Monozygotic twins of Rubinstein–Taybi syndrome discordant for glaucoma

Name: Work Video:
Duration: 3 min 30 s
Rika Kosaki; Hideki Fujita; Hazuki Takada; Michiyo Okada; Chiharu Torii; Kenjiro Kosaki
{'id': 'https://openalex.org/W2122759875', 'doi': 'https://doi.org/10.1002/ajmg.a.33967', 'title': 'Monozygotic twins of Rubinstein–Taybi syndrome discordant for glaucoma', 'display_name': 'Monozygotic twins of Rubinstein–Taybi syndrome discordant for glaucoma', 'publication_year': 2011, 'publication_date': '2011-04-07', 'ids': {'openalex': 'https://openalex.org/W2122759875', 'doi': 'https://doi.org/10.1002/ajmg.a.33967', 'mag': '2122759875', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/21480480'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1002/ajmg.a.33967', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S180901878', 'display_name': 'American Journal of Medical Genetics Part A', 'issn_l': '1552-4825', 'issn': ['1552-4825', '1552-4833'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320595', 'host_organization_name': 'Wiley', 'host_organization_lineage': ['https://openalex.org/P4310320595'], 'host_organization_lineage_names': ['Wiley'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': False, 'oa_status': 'closed', 'oa_url': None, 'any_repository_has_fulltext': False}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5026794757', 'display_name': 'Rika Kosaki', 'orcid': 'https://orcid.org/0000-0002-4367-6129'}, 'institutions': [{'id': 'https://openalex.org/I4210132193', 'display_name': 'National Center For Child Health and Development', 'ror': 'https://ror.org/03fvwxc59', 'country_code': 'JP', 'type': 'government', 'lineage': ['https://openalex.org/I4210132193']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Rika Kosaki', 'raw_affiliation_strings': ['Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan'], 'affiliations': [{'raw_affiliation_string': 'Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan', 'institution_ids': ['https://openalex.org/I4210132193']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5081771204', 'display_name': 'Hideki Fujita', 'orcid': 'https://orcid.org/0000-0001-8657-0618'}, 'institutions': [{'id': 'https://openalex.org/I4210132193', 'display_name': 'National Center For Child Health and Development', 'ror': 'https://ror.org/03fvwxc59', 'country_code': 'JP', 'type': 'government', 'lineage': ['https://openalex.org/I4210132193']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Hideki Fujita', 'raw_affiliation_strings': ['Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan'], 'affiliations': [{'raw_affiliation_string': 'Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan', 'institution_ids': ['https://openalex.org/I4210132193']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5008990789', 'display_name': 'Hazuki Takada', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210132193', 'display_name': 'National Center For Child Health and Development', 'ror': 'https://ror.org/03fvwxc59', 'country_code': 'JP', 'type': 'government', 'lineage': ['https://openalex.org/I4210132193']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Hazuki Takada', 'raw_affiliation_strings': ['Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan'], 'affiliations': [{'raw_affiliation_string': 'Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan', 'institution_ids': ['https://openalex.org/I4210132193']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5110266284', 'display_name': 'Michiyo Okada', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210132193', 'display_name': 'National Center For Child Health and Development', 'ror': 'https://ror.org/03fvwxc59', 'country_code': 'JP', 'type': 'government', 'lineage': ['https://openalex.org/I4210132193']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Michiyo Okada', 'raw_affiliation_strings': ['Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan'], 'affiliations': [{'raw_affiliation_string': 'Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan', 'institution_ids': ['https://openalex.org/I4210132193']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5002397415', 'display_name': 'Chiharu Torii', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I203951103', 'display_name': 'Keio