Publication Information

{'id': 'https://openalex.org/W2083700082', 'doi': 'https://doi.org/10.1002/ajmg.1320510431', 'title': 'Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region', 'display_name': 'Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region', 'publication_year': 1994, 'publication_date': '1994-07-15', 'ids': {'openalex': 'https://openalex.org/W2083700082', 'doi': 'https://doi.org/10.1002/ajmg.1320510431', 'mag': '2083700082', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/7943018'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1002/ajmg.1320510431', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4210224978', 'display_name': 'American Journal of Medical Genetics', 'issn_l': '0148-7299', 'issn': ['0148-7299', '1096-8628'], '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/A5004447443', 'display_name': 'Yvon Trottier', 'orcid': 'https://orcid.org/0000-0001-7230-4810'}, 'institutions': [{'id': 'https://openalex.org/I154526488', 'display_name': 'Inserm', 'ror': 'https://ror.org/02vjkv261', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488']}, {'id': 'https://openalex.org/I1294671590', 'display_name': 'Centre National de la Recherche Scientifique', 'ror': 'https://ror.org/02feahw73', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I1294671590']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Yvon Trottier', 'raw_affiliation_strings': ['LGME/CNRS and INSERM U184, Institut de Chimie Biologique, Faculté de Médecine et Centre Hospitalier Régional Universitaire, Strasbourg, France'], 'affiliations': [{'raw_affiliation_string': 'LGME/CNRS and INSERM U184, Institut de Chimie Biologique, Faculté de Médecine et Centre Hospitalier Régional Universitaire, Strasbourg, France', 'institution_ids': ['https://openalex.org/I154526488', 'https://openalex.org/I1294671590']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5114250571', 'display_name': 'Georges Imbert', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I154526488', 'display_name': 'Inserm', 'ror': 'https://ror.org/02vjkv261', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488']}, {'id': 'https://openalex.org/I1294671590', 'display_name': 'Centre National de la Recherche Scientifique', 'ror': 'https://ror.org/02feahw73', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I1294671590']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Georges Imbert', 'raw_affiliation_strings': ['LGME/CNRS and INSERM U184, Institut de Chimie Biologique, Faculté de Médecine et Centre Hospitalier Régional Universitaire, Strasbourg, France'], 'affiliations': [{'raw_affiliation_string': 'LGME/CNRS and INSERM U184, Institut de Chimie Biologique, Faculté de Médecine et Centre Hospitalier Régional Universitaire, Strasbourg, France', 'institution_ids': ['https://openalex.org/I154526488', 'https://openalex.org/I1294671590']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5111925386', 'display_name': 'Annemarie Poustka', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210151100', 'display_name': 'DKFZ-ZMBH Alliance', 'ror': 'https://ror.org/05x8b4491', 'country_code': 'DE', 'type': 'facility', 'lineage': ['https://openalex.org/I1305996414', 'https://openalex.org/I17937529', 'https://openalex.org/I223822909', 'https://openalex.org/I4210151100']}, {'id': 'https://openalex.org/I17937529', 'display_name': 'German Cancer Research Center', 'ror': 'https://ror.org/04cdgtt98', 'country_code': 'DE', 'type': 'facility', 'lineage': ['https://openalex.org/I1305996414', 'https://openalex.org/I17937529']}], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'Annemarie Poustka', 'raw_affiliation_strings': ['Deutsches Krebsforschungszentrum, Institut 06, Heidelberg, Germany'], 'affiliations': [{'raw_affiliation_string': 'Deutsches Krebsforschungszentrum, Institut 06, Heidelberg, Germany', 'institution_ids': ['https://openalex.org/I4210151100', 'https://openalex.org/I17937529']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5107521405', 'display_name': 'Jean‐Pierre Fryns', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2800231306', 'display_name': 'Universitair Ziekenhuis Leuven', 'ror': 'https://ror.org/0424bsv16', 'country_code': 'BE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2800231306']}], 'countries': ['BE'], 'is_corresponding': False, 