Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W2162901262', 'doi': 'https://doi.org/10.1080/00207450601050089', 'title': 'DUPLICATION ANALYSIS IN TURKISH CHARCOT-MARIE-TOOTH TYPE 1A PATIENTS USING SHORT TANDEM REPEAT MARKERS', 'display_name': 'DUPLICATION ANALYSIS IN TURKISH CHARCOT-MARIE-TOOTH TYPE 1A PATIENTS USING SHORT TANDEM REPEAT MARKERS', 'publication_year': 2007, 'publication_date': '2007-01-01', 'ids': {'openalex': 'https://openalex.org/W2162901262', 'doi': 'https://doi.org/10.1080/00207450601050089', 'mag': '2162901262', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/17917930'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1080/00207450601050089', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S78190159', 'display_name': 'International Journal of Neuroscience', 'issn_l': '0020-7454', 'issn': ['0020-7454', '1543-5245', '1026-7085', '1563-5279'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320547', 'host_organization_name': 'Taylor & Francis', 'host_organization_lineage': ['https://openalex.org/P4310320547'], 'host_organization_lineage_names': ['Taylor & Francis'], '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/A5101401474', 'display_name': 'Filiz Koç', 'orcid': 'https://orcid.org/0000-0001-8594-7540'}, 'institutions': [{'id': 'https://openalex.org/I55931168', 'display_name': 'Cukurova University', 'ror': 'https://ror.org/05wxkj555', 'country_code': 'TR', 'type': 'education', 'lineage': ['https://openalex.org/I55931168']}], 'countries': ['TR'], 'is_corresponding': False, 'raw_author_name': 'FILIZ KOÇ', 'raw_affiliation_strings': ['Departments of Neurology, Cukurova University Medical School, Adana, Turkey'], 'affiliations': [{'raw_affiliation_string': 'Departments of Neurology, Cukurova University Medical School, Adana, Turkey', 'institution_ids': ['https://openalex.org/I55931168']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5023074481', 'display_name': 'Ali İrfan Güzel', 'orcid': 'https://orcid.org/0000-0002-9720-5920'}, 'institutions': [{'id': 'https://openalex.org/I55931168', 'display_name': 'Cukurova University', 'ror': 'https://ror.org/05wxkj555', 'country_code': 'TR', 'type': 'education', 'lineage': ['https://openalex.org/I55931168']}], 'countries': ['TR'], 'is_corresponding': False, 'raw_author_name': 'ALI IRFAN GÜZEL', 'raw_affiliation_strings': ['Department of Medical Biology and Genetics, Cukurova University Medical School, Adana, Turkey'], 'affiliations': [{'raw_affiliation_string': 'Department of Medical Biology and Genetics, Cukurova University Medical School, Adana, Turkey', 'institution_ids': ['https://openalex.org/I55931168']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5102832529', 'display_name': 'Yakup Sarıca', 'orcid': 'https://orcid.org/0000-0003-0062-0085'}, 'institutions': [{'id': 'https://openalex.org/I55931168', 'display_name': 'Cukurova University', 'ror': 'https://ror.org/05wxkj555', 'country_code': 'TR', 'type': 'education', 'lineage': ['https://openalex.org/I55931168']}], 'countries': ['TR'], 'is_corresponding': False, 'raw_author_name': 'YAKUP SARICA', 'raw_affiliation_strings': ['Departments of Neurology, Cukurova University Medical School, Adana, Turkey'], 'affiliations': [{'raw_affiliation_string': 'Departments of Neurology, Cukurova University Medical School, Adana, Turkey', 'institution_ids': ['https://openalex.org/I55931168']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5030326115', 'display_name': 'Halil Kasap', 'orcid': 'https://orcid.org/0000-0003-2545-3578'}, 'institutions': [{'id': 'https://openalex.org/I55931168', 'display_name': 'Cukurova University', 'ror': 'https://ror.org/05wxkj555', 'country_code': 'TR', 'type': 'education', 'lineage': ['https://openalex.org/I55931168']}], 'countries': ['TR'], 'is_corresponding': False, 'raw_author_name': 'HALIL KASAP', 'raw_affiliation_strings': ['Department of Medical Biology and Genetics, Cukurova University Medical School, Adana, Turkey'], 'affiliations': [{'raw_affiliation_string': 'Department of Medical Biology and Genetics, Cukurova University Medical School, Adana, Turkey', 'institution_ids': ['https://openalex.org/I55931168']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 1, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': None, 'apc_paid': None, 'fwci': 0.123, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 