University', 'ror': 'https://ror.org/02kn6nx58', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I203951103']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Chiharu Torii', 'raw_affiliation_strings': ['Dept. of Pediatrics, Keio Univ. School of Medicine, Tokyo, Japan.'], 'affiliations': [{'raw_affiliation_string': 'Dept. of Pediatrics, Keio Univ. School of Medicine, Tokyo, Japan.', 'institution_ids': ['https://openalex.org/I203951103']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5088798513', 'display_name': 'Kenjiro Kosaki', 'orcid': 'https://orcid.org/0000-0002-6798-8151'}, 'institutions': [{'id': 'https://openalex.org/I203951103', 'display_name': 'Keio University', 'ror': 'https://ror.org/02kn6nx58', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I203951103']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Kenjiro Kosaki', 'raw_affiliation_strings': ['Dept. of Pediatrics, Keio Univ. School of Medicine, Tokyo, Japan.'], 'affiliations': [{'raw_affiliation_string': 'Dept. of Pediatrics, Keio Univ. School of Medicine, Tokyo, Japan.', 'institution_ids': ['https://openalex.org/I203951103']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 2, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': None, 'apc_paid': None, 'fwci': 0.181, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 6, 'citation_normalized_percentile': {'value': 0.573787, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 81, 'max': 82}, 'biblio': {'volume': '155', 'issue': '5', 'first_page': '1189', 'last_page': '1191'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T13107', 'display_name': 'Congenital limb and hand anomalies', 'score': 0.9999, 'subfield': {'id': 'https://openalex.org/subfields/1309', 'display_name': 'Developmental Biology'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, 'topics': [{'id': 'https://openalex.org/T13107', 'display_name': 'Congenital limb and hand anomalies', 'score': 0.9999, 'subfield': {'id': 'https://openalex.org/subfields/1309', 'display_name': 'Developmental Biology'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, {'id': 'https://openalex.org/T11213', 'display_name': 'Genomic variations and chromosomal abnormalities', 'score': 0.941, 'subfield': {'id': 'https://openalex.org/subfields/1311', 'display_name': 'Genetics'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, {'id': 'https://openalex.org/T10434', 'display_name': 'Chromosomal and Genetic Variations', 'score': 0.906, 'subfield': {'id': 'https://openalex.org/subfields/1110', 'display_name': 'Plant Science'}, 'field': {'id': 'https://openalex.org/fields/11', 'display_name': 'Agricultural and Biological Sciences'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/fujita-scale', 'display_name': 'Fujita scale', 'score': 0.8824681}, {'id': 'https://openalex.org/keywords/medical-genetics', 'display_name': 'Medical genetics', 'score': 0.7680861}], 'concepts': [{'id': 'https://openalex.org/C22891489', 'wikidata': 'https://www.wikidata.org/wiki/Q380770', 'display_name': 'Fujita scale', 'level': 2, 'score': 0.8824681}, {'id': 'https://openalex.org/C64474127', 'wikidata': 'https://www.wikidata.org/wiki/Q1071953', 'display_name': 'Medical genetics', 'level': 3, 'score': 0.7680861}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.43163216}, {'id': 'https://openalex.org/C512399662', 'wikidata': 'https://www.wikidata.org/wiki/Q3505712', 'display_name': 'Family medicine', 'level': 1, 'score': 0.42883128}, {'id': 'https://openalex.org/C74909509', 'wikidata': 'https://www.wikidata.org/wiki/Q10387', 'display_name': 'Gerontology', 'level': 1, 'score': 0.38647124}, {'id': 'https://openalex.org/C161191863', 'wikidata': 'https://www.wikidata.org/wiki/Q199655', 'display_name': 'Library science', 'level': 1, 'score': 0.3727828}, {'id': 'https://openalex.org/C187212893', 'wikidata': 'https://www.wikidata.org/wiki/Q123028', 'display_name': 'Pediatrics', 'level': 1, 'score': 0.3443752}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.25933915}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.16477734}, {'id': 'https://openalex.org/C205649164', 'wikidata': 'https://www.wikidata.org/wiki/Q1071', 'display_name': 'Geography', 'level': 0, 'score': 0.14246196}, {'id': 'https://openalex.org/C153294291', 'wikidata': 