DHPLC analysis of the MECP2 gene in Italian Rett patients

Name: Work Video:
Duration: 3 min 30 s
Piero Nicolao; Massimo Carella; Bruno Giometto; B. Tavolato; Riccardo Cattin; Maria Luisa Giovannucci-Uzielli; Marcella Vacca; Floriana Della Ragione; Stefania Piva; Stefania Bortoluzzi; Paolo Gasparini
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'non-fatal': [1094], 'disorder': [1096], 'males.': [1098, 1516], 'Lancet': [1099], '356:': [1100], '830–': [1101], '832.': [1102], 'Coy': [1103], 'JF,': [1104], 'Sedlacek': [1105], 'Z,': [1106, 1991, 2038], 'Bachner': [1107], 'Hameister': [1109], 'Joos': [1111], 'Lichter': [1113], 'Delius': [1115], 'Poustka': [1117, 1642], 'A': [1120, 1233, 1500, 1748, 1788], 'complex': [1121], 'pattern': [1122], 'evolutionary': [1124], 'conservation': [1125], 'alternative': [1127], 'polyadenylation': [1128], 'within': [1129], 'long': [1131], '3′-untranslated': [1132], '(MeCP2)': [1140], 'suggests': [1141, 1972], 'regulatory': [1143], 'role': [1144], 'expression.': [1147], '8:': [1151, 1189], '1253–': [1152], '1262.': [1153], 'De': [1154], 'Bona': [1155], 'Zappella': [1157, 1870], 'Hayek': [1159, 1868], 'G,': [1160, 1851, 1861, 1869], 'Meloni': [1161, 1479, 1866], 'I,': [1162, 1172, 1480, 1484, 1867, 1913, 2003], 'Vitelli': [1163], 'F,': [1164, 1193, 1262, 1394, 1398, 1486, 1488, 1605, 1780, 1845, 1855, 1857, 1879, 1958, 1989, 2030], 'Bruttini': [1165, 1481], 'Cusano': [1167], 'Loffredo': [1169], 'Longo': [1171, 1483], 'Renieri': [1173, 1497, 1872], 'Preserved': [1176], 'speech': [1177], 'variant': [1178], 'allelic': [1180], 'classic': [1182], 'Eur': [1185, 1439], '325–': [1190], '330.': [1191], 'Giannelli': [1192], 'Anagnostopulos': [1194], 'Green': [1196], 'PM.': [1197], 'Mutation': [1199, 1402, 1887, 2042], 'rates': [1200, 1206, 1351], 'humans.': [1202], 'II.': [1203], 'Sporadic': [1204], 'mutation-specific': [1205], 'rate': [1208], 'detrimental': [1210], 'human': [1211, 1357, 1622, 1660], 'inferred': [1213], 'hemophilia': [1215], 'B.': [1216], '65:': [1221, 1950], '1580–': [1222], '1587.': [1223], 'Hagberg': [1224], 'B,': [1225, 1999], 'Aicardi': [1226], 'Dias': [1228], 'K,': [1229, 1369, 1492, 1635], 'Ramos': [1230], 'O.': [1231], '1983.': [1232], 'progressive': [1234, 1513], 'autism,': [1237], 'dementia,': [1238], 'ataxia,': [1239], 'loss': [1241], 'purposeful': [1243], 'hand': [1244], 'use': [1245], 'girls:': [1247], "Rett's": [1248, 1324], 'report': [1250], '14:': [1256], '471–': [1257, 1569], '479.': [1258], 'Huppke': [1259, 1395], 'Laccone': [1261, 1393], 'Kramer': [1263], 'Engel': [1265], 'W,': [1266, 1448], 'characterization': [1277], '31': [1279], 'patients.': [1280, 2047], '1369–': [1285], '1375.': [1286], 'Jones': [1287], 'PL,': [1288], 'Veenstra': [1289], 'GJ,': [1290], 'Wade': [1291], 'PA,': [1292], 'Vermaak': [1293], 'Kass': [1295], 'SU,': [1296], 'Landsberger': [1297], 'Strouboulis': [1299], 'Wolffe': [1301], 'AP.': [1302], '1998.': [1303, 1346, 1457, 1585, 1747, 1820, 1965, 2008], 'Methylated': [1304], 'MeCP2': [1307, 1555, 1592], 'recruit': [1308], 'histone': [1309, 1595], 'deacetylase': [1310, 1596], 'repress': [1312], 'transcription.': [1313], '19:': [1316], '187–': [1317], '191.': [1318], 'AM,': [1320], 'Stephenson': [1321], 'JB.': [1322], '1985.': [1323], 'west': [1328], 'Scotland.': [1330], 'Br': [1331], '(Clin': [1334], 'Res': [1335, 