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'2007': [1059, 1395], 'https://doi.org/10.1002/humu.20594Citations:': [1060], '18': [1061], '†': [1062], 'Communicated': [1063], 'Jean-Louis': [1065], 'Mandel': [1066], 'AboutPDF': [1067], 'ToolsRequest': [1068], 'permissionExport': [1069], 'citationAdd': [1070], 'to': [1071, 1093, 1116, 1156, 1376, 1602, 1645, 1832, 2609, 2656], 'favoritesTrack': [1072], 'citation': [1073], 'ShareShare': [1074], 'Give': [1075], 'accessShare': [1076, 1079], 'full': [1077], 'text': [1078], 'full-text': [1080, 1095, 1119], 'accessPlease': [1081], 'review': [1082, 1791], 'our': [1083], 'Terms': [1084, 1107], 'and': [1085, 1089, 1101, 1108, 1127, 1158, 1187, 1217, 1228, 1234, 1238, 1283, 1288, 1296, 1318, 1334, 1336, 1349, 1374, 1563, 1715, 1780, 1792, 1828, 1977, 2017, 2049, 2082, 2118, 2197, 2203, 2494], 'Conditions': [1086, 1109], 'of': [1087, 1097, 1110, 1121, 1149, 1162, 1178, 1304, 1379, 1420, 1427, 1470, 1512, 1519, 1608, 1675, 1743, 1776, 1787, 1860, 1935, 1980, 2019, 2025, 2085, 2113, 2120, 2159, 2355, 2548, 2586, 2639], 'Use': [1088], 'check': [1090], 'box': [1091], 'below': [1092, 1115], 'share': [1094, 1117], 'version': [1096, 1120], 'article.I': [1098], 'have': [1099], 'read': [1100], 'accept': [1102], 'the': [1103, 1113, 1136, 1173, 1179, 1212, 1256, 1305, 1338, 1369, 1377, 1380, 1421, 1522, 1712, 1739, 1864, 1943, 1981, 2026, 2157, 2305, 2331, 2352, 2456, 2498, 2546, 2549, 2591, 2635, 2645, 2657, 2661], 'Wiley': [1104], 'Online': [1105], 'Library': [1106], 'UseShareable': [1111], 'LinkUse': [1112], 'link': [1114, 1829], 'a': [1118, 1146, 1235, 1356, 1474, 1574, 1606, 2124, 2349], 'article': [1123, 2612], 'with': [1124, 1145, 1232, 1263, 1300, 1514, 1573, 1785, 1909, 1942, 2393], 'your': [1125], 'friends': [1126], 'colleagues.': [1128], 'Learn': [1129], 'more.Copy': [1130], 'URL': [1131], 'Abstract': [1132], 'Holoprosencephaly': [1133, 1600, 1643], '(HPE)': [1134], 'is': [1135, 1153, 1361, 2631], 'most': [1137], 'common': [1138, 2587], 'developmental': [1139, 1387], 'brain': [1140, 2356], 'anomaly': [1141], 'human,': [1143], 'associated': [1144, 1299], 'wide': [1147, 1381], 'spectrum': [1148, 1383], 'presentations.': [1150], 'The': [1151, 1736, 2080, 2605, 2629], 'etiology': [1152], 'heterogeneous,': [1154], 'due': [1155, 1601, 1644], 'environmental': [1157], 'genetic': [1159, 1364], 'factors.': [1160], 'Out': [1161, 1303], 'cytogenetic': [1164], 'candidate': [1165, 1215, 1313, 1475], 'loci': [1166, 1174, 1216, 1315], 'previously': [1167], 'reported,': [1168], 'eight': [1169], 'were': [1170, 1184, 1250, 1272, 1297], 'subtelomeric,': [1171], 'including': [1172], 'which': [1176, 1360], 'two': [1177, 1194, 1264, 1276, 1428, 1679], 'four': [1180], 'major': [1181], 'HPE': [1182, 1208, 1233, 1314, 1373, 1523], 'genes': [1183, 1195, 1782], 