1, 'citation_normalized_percentile': {'value': 0.3312, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 63, 'max': 70}, 'biblio': {'volume': '117', 'issue': '11', 'first_page': '1611', 'last_page': '1619'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T12331', 'display_name': 'Hereditary Neurological Disorders', 'score': 1.0, 'subfield': {'id': 'https://openalex.org/subfields/2804', 'display_name': 'Cellular and Molecular Neuroscience'}, 'field': {'id': 'https://openalex.org/fields/28', 'display_name': 'Neuroscience'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, 'topics': [{'id': 'https://openalex.org/T12331', 'display_name': 'Hereditary Neurological Disorders', 'score': 1.0, 'subfield': {'id': 'https://openalex.org/subfields/2804', 'display_name': 'Cellular and Molecular Neuroscience'}, 'field': {'id': 'https://openalex.org/fields/28', 'display_name': 'Neuroscience'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/pathogenesis', 'display_name': 'Pathogenesis', 'score': 0.5407931}], 'concepts': [{'id': 'https://openalex.org/C7602840', 'wikidata': 'https://www.wikidata.org/wiki/Q746284', 'display_name': 'Gene duplication', 'level': 3, 'score': 0.8725427}, {'id': 'https://openalex.org/C143589142', 'wikidata': 'https://www.wikidata.org/wiki/Q2617554', 'display_name': 'Loss of heterozygosity', 'level': 4, 'score': 0.8035623}, {'id': 'https://openalex.org/C2781006897', 'wikidata': 'https://www.wikidata.org/wiki/Q18030619', 'display_name': 'Peripheral myelin protein 22', 'level': 4, 'score': 0.6130807}, {'id': 'https://openalex.org/C156446351', 'wikidata': 'https://www.wikidata.org/wiki/Q7682435', 'display_name': 'Tandem exon duplication', 'level': 4, 'score': 0.59602445}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.5922236}, {'id': 'https://openalex.org/C49105822', 'wikidata': 'https://www.wikidata.org/wiki/Q176996', 'display_name': 'Polymerase chain reaction', 'level': 3, 'score': 0.57237685}, {'id': 'https://openalex.org/C180754005', 'wikidata': 'https://www.wikidata.org/wiki/Q80726', 'display_name': 'Allele', 'level': 3, 'score': 0.5722538}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.5426952}, {'id': 'https://openalex.org/C2780942790', 'wikidata': 'https://www.wikidata.org/wiki/Q372016', 'display_name': 'Pathogenesis', 'level': 2, 'score': 0.5407931}, {'id': 'https://openalex.org/C2778609137', 'wikidata': 'https://www.wikidata.org/wiki/Q105790271', 'display_name': 'Myelin', 'level': 3, 'score': 0.43267006}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.43046904}, {'id': 'https://openalex.org/C153911025', 'wikidata': 'https://www.wikidata.org/wiki/Q7202', 'display_name': 'Molecular biology', 'level': 1, 'score': 0.37954816}, {'id': 'https://openalex.org/C529278444', 'wikidata': 'https://www.wikidata.org/wiki/Q47273', 'display_name': 'Central nervous system', 'level': 2, 'score': 0.07435334}, {'id': 'https://openalex.org/C203014093', 'wikidata': 'https://www.wikidata.org/wiki/Q101929', 'display_name': 'Immunology', 'level': 1, 'score': 0.073100954}, {'id': 'https://openalex.org/C169760540', 'wikidata': 'https://www.wikidata.org/wiki/Q207011', 'display_name': 'Neuroscience', 'level': 1, 'score': 0.0}], 'mesh': [{'descriptor_ui': 'D002607', 'descriptor_name': 'Charcot-Marie-Tooth Disease', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D002886', 'descriptor_name': 'Chromosomes, Human, Pair 17', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D020440', 'descriptor_name': 'Gene Duplication', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D018895', 'descriptor_name': 'Microsatellite Repeats', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D009185', 'descriptor_name': 'Myelin Proteins', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D000483', 'descriptor_name': 'Alleles', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002607', 'descriptor_name': 'Charcot-Marie-Tooth Disease', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D004591', 'descriptor_name': 'Electrophoresis, Polyacrylamide Gel', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005819', 'descriptor_name': 'Genetic Markers', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006239', 'descriptor_name': 'Haplotypes', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006579', 'descriptor_name': 