'raw_author_name': 'Jean‐Pierre Fryns', 'raw_affiliation_strings': ['Centrum voor Menselijke Erfelijkheid, Universitaire Ziekenhuizen, Leuven, Belgium'], 'affiliations': [{'raw_affiliation_string': 'Centrum voor Menselijke Erfelijkheid, Universitaire Ziekenhuizen, Leuven, Belgium', 'institution_ids': ['https://openalex.org/I2800231306']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5009591144', 'display_name': 'Jean‐Louis Mandel', 'orcid': 'https://orcid.org/0000-0002-0535-6589'}, 'institutions': [{'id': 'https://openalex.org/I1294671590', 'display_name': 'Centre National de la Recherche Scientifique', 'ror': 'https://ror.org/02feahw73', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I1294671590']}, {'id': 'https://openalex.org/I154526488', 'display_name': 'Inserm', 'ror': 'https://ror.org/02vjkv261', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Jean‐Louis Mandel', 'raw_affiliation_strings': ['LGME/CNRS and INSERM U184, Institut de Chimie Biologique, Faculté de Médecine et Centre Hospitalier Régional Universitaire, Strasbourg, France'], 'affiliations': [{'raw_affiliation_string': 'LGME/CNRS and INSERM U184, Institut de Chimie Biologique, Faculté de Médecine et Centre Hospitalier Régional Universitaire, Strasbourg, France', 'institution_ids': ['https://openalex.org/I1294671590', 'https://openalex.org/I154526488']}]}], 'institution_assertions': [], 'countries_distinct_count': 3, 'institutions_distinct_count': 5, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': None, 'apc_paid': None, 'fwci': 3.428, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 58, 'citation_normalized_percentile': {'value': 0.785196, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 93, 'max': 94}, 'biblio': {'volume': '51', 'issue': '4', 'first_page': '454', 'last_page': '457'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T11772', 'display_name': 'Genetics and Neurodevelopmental Disorders', 'score': 1.0, '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/T11772', 'display_name': 'Genetics and Neurodevelopmental Disorders', 'score': 1.0, '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/T10106', 'display_name': 'Autism Spectrum Disorder Research', 'score': 0.9791, 'subfield': {'id': 'https://openalex.org/subfields/2805', 'display_name': 'Cognitive 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/fmr1', 'display_name': 'FMR1', 'score': 0.7755193}, {'id': 'https://openalex.org/keywords/fragile-x-syndrome', 'display_name': 'Fragile X Syndrome', 'score': 0.75838864}], 'concepts': [{'id': 'https://openalex.org/C2779063550', 'wikidata': 'https://www.wikidata.org/wiki/Q905435', 'display_name': 'FMR1', 'level': 4, 'score': 0.7755193}, {'id': 'https://openalex.org/C127716648', 'wikidata': 'https://www.wikidata.org/wiki/Q104053', 'display_name': 'Phenotype', 'level': 3, 'score': 0.7689422}, {'id': 'https://openalex.org/C2777630245', 'wikidata': 'https://www.wikidata.org/wiki/Q221472', 'display_name': 'Fragile X syndrome', 'level': 2, 'score': 0.75838864}, {'id': 'https://openalex.org/C191172861', 'wikidata': 'https://www.wikidata.org/wiki/Q7899321', 'display_name': 'Upstream (networking)', 'level': 2, 'score': 0.7052744}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.70147467}, {'id': 'https://openalex.org/C3020422209', 'wikidata': 'https://www.wikidata.org/wiki/Q221472', 'display_name': 'Fragile x', 'level': 3, 'score': 0.6795553}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.55248123}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.54676294}, {'id': 'https://openalex.org/C41008148', 'wikidata': 'https://www.wikidata.org/wiki/Q21198', 'display_name': 'Computer science', 'level': 0, 'score': 0.14803818}, {'id': 'https://openalex.org/C76155785', 'wikidata': 'https://www.wikidata.org/wiki/Q418', 'display_name': 'Telecommunications', 'level': 1, 'score': 0.08658153}], 'mesh': [{'descriptor_ui': 'D005600', 'descriptor_name': 'Fragile X Syndrome', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D017353', 'descriptor_name': 'Gene Deletion', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D000328', 'descriptor_name': 'Adult', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D015139', 'descriptor_name': 'Blotting, Southern', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005600', 