{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T09:02:47Z","timestamp":1792141367137,"version":"4.4.0"},"reference-count":55,"publisher":"The Endocrine Society","issue":"12","license":[{"start":{"date-parts":[[2020,8,24]],"date-time":"2020-08-24T00:00:00Z","timestamp":1598227200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Direction G\u00e9n\u00e9rale des Soins"},{"name":"French National Research Protocol Bardet-Biedl","award":["IDRCB 2007-A00868-45"],"award-info":[{"award-number":["IDRCB 2007-A00868-45"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,12,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Purpose<\/jats:title>\n                    <jats:p>Bardet-Biedl syndrome (BBS) is a ciliopathy with a wide spectrum of symptoms due to primary cilia dysfunction, including genitourinary developmental anomalies as well as impaired reproduction, particularly in males. Primary cilia are known to be required at the following steps of reproduction function: (i) genitourinary organogenesis, (ii) in fetal firing of hypothalamo-pituitary axe, (iii) sperm flagellum structure, and (iv) first zygotic mitosis conducted by proximal sperm centriole. BBS phenotype is not fully understood.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This study explored all steps of reproduction in 11 French male patients with identified BBS mutations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>BBS patients frequently presented with genitourinary malformations, such as cryptorchidism (5\/11), short scrotum (5\/8), and micropenis (5\/8), but unexpectedly, with normal testis size (7\/8). Ultrasonography highlighted epididymal cysts or agenesis of one seminal vesicle in some cases. Sexual hormones levels were normal in all patients except one. Sperm numeration was normal in 8 out of the 10 obtained samples. Five to 45% of sperm presented a progressive motility. Electron microscopy analysis of spermatozoa did not reveal any homogeneous abnormality. Moreover, a psychological approach pointed to a decreased self-confidence linked to blindness and obesity explaining why so few BBS patients express a child wish.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Primary cilia dysfunction in BBS impacts the embryology of the male genital tract, especially epididymis, penis, and scrotum through an insufficient fetal androgen production. However, in adults, sperm structure does not seem to be impacted. These results should be confirmed in a greater BBS patient cohort, focusing on fertility.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/clinem\/dgaa551","type":"journal-article","created":{"date-parts":[[2020,8,24]],"date-time":"2020-08-24T16:27:14Z","timestamp":1598286434000},"page":"e4417-e4429","source":"Crossref","is-referenced-by-count":27,"title":["Reproduction Function in Male Patients With Bardet Biedl Syndrome"],"prefix":"10.1210","volume":"105","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0436-486X","authenticated-orcid":false,"given":"Isabelle","family":"Koscinski","sequence":"first","affiliation":[{"name":"Laboratoire de Biologie de la Reproduction\/CECOS Lorraine, H\u00f4pitaux universitaires de Nancy, Nancy, France"},{"name":"Universit\u00e9 de Lorraine, Inserm, NGERE, Nancy, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel","family":"Mark","sequence":"additional","affiliation":[{"name":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), Illkirch-Graffenstaden, France"},{"name":"Laboratoire de Biologie de la Reproduction, H\u00f4pitaux universitaires de Strasbourg (HUS), Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Messaddeq","sequence":"additional","affiliation":[{"name":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), Illkirch-Graffenstaden, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean Jacques","family":"Braun","sequence":"additional","affiliation":[{"name":"Service ORL et CCF, H\u00f4pitaux universitaires de Strasbourg (HUS), Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Celebi","sequence":"additional","affiliation":[{"name":"Laboratoire