Etiology
Rodríguez-Palmero A,
Boerrigter MM,
Gómez-Andrés D,
Aldinger KA,
Marcos-Alcalde Í,
Popp B,
Everman DB,
Lovgren AK,
Arpin S,
Bahrambeigi V,
Beunders G,
Bisgaard AM,
Bjerregaard VA,
Bruel AL,
Challman TD,
Cogné B,
Coubes C,
de Man SA,
Denommé-Pichon AS,
Dye TJ,
Elmslie F,
Feuk L,
García-Miñaúr S,
Gertler T,
Giorgio E,
Gruchy N,
Haack TB,
Haldeman-Englert CR,
Haukanes BI,
Hoyer J,
Hurst ACE,
Isidor B,
Soller MJ,
Kushary S,
Kvarnung M,
Landau YE,
Leppig KA,
Lindstrand A,
Kleinendorst L,
MacKenzie A,
Mandrile G,
Mendelsohn BA,
Moghadasi S,
Morton JE,
Moutton S,
Müller AJ,
O'Leary M,
Pacio-Míguez M,
Palomares-Bralo M,
Parikh S,
Pfundt R,
Pode-Shakked B,
Rauch A,
Repnikova E,
Revah-Politi A,
Ross MJ,
Ruivenkamp CAL,
Sarrazin E,
Savatt JM,
Schlüter A,
Schönewolf-Greulich B,
Shad Z,
Shaw-Smith C,
Shieh JT,
Shohat M,
Spranger S,
Thiese H,
Mau-Them FT,
van Bon B,
van de Burgt I,
van de Laar IMBH,
van Drie E,
van Haelst MM,
van Ravenswaaij-Arts CM,
Verdura E,
Vitobello A,
Waldmüller S,
Whiting S,
Zweier C,
Prada CE,
de Vries BBA,
Dobyns WB,
Reiter SF,
Gómez-Puertas P,
Pujol A,
Tümer Z
Genet Med
2021 May;23(5):888-899.
Epub 2021 Feb 17
doi: 10.1038/s41436-020-01075-9.
PMID: 33597769
Kelly C,
Geraghty RM,
Somani BK
Curr Urol Rep
2019 May 18;20(7):36.
doi: 10.1007/s11934-019-0898-0.
PMID: 31104149
Coţofană M,
Muşat F,
Păduraru DN,
Andronic O,
Bolocan A,
Ion D
Chirurgia (Bucur)
2019 Jan-Feb;114(1):12-17.
doi: 10.21614/chirurgia.114.1.12.
PMID: 30830840
Al-Salameh A,
Baudry C,
Cohen R
Presse Med
2018 Sep;47(9):722-731.
Epub 2018 Jun 13
doi: 10.1016/j.lpm.2018.03.005.
PMID: 29909163
Thakker RV
Mol Cell Endocrinol
2014 Apr 5;386(1-2):2-15.
Epub 2013 Aug 8
doi: 10.1016/j.mce.2013.08.002.
PMID: 23933118Free PMC Article
Diagnosis
Dumesic DA,
Padmanabhan V,
Chazenbalk GD,
Abbott DH
Reprod Biol Endocrinol
2022 Jan 10;20(1):12.
doi: 10.1186/s12958-021-00878-y.