'identified': [1185], '(SHH': [1186], 'TGIF).': [1188], 'Recently,': [1189], 'we': [1190, 1202, 1308], 'reported': [1191], 'that': [1192, 1204, 1280, 1351], 'these': [1193, 1275], 'could': [1196, 1210], 'be': [1197, 1353, 1654, 2614, 2654], 'mutated': [1198], 'or': [1199, 1244, 2637], 'microdeleted.': [1200], 'Therefore,': [1201], 'hypothesized': [1203], 'subtelomeres': [1205], 'patients': [1209, 1240, 1572, 1784, 1908, 2392], 'refine': [1211], 'known': [1213, 1281, 1312], 'identify': [1218], 'ones.': [1220], 'In': [1221], 'study,': [1223], '181': [1224, 1306], 'samples,': [1225, 1307], '72': [1226], 'fetuses': [1227], '109': [1229], 'live-born': [1230], 'infants,': [1231], 'normal': [1236, 1575, 2204], 'karyotype,': [1237], '10': [1239], 'deleted': [1241], 'SHH': [1243, 1282], 'TGIF': [1245, 1284, 1422, 1781, 1825], '(3.5': [1246, 1294], 'Mb': [1247], 'from': [1248, 1355], 'telomeres)': [1249], 'screened': [1251], 'using': [1255, 1913, 2123, 2397], 'multiplex': [1257, 1914, 2126, 2398], 'ligation': [1258, 1915], 'probe-dependent': [1259], 'amplification': [1260, 1918, 2129, 2401], '(MLPA)': [1261, 2130], 'method': [1262], 'kits.': [1265, 1277], 'Quantitative': [1266], 'PCR': [1267, 1565], 'was': [1268], 'performed': [1269], 'when': [1270], 'discrepancies': [1271], 'observed': [1273], 'between': [1274, 1345, 2195], 'We': [1278, 1341], 'found': [1279, 1343], 'microdeletions': [1285, 1520], 'on': [1286], '7q': [1287], '18p,': [1289], 'encompassed': [1290], 'their': [1291, 1716], 'region': [1293], 'Mb)': [1295], 'often': [1298], 'cryptic': [1301, 1346, 2114], 'gains.': [1302], 'detected': [1309, 2390], '(1q,': [1316], '20p,': [1317], '21q)': [1319], 'as': [1320, 1322, 1473], 'well': [1321], 'other': [1324], 'locations': [1327], '(1p,': [1328], '5q,': [1329], '8p,': [1330], '17q,': [1331], '18q,': [1332], '22q,': [1333], 'Xq)': [1335], 'subcentromeric': [1339], '15q.': [1340], 'also': [1342], 'associations': [1344], 'gain': [1348], 'loss': [1350], 'may': [1352, 1653], 'inherited': [1354, 2086], 'parental': [1357, 1657], 'balanced': [1358], 'translocation,': [1359], 'helpful': [1362], 'counseling.': [1365], 'These': [1366], 'findings': [1367], 'reinforce': [1368], 'multihit': [1370], 'origin': [1371], 'contribute': [1375], 'explanation': [1378], 'phenotypic': [1382], 'described': [1384], 'disorder.': [1388], 'Hum': [1389, 1431, 1525, 1660, 1724, 1795, 1947, 2031, 2053, 2132, 2166, 2403, 2503, 2596], 'Mutat': [1390, 1796, 1948, 2133, 2404], '28(12),': [1391], '1189–1197,': [1392], '2007.': [1393, 2582], '©': [1394], 'Wiley-Liss,': [1396], 'Inc.': [1397, 2092], 'REFERENCES': [1398], 'Aguilella': [1399, 1969], 'C,': [1400, 1402, 1453, 1486, 1488, 1504, 1531, 1539, 1625, 1627, 1755, 1761, 1927, 1929, 1955, 1970, 2140, 2269, 2285, 2291, 2573], 'Attia-Sobol': [1403], 'J,': [1404, 1406, 1445, 1817, 2104, 2106, 2243, 