'https://www.wikidata.org/wiki/Q25261', 'display_name': 'Meteorology', 'level': 1, 'score': 0.0}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.0}, {'id': 'https://openalex.org/C41008148', 'wikidata': 'https://www.wikidata.org/wiki/Q21198', 'display_name': 'Computer science', 'level': 0, 'score': 0.0}], 'mesh': [{'descriptor_ui': 'D005901', 'descriptor_name': 'Glaucoma', 'qualifier_ui': 'Q000150', 'qualifier_name': 'complications', 'is_major_topic': True}, {'descriptor_ui': 'D012415', 'descriptor_name': 'Rubinstein-Taybi Syndrome', 'qualifier_ui': 'Q000150', 'qualifier_name': 'complications', 'is_major_topic': True}, {'descriptor_ui': 'D014430', 'descriptor_name': 'Twins, Monozygotic', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D002648', 'descriptor_name': 'Child', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002675', 'descriptor_name': 'Child, Preschool', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D055028', 'descriptor_name': 'Comparative Genomic Hybridization', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D019066', 'descriptor_name': 'Facies', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005901', 'descriptor_name': 'Glaucoma', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006801', 'descriptor_name': 'Humans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D007223', 'descriptor_name': 'Infant', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D007231', 'descriptor_name': 'Infant, Newborn', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008297', 'descriptor_name': 'Male', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D012415', 'descriptor_name': 'Rubinstein-Taybi Syndrome', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D012415', 'descriptor_name': 'Rubinstein-Taybi Syndrome', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 2, 'locations': [{'is_oa': False, 'landing_page_url': 'https://doi.org/10.1002/ajmg.a.33967', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S180901878', 'display_name': 'American Journal of Medical Genetics Part A', 'issn_l': '1552-4825', 'issn': ['1552-4825', '1552-4833'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320595', 'host_organization_name': 'Wiley', 'host_organization_lineage': ['https://openalex.org/P4310320595'], 'host_organization_lineage_names': ['Wiley'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/21480480', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306525036', 'display_name': 'PubMed', 'issn_l': None, 'issn': None, 'is_oa': False, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}], 'best_oa_location': None, 'sustainable_development_goals': [{'display_name': 'Partnerships for the goals', 'score': 0.54, 'id': 'https://metadata.un.org/sdg/17'}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 17, 'referenced_works': ['https://openalex.org/W1964013868', 'https://openalex.org/W1970416563', 'https://openalex.org/W1986837588', 'https://openalex.org/W2022809398', 'https://openalex.org/W2027086452', 'https://openalex.org/W2033915693', 'https://openalex.org/W2053415205', 'https://openalex.org/W2053556690', 'https://openalex.org/W2082015752', 'https://openalex.org/W2084014102', 'https://openalex.org/W2084911372', 'https://openalex.org/W2106306148', 'https://openalex.org/W2142011909', 'https://openalex.org/W2396183785', 'https://openalex.org/W2413871551', 'https://openalex.org/W2427012849', 'https://openalex.org/W2552920066'], 'related_works': ['https://openalex.org/W4386854159', 'https://openalex.org/W4320019603', 'https://openalex.org/W3156230987', 'https://openalex.org/W3091739816', 'https://openalex.org/W2295646491', 'https://openalex.org/W2264833658', 'https://openalex.org/W2149763338', 'https://openalex.org/W2149185695', 'https://openalex.org/W2122759875', 'https://openalex.org/W2019042919'], 'abstract_inverted_index': {'American': [0], 'Journal': [1], 'of': [2, 16, 33, 45, 71, 93, 115, 137, 142, 156, 161, 182, 194, 220, 242, 264, 286, 291, 305, 310, 348, 384, 394, 407, 418], 'Medical': [3, 34, 46, 72, 94, 116, 183, 195, 221, 243, 265], 'Genetics': [4], 'Part': [5, 358], 'AVolume': [6], '155,': [7], 'Issue': [8], '5': [9], 'p.': [10], '1189-1191': [11, 444], 'Research': [12], 'Letter': [13], 'Monozygotic': [14, 346], 'twins': [15, 347], 'Rubinstein–Taybi': [17, 349], 'syndrome': [18, 350], 'discordant': [19, 351], 'for': [20, 38, 50, 61, 76, 83, 98, 105, 120, 127, 146, 165, 187, 199, 210, 225, 232, 247, 254, 269, 276, 295, 314, 352, 437], 'glaucoma†': [21], 'Rika': [22, 27, 171, 176], 'Kosaki': [23, 28, 154, 172, 177, 303, 333, 343], 'M.D.,': [24, 173], 'Corresponding': [25, 174], 'Author': [26, 175], 'M.D.': [29, 178], '[email': [30, 179], 'protected]': [31, 180], 'Division': [32, 70, 92, 114, 181, 219, 241, 263], 'Genetics,': [35, 47, 73, 95, 117, 184, 196, 222, 244, 266], 'National': [36, 48, 74, 96, 118, 185, 197, 223, 245, 267], 'Center': [37, 49, 75, 97, 119, 186, 198, 224, 246, 268], 'Child': [39, 51, 77, 99, 121, 188, 200, 226, 248, 270], 'Health': [40, 52, 78, 100, 122, 189, 201, 227, 249, 271], 'and': [41, 53, 79, 101, 123, 190, 202, 228, 250, 272, 382, 386, 398, 405, 424], 'Development,': [42, 54, 80, 102, 124, 191, 203, 229, 251, 273], 'Tokyo,': [43, 81, 103, 125, 144, 163, 192, 230, 252, 274, 293, 312], 'JapanDivision': [44, 193], '2-10-1': [55, 204], 'Okura,': [56, 205], 'Setagaya-ku,': [57, 206], 'Tokyo': [58, 207], '157-8535,': [59, 208], 'Japan.Search': [60, 209], 'more': [62, 84, 106, 128, 147, 166, 211, 233, 255, 277, 296, 315], 'papers': [63, 85, 107, 129, 148, 167, 212, 234, 256, 278, 297, 316], 'by': [64, 86, 108, 130, 149, 168, 213, 235, 257, 279, 298, 317], 'this': [65, 87, 109, 131, 150, 169, 214, 236, 258, 280, 299, 318, 331, 419, 438], 'authorHideki': [66, 215], 'Fujita,': [67, 216], 'Hideki': [68, 217], 'Fujita': [69, 218, 335], 'JapanSearch': [82, 104, 126, 145, 164, 231, 253, 275, 294, 313], 'authorHazuki': [88, 237], 'Takada,': [89, 238], 'Hazuki': [90, 239], 'Takada': [91, 240, 337], 'authorMichiyo': [110, 259], 'Okada,': [111, 260], 'Michiyo': [112, 261], 'Okada': [113, 262, 339], 'authorChiharu': [132, 281], 'Torii,': [133, 282], 'Chiharu': [134, 283], 'Torii': [135, 284, 341], 'Department': [136, 155, 285, 304], 'Pediatrics,': [138, 157, 287, 306], 'Keio': [139, 158, 288, 307], 'University': [140, 159, 289, 308], 'School': [141, 160, 290, 309], 'Medicine,': [143, 162, 292, 311], 'authorKenjiro': [151, 300], 'Kosaki,': [152, 301], 'Kenjiro': [153, 302], 'author': [170, 319], 'First': [320], 'published:': [321], '07': [322], 'April': [323], '2011': [324], 'https://doi.org/10.1002/ajmg.a.33967Citations:': [325], '4': [326], '†': [327], 'How': [328], 'to': [329, 368, 390, 413], 'Cite': [330], 'Article:': [332], 'R,': [334], 'H,': [336, 338], 'M,': [340], 'C,': [342], 'K.': [344], '2011.': [345], 'glaucoma.': [353], 'Am': [354], 'J': [355], 'Med': [356], 'Genet': [357], 'A': [359], '155:1189–1191.': [360], 'Read': [361], 'the': [362, 400, 410], 'full': [363, 374], 'textAboutPDF': [364], 'ToolsRequest': [365], 'permissionExport': [366], 'citationAdd': [367], 'favoritesTrack': [369], 'citation': [370], 'ShareShare': [371], 'Give': [372], 'accessShare': [373, 376], 'text': [375], 'full-text': [377, 392, 416], 'accessPlease': [378], 'review': [379], 'our': [380], 'Terms': [381, 404], 'Conditions': [383, 406], 'Use': [385], 'check': [387], 'box': [388], 'below': [389, 412], 'share': [391, 414], 'version': [393, 417], 'article.I': [395], 'have': [396], 'read': [397], 'accept': [399], 'Wiley': [401], 'Online': [402], 'Library': [403], 'UseShareable': [408], 'LinkUse': [409], 'link': [411], 'a': [415, 430], 'article': [420], 'with': [421], 'your': [422], 'friends': [423], 'colleagues.': [425], 'Learn': [426], 'more.Copy': [427], 'URL': [428], 'Share': [429], 'linkShare': [431], 'onFacebookTwitterLinkedInRedditWechat': [432], 'No': [433], 'abstract': [434], 'is': [435], 'available': [436], 'article.Citing': [439], 'Literature': [440], 'Volume155,': [441], 'Issue5May': [442], '2011Pages': [443], 'RelatedInformation': [445]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2122759875', 'counts_by_year': [{'year': 2024, 'cited_by_count': 1}, {'year': 2023, 'cited_by_count': 1}, {'year': 2020, 'cited_by_count': 1}, {'year': 2016, 'cited_by_count': 1}, {'year': 2015, 'cited_by_count': 1}, {'year': 2014, 'cited_by_count': 1}], 'updated_date': '2024-12-18T06:50:01.730559', 'created_date': '2016-06-24'}
Publication Information

Basic Information

Access and Citation

AI Researcher Chatbot

Primary Location

Authors

Topics

Keywords

Related Works