de Biologie de la Reproduction, H\u00f4pitaux universitaires de Strasbourg (HUS), Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7682-559X","authenticated-orcid":false,"given":"Jean","family":"Muller","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale, INSERM, UMRS_1112, Institut de G\u00e9n\u00e9tique M\u00e9dicale d\u2019Alsace (IGMA), F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS), Universit\u00e9 de Strasbourg, Facult\u00e9 de m\u00e9decine de Strasbourg, Strasbourg, France"},{"name":"Laboratoires de Diagnostic G\u00e9n\u00e9tique, H\u00f4pitaux Universitaires de Strasbourg, Institut de G\u00e9n\u00e9tique M\u00e9dicale d\u2019Alsace (IGMA), Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Zinetti-Bertschy","sequence":"additional","affiliation":[{"name":"P\u00f4le de Psychiatrie, Sant\u00e9 Mentale et Addictologie, H\u00f4pitaux Universitaires de Strasbourg, Strasbourg, France"},{"name":"Neuropsychologie cognitive et physiopathologie de la schizophr\u00e9nie, Unit\u00e9 de recherche INSERM U1114, F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS), Universit\u00e9 de Strasbourg, Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Goetz","sequence":"additional","affiliation":[{"name":"Fili\u00e8re SENSGENE, Centre de R\u00e9f\u00e9rence pour les affections rares en g\u00e9n\u00e9tique ophtalmologique (CARGO), Institut de G\u00e9n\u00e9tique M\u00e9dicale d\u2019Alsace (IGMA), H\u00f4pitaux Universitaires de Strasbourg, Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Dollfus","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale, INSERM, UMRS_1112, Institut de G\u00e9n\u00e9tique M\u00e9dicale d\u2019Alsace (IGMA), F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS), Universit\u00e9 de Strasbourg, Facult\u00e9 de m\u00e9decine de Strasbourg, Strasbourg, France"},{"name":"Laboratoires de Diagnostic G\u00e9n\u00e9tique, H\u00f4pitaux Universitaires de Strasbourg, Institut de G\u00e9n\u00e9tique M\u00e9dicale d\u2019Alsace (IGMA), Strasbourg, France"},{"name":"Fili\u00e8re SENSGENE, Centre de R\u00e9f\u00e9rence pour les affections rares en g\u00e9n\u00e9tique ophtalmologique (CARGO), Institut de G\u00e9n\u00e9tique M\u00e9dicale d\u2019Alsace (IGMA), H\u00f4pitaux Universitaires de Strasbourg, Strasbourg, France"},{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pitaux Universitaires de Strasbourg, Institut de G\u00e9n\u00e9tique M\u00e9dicale d\u2019Alsace (IGMA), Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Rossignol","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale, INSERM, UMRS_1112, Institut de G\u00e9n\u00e9tique M\u00e9dicale d\u2019Alsace (IGMA), F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS), Universit\u00e9 de Strasbourg, Facult\u00e9 de m\u00e9decine de Strasbourg, Strasbourg, France"},{"name":"Laboratoires de Diagnostic G\u00e9n\u00e9tique, H\u00f4pitaux Universitaires de Strasbourg, Institut de G\u00e9n\u00e9tique M\u00e9dicale d\u2019Alsace (IGMA), Strasbourg, France"},{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pitaux Universitaires de Strasbourg, Institut de G\u00e9n\u00e9tique M\u00e9dicale d\u2019Alsace (IGMA), Strasbourg, France"},{"name":"Service de P\u00e9diatrie, H\u00f4pitaux Universitaires de Strasbourg, Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2020,8,25]]},"reference":[{"key":"2021122106132595600_CIT0001","article-title":"Bardet-Biedl syndrome","volume-title":"GeneReviews.:1993\u20132003","author":"Waters"},{"issue":"1","key":"2021122106132595600_CIT0002","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1111\/cge.12737","article-title":"Genetics of human Bardet-Biedl syndrome, an updates","volume":"90","author":"Khan","year":"2016","journal-title":"Clin Genet."},{"key":"2021122106132595600_CIT0003","doi-asserted-by":"crossref","first-page":"21","DOI":"10.3389\/fgene.2019.00021","article-title":"Identification and characterization of known biallelic mutations in the IFT27 (BBS19) gene in a novel family with Bardet-Biedl syndrome","volume":"10","author":"Schaefer","year":"2019","journal-title":"Front Genet."