2265, 2273, 2277, 2375, 2381, 2409, 2413, 2415, 2417, 2433, 2435, 2540], 'Vigneron': [1405], 'Blayau': [1407, 1622, 1762, 1961, 2141], 'M,': [1408, 1439, 1537, 1551, 1623, 1690, 1763, 1819, 1883, 1962, 2059, 2142, 2241, 2425, 2427], 'L,': [1410, 1412, 1492, 1545, 1694, 1757, 1759, 1809, 1845, 1953, 1957, 2138, 2144, 2172, 2180, 2182, 2219, 2255, 2279, 2366, 2530], 'Lazaro': [1411, 1756, 1952, 2143], 'S,': [1414, 1498, 1506, 1553, 1594, 1619, 1770, 1885, 2005, 2215, 2235, 2373, 2421, 2480], 'V.': [1416, 1508, 1772], '2003.': [1417], 'Molecular': [1418, 1510, 1774], 'gene': [1423, 1476, 2161, 2335, 2552], 'holoprosencephaly:': [1425, 1940], 'identification': [1426, 2119], 'mutations.': [1430], 'Genet': [1432, 1481, 1526, 1579, 1612, 1662, 1684, 1725, 1838, 1868, 1922, 1987, 2032, 2054, 2167, 2339, 2504, 2519, 2556, 2597], '112:': [1433], '131–': [1434], '134.': [1435], 'Belloni': [1436, 2314], 'E,': [1437, 1441, 1807, 2313, 2315, 2344, 2368, 2526], 'Muenke': [1438, 1558, 1597, 1640, 1818, 2038, 2058, 2326, 2345, 2541], 'Roessler': [1440, 1806, 2312, 2343, 2525], 'Traverso': [1442], 'G,': [1443, 2176, 2536], 'Siegel-Bartelt': [1444], 'Frumkin': [1446], 'A,': [1447, 1535, 1635, 1700, 1704, 1813, 2178, 2267, 2439, 2447, 2509, 2534], 'Mitchell': [1448], 'HF,': [1449], 'Donis-Keller': [1450], 'H,': [1451, 1669, 2098, 2225, 2289, 2423], 'Helms': [1452], 'Hing': [1454], 'AV,': [1455], 'Heng': [1456], 'HH,': [1457], 'Koop': [1458], 'B,': [1459, 2074, 2078, 2147, 2377, 2411, 2443], 'Martindale': [1460], 'D,': [1461, 1586, 1637, 1803, 1895, 2009, 2072, 2245, 2247, 2488], 'Rommens': [1462, 2539], 'JM,': [1463], 'Tsui': [1464, 2324], 'LC,': [1465, 2325], 'Scherer': [1466, 1854, 2294, 2322], 'SW.': [1467], '1996.': [1468, 2185, 2328], 'Identification': [1469], 'Sonic': [1471, 2333], 'Hedgehog': [1472, 2334], 'responsible': [1477, 2633], 'holoprosencephaly.': [1479, 2050, 2163, 2337, 2554], 'Nat': [1480, 1611, 1837, 1867, 2338, 2555], '14:': [1482, 2340], '353–': [1483], '356.': [1484], 'I,': [1490, 1541], 'Saugier-Veber': [1493], 'P,': [1494, 1702, 1811, 2319, 2321, 2419], 'MR,': [1496, 1768, 1964], 'Jaillard': [1497], 'Frebourg': [1499], 'T,': [1500, 2275, 2532], 'Haddad': [1501, 1532], 'BR,': [1502, 1533], '2006a.': [1509], 'evaluation': [1511], 'foetuses': [1513], 'holoprosencephaly': [1515, 1571, 1748, 1788, 1827], 'shows': [1516], 'high': [1517], 'incidence': [1518], 'genes.': [1524], '119:': [1527], '1–': [1528], '8.': [1529], 'Griffin': [1534], 'Huizing': [1536], 'Cavalli': [1542], 'LR,': [1543, 2567], 'Shanske': [1546], 'AL,': [1547, 2068], 'Long': [1548], 'R,': [1549, 2213, 2253, 2371, 2431, 2482], 'Ouspenskaia': [1550], 'Lacbawan': [1554], 'F,': [1555, 1766, 1960, 2261, 2271, 2281], 'V,': [1557, 1621, 1972, 2149], 'M.': [1559, 1598, 1641, 2039, 2327, 2346, 2449, 2542], '2006b.': [1560], 