Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W2086203699', 'doi': 'https://doi.org/10.1111/j.1399-0004.1998.tb03694.x', 'title': 'Phenotypic and genotypic variability in monozygotic triplets with Turner syndrome', 'display_name': 'Phenotypic and genotypic variability in monozygotic triplets with Turner syndrome', 'publication_year': 1998, 'publication_date': '1998-07-01', 'ids': {'openalex': 'https://openalex.org/W2086203699', 'doi': 'https://doi.org/10.1111/j.1399-0004.1998.tb03694.x', 'mag': '2086203699', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/9727741'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1111/j.1399-0004.1998.tb03694.x', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4954800', 'display_name': 'Clinical Genetics', 'issn_l': '0009-9163', 'issn': ['0009-9163', '1399-0004'], '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/A5042227252', 'display_name': 'J. Lespinasse', 'orcid': 'https://orcid.org/0000-0002-7157-2394'}, 'institutions': [{'id': 'https://openalex.org/I4210109185', 'display_name': 'Centre Hospitalier Métropole Savoie', 'ror': 'https://ror.org/01r35jx22', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210109185']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'J. Lespinasse', 'raw_affiliation_strings': ['Laboratoire de Cytogénétique, Centre hospitalier de Chambéry, 73000 Chambéry'], 'affiliations': [{'raw_affiliation_string': 'Laboratoire de Cytogénétique, Centre hospitalier de Chambéry, 73000 Chambéry', 'institution_ids': ['https://openalex.org/I4210109185']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5087652726', 'display_name': 'Christine Gicquel', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210086685', 'display_name': 'Hôpital Armand-Trousseau', 'ror': 'https://ror.org/00yfbr841', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210086685', 'https://openalex.org/I4210097159']}, {'id': 'https://openalex.org/I39804081', 'display_name': 'Sorbonne Université', 'ror': 'https://ror.org/02en5vm52', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I39804081']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'C. Gicquel', 'raw_affiliation_strings': ["Laboratoire d'Exploration Fonctionnelles Endocriniennes et Unité de Biologie Moléculaire, Hǒpital Trousseau. 75012 Paris"], 'affiliations': [{'raw_affiliation_string': "Laboratoire d'Exploration Fonctionnelles Endocriniennes et Unité de Biologie Moléculaire, Hǒpital Trousseau. 75012 Paris", 'institution_ids': ['https://openalex.org/I4210086685', 'https://openalex.org/I39804081']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5004940928', 'display_name': 'M Robert', 'orcid': 'https://orcid.org/0000-0002-1337-0858'}, 'institutions': [{'id': 'https://openalex.org/I4210109185', 'display_name': 'Centre Hospitalier Métropole Savoie', 'ror': 'https://ror.org/01r35jx22', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210109185']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'M. Robert', 'raw_affiliation_strings': ["Departement d'Endocrinologie, Centre hospitalier de Chambéry, 73000 Chambery, France"], 'affiliations': [{'raw_affiliation_string': "Departement d'Endocrinologie, Centre hospitalier de Chambéry, 73000 Chambery, France", 'institution_ids': ['https://openalex.org/I4210109185']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5038778756', 'display_name': 'Yves Le Bouc', 'orcid': 'https://orcid.org/0000-0002-1017-5002'}, 'institutions': [{'id': 'https://openalex.org/I39804081', 'display_name': 'Sorbonne Université', 'ror': 'https://ror.org/02en5vm52', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I39804081']}, {'id': 'https://openalex.org/I4210086685', 'display_name': 'Hôpital Armand-Trousseau', 'ror': 'https://ror.org/00yfbr841', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210086685', 'https://openalex.org/I4210097159']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Y. Le Bouc', 'raw_affiliation_strings': ["Laboratoire d'Exploration Fonctionnelles Endocriniennes et Unité de Biologie Moléculaire, Hǒpital Trousseau. 75012 Paris"], 'affiliations': [{'raw_affiliation_string': "Laboratoire d'Exploration Fonctionnelles Endocriniennes et Unité de Biologie Moléculaire, Hǒpital Trousseau. 