{"id":"https://openalex.org/W2181572095","doi":null,"title":"GENETIC ASPECTS OF MALE INFERTILITY","display_name":"GENETIC ASPECTS OF MALE INFERTILITY","publication_year":2010,"publication_date":"2010-01-01","ids":{"openalex":"https://openalex.org/W2181572095","mag":"2181572095"},"language":"en","primary_location":{"id":"mag:2181572095","doi":null,"is_oa":false,"landing_page_url":"http://en.journals.sid.ir/ViewPaper.aspx?ID=441918","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null},"volume":null,"type":"article","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5015587679","display_name":"Paola Asero","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Paola Asero","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5015587679"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":8,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":97},"biblio":{"volume":"17","issue":null,"first_page":"1","last_page":"16"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10116","display_name":"Sperm and Testicular Function","score":0.9911999702453613,"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"}},"topics":[{"id":"https://openalex.org/T10116","display_name":"Sperm and Testicular Function","score":0.9911999702453613,"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"}},{"id":"https://openalex.org/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","score":0.004000000189989805,"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/T13242","display_name":"Male Reproductive Health Studies","score":0.0005000000237487257,"subfield":{"id":"https://openalex.org/subfields/2748","display_name":"Urology"},"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/male-infertility","display_name":"male infertility","score":0.9990000128746033},{"id":"https://openalex.org/keywords/genetic-causes-of-infertility","display_name":"genetic causes of infertility","score":0.9459999799728394},{"id":"https://openalex.org/keywords/azoospermia","display_name":"azoospermia","score":0.8899999856948853},{"id":"https://openalex.org/keywords/oligospermia","display_name":"oligozoospermia","score":0.9769999980926514},{"id":"https://openalex.org/keywords/klinefelter-syndrome","display_name":"Klinefelter syndrome","score":0.9860000014305115},{"id":"https://openalex.org/keywords/y-chromosome-microdeletion","display_name":"Y chromosome microdeletion","score":0.9409999847412109},{"id":"https://openalex.org/keywords/azf-region","display_name":"AZF region","score":0.8370000123977661},{"id":"https://openalex.org/keywords/spermatogenesis","display_name":"spermatogenesis","score":0.7730000019073486},{"id":"https://openalex.org/keywords/chromosomal-abnormalities","display_name":"chromosomal abnormalities","score":0.7310000061988831},{"id":"https://openalex.org/keywords/sex-chromosome-abnormalities","display_name":"sex chromosome abnormalities","score":0.6029999852180481},{"id":"https://openalex.org/keywords/cftr-mutations","display_name":"CFTR mutations","score":0.7260000109672546},{"id":"https://openalex.org/keywords/cystic-fibrosis","display_name":"cystic fibrosis","score":0.9520000219345093},{"id":"https://openalex.org/keywords/kal1","display_name":"KAL1","score":0.6510000228881836},{"id":"https://openalex.org/keywords/kallmann-syndrome","display_name":"Kallmann syndrome","score":0.9950000047683716},{"id":"https://openalex.org/keywords/androgen-receptor-mutations","display_name":"androgen receptor mutations","score":0.8930000066757202},{"id":"https://openalex.org/keywords/androgen-insensitivity-syndrome","display_name":"androgen insensitivity syndrome","score":0.9079999923706055},{"id":"https://openalex.org/keywords/cryptorchidism","display_name":"cryptorchidism","score":0.9890000224113464},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.4009999930858612},{"id":"https://openalex.org/keywords/infertility-diagnosis","display_name":"infertility diagnosis","score":0.6690000295639038}],"concepts":[{"id":"https://openalex.org/C2777420699","wikidata":"https://www.wikidata.org/wiki/Q794026","display_name":"Azoospermia","level":4,"score":0.794077455997467},{"id":"https://openalex.org/C2777338322","wikidata":"https://www.wikidata.org/wiki/Q280156","display_name":"Male