'Multicolour': [1561], 'FISH': [1562], 'quantitative': [1564, 2125, 2187], 'can': [1566, 2613], 'detect': [1567], 'submicroscopic': [1568, 1709], 'deletions': [1569, 1710, 2389], 'karyotype.': [1576], 'J': [1577, 1682, 1723, 1920, 1985, 2030, 2052, 2165, 2358, 2502, 2517, 2595], 'Med': [1578, 1683, 1921, 1986, 2518], '43:': [1580], '496–': [1581], '500.': [1582], 'Brown': [1583, 1587, 1616, 1638, 2576], 'SA,': [1584, 1639, 1997], 'Warburton': [1585], 'LY,': [1588, 1617], 'Yu': [1589], 'CY,': [1590], 'Roeder': [1591], 'ER,': [1592], 'Stengel-Rutkowski': [1593], 'Hennekam': [1595], 'RC,': [1596], '1998.': [1599, 2347], 'mutations': [1603, 1646, 1652, 1938], 'ZIC2,': [1605, 1778], 'homologue': [1607], 'Drosophila': [1609], 'odd-paired.': [1610], '20:': [1613], '180–': [1614], '183.': [1615], 'Apacik': [1626], 'Delgado': [1628], 'MA,': [1629], 'Hall': [1630], 'BD,': [1631], 'Reynolds': [1632], 'JF,': [1633], 'Sommer': [1634], 'Wieczorek': [1636], '2001.': [1642, 2062], 'ZIC2:': [1648], 'alanine': [1649], 'tract': [1650], 'expansion': [1651], 'caused': [1655], 'somatic': [1658], 'recombination.': [1659], 'Mol': [1661, 2206], '10:': [1663, 2209], '791–': [1664], '796.': [1665], 'Campbell': [1666], 'CG,': [1667, 1891], 'Wang': [1668], 'Hunter': [1670], 'GW.': [1671], '2002.': [1672, 2040], 'Interstitial': [1673], 'microdeletion': [1674], 'chromosome': [1676, 2116], '1p': [1677], 'siblings.': [1680], 'Am': [1681, 1984, 2029, 2051, 2501, 2594], '111:': [1685], '289–': [1686], '294.': [1687], 'De': [1688], 'Rosa': [1689], 'Scarano': [1691], 'MI,': [1692], 'Panariello': [1693], 'Carlomagno': [1695], 'N,': [1696, 2429, 2445], 'Rossi': [1697], 'GB,': [1698], 'Tempesta': [1699], 'Borgheresi': [1701], 'Renda': [1703], 'Izzo': [1705], 'P.': [1706], '1999.': [1707, 2514, 2543], 'Three': [1708], 'at': [1711, 2616], 'APC': [1713], 'locus': [1714], 'rapid': [1717], 'detection': [1718], 'quantitative-PCR': [1720], 'analysis.': [1721], 'Eur': [1722, 2164], '7:': [1726], '695–': [1727], '703.': [1728], 'DeMyer': [1729], 'W,': [1730, 1732, 2231], 'Zeman': [1731], 'Palmer': [1733], 'CG.': [1734], '1964.': [1735], 'face': [1737], 'predicts': [1738], 'brain:': [1740], 'diagnostic': [1741], 'significance': [1742], 'median': [1744], 'facial': [1745], '(arhinencephaly).': [1749], 'Pediatrics': [1750], '34:': [1751], '256–': [1752], '263.': [1753], 'Duff': [1765, 1959], '2004.': [1773, 1858, 1901, 1932, 1975, 2387, 2450], 'SHH,': [1777], 'SIX3,': [1779], 'features': [1786], 'spectrum:': [1789], 'mutation': [1790, 2155], 'genotype-phenotype': [1793], 'correlations.': [1794], '24:': [1797, 1949], '43–': [1798], '51.': [1799], 'Gripp': [1800], 'KW,': [1801, 2076, 2293], 'Wotton': [1802], 'Edwards': [1804], 'MC,': [1805], 'Ades': [1808], 'Meinecke': [1810], 'Richieri-Costa': [1812, 2533], 'Zackai': [1814, 2537], 'EH,': [1815, 2538], 