PMID: 35012577Free PMC Article
Rodríguez-Palmero A,
Boerrigter MM,
Gómez-Andrés D,
Aldinger KA,
Marcos-Alcalde Í,
Popp B,
Everman DB,
Lovgren AK,
Arpin S,
Bahrambeigi V,
Beunders G,
Bisgaard AM,
Bjerregaard VA,
Bruel AL,
Challman TD,
Cogné B,
Coubes C,
de Man SA,
Denommé-Pichon AS,
Dye TJ,
Elmslie F,
Feuk L,
García-Miñaúr S,
Gertler T,
Giorgio E,
Gruchy N,
Haack TB,
Haldeman-Englert CR,
Haukanes BI,
Hoyer J,
Hurst ACE,
Isidor B,
Soller MJ,
Kushary S,
Kvarnung M,
Landau YE,
Leppig KA,
Lindstrand A,
Kleinendorst L,
MacKenzie A,
Mandrile G,
Mendelsohn BA,
Moghadasi S,
Morton JE,
Moutton S,
Müller AJ,
O'Leary M,
Pacio-Míguez M,
Palomares-Bralo M,
Parikh S,
Pfundt R,
Pode-Shakked B,
Rauch A,
Repnikova E,
Revah-Politi A,
Ross MJ,
Ruivenkamp CAL,
Sarrazin E,
Savatt JM,
Schlüter A,
Schönewolf-Greulich B,
Shad Z,
Shaw-Smith C,
Shieh JT,
Shohat M,
Spranger S,
Thiese H,
Mau-Them FT,
van Bon B,
van de Burgt I,
van de Laar IMBH,
van Drie E,
van Haelst MM,
van Ravenswaaij-Arts CM,
Verdura E,
Vitobello A,
Waldmüller S,
Whiting S,
Zweier C,
Prada CE,
de Vries BBA,
Dobyns WB,
Reiter SF,
Gómez-Puertas P,
Pujol A,
Tümer Z
Genet Med
2021 May;23(5):888-899.
Epub 2021 Feb 17
doi: 10.1038/s41436-020-01075-9.
PMID: 33597769
Santi M,
Graf S,
Zeino M,
Cools M,
Van De Vijver K,
Trippel M,
Aliu N,
Flück CE
J Clin Endocrinol Metab
2021 Apr 23;106(5):1530-1539.
doi: 10.1210/clinem/dgaa948.
PMID: 33367768Free PMC Article
Al-Salameh A,
Baudry C,
Cohen R
Presse Med
2018 Sep;47(9):722-731.
Epub 2018 Jun 13
doi: 10.1016/j.lpm.2018.03.005.
PMID: 29909163
Thakker RV
Mol Cell Endocrinol
2014 Apr 5;386(1-2):2-15.
Epub 2013 Aug 8
doi: 10.1016/j.mce.2013.08.002.
PMID: 23933118Free PMC Article
Therapy
Lindberg E,
Bonsignore MR,
Polo-Kantola P
Sleep Med Rev
2020 Feb;49:101225.
Epub 2019 Oct 31
doi: 10.1016/j.smrv.2019.101225.
PMID: 31739179
Coţofană M,
Muşat F,
Păduraru DN,
Andronic O,
Bolocan A,
Ion D
Chirurgia (Bucur)
2019 Jan-Feb;114(1):12-17.
doi: 10.21614/chirurgia.114.1.12.
PMID: 30830840
Stevens SM,
O'Connell BP,
Meyer TA
Curr Opin Otolaryngol Head Neck Surg
2015 Oct;23(5):341-7.
doi: 10.1097/MOO.0000000000000194.
PMID: 26339964
Choi SM,
Kam SC
Korean J Urol
2015 Jan;56(1):12-8.
Epub 2015 Jan 6
doi: 10.4111/kju.2015.56.1.12.
PMID: 25598932Free PMC Article
Schwartz A
Orthop Nurs
2007 Jan-Feb;26(1):19-24; quiz 25-6.
doi: 10.1097/00006416-200701000-00007.
PMID: 17273103
Prognosis
Rodríguez-Palmero A,
Boerrigter MM,
Gómez-Andrés D,
Aldinger KA,
Marcos-Alcalde Í,
Popp B,
Everman DB,
Lovgren AK,
Arpin S,
Bahrambeigi V,
Beunders G,
Bisgaard AM,
Bjerregaard VA,
Bruel AL,
Challman TD,
Cogné B,
Coubes C,
de Man SA,
Denommé-Pichon AS,
Dye TJ,
Elmslie F,
Feuk L,
García-Miñaúr S,
Gertler T,
Giorgio E,
Gruchy N,
Haack TB,
Haldeman-Englert CR,
Haukanes BI,
Hoyer J,
Hurst ACE,
Isidor B,
Soller MJ,
Kushary S,
Kvarnung M,
Landau YE,
Leppig KA,
Lindstrand A,
Kleinendorst L,
MacKenzie A,
Mandrile G,
Mendelsohn BA,
Moghadasi S,
Morton JE,
Moutton S,
Müller AJ,
O'Leary M,
Pacio-Míguez M,
Palomares-Bralo M,
Parikh S,
Pfundt R,
Pode-Shakked B,
Rauch A,
Repnikova E,
Revah-Politi A,
Ross MJ,
Ruivenkamp CAL,
Sarrazin E,
Savatt JM,
Schlüter A,
Schönewolf-Greulich B,
Shad Z,
Shaw-Smith C,
Shieh JT,
Shohat M,
Spranger S,
Thiese H,
Mau-Them FT,
van Bon B,
van de Burgt I,
van de Laar IMBH,
van Drie E,
van Haelst MM,
van Ravenswaaij-Arts CM,
Verdura E,
Vitobello A,
Waldmüller S,
Whiting S,
Zweier C,
Prada CE,
de Vries BBA,
Dobyns WB,
Reiter SF,
Gómez-Puertas P,
Pujol A,
Tümer Z
Genet Med
2021 May;23(5):888-899.
Epub 2021 Feb 17
doi: 10.1038/s41436-020-01075-9.
