Etiology
Ertl DA,
Mantovani G,
de Nanclares GP,
Elli FM,
Pereda A,
Pagnano A,
Sanchis A,
Cueto-Gonzalez AM,
Berrade S,
León MC,
Rothenbuhler A,
Audrain C,
Berkenou J,
Knight N,
Dolman K,
Gleiss A,
Argente J,
Linglart A
J Endocrinol Invest
2023 Aug;46(8):1673-1684.
Epub 2023 Feb 7
doi: 10.1007/s40618-023-02026-2.
PMID: 36749450
Linglart A,
Levine MA,
Jüppner H
Endocrinol Metab Clin North Am
2018 Dec;47(4):865-888.
Epub 2018 Oct 12
doi: 10.1016/j.ecl.2018.07.011.
PMID: 30390819Free PMC Article
Mantovani G,
Bastepe M,
Monk D,
de Sanctis L,
Thiele S,
Usardi A,
Ahmed SF,
Bufo R,
Choplin T,
De Filippo G,
Devernois G,
Eggermann T,
Elli FM,
Freson K,
García Ramirez A,
Germain-Lee EL,
Groussin L,
Hamdy N,
Hanna P,
Hiort O,
Jüppner H,
Kamenický P,
Knight N,
Kottler ML,
Le Norcy E,
Lecumberri B,
Levine MA,
Mäkitie O,
Martin R,
Martos-Moreno GÁ,
Minagawa M,
Murray P,
Pereda A,
Pignolo R,
Rejnmark L,
Rodado R,
Rothenbuhler A,
Saraff V,
Shoemaker AH,
Shore EM,
Silve C,
Turan S,
Woods P,
Zillikens MC,
Perez de Nanclares G,
Linglart A
Nat Rev Endocrinol
2018 Aug;14(8):476-500.
doi: 10.1038/s41574-018-0042-0.
PMID: 29959430Free PMC Article
Mantovani G,
Elli FM
Ann Endocrinol (Paris)
2015 May;76(2):101-4.
Epub 2015 Apr 21
doi: 10.1016/j.ando.2015.03.028.
PMID: 25910998
Silve C,
Clauser E,
Linglart A
Horm Metab Res
2012 Sep;44(10):749-58.
Epub 2012 Jul 19
doi: 10.1055/s-0032-1316330.
PMID: 22815067
Diagnosis
Mantovani G,
Bastepe M,
Monk D,
de Sanctis L,
Thiele S,
Ahmed SF,
Bufo R,
Choplin T,
De Filippo G,
Devernois G,
Eggermann T,
Elli FM,
Garcia Ramirez A,
Germain-Lee EL,
Groussin L,
Hamdy NAT,
Hanna P,
Hiort O,
Jüppner H,
Kamenický P,
Knight N,
Le Norcy E,
Lecumberri B,
Levine MA,
Mäkitie O,
Martin R,
Martos-Moreno GÁ,
Minagawa M,
Murray P,
Pereda A,
Pignolo R,
Rejnmark L,
Rodado R,
Rothenbuhler A,
Saraff V,
Shoemaker AH,
Shore EM,
Silve C,
Turan S,
Woods P,
Zillikens MC,
Perez de Nanclares G,
Linglart A
Horm Res Paediatr
2020;93(3):182-196.
Epub 2020 Aug 5
doi: 10.1159/000508985.
PMID: 32756064Free PMC Article
Linglart A,
Levine MA,
Jüppner H
Endocrinol Metab Clin North Am
2018 Dec;47(4):865-888.
Epub 2018 Oct 12
doi: 10.1016/j.ecl.2018.07.011.
PMID: 30390819Free PMC Article
Mantovani G,
Bastepe M,
Monk D,
de Sanctis L,
Thiele S,
Usardi A,
Ahmed SF,
Bufo R,
Choplin T,
De Filippo G,
Devernois G,
Eggermann T,
Elli FM,
Freson K,
García Ramirez A,
Germain-Lee EL,
Groussin L,
Hamdy N,
Hanna P,
Hiort O,
Jüppner H,
Kamenický P,
Knight N,
Kottler ML,
Le Norcy E,
Lecumberri B,
Levine MA,
Mäkitie O,
Martin R,
Martos-Moreno GÁ,
Minagawa M,
Murray P,
Pereda A,
Pignolo R,
Rejnmark L,
Rodado R,
Rothenbuhler A,
Saraff V,
Shoemaker AH,
Shore EM,
Silve C,
Turan S,
Woods P,
Zillikens MC,
Perez de Nanclares G,
Linglart A
Nat Rev Endocrinol
2018 Aug;14(8):476-500.
doi: 10.1038/s41574-018-0042-0.