'Massague': [1816], 'Elledge': [1820], 'SJ.': [1821], '2000.': [1822, 2152], 'Mutations': [1823, 2329, 2544], 'cause': [1826, 2336, 2553], 'NODAL': [1830], 'signalling': [1831], 'human': [1833, 1865, 2027, 2306, 2332, 2457, 2499, 2550, 2592], 'neural': [1834], 'axis': [1835], 'determination.': [1836], '25:': [1839], '205–': [1840], '208.': [1841], 'Iafrate': [1842], 'AJ,': [1843, 1995, 2464], 'Feuk': [1844, 2218], 'Rivera': [1846], 'MN,': [1847], 'Listewnik': [1848], 'ML,': [1849], 'Donahoe': [1850], 'PK,': [1851], 'Qi': [1852], 'Y,': [1853, 2384], 'SW,': [1855, 2295, 2323], 'Lee': [1856, 2290], 'C.': [1857], 'Detection': [1859, 2112], 'large-scale': [1861], 'variation': [1862, 2300, 2496], 'genome.': [1866, 2028, 2307, 2458, 2500, 2593], '36:': [1869, 2520], '949–': [1870], '951.': [1871], 'Koolen': [1872], 'DA,': [1873], 'Nillesen': [1874], 'WM,': [1875], 'Versteeg': [1876], 'MH,': [1877, 2227], 'Merkx': [1878], 'GF,': [1879], 'Knoers': [1880], 'NV,': [1881], 'Kets': [1882], 'Vermeer': [1884], 'van': [1886, 2369], 'Ravenswaaij': [1887], 'CM,': [1888], 'Kovel': [1890], 'Brunner': [1892], 'HG,': [1893], 'Smeets': [1894], 'Vries': [1897], 'BB,': [1898], 'Sistermans': [1899], 'EA.': [1900], 'Screening': [1902], '210': [1907], 'unexplained': [1910], 'mental': [1911, 2395], 'retardation': [1912, 2396], 'dependent': [1916], 'probe': [1917, 2128, 2400], '(MLPA).': [1919, 2402], '41:': [1923], '892–': [1924], '899.': [1925], 'Laflamme': [1926], 'Filion': [1928], 'Labelle': [1930], 'Y.': [1931], 'Functional': [1933], 'characterization': [1934], 'SIX3': [1936, 2160, 2551], 'homeodomain': [1937, 2547], 'interaction': [1941], 'nuclear': [1944], 'receptor': [1945], 'NR4A3/NOR1.': [1946], '502–': [1950], '508.': [1951], 'Pintiere': [1967], 'AT,': [1968], 'S.': [1974, 2151], 'Phenotypic': [1976], 'molecular': [1978, 2083], 'variability': [1979], 'holoprosencephalic': [1982], 'spectrum.': [1983], 'A': [1988, 2153, 2186, 2583], '129:': [1989], '21–': [1990], '24.': [1991], 'Locke': [1992, 2465], 'DP,': [1993, 2466], 'Sharp': [1994, 2463], 'McCarroll': [1996], 'McGrath': [1998, 2467], 'SD,': [1999, 2468], 'Newman': [2000], 'TL,': [2001], 'Cheng': [2002, 2469, 2568], 'Z,': [2003, 2470, 2569], 'Schwartz': [2004, 2479], 'Albertson': [2006, 2485], 'DG,': [2007, 2486], 'Pinkel': [2008, 2487], 'Altshuler': [2010], 'DM,': [2011], 'Eichler': [2012, 2489, 2578], 'EE.': [2013, 2490], '2006.': [2014, 2298], 'Linkage': [2015], 'disequilibrium': [2016], 'heritability': [2018], 'copy-number': [2020, 2495, 2588], 'polymorphisms': [2021], 'within': [2022], 'duplicated': [2023], 'regions': [2024], '79:': [2033], '275–': [2034], '290.': [2035], 'Ming': [2036], 'JE,': [2037], 'Multiple': [2041], 'hits': [2042], 'during': [2043], 'early': [2044], 'embryonic': [2045], 'development:': [2046], 'digenic': [2047], 