1475, 1544], 'Ed)': [1336], '291:': [1337], '579–': [1338], '582.': [1339], 'Ball': [1342], 'EV,': [1343], 'DN.': [1345], 'Neighboring-nucleotide': [1347], 'effects': [1348], 'germ-line': [1353], 'single-base-pair': [1354], 'substitution': [1355], 'genes.': [1358], '63:': [1363, 1772, 1839], '474–': [1364], '488.': [1365], 'Kuklin': [1366], 'Munson': [1368], 'Gjerde': [1370], 'Haefele': [1372], 'Taylor': [1374], 'P.': [1375, 1651, 1720], '1997.': [1376, 1429, 1554, 1787], 'Detection': [1377], 'single-nucleotide': [1379], 'polymorphisms': [1380], 'WAVE': [1383], 'fragment': [1385], 'system.': [1387], 'Test': [1389], '1:': [1390], '201–': [1391], '206.': [1392], 'Meins': [1399], 'M.': [1400, 1611, 1885, 2007, 2040], 'spectrum': [1403], 'German': [1411], 'population.': [1412], 'Evidence': [1413], 'hot': [1415], 'spots': [1416], 'regions.': [1417, 1666], '17:': [1420], '183–': [1421], '190.': [1422, 1671], 'Bower': [1425], 'English': [1427], 'D.': [1428], 'incidence': [1433], 'Australia.': [1438], 'Child': [1440], 'Adolesc': [1441], 'Psychiatry': [1442], '6(Suppl': [1443], '1):': [1444], '8–': [1445], '10.': [1446], 'Liu': [1447], 'DI,': [1450], 'Rechtzigel': [1451], 'Thibodeau': [1453], 'SN,': [1454], 'James': [1455], 'CD.': [1456], 'Denaturing': [1458], 'performance': [1460], 'used': [1464], 'detection': [1467], 'germline': [1469], 'somatic': [1471], 'Nucleic': [1473, 1542], 'Acids': [1474, 1543], '1396–': [1477], '1400.': [1478], 'Mari': [1485], 'Rizzolio': [1487], "D'Adamo": [1489], 'Denvriendt': [1491], 'Fryns': [1493], 'Toniolo': [1495], 'gene,': [1506], 'causes': [1508], 'mental': [1510], 'retardation': [1511], 'spasticity': [1514], '982–': [1522], '985.': [1523], 'Nan': [1524, 1548, 1571], 'X,': [1525, 1549, 1572, 1911], 'Meehan': [1526], 'RR,': [1527], 'Bird': [1528, 1552, 1583], '1993.': [1530], 'Dissection': [1531], 'methyl-CpG': [1534], 'domain': [1536], 'chromosomal': [1539], 'MeCP2.': [1541], '21:': [1545], '4886–': [1546], '4892.': [1547], 'Campoy': [1550], 'FJ,': [1551], 'transcriptional': [1558], 'repressor': [1559], 'abundant': [1561], 'sites': [1563], 'genomic': [1565], 'chromatin.': [1566], 'Cell': [1567], '88:': [1568], '481.': [1570], 'Ng': [1573], 'HH,': [1574], 'Johnson': [1575], 'CA,': [1576], 'Laherty': [1577], 'CD,': [1578, 2001], 'Turner': [1579], 'BM,': [1580], 'Eisenman': [1581], 'RN,': [1582], 'Transcriptional': [1586], 'repression': [1587], 'involves': [1593], 'complex.': [1597], 'Nature': [1598], '393:': [1599], '386–': [1600], '389.': [1601], 'Quaderi': [1602], 'NA,': [1603], 'Gianfrancesco': [1604], 'Brown': [1606], 'SD,': [1607], "D'Urso": [1608, 1874], "D'Esposito": [1610, 1876], '1996.': [1612], 'Isolation,': [1613], 'physical': [1614], 'mapping,': [1615], 'northern': [1617], 'CpG-binding': [1626], 'protein,': [1627], 'MECP2.': [1628], 'Mamm': [1629, 1667], 'Genome': [1630, 1668], '7:': [1631], '533–': [1632], '535.': [1633], 'Reichwald': [1634], 'Thiesen': [1636], 'Wiehe': [1638], 'Weitzel': [1640], 'WA,': [1643], 'Rosenthal': [1644], 'Platzer': [1646], 'Stratling': [1648], 'WH,': [1649], 'Kioschis': [1650], 'Comparative': [1653], 'MECP2-locus': [1658], 'mouse': [1662], 'reveals': [1663], 'new': [1664, 1789], 'transcribed': [1665], '11:': [1669], '182–': [1670], '1966.': [1674], 'Uber': [1675], 'ein': [1676], 'eigenartiges': [1677], 'hirnatropisches': [1678], 