},{"issue":"6","key":"2021122106132595600_CIT0004","doi-asserted-by":"crossref","first-page":"854","DOI":"10.1016\/j.devcel.2008.11.001","article-title":"A BBSome subunit links ciliogenesis, microtubule stability, and acetylation","volume":"15","author":"Loktev","year":"2008","journal-title":"Dev Cell."},{"issue":"4","key":"2021122106132595600_CIT0005","doi-asserted-by":"crossref","first-page":"1488","DOI":"10.1073\/pnas.0910268107","article-title":"BBS6, BBS10, and BBS12 form a complex with CCT\/TRiC family chaperonins and mediate BBSome assembly","volume":"107","author":"Seo","year":"2010","journal-title":"Proc Natl Acad Sci U S A."},{"issue":"10","key":"2021122106132595600_CIT0006","doi-asserted-by":"crossref","first-page":"a028092","DOI":"10.1101\/cshperspect.a028092","article-title":"The intraflagellar transport machinery","volume":"8","author":"Taschner","year":"2016","journal-title":"Cold Spring Harb Perspect Biol"},{"issue":"6","key":"2021122106132595600_CIT0007","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1042\/EBC20180030","article-title":"Trafficking of ciliary membrane proteins by the intraflagellar transport\/BBSome machinery","volume":"62","author":"Wingfield","year":"2018","journal-title":"Essays Biochem."},{"issue":"6","key":"2021122106132595600_CIT0008","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1136\/jmg.36.6.437","article-title":"New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey","volume":"36","author":"Beales","year":"1999","journal-title":"J Med Genet."},{"issue":"1","key":"2021122106132595600_CIT0009","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1038\/ejhg.2012.115","article-title":"Bardet-Biedl syndrome","volume":"21","author":"Forsythe","year":"2013","journal-title":"Eur J Hum Genet."},{"issue":"4","key":"2021122106132595600_CIT0010","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1002\/ajmg.a.30406","article-title":"Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study","volume":"132A","author":"Moore","year":"2005","journal-title":"Am J Med Genet A."},{"issue":"4","key":"2021122106132595600_CIT0011","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1038\/nrm3085","article-title":"Ciliogenesis: building the cell\u2019s antenna","volume":"12","author":"Ishikawa","year":"2011","journal-title":"Nat Rev Mol Cell Biol."},{"issue":"1","key":"2021122106132595600_CIT0012","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1093\/humrep\/dev251","article-title":"Another look at human sperm morphology","volume":"31","author":"Auger","year":"2016","journal-title":"Hum Reprod."},{"issue":"5","key":"2021122106132595600_CIT0013","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1016\/S0022-3476(99)70244-1","article-title":"Congenital hypogonadotropic hypogonadism and micropenis: effect of testosterone treatment on adult penile size why sex reversal is not indicated","volume":"134","author":"Bin-Abbas","year":"1999","journal-title":"J Pediatr."},{"key":"2021122106132595600_CIT0014","first-page":"269","volume-title":"The Harriet Lane Handbook. Vol Endocrinology","author":"Custer","year":"2008"},{"key":"2021122106132595600_CIT0015","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1016\/S0022-5347(17)70767-7","article-title":"Normal growth and variation in the male genitalia from birth to maturity","volume":"48","author":"Schonfeld","year":"1942","journal-title":"J Urol."},{"issue":"3","key":"2021122106132595600_CIT0016","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1111\/cge.13500","article-title":"Bardet-Biedl syndrome: antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes","volume":"95","author":"Mary","year":"2019","journal-title":"Clin Genet."