'diseases': [2048], '71:': [2055], '1017–': [2056], '1032.': [2057], 'Beachy': [2060], 'PA.': [2061], 'Holoprosencephaly.': [2063], 'In:': [2064], 'Scriver': [2065], 'CR,': [2066, 2251], 'Beaudet': [2067], 'Sly': [2069], 'WS,': [2070], 'Valle': [2071], 'Childs': [2073], 'Kinzler': [2075], 'Vogelstein': [2077], 'editors.': [2079], 'metabolic': [2081], 'bases': [2084], 'disease.': [2087], 'New': [2088], 'York:': [2089], 'McGraw-Hill': [2090], 'Companies,': [2091], 'p': [2093], '6203–6230.': [2094], 'Northrop': [2095], 'EL,': [2096], 'Ren': [2097], 'Bruno': [2099], 'DL,': [2100], 'McGhie': [2101], 'JD,': [2102], 'Coffa': [2103], 'Schouten': [2105], 'Choo': [2107], 'KH,': [2108], 'Slater': [2109], 'HR.': [2110], '2005.': [2111, 2491], 'abnormalities': [2117], 'anonymous': [2121], 'chromatin': [2122], 'ligation-dependent': [2127, 2399], 'assay.': [2131], '26:': [2134], '477–': [2135], '486.': [2136], 'Marec': [2146], 'new': [2154], 'six-domain': [2158], 'causes': [2162], '8:': [2168], '797–': [2169], '800.': [2170], 'Pastore': [2171], 'Caporaso': [2173], 'MG,': [2174], 'Frisso': [2175], 'Orsini': [2177], 'Santoro': [2179], 'Sacchetti': [2181], 'Salvatore': [2183], 'F.': [2184], 'polymerase': [2188], 'chain': [2189], 'reaction': [2190], '(PCR)': [2191], 'assay': [2192], 'completely': [2193], 'discriminates': [2194], 'Duchenne': [2196], 'Becker': [2198], 'muscular': [2199], 'dystrophy': [2200], 'deletion': [2201], 'carriers': [2202], 'females.': [2205], 'Cell': [2207], 'Probes': [2208], '129–': [2210], '137.': [2211], 'Redon': [2212], 'Ishikawa': [2214], 'Fitch': [2216], 'KR,': [2217], 'Perry': [2220], 'GH,': [2221], 'Andrews': [2222], 'TD,': [2223], 'Fiegler': [2224], 'Shapero': [2226], 'Carson': [2228], 'AR,': [2229], 'Chen': [2230], 'Cho': [2232], 'EK,': [2233], 'Dallaire': [2234], 'Freeman': [2236], 'JL,': [2237], 'Gonzalez': [2238], 'JR,': [2239, 2249], 'Gratacos': [2240], 'Huang': [2242], 'Kalaitzopoulos': [2244], 'Komura': [2246], 'MacDonald': [2248], 'Marshall': [2250], 'Mei': [2252], 'Montgomery': [2254], 'Nishimura': [2256], 'K,': [2257, 2259, 2317, 2437], 'Okamura': [2258], 'Shen': [2260], 'Somerville': [2262], 'MJ,': [2263], 'Tchinda': [2264], 'Valsesia': [2266], 'Woodwark': [2268], 'Yang': [2270], 'Zhang': [2272, 2276], 'Zerjal': [2274], 'Armengol': [2278], 'Conrad': [2280], 'Estivill': [2282], 'X,': [2283], 'Tyler-Smith': [2284], 'Carter': [2286], 'NP,': [2287], 'Aburatani': [2288], 'Jones': [2292], 'Hurles': [2296], 'ME.': [2297], 'Global': [2299], 'copy': [2302, 2452], 'number': [2303, 2453], 'Nature': [2308], '444:': [2309], '444–': [2310], '454.': [2311], 'Gaudenz': [2316], 'Jay': [2318], 'Berta': [2320], '357–': [2341], '360.': [2342], 'Holoprosencephaly:': [2348], 'paradigm': [2350], 'complex': [2353], 'genetics': [2354], 'development.': [2357], 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