75012 Paris", 'institution_ids': ['https://openalex.org/I39804081', 'https://openalex.org/I4210086685']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 3, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': {'value': 4740, 'currency': 'USD', 'value_usd': 4740, 'provenance': 'doaj'}, 'apc_paid': None, 'fwci': 0.359, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 26, 'citation_normalized_percentile': {'value': 0.733681, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 86, 'max': 87}, 'biblio': {'volume': '54', 'issue': '1', 'first_page': '56', 'last_page': '59'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T11077', 'display_name': 'Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities', 'score': 0.9996, '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'}}, 'topics': [{'id': 'https://openalex.org/T11077', 'display_name': 'Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities', 'score': 0.9996, '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': 0.985, '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'}}, {'id': 'https://openalex.org/T10116', 'display_name': 'Sperm and Testicular Function', 'score': 0.9579, 'subfield': {'id': 'https://openalex.org/subfields/2743', 'display_name': 'Reproductive Medicine'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/turners-syndrome', 'display_name': "Turner's syndrome", 'score': 0.43650687}], 'concepts': [{'id': 'https://openalex.org/C53226629', 'wikidata': 'https://www.wikidata.org/wiki/Q189967', 'display_name': 'Karyotype', 'level': 4, 'score': 0.93209577}, {'id': 'https://openalex.org/C2779683239', 'wikidata': 'https://www.wikidata.org/wiki/Q202849', 'display_name': 'Turner syndrome', 'level': 2, 'score': 0.83781767}, {'id': 'https://openalex.org/C127716648', 'wikidata': 'https://www.wikidata.org/wiki/Q104053', 'display_name': 'Phenotype', 'level': 3, 'score': 0.6725699}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.5747346}, {'id': 'https://openalex.org/C135763542', 'wikidata': 'https://www.wikidata.org/wiki/Q106016', 'display_name': 'Genotype', 'level': 3, 'score': 0.5658913}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.52826536}, {'id': 'https://openalex.org/C35158069', 'wikidata': 'https://www.wikidata.org/wiki/Q61333', 'display_name': 'X chromosome', 'level': 3, 'score': 0.49777415}, {'id': 'https://openalex.org/C2910742204', 'wikidata': 'https://www.wikidata.org/wiki/Q202849', 'display_name': "Turner's syndrome", 'level': 3, 'score': 0.43650687}, {'id': 'https://openalex.org/C30481170', 'wikidata': 'https://www.wikidata.org/wiki/Q37748', 'display_name': 'Chromosome', 'level': 3, 'score': 0.36033517}, {'id': 'https://openalex.org/C134018914', 'wikidata': 'https://www.wikidata.org/wiki/Q162606', 'display_name': 'Endocrinology', 'level': 1, 'score': 0.346594}, {'id': 'https://openalex.org/C126322002', 'wikidata': 'https://www.wikidata.org/wiki/Q11180', 'display_name': 'Internal medicine', 'level': 1, 'score': 0.33890846}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.25218564}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.0805918}], 'mesh': [{'descriptor_ui': 'D014644', 'descriptor_name': 'Genetic Variation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D014310', 'descriptor_name': 'Triplets', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D014424', 'descriptor_name': 'Turner Syndrome', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D000293', 'descriptor_name': 'Adolescent', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000328', 'descriptor_name': 'Adult', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005260', 'descriptor_name': 'Female', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005838', 'descriptor_name': 'Genotype', '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': 'D007621', 'descriptor_name': 'Karyotyping', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D009030', 'descriptor_name': 'Mosaicism', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D010641', 'descriptor_name': 'Phenotype', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D014310', 'descriptor_name': 'Triplets', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D014424', 'descriptor_name': 'Turner Syndrome', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D014960', 'descriptor_name': 'X Chromosome', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 2, 'locations': [{'is_oa': False, 'landing_page_url': 'https://doi.org/10.1111/j.1399-0004.1998.tb03694.x', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4954800', 