'descriptor_name': 'Fragile X Syndrome', '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': 'D008297', 'descriptor_name': 'Male', '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': 'D016133', 'descriptor_name': 'Polymerase Chain Reaction', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 4, 'locations': [{'is_oa': False, 'landing_page_url': 'https://doi.org/10.1002/ajmg.1320510431', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4210224978', 'display_name': 'American Journal of Medical Genetics', 'issn_l': '0148-7299', 'issn': ['0148-7299', '1096-8628'], '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://hal.archives-ouvertes.fr/hal-03504441', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306402512', 'display_name': 'HAL (Le Centre pour la Communication Scientifique Directe)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1294671590', 'host_organization_name': 'Centre National de la Recherche Scientifique', 'host_organization_lineage': ['https://openalex.org/I1294671590'], 'host_organization_lineage_names': ['Centre National de la Recherche Scientifique'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, {'is_oa': False, 'landing_page_url': 'https://hal.science/hal-03504441', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306402512', 'display_name': 'HAL (Le Centre pour la Communication Scientifique Directe)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1294671590', 'host_organization_name': 'Centre National de la Recherche Scientifique', 'host_organization_lineage': ['https://openalex.org/I1294671590'], 'host_organization_lineage_names': ['Centre National de la Recherche Scientifique'], 'type': 'repository'}, '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/7943018', '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': [{'score': 0.66, 'id': 'https://metadata.un.org/sdg/3', 'display_name': 'Good health and well-being'}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 16, 'referenced_works': ['https://openalex.org/W1683691009', 'https://openalex.org/W1982124514', 'https://openalex.org/W1989187665', 'https://openalex.org/W2002780348', 'https://openalex.org/W2029687941', 'https://openalex.org/W2039826611', 'https://openalex.org/W2047901053', 'https://openalex.org/W2051013729', 'https://openalex.org/W2052729310', 'https://openalex.org/W2073454505', 'https://openalex.org/W2075344525', 'https://openalex.org/W2084547117', 'https://openalex.org/W2110596072', 'https://openalex.org/W2139424308', 'https://openalex.org/W2149919973', 'https://openalex.org/W2326122757'], 'related_works': ['https://openalex.org/W4300497241', 'https://openalex.org/W4200447764', 'https://openalex.org/W2789548112', 'https://openalex.org/W2508482193', 'https://openalex.org/W223852733', 'https://openalex.org/W2129698270', 'https://openalex.org/W2105337953', 'https://openalex.org/W2096167627', 'https://openalex.org/W2085938114', 'https://openalex.org/W2083700082'], 'abstract_inverted_index': {'Abstract': [0], 'We': [1], 'report': [2], 'on': [3, 25], 'a': [4, 11, 34, 43], 'patient': [5, 29], 'with': [6, 16], 'moderate': [7], 'mental': [8], 'retardation': [9], 'and': [10, 20, 42, 61, 68], 'typical': [12], 'fragile': [13, 22, 79], 'X': [14, 23, 80], 'phenotype,': [15], 'no': [17, 21], 'family': [18], 'history': [19], 'site': [24], 'cytogenetic': [26], 'analysis.': [27], 'The': [28], 'was': [30], 'found': [31], 'to': [32], 'have': [33], 'deletion': [35, 54], 'encompassing': [36], 'part': [37], 'of': [38, 48, 77], 'the': [39, 49, 66, 70, 75, 78], 'FMR1': [40, 50, 64], 'gene': [41, 72], '70–100': [44], 'kb': [45], 'region': [46], 'upstream': [47], 'promotor': [51], 'region.': [52], 'This': [53], 'is': [55, 65], 'smaller': [56], 'than': [57], 'those': [58], 'previously': [59], 'reported': [60], 'confirms': [62], 'that': [63], 'major': [67], 'probably': [69], 'only': [71], 'implicated': [73], 'in': [74], 'phenotype': [76], 'syndrome.': [81], '©': [82], '1994': [83], 'Wiley‐Liss,': [84], 'Inc.': [85]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2083700082', 'counts_by_year': [{'year': 2022, 'cited_by_count': 1}, {'year': 2021, 'cited_by_count': 1}, {'year': 2014, 'cited_by_count': 3}, {'year': 2012, 'cited_by_count': 1}], 'updated_date': '2024-12-15T21:43:58.471407', 'created_date': '2016-06-24'}