PMID: 29959430Free PMC Article
Cianferotti L,
Brandi ML
Minerva Endocrinol
2018 Jun;43(2):156-167.
Epub 2017 Nov 10
doi: 10.23736/S0391-1977.17.02768-7.
PMID: 29125274
Silve C,
Clauser E,
Linglart A
Horm Metab Res
2012 Sep;44(10):749-58.
Epub 2012 Jul 19
doi: 10.1055/s-0032-1316330.
PMID: 22815067
Therapy
Ertl DA,
Mantovani G,
de Nanclares GP,
Elli FM,
Pereda A,
Pagnano A,
Sanchis A,
Cueto-Gonzalez AM,
Berrade S,
León MC,
Rothenbuhler A,
Audrain C,
Berkenou J,
Knight N,
Dolman K,
Gleiss A,
Argente J,
Linglart A
J Endocrinol Invest
2023 Aug;46(8):1673-1684.
Epub 2023 Feb 7
doi: 10.1007/s40618-023-02026-2.
PMID: 36749450
Linglart A,
Levine MA,
Jüppner H
Endocrinol Metab Clin North Am
2018 Dec;47(4):865-888.
Epub 2018 Oct 12
doi: 10.1016/j.ecl.2018.07.011.
PMID: 30390819Free PMC Article
Mantovani G,
Bastepe M,
Monk D,
de Sanctis L,
Thiele S,
Usardi A,
Ahmed SF,
Bufo R,
Choplin T,
De Filippo G,
Devernois G,
Eggermann T,
Elli FM,
Freson K,
García Ramirez A,
Germain-Lee EL,
Groussin L,
Hamdy N,
Hanna P,
Hiort O,
Jüppner H,
Kamenický P,
Knight N,
Kottler ML,
Le Norcy E,
Lecumberri B,
Levine MA,
Mäkitie O,
Martin R,
Martos-Moreno GÁ,
Minagawa M,
Murray P,
Pereda A,
Pignolo R,
Rejnmark L,
Rodado R,
Rothenbuhler A,
Saraff V,
Shoemaker AH,
Shore EM,
Silve C,
Turan S,
Woods P,
Zillikens MC,
Perez de Nanclares G,
Linglart A
Nat Rev Endocrinol
2018 Aug;14(8):476-500.
doi: 10.1038/s41574-018-0042-0.
PMID: 29959430Free PMC Article
Linglart A,
Fryssira H,
Hiort O,
Holterhus PM,
Perez de Nanclares G,
Argente J,
Heinrichs C,
Kuechler A,
Mantovani G,
Leheup B,
Wicart P,
Chassot V,
Schmidt D,
Rubio-Cabezas Ó,
Richter-Unruh A,
Berrade S,
Pereda A,
Boros E,
Muñoz-Calvo MT,
Castori M,
Gunes Y,
Bertrand G,
Bougnères P,
Clauser E,
Silve C
J Clin Endocrinol Metab
2012 Dec;97(12):E2328-38.
Epub 2012 Oct 5
doi: 10.1210/jc.2012-2326.
PMID: 23043190
Sezer N,
Sutbeyaz ST,
Koseoglu F,
Aras M,
Akin C
J Back Musculoskelet Rehabil
2009;22(2):125-9.
doi: 10.3233/BMR-2009-0223.
PMID: 20023341
Prognosis
Nayır Büyükşahin H,
Emiralioglu N,
Simşek Kiper PÖ,
Sunman B,
Güzelkaş I,
Alboğa D,
Akgül Erdal M,
Boduroglu K,
Utine GE,
Yalcın E,
Doğru D,
Kiper N,
Ozcelik U
J Sleep Res
2023 Oct;32(5):e13914.
Epub 2023 May 1
doi: 10.1111/jsr.13914.
