry M.
|36|A novel neural Wiskott-Aldrich syndrome protein (N-WASP) binding protein, WISH, induces Arp2/3 complex activation independent of Cdc42. (11157975)
Fukuoka M.... Takenawa T.
|37|Age-specific N-methyl-D-aspartate-induced seizures: perspectives for the West syndrome model. (10528930)
KA!bovA! R.... VelA-sek L.
|38|Identification of 12 novel mutations in the alpha-N- acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). (9832037)
Beesley C.E.... Winchester B.G.
|39|No concomitant occurrence of the N-ras and p53 gene mutations in myelodysplastic syndromes. (9177441)
Mitani K.... Hirai H.
|40|A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome. (8884270)
LAPnnqvist L.... Peltonen L.
|41|Autoreactive T-cells in Goodpasture's syndrome recognize the N-terminal NC1 domain on alpha 3 type IV collagen. (8691734)
Merkel F.... Weber M.
|42|Carbohydrate-deficient glycoprotein syndrome type II. An autosomal recessive N-acetylglucosaminyltransferase II deficiency different from typical hereditary erythroblastic multinuclearity, with a positive acidified-serum lysis test (HEMPAS). (7607254)
Charuk J.H.... Schachter H.
|43|Prenatal diagnosis of fragile X syndrome: (CGG)n expansion and methylation of chorionic villus samples. (8559749)
CastellvA--Bel S.... Estivill X.
|44|Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome. (7783179)
Macpherson J.N.... Jacobs P.A.
|45|On the catastrophic antiphospholipid syndrome. A comment on the editorial by AlarcA^n-Segovia. (8070172)
|46|Expression of lacto-N-fucopentaose III (CD15)- and sialyl-Lewis X-bearing molecules and their functional properties in eosinophils from patients with the idiopathic hypereosinophilic syndrome. (7835953)
Satoh T.... Spry C.J.
|47|Molecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families. (7927336)
MilA M.... LA^pez I.
|48|N-terminal sequence of prion protein is also integrated into kuru plaques in patients with Gerstmann-StrAoussler syndrome. (1677605)
Kitamoto T.... Tateishi J.
|49|Identification of amyloid A protein in a sporadic Muckle-Wells syndrome. N-terminal amino acid sequence after isolation from formalin-fixed tissue. (6406764)
Linke R.P.... Eulitz M.
|50|A comparison of the major platelet membrane glycoproteins from Bernard-Soulier syndrome with normals after radiolabelling of sialic acid or terminal galactose/N-acetylgalactosamine residues. (7385102)
McGregor J.L.... Dechavanne M.