'Syndrom': [1679], 'bei': [1680], 'Hyperammoniamie': [1681], 'Kindesalter': [1683], '(On': [1684], 'unusual': [1686], 'brain': [1687], 'atrophic': [1688], 'hyperammonemia': [1691], 'childhood).': [1693], 'Wein': [1694], 'Wochenschr': [1696], '116:': [1697], '723–': [1698], '726.': [1699], 'Criteria': [1703], 'Work': [1704], 'Group.': [1705], '1988.': [1706], 'criteria': [1708], '425–': [1715], '428.': [1716], 'Roff': [1717], 'DA,': [1718], 'Bentzen': [1719], '1989.': [1721], 'statistical': [1723], 'mitochondrial': [1726], 'polymorphisms:': [1728], 'chi': [1729], 'problem': [1733], 'small': [1735], 'samples.': [1736], 'Bio': [1738], 'Evol': [1739], '6:': [1740], '539–': [1741], '545.': [1742], 'Schanen': [1743, 1775, 1928], 'NC,': [1744, 1776, 1929], 'U.': [1746, 1786, 1931], 'severely': [1749], 'affected': [1750], 'male': [1751], 'born': [1752], 'into': [1753], 'kindred': [1757], 'supports': [1758], 'inheritance': [1760, 1796], 'allows': [1762], 'extension': [1763], 'exclusion': [1766, 1801], 'map.': [1767, 1802], '267–': [1773], '269.': [1774], 'Capozzoli': [1779], 'Holm': [1781], 'VA,': [1782], 'family': [1792], 'consistent': [1793], 'expands': [1797], '61:': [1807], '634–': [1808], '641.': [1809], 'Sirianni': [1810], 'Naidu': [1812, 1920], 'Pereira': [1814, 1922, 1959], 'Pillotto': [1816], 'RF,': [1817], 'Hoffman': [1818], 'EP.': [1819], 'confirmation': [1823], 'inheritance,': [1827], 'localization': [1829], 'Xq28.': [1834, 1981], '1552–': [1840], '1558.': [1841], 'Filippini': [1844], 'Budillon': [1846], 'Rossi': [1848], 'V,': [1849], 'Mercadante': [1850], 'Manzati': [1852], 'E,': [1853, 1863, 1865], 'Gualandi': [1854], 'Bigoni': [1856], 'Trabanelli': [1858], 'Pini': [1860], 'Calzolari': [1862], 'Ferlini': [1864], 'MacDonald': [1878], 'Dhanjal': [1882], 'Hultèn': [1884], 'British': [1894], 'females.': [1899], '78:': [1903], '648–': [1904], '655.': [1905], 'Lee': [1908], 'SS,': [1909], 'Zhang': [1910, 1990, 2037], 'Houwink-Manville': [1912], 'Song': [1914], 'HR,': [1915], 'Budden': [1918], 'JL,': [1923, 1960], 'Lo': [1924], 'IF,': [1925], 'beyond:': [1936], 'spontaneous': [1938], 'familial': [1940], 'at': [1943, 1980], 'hotspots.': [1945], '1520–': [1951], '1529.': [1952], 'Webb': [1953], 'Rosenbloom': [1961], 'Woods': [1963], 'CG.': [1964], 'Linkage': [1966], 'families': [1971], 'that': [1973], 'there': [1974], 'may': [1975], 'be': [1976], 'critical': [1978], '35:': [1985, 2026], '997–': [1986], '1003.': [1987], 'Xiang': [1988, 2029], 'Joseluiz': [1994], 'Sakkubai': [1996], 'Sarojini': [1998], 'Delozier-Blanchet': [2000], 'Hansmann': [2002], 'Edstrom': [2004], 'Anvret': [2006, 2039], 'Chromosome': [2009], 'mapping': [2010], 'likely': [2015], 'candidate': [2016], 'telomere': [2020], 'Xq.': [2022], '297–': [2027], '300.': [2028], 'Buervenich': [2031], 'Bailey': [2035], 'ME,': [2036], '37:': [2051], '250–': [2052], '255.': [2053], 'Citing': [2054], 'Literature': [2055], 'Volume18,': [2056], 'Issue2August': [2057], '2001Pages': [2058], 'ReferencesRelatedInformation': [2060]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2023376868', 'counts_by_year': [{'year': 2019, 'cited_by_count': 1}, {'year': 2016, 'cited_by_count': 1}, {'year': 2012, 'cited_by_count': 1}], 'updated_date': '2024-12-14T02:34:09.218707', 'created_date': '2016-06-24'}
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