infertility","level":4,"score":0.7687932252883911},{"id":"https://openalex.org/C2777688143","wikidata":"https://www.wikidata.org/wiki/Q179399","display_name":"Infertility","level":3,"score":0.6729270219802856},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5687594413757324},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4823576807975769},{"id":"https://openalex.org/C138626823","wikidata":"https://www.wikidata.org/wiki/Q916504","display_name":"Chromosomal translocation","level":3,"score":0.4354768991470337},{"id":"https://openalex.org/C2776314099","wikidata":"https://www.wikidata.org/wiki/Q207133","display_name":"Klinefelter syndrome","level":2,"score":0.41613566875457764},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.40105515718460083},{"id":"https://openalex.org/C29456083","wikidata":"https://www.wikidata.org/wiki/Q1221899","display_name":"Gynecology","level":1,"score":0.38328462839126587},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3715894818305969},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3483086824417114},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.192521870136261},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.18090271949768066}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:2181572095","doi":null,"is_oa":false,"landing_page_url":"http://en.journals.sid.ir/ViewPaper.aspx?ID=441918","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":68,"referenced_works":["https://openalex.org/W1844641992","https://openalex.org/W1969888072","https://openalex.org/W1974015011","https://openalex.org/W1978151850","https://openalex.org/W1984929097","https://openalex.org/W1985066436","https://openalex.org/W1985398262","https://openalex.org/W1989153414","https://openalex.org/W1998476721","https://openalex.org/W2013660548","https://openalex.org/W2016992316","https://openalex.org/W2019491357","https://openalex.org/W2023243075","https://openalex.org/W2024885627","https://openalex.org/W2028649975","https://openalex.org/W2029598464","https://openalex.org/W2033579939","https://openalex.org/W2037091593","https://openalex.org/W2039844764","https://openalex.org/W2040739419","https://openalex.org/W2044456487","https://openalex.org/W2046118584","https://openalex.org/W2047803717","https://openalex.org/W2050602600","https://openalex.org/W2052588826","https://openalex.org/W2055475516","https://openalex.org/W2056797128","https://openalex.org/W2069277865","https://openalex.org/W2071647309","https://openalex.org/W2072079162","https://openalex.org/W2075904348","https://openalex.org/W2077833546","https://openalex.org/W2081804379","https://openalex.org/W2082233801","https://openalex.org/W2082968284","https://openalex.org/W2083456821","https://openalex.org/W2092944184","https://openalex.org/W2097512118","https://openalex.org/W2101065984","https://openalex.org/W2101730299","https://openalex.org/W2103747935","https://openalex.org/W2112320299","https://openalex.org/W2112468159","https://openalex.org/W2112836820","https://openalex.org/W2113773171","https://openalex.org/W2116843165","https://openalex.org/W2117390359","https://openalex.org/W2121601964","https://openalex.org/W2121791548","https://openalex.org/W2122394651","https://openalex.org/W2122661016","https://openalex.org/W2130991360","https://openalex.org/W2131150291","https://openalex.org/W2138584967","https://openalex.org/W2139356242","https://openalex.org/W2140810913","https://openalex.org/W2141608626","https://openalex.org/W2141840718","https://openalex.org/W2144908726","https://openalex.org/W2148477513","https://openalex.org/W2154263589","https://openalex.org/W2156961624","https://openalex.org/W2161414825","https://openalex.org/W2162142951","https://openalex.org/W2163849750","https://openalex.org/W2164997814","https://openalex.org/W2169351250","https://openalex.org/W2169580995"],"related_works":["https://openalex.org/W1994698249","https://openalex.org/W7214431428","https://openalex.org/W2252333435","https://openalex.org/W2613373441","https://openalex.org/W7153438939","https://openalex.org/W2922226681","https://openalex.org/W3128186864","https://openalex.org/W2886920307","https://openalex.org/W138028103","https://openalex.org/W2074752238"],"abstract_inverted_index":{"Summary":[0],"Objectives.":[1],"Genetic":[2,290],"causes":[69],"can":[4,199,209],"be":[5,200,210,364],"directly":[6,211],"responsible":[7,212,241],"for":[8,213,242],"various":[9,22],"clinical":[10,295,368],"conditions":[11],"of":[12,34,39,57,86,88,105,111,125,134,138,147,181,231,251,258,264,274,283,316,324,336,345],"male":[70],"infertility.":[14,203],"In":[15],"this":[16],"review,":[17],"we":[18],"shall":[19],"discuss":[20],"the":[21,32,40,103,106,123,139,142,164,167,174,219,229,232,235,245,249,268,271,281,284,306,343,350],"ge-":[23],"netic":[24],"that":[26,84,198],"have":[27,292],"acquired":[28],"considerable":[29],"importance":[30],"from":[31],"viewpoint":[33],"infertility,":[71],"whether":[36],"and/or":[38],"couple,":[41],"thus":[42],"contributing":[43],"to":[44,120,130,163,260,341,349,353],"accom-":[45],"plishing":[46],"more":[47,318],"accurate":[48],"diagnoses.":[49],"Material":[50],"and":[51,62,77,90,101,128,191,196,228,262,266,310,333,357],"methods.":[52],"We":[53],"performed":[54],"a":[55,151,178],"review":[56],"published":[58],"in":[59,122,132,206,280,287,305,327,339,361],"scientific":[60],"journals":[61],"literature":[63],"using":[64],"as":[65,189,218,286],"key":[66],"words":[67],"genetic":[325,347,355],"spermatogenesis,":[72],"medically":[73],"assisted":[74],"procreation":[75],"techniques":[76],"similar":[78],"words.":[79],"Results.":[80],"It":[81],"is":[82,116,240],"known":[83],"10-15%":[85],"cases":[87,124,133],"azoospermia":[89,157],"severe":[91,126,152,159,319],"oligozoospermia":[92,127],"are":[93,170,276,314],"genetically-based,":[94],"represented":[95],"mostly":[96],"by":[97,102],"Klinefelter's":[98],"syndrome":[99],"(KS)":[100],"microdeletions":[104,137],"Y":[107],"chromosome.":[108],"The":[109,136,321],"prevalence":[110],"KS":[112],"among":[113],"infertile":[114,328],"men":[115],"considerably":[117],"high:":[118],"up":[119,129],"5%":[121],"10%":[131],"azoospermia.":[135],"AZF":[140],"region,":[141],"second":[143],"most":[144],"common":[145],"cause":[146,303],"determine":[150],"primitive":[153],"testiculopathy":[154],"with":[155,173,202,278],"consequent":[156],"or":[158],"oligozoospermia.":[160],"With":[161],"regard":[162],"chromosomal":[165],"alterations,":[166],"predominating":[168],"anomalies":[169,184,279,291,348],"those":[171],"associated":[172,201,277],"sex":[175],"chromosomes.":[176],"However,":[177],"wide":[179],"range":[180],"structural":[182],"autosomal":[183],"has":[185],"been":[186],"identified":[187],"such":[188,217],"Robertsonian":[190],"reciprocal":[192],"translocations,":[193],"inversions,":[194],"duplications":[195],"deletions,":[197],"Lastly,":[204],"mutations":[205],"single":[207],"genes":[208,269],"infertil-":[215],"ity,":[216],"gene":[220,236,246],"CFTR":[221],"which,":[222],"once":[223,254],"mutated,":[224,255],"cystic":[226],"fibrosis":[227],"'non-formation'":[230],"vas":[233],"deferens;":[234],"KAL":[237],"1,":[238],"which":[239,247,275,360],"Kallmann's":[243],"syndrome;":[244],"codifies":[248],"receptor":[250],"androgens":[252,261],"that,":[253],"syndromes":[257],"insensitivity":[259],"alterations":[263,326],"spermatogenesis":[265],"lastly":[267],"INSL3-RXFP2,":[270],"muta-":[272],"tions":[273],"descent":[282],"testicles,":[285],"cryptorchidism.":[288],"Conclusion.":[289],"assumed":[293],"enormous":[294],"impor-":[296],"tance,":[297],"not":[298],"only":[299],"because":[300,312],"they":[301,313],"may":[302,363],"infertility":[304],"offspring,":[307],"but":[308],"also":[309],"mainly":[311],"capable":[315],"causing":[317],"illnesses.":[320],"high":[322],"frequency":[323],"couples":[329],"demands":[330],"appropri-":[331],"ate":[332],"correct":[334],"diagnosis":[335],"these":[337],"patients":[338],"order":[340],"reduce":[342],"risk":[344],"transmitting":[346],"offspring.":[351],"Whether":[352],"undertake":[354],"investigations":[356],"if":[358],"so,":[359],"particular,":[362],"indicated":[365],"through":[366],"detailed":[367],"assessment.":[369]},"counts_by_year":[{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":2},{"year":2014,"cited_by_count":3}],"updated_date":"2025-11-06T04:12:42.849631","created_date":"2016-06-24T00:00:00"}