},{"key":"2021122106132595600_CIT0017","first-page":"7","volume-title":"WHO Laboratory Manual for the Examination and Processing of Human Semen","author":"World Health Organization","year":"2010","edition":"5"},{"issue":"4","key":"2021122106132595600_CIT0018","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1007\/BF03034491","article-title":"Standardisation de la classification morphologique des spermatozo\u00efdes humains selon la m\u00e9thode de David modifi\u00e9e","volume":"10","author":"Auger","year":"2000","journal-title":"Andrologie"},{"issue":"6","key":"2021122106132595600_CIT0019","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1111\/cge.12391","article-title":"Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome","volume":"86","author":"Braun","year":"2014","journal-title":"Clin Genet."},{"issue":"6","key":"2021122106132595600_CIT0020","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1016\/0031-9384(75)90081-5","article-title":"Intranasal trigeminal detection of chemical vapors by humans","volume":"14","author":"Doty","year":"1975","journal-title":"Physiol Behav."},{"issue":"4","key":"2021122106132595600_CIT0021","doi-asserted-by":"crossref","first-page":"460","DOI":"10.2500\/ajr.2007.21.3043","article-title":"Office procedures for quantitative assessment of olfactory function","volume":"21","author":"Doty","year":"2007","journal-title":"Am J Rhinol."},{"issue":"4","key":"2021122106132595600_CIT0022","first-page":"222","article-title":"\u201cSniffin\u2019 sticks\u201d: screening of olfactory performance","volume":"34","author":"Kobal","year":"1996","journal-title":"Rhinology."},{"key":"2021122106132595600_CIT0023","volume-title":"Echelle d\u2019intelligence adulte","author":"Wechsler","year":"1997"},{"issue":"5","key":"2021122106132595600_CIT0024","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1038\/sj.ejhg.5201372","article-title":"Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort","volume":"13","author":"Hichri","year":"2005","journal-title":"Eur J Hum Genet."},{"issue":"2","key":"2021122106132595600_CIT0025","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1111\/cge.13768","article-title":"High prevalence of Bardet-Biedl syndrome in La R\u00e9union Island is due to a founder variant in ARL6\/BBS3","volume":"98","author":"Gouronc","year":"2020","journal-title":"Clin Genet."},{"issue":"2","key":"2021122106132595600_CIT0026","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1111\/cge.12129","article-title":"Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis","volume":"85","author":"M\u2019hamdi","year":"2014","journal-title":"Clin Genet."},{"issue":"1","key":"2021122106132595600_CIT0027","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1097\/MCD.0b013e32833fd528","article-title":"Radiologic and hormonal evaluation of pituitary abnormalities in patients with Bardet-Biedl syndrome","volume":"20","author":"Guran","year":"2011","journal-title":"Clin Dysmorphol."},{"issue":"1","key":"2021122106132595600_CIT0028","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1530\/acta.0.0840191","article-title":"Pituitary and gonadal function in patients with the Laurence-Moon-Biedl syndrome","volume":"84","author":"P\u00e9rez-Palacios","year":"1977","journal-title":"Acta Endocrinol (Copenh)."},{"key":"2021122106132595600_CIT0029","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1210\/jcem-24-1-48","article-title":"Hypogonadotrophic hypogonadism in the Laurence-Moon syndrome","volume":"24","author":"Reinfrank","year":"1964","journal-title":"J Clin Endocrinol Metab."},{"issue":"7","key":"2021122106132595600_CIT0030","first-page":"514","article-title":"Hypothalamic-pituitary function in the Bardet-Biedl syndrome","volume":"16","author":"Leroith","year":"1980","journal-title":"Isr J Med Sci."},{"issue":"4","key":"2021122106132595600_CIT0031","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1016\/S0015-0282(16)43940-3","article-title":"The Laurence-Moon-Bardet-Biedl syndrome: unresponsiveness to the action of testosterone, a possible mechanism","volume":"31","author":"Mozaffarian","year":"1979","journal-title":"Fertil Steril."