'display_name': 'Clinical Genetics', 'issn_l': '0009-9163', 'issn': ['0009-9163', '1399-0004'], '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/9727741', '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': [{'id': 'https://metadata.un.org/sdg/3', 'display_name': 'Good health and well-being', 'score': 0.73}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 22, 'referenced_works': ['https://openalex.org/W125787385', 'https://openalex.org/W1606945037', 'https://openalex.org/W1964154683', 'https://openalex.org/W1966731401', 'https://openalex.org/W1972353027', 'https://openalex.org/W1985399196', 'https://openalex.org/W1997707092', 'https://openalex.org/W1998838077', 'https://openalex.org/W2000105382', 'https://openalex.org/W2012947573', 'https://openalex.org/W2022126521', 'https://openalex.org/W2034824188', 'https://openalex.org/W2035014221', 'https://openalex.org/W2038603447', 'https://openalex.org/W2049976179', 'https://openalex.org/W2051112456', 'https://openalex.org/W2052604868', 'https://openalex.org/W2073046276', 'https://openalex.org/W2079202252', 'https://openalex.org/W2093674042', 'https://openalex.org/W2095457819', 'https://openalex.org/W2108157166'], 'related_works': ['https://openalex.org/W2482444805', 'https://openalex.org/W2417400498', 'https://openalex.org/W2409473636', 'https://openalex.org/W2389866557', 'https://openalex.org/W2389119263', 'https://openalex.org/W2377344676', 'https://openalex.org/W2131825418', 'https://openalex.org/W2086203699', 'https://openalex.org/W2029011567', 'https://openalex.org/W1977062932'], 'abstract_inverted_index': {'Turner': [0, 71, 130], 'syndrome': [1, 131], '(TS)': [2], 'is': [3, 13], 'a': [4, 45, 69, 81, 90, 98, 119, 182], 'common': [5], 'disorder': [6], '(1/2500': [7], 'and': [8, 22, 47, 80, 123, 142, 157, 166], '1/5000': [9], 'female': [10], 'births)': [11], 'which': [12], 'diagnosed': [14], 'at': [15], 'birth': [16], 'in': [17, 162], 'approximately': [18], '20%': [19], 'of': [20, 35, 50, 56, 62, 95, 115, 129, 159], 'patients': [21, 163], 'during': [23], 'childhood': [24], '(usually': [25], 'due': [26], 'to': [27, 33, 181], 'growth': [28], 'retardation)': [29], 'or': [30], 'later,': [31], '(due': [32], 'lack': [34], 'pubertal': [36], 'development)': [37], 'for': [38, 60, 109], 'the': [39, 105, 110, 124, 145, 151, 186, 193], 'remaining': [40], 'patients.': [41], 'Here': [42], 'we': [43], 'present': [44], 'cytogenetic': [46], 'molecular': [48], 'analysis': [49, 103, 135, 184], 'three': [51], 'monozygotic': [52], 'sisters.': [53], 'The': [54], 'diagnosis': [55], 'TS': [57], 'was': [58, 76, 136], 'done': [59], 'one': [61, 114], 'them': [63, 116], '(patient': [64, 121, 132], '1)': [65], 'who': [66], 'presented': [67], 'with': [68, 93, 97, 150, 154, 192], 'typical': [70], 'phenotype.': [72, 195], 'A': [73], 'first': [74], 'karyotype': [75, 83, 102, 183], 'established': [77], 'as': [78], 'normal': [79], 'second': [82], '(carried': [84], 'out': [85], 'on': [86, 140], '200': [87], 'cells)': [88], 'revealed': [89], '45,X/46,XX': [91, 146], 'mosaicism': [92, 107, 147], '6%': [94], 'cells': [96, 161], '45,X': [99, 160], 'karyotype.': [100], 'Lymphocyte': [101], 'showed': [104, 143], 'same': [106], 'pattern': [108, 148], 'two': [111], 'other': [112, 125, 175], 'sisters,': [113], 'exhibiting': [117], 'only': [118], 'mild': [120], '2)': [122], 'no': [126], 'clinical': [127, 152, 194], 'features': [128], '3).': [133], 'Karyotype': [134], 'this': [137], 'time': [138], 'conducted': [139], 'fibroblasts': [141], 'that': [144, 172], 'correlated': [149], 'phenotype': [153], '99,': [155], '43': [156], '3%': [158], '1,': [164], '2,': [165], '3,': [167], 'respectively.': [168], 'These': [169], 'data': [170], 'suggest': [171], 'different': [173], 'tissues': [174], 'than': [176], 'lymphocytes': [177], 'should': [178], 'be': [179], 'subjected': [180], 'when': [185], 'observed': [187], 'genotype': [188], 'does': [189], 'not': [190], 'correlate': [191]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2086203699', 'counts_by_year': [{'year': 2023, 'cited_by_count': 2}, {'year': 2021, 'cited_by_count': 1}, {'year': 2018, 'cited_by_count': 1}, {'year': 2016, 'cited_by_count': 1}, {'year': 2015, 'cited_by_count': 2}, {'year': 2014, 'cited_by_count': 1}], 'updated_date': '2024-12-15T19:17:13.494196', 'created_date': '2016-06-24'}