PMID: 37128177
Velasco HM,
Ullah E,
Martin AM,
Hufnagel RB,
Prada CE
Am J Med Genet A
2020 Oct;182(10):2214-2221.
Epub 2020 Aug 11
doi: 10.1002/ajmg.a.61782.
PMID: 32783359Free PMC Article
Mantovani G,
Bastepe M,
Monk D,
de Sanctis L,
Thiele S,
Usardi A,
Ahmed SF,
Bufo R,
Choplin T,
De Filippo G,
Devernois G,
Eggermann T,
Elli FM,
Freson K,
García Ramirez A,
Germain-Lee EL,
Groussin L,
Hamdy N,
Hanna P,
Hiort O,
Jüppner H,
Kamenický P,
Knight N,
Kottler ML,
Le Norcy E,
Lecumberri B,
Levine MA,
Mäkitie O,
Martin R,
Martos-Moreno GÁ,
Minagawa M,
Murray P,
Pereda A,
Pignolo R,
Rejnmark L,
Rodado R,
Rothenbuhler A,
Saraff V,
Shoemaker AH,
Shore EM,
Silve C,
Turan S,
Woods P,
Zillikens MC,
Perez de Nanclares G,
Linglart A
Nat Rev Endocrinol
2018 Aug;14(8):476-500.
doi: 10.1038/s41574-018-0042-0.
PMID: 29959430Free PMC Article
Graham JM Jr,
Krakow D,
Tolo VT,
Smith AK,
Lachman RS
Pediatr Radiol
2001 Jan;31(1):2-9.
doi: 10.1007/s002470000355.
PMID: 11200992
Hernández RM,
Miranda A,
Kofman-Alfaro S
Clin Genet
1991 May;39(5):376-82.
doi: 10.1111/j.1399-0004.1991.tb03045.x.
PMID: 1860254
Clinical prediction guides
Nayır Büyükşahin H,
Emiralioglu N,
Simşek Kiper PÖ,
Sunman B,
Güzelkaş I,
Alboğa D,
Akgül Erdal M,
Boduroglu K,
Utine GE,
Yalcın E,
Doğru D,
Kiper N,
Ozcelik U
J Sleep Res
2023 Oct;32(5):e13914.
Epub 2023 May 1
doi: 10.1111/jsr.13914.
PMID: 37128177
Velasco HM,
Ullah E,
Martin AM,
Hufnagel RB,
Prada CE
Am J Med Genet A
2020 Oct;182(10):2214-2221.
Epub 2020 Aug 11
doi: 10.1002/ajmg.a.61782.
PMID: 32783359Free PMC Article
Michot C,
Le Goff C,
Blair E,
Blanchet P,
Capri Y,
Gilbert-Dussardier B,
Goldenberg A,
Henderson A,
Isidor B,
Kayserili H,
Kinning E,
Le Merrer M,
Lyonnet S,
Odent S,
Simsek-Kiper PO,
Quelin C,
Savarirayan R,
Simon M,
Splitt M,
Verhagen JMA,
Verloes A,
Munnich A,
Baujat G,
Cormier-Daire V
Eur J Hum Genet
2018 Nov;26(11):1611-1622.
Epub 2018 Jul 13
doi: 10.1038/s41431-018-0135-1.
PMID: 30006632Free PMC Article
Lindstrand A,
Grigelioniene G,
Nilsson D,
Pettersson M,
Hofmeister W,
Anderlid BM,
Kant SG,
Ruivenkamp CA,
Gustavsson P,
Valta H,
Geiberger S,
Topa A,
Lagerstedt-Robinson K,
Taylan F,
Wincent J,
Laurell T,
Pekkinen M,
Nordenskjöld M,
Mäkitie O,
Nordgren A
J Med Genet
2014 Jan;51(1):45-54.
Epub 2013 Nov 7
doi: 10.1136/jmedgenet-2013-101937.
PMID: 24203977
Silve C,
Clauser E,
Linglart A
Horm Metab Res
2012 Sep;44(10):749-58.
Epub 2012 Jul 19
doi: 10.1055/s-0032-1316330.
PMID: 22815067