},{"issue":"12","key":"2021122106132595600_CIT0032","doi-asserted-by":"crossref","first-page":"1277","DOI":"10.1016\/0026-0495(77)90025-7","article-title":"Evaluation of the hypothalamic-pituitary-gonadal function in the Bardet-Biedl syndrome","volume":"26","author":"Toledo","year":"1977","journal-title":"Metabolism."},{"issue":"15","key":"2021122106132595600_CIT0033","doi-asserted-by":"crossref","first-page":"1002","DOI":"10.1056\/NEJM198910123211503","article-title":"The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome","volume":"321","author":"Green","year":"1989","journal-title":"N Engl J Med."},{"issue":"10","key":"2021122106132595600_CIT0034","doi-asserted-by":"crossref","first-page":"1230","DOI":"10.1016\/S0026-0495(96)90240-1","article-title":"Empty sellae, impaired testosterone secretion, and defective hypothalamic-pituitary growth and gonadal axes in children with Bardet-Biedl syndrome","volume":"45","author":"Soliman","year":"1996","journal-title":"Metabolism."},{"issue":"9","key":"2021122106132595600_CIT0035","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1038\/nrendo.2015.112","article-title":"Expert consensus document: European consensus statement on congenital hypogonadotropic hypogonadism\u2013pathogenesis, diagnosis and treatment","volume":"11","author":"Boehm","year":"2015","journal-title":"Nat Rev Endocrinol."},{"issue":"2","key":"2021122106132595600_CIT0036","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1210\/er.2018-00116","article-title":"Clinical management of congenital hypogonadotropic hypogonadism","volume":"40","author":"Young","year":"2019","journal-title":"Endocr Rev."},{"issue":"6","key":"2021122106132595600_CIT0037","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1262\/jrd.2016-083","article-title":"The roles of kisspeptin revisited: inside and outside the hypothalamus","volume":"62","author":"Uenoyama","year":"2016","journal-title":"J Reprod Dev."},{"key":"2021122106132595600_CIT0038","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1016\/j.brainres.2010.08.087","article-title":"Impact of mutations in kisspeptin and neurokinin B signaling pathways on human reproduction","volume":"1364","author":"Silveira","year":"2010","journal-title":"Brain Res."},{"issue":"28","key":"2021122106132595600_CIT0039","doi-asserted-by":"crossref","first-page":"10335","DOI":"10.1073\/pnas.1403286111","article-title":"Primary cilia enhance kisspeptin receptor signaling on gonadotropin-releasing hormone neurons","volume":"111","author":"Koemeter-Cox","year":"2014","journal-title":"Proc Natl Acad Sci U S A."},{"issue":"1","key":"2021122106132595600_CIT0040","doi-asserted-by":"crossref","first-page":"391.e13","DOI":"10.1016\/j.fertnstert.2009.02.023","article-title":"Reversible hypogonadism in Bardet-Biedl syndrome","volume":"92","author":"Desai","year":"2009","journal-title":"Fertil Steril."},{"issue":"3","key":"2021122106132595600_CIT0041","doi-asserted-by":"crossref","first-page":"790","DOI":"10.2215\/CJN.05311107","article-title":"Prevalence of cysts in seminal tract and abnormal semen parameters in patients with autosomal dominant polycystic kidney disease","volume":"3","author":"Torra","year":"2008","journal-title":"Clin J Am Soc Nephrol."},{"issue":"6","key":"2021122106132595600_CIT0042","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1016\/j.nephro.2014.03.003","article-title":"[Autosomal dominant polycystic kidney disease: is the treatment for tomorrow?]","volume":"10","author":"Cornec-Le Gall","year":"2014","journal-title":"N\u00e9phrologie Th\u00e9rapeutique"},{"issue":"4","key":"2021122106132595600_CIT0043","doi-asserted-by":"crossref","first-page":"907","DOI":"10.3390\/cells9040907","article-title":"Ciliary genes in renal cystic diseases","volume":"9","author":"Adamiok-Ostrowska","year":"2020","journal-title":"Cells"},{"issue":"20","key":"2021122106132595600_CIT0044","doi-asserted-by":"crossref","first-page":"5441","DOI":"10.1093\/hmg\/ddu267","article-title":"Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein","volume":"23","author":"Su","year":"2014","journal-title":"Hum Mol Genet."