'Heterozygote', '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': 'D009185', 'descriptor_name': 'Myelin Proteins', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D016133', 'descriptor_name': 'Polymerase Chain Reaction', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 2, 'locations': [{'is_oa': False, 'landing_page_url': 'https://doi.org/10.1080/00207450601050089', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S78190159', 'display_name': 'International Journal of Neuroscience', 'issn_l': '0020-7454', 'issn': ['0020-7454', '1543-5245', '1026-7085', '1563-5279'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320547', 'host_organization_name': 'Taylor & Francis', 'host_organization_lineage': ['https://openalex.org/P4310320547'], 'host_organization_lineage_names': ['Taylor & Francis'], '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/17917930', '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': [], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 9, 'referenced_works': ['https://openalex.org/W1844980625', 'https://openalex.org/W1974361821', 'https://openalex.org/W2034584711', 'https://openalex.org/W2064713079', 'https://openalex.org/W2103256993', 'https://openalex.org/W2118094114', 'https://openalex.org/W2126888536', 'https://openalex.org/W2146046684', 'https://openalex.org/W2342224299'], 'related_works': ['https://openalex.org/W3185201469', 'https://openalex.org/W3142592327', 'https://openalex.org/W2398197611', 'https://openalex.org/W2120250745', 'https://openalex.org/W2106870860', 'https://openalex.org/W20477621', 'https://openalex.org/W2035898116', 'https://openalex.org/W1984349060', 'https://openalex.org/W1978469902', 'https://openalex.org/W1883409887'], 'abstract_inverted_index': {'Charcot-Marie-Tooth': [0], '(CMT)': [1], 'is': [2, 52, 157], 'a': [3, 9], 'common': [4], 'inherited': [5], 'peripheral': [6, 34], 'neuropathy': [7], 'with': [8], 'prevalence': [10], 'of': [11, 50, 60, 121, 140, 145, 162], '1': [12], 'in': [13, 126, 133, 164], '2,500.': [14], 'CMT': [15], 'has': [16], 'two': [17], 'distinct': [18], 'forms': [19], '(CMT1': [20], 'and': [21, 69, 97, 114, 142, 152, 173], 'CMT2)': [22], 'that': [23, 159], 'can': [24], 'be': [25, 55], 'identified': [26], 'electrophysiologically.': [27], 'A': [28], '1.5': [29], 'Mb': [30], 'tandem': [31, 83], 'microduplication': [32], 'including': [33], 'myelin': [35], 'protein': [36], '22': [37], 'gene': [38, 47], '(PMP22)': [39], 'on': [40, 99], 'chromosome': [41], '17p11.2-12': [42], 'causes': [43], 'CMT1A.': [44, 61], 'The': [45, 119], 'increased': [46], 'dosage': [48], 'effect': [49], 'PMP22': [51], 'thought': [53], 'to': [54], 'responsible': [56], 'for': [57, 77, 116], 'the': [58, 78, 100, 117, 127, 134], 'pathogenesis': [59], 'In': [62], 'this': [63], 'study,': [64], '39': [65], 'Turkish': [66, 165], 'CMT1A': [67, 166], 'patients': [68, 128, 167], '60': [70], 'unrelated': [71], 'control': [72, 135], 'samples': [73], 'had': [74], 'been': [75], 'examined': [76], 'duplication': [79, 122], 'using': [80, 171], 'polymorphic': [81], 'short': [82], 'repeat': [84], '(STR)': [85], 'markers.': [86], 'Seven': [87], 'STR': [88], 'marker': [89], 'sites': [90], '(AC005838-4A-,': [91], 'AC0013248-9A-,': [92], 'AC0013248-9B-,': [93], 'D17S2218,': [94], 'D17S2220,': [95, 150], 'D17S2227,': [96, 151], 'D17S2229)': [98, 153], 'duplicated': [101], 'region': [102], 'were': [103, 154, 168], 'amplified': [104], 'via': [105], 'polymerase': [106], 'chain': [107], 'reaction,': [108], 'electrophoresed': [109], 'through': [110], '8%': [111], 'polyacrilamide': [112], 'gel': [113], 'evaluated': [115], 'duplication.': [118], 'rate': [120], 'was': [123, 131], "92.3'": [124], '(36/39)': [125], 'whereas': [129], 'it': [130], 'zero': [132], 'samples.': [136], 'Allele': [137], 'distributions,': [138], 'number': [139], 'alleles': [141], 'heterozygosity': [143], 'values': [144], 'more': [146], 'informative': [147], 'markers': [148, 175], '(D17S2218,': [149], 'assessed.': [155], 'It': [156], 'found': [158], 'approximately': [160], '85%': [161], 'duplications': [163], 'depicted': [169], 'by': [170], 'D17S2220': [172], 'D17S2229': [174], 'together.': [176]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2162901262', 'counts_by_year': [], 'updated_date': '2024-12-12T17:19:22.412638', 'created_date': '2016-06-24'}