PMID: 33597769
Coţofană M,
Muşat F,
Păduraru DN,
Andronic O,
Bolocan A,
Ion D
Chirurgia (Bucur)
2019 Jan-Feb;114(1):12-17.
doi: 10.21614/chirurgia.114.1.12.
PMID: 30830840
Al-Salameh A,
Baudry C,
Cohen R
Presse Med
2018 Sep;47(9):722-731.
Epub 2018 Jun 13
doi: 10.1016/j.lpm.2018.03.005.
PMID: 29909163
Recio Rodríguez M,
Martínez de Vega V,
Cano Alonso R,
Carrascoso Arranz J,
Martínez Ten P,
Pérez Pedregosa J
Radiographics
2012 Nov-Dec;32(7):E305-21.
doi: 10.1148/rg.327125053.
PMID: 23150864
Van Buggenhout G,
Fryns JP
Orphanet J Rare Dis
2006 Jul 10;1:26.
doi: 10.1186/1750-1172-1-26.
PMID: 16831221Free PMC Article
Clinical prediction guides
Wiel LC,
Bruno I,
Barbi E,
Sirchia F
Ital J Pediatr
2022 May 12;48(1):72.
doi: 10.1186/s13052-022-01267-w.
PMID: 35550183Free PMC Article
Rodríguez-Palmero A,
Boerrigter MM,
Gómez-Andrés D,
Aldinger KA,
Marcos-Alcalde Í,
Popp B,
Everman DB,
Lovgren AK,
Arpin S,
Bahrambeigi V,
Beunders G,
Bisgaard AM,
Bjerregaard VA,
Bruel AL,
Challman TD,
Cogné B,
Coubes C,
de Man SA,
Denommé-Pichon AS,
Dye TJ,
Elmslie F,
Feuk L,
García-Miñaúr S,
Gertler T,
Giorgio E,
Gruchy N,
Haack TB,
Haldeman-Englert CR,
Haukanes BI,
Hoyer J,
Hurst ACE,
Isidor B,
Soller MJ,
Kushary S,
Kvarnung M,
Landau YE,
Leppig KA,
Lindstrand A,
Kleinendorst L,
MacKenzie A,
Mandrile G,
Mendelsohn BA,
Moghadasi S,
Morton JE,
Moutton S,
Müller AJ,
O'Leary M,
Pacio-Míguez M,
Palomares-Bralo M,
Parikh S,
Pfundt R,
Pode-Shakked B,
Rauch A,
Repnikova E,
Revah-Politi A,
Ross MJ,
Ruivenkamp CAL,
Sarrazin E,
Savatt JM,
Schlüter A,
Schönewolf-Greulich B,
Shad Z,
Shaw-Smith C,
Shieh JT,
Shohat M,
Spranger S,
Thiese H,
Mau-Them FT,
van Bon B,
van de Burgt I,
van de Laar IMBH,
van Drie E,
van Haelst MM,
van Ravenswaaij-Arts CM,
Verdura E,
Vitobello A,
Waldmüller S,
Whiting S,
Zweier C,
Prada CE,
de Vries BBA,
Dobyns WB,
Reiter SF,
Gómez-Puertas P,
Pujol A,
Tümer Z
Genet Med
2021 May;23(5):888-899.
Epub 2021 Feb 17
doi: 10.1038/s41436-020-01075-9.
PMID: 33597769
Santi M,
Graf S,
Zeino M,
Cools M,
Van De Vijver K,
Trippel M,
Aliu N,
Flück CE
J Clin Endocrinol Metab
2021 Apr 23;106(5):1530-1539.
doi: 10.1210/clinem/dgaa948.
PMID: 33367768Free PMC Article
Coţofană M,
Muşat F,
Păduraru DN,
Andronic O,
Bolocan A,
Ion D
Chirurgia (Bucur)
2019 Jan-Feb;114(1):12-17.
doi: 10.21614/chirurgia.114.1.12.
PMID: 30830840
Al-Salameh A,
Baudry C,
Cohen R
Presse Med
2018 Sep;47(9):722-731.
Epub 2018 Jun 13
doi: 10.1016/j.lpm.2018.03.005.
PMID: 29909163