},{"key":"2021122106132595600_CIT0045","doi-asserted-by":"crossref","DOI":"10.1007\/978-94-009-8192-8","volume-title":"Human Fetal Endocrines","author":"Jir\u00e1sek","year":"1980"},{"issue":"2","key":"2021122106132595600_CIT0046","first-page":"13","article-title":"Morphogenesis of the genital system in the human","volume":"13","author":"Jir\u00e1sek","year":"1977","journal-title":"Birth Defects Orig Artic Ser."},{"issue":"6","key":"2021122106132595600_CIT0047","doi-asserted-by":"crossref","first-page":"1319","DOI":"10.1016\/S0015-0282(16)55999-8","article-title":"Increase in testicular temperature in case of cryptorchidism in boys","volume":"59","author":"Mieusset","year":"1993","journal-title":"Fertil Steril."},{"issue":"49","key":"2021122106132595600_CIT0048","doi-asserted-by":"crossref","first-page":"19422","DOI":"10.1073\/pnas.0708571104","article-title":"A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity","volume":"104","author":"Davis","year":"2007","journal-title":"Proc Natl Acad Sci U S A."},{"issue":"23","key":"2021122106132595600_CIT0049","doi-asserted-by":"crossref","first-page":"8664","DOI":"10.1073\/pnas.0402354101","article-title":"Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly","volume":"101","author":"Mykytyn","year":"2004","journal-title":"Proc Natl Acad Sci U S A."},{"issue":"47","key":"2021122106132595600_CIT0050","doi-asserted-by":"crossref","first-page":"16588","DOI":"10.1073\/pnas.0405496101","article-title":"Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin","volume":"101","author":"Nishimura","year":"2004","journal-title":"Proc Natl Acad Sci U S A."},{"issue":"Pt 11","key":"2021122106132595600_CIT0051","first-page":"2372","article-title":"BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking","volume":"126","author":"Zhang","year":"2013","journal-title":"J Cell Sci."},{"issue":"9","key":"2021122106132595600_CIT0052","doi-asserted-by":"crossref","first-page":"3380","DOI":"10.1073\/pnas.0712327105","article-title":"Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia","volume":"105","author":"Shah","year":"2008","journal-title":"Proc Natl Acad Sci U S A."},{"issue":"6","key":"2021122106132595600_CIT0053","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1095\/biolreprod.107.066860","article-title":"Identification of the molecular chaperone, heat shock protein 1 (chaperonin 10), in the reproductive tract and in capacitating spermatozoa in the male mouse","volume":"78","author":"Walsh","year":"2008","journal-title":"Biol Reprod."},{"issue":"4","key":"2021122106132595600_CIT0054","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1111\/cge.12614","article-title":"Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome","volume":"89","author":"Kerr","year":"2016","journal-title":"Clin Genet."},{"issue":"12","key":"2021122106132595600_CIT0055","doi-asserted-by":"crossref","first-page":"e76","DOI":"10.1136\/jmg.39.12.e76","article-title":"Behavioural phenotype of Bardet-Biedl syndrome","volume":"39","author":"Barnett","year":"2002","journal-title":"J Med Genet."}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/advance-article-pdf\/doi\/10.1210\/clinem\/dgaa551\/33678599\/dgaa551.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcem\/article-pdf\/105\/12\/e4417\/41829111\/dgaa551.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcem\/article-pdf\/105\/12\/e4417\/41829111\/dgaa551.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,11,9]],"date-time":"2022-11-09T13:24:43Z","timestamp":1668000283000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/105\/12\/e4417\/5896599"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8,25]]},"references-count":55,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2020,8,25]]},"published-print":{"date-parts":[[2020,12,1]]}},"URL":"https:\/\/doi.org\/10.1210\/clinem\/dgaa551","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2020,12]]},"published":{"date-parts":[[2020,8,25]]}}}