Etiology
Mazarico-Altisent I,
Capel I,
Baena N,
Bella-Cueto MR,
Barcons S,
Guirao X,
Pareja R,
Muntean A,
Arsentales V,
Caixàs A,
Rigla M
Front Endocrinol (Lausanne)
2023;14:1244361.
Epub 2023 Sep 21
doi: 10.3389/fendo.2023.1244361.
PMID: 37810884Free PMC Article
Josephs TM,
Zhang F,
Dinh LV,
Keller AN,
Conigrave AD,
Capuano B,
Gregory KJ,
Leach K
J Mol Endocrinol
2022 May 9;69(1):243-257.
doi: 10.1530/JME-21-0263.
PMID: 35318962
Bollerslev J,
Rejnmark L,
Zahn A,
Heck A,
Appelman-Dijkstra NM,
Cardoso L,
Hannan FM,
Cetani F,
Sikjær T,
Formenti AM,
Björnsdottir S,
Schalin-Jantti C,
Belaya Z,
Gibb FW,
Lapauw B,
Amrein K,
Wicke C,
Grasemann C,
Krebs M,
Ryhänen EM,
Makay O,
Minisola S,
Gaujoux S,
Bertocchio JP,
Hassan-Smith ZK,
Linglart A,
Winter EM,
Kollmann M,
Zmierczak HG,
Tsourdi E,
Pilz S,
Siggelkow H,
Gittoes NJ,
Marcocci C,
Kamenicky P;
2021 PARAT Working Group
Eur J Endocrinol
2022 Feb 1;186(2):R33-R63.
Epub 2022 Jan 13
doi: 10.1530/EJE-21-1044.
[Epub ahead of print]
PMID: 34863037Free PMC Article
Hannan FM,
Kallay E,
Chang W,
Brandi ML,
Thakker RV
Nat Rev Endocrinol
2018 Dec;15(1):33-51.
doi: 10.1038/s41574-018-0115-0.
PMID: 30443043Free PMC Article
Wolf P,
Krššák M,
Winhofer Y,
Anderwald CH,
Zwettler E,
Just Kukurová I,
Gessl A,
Trattnig S,
Luger A,
Baumgartner-Parzer S,
Krebs M
J Clin Endocrinol Metab
2014 Sep;99(9):E1721-6.
Epub 2014 Jun 20
doi: 10.1210/jc.2014-1541.
PMID: 24947037
Diagnosis
Mazarico-Altisent I,
Capel I,
Baena N,
Bella-Cueto MR,
Barcons S,
Guirao X,
Pareja R,
Muntean A,
Arsentales V,
Caixàs A,
Rigla M
Front Endocrinol (Lausanne)
2023;14:1244361.
Epub 2023 Sep 21
doi: 10.3389/fendo.2023.1244361.
PMID: 37810884Free PMC Article
Bollerslev J,
Rejnmark L,
Zahn A,
Heck A,
Appelman-Dijkstra NM,
Cardoso L,
Hannan FM,
Cetani F,
Sikjær T,
Formenti AM,
Björnsdottir S,
Schalin-Jantti C,
Belaya Z,
Gibb FW,
Lapauw B,
Amrein K,
Wicke C,
Grasemann C,
Krebs M,
Ryhänen EM,
Makay O,
Minisola S,
Gaujoux S,
Bertocchio JP,
Hassan-Smith ZK,
Linglart A,
Winter EM,
Kollmann M,
Zmierczak HG,
Tsourdi E,
Pilz S,
Siggelkow H,
Gittoes NJ,
Marcocci C,
Kamenicky P;
2021 PARAT Working Group
Eur J Endocrinol
2022 Feb 1;186(2):R33-R63.
Epub 2022 Jan 13
doi: 10.1530/EJE-21-1044.
[Epub ahead of print]
PMID: 34863037Free PMC Article
Vannucci L,
Brandi ML
Front Horm Res
2019;51:52-62.
Epub 2018 Nov 19
doi: 10.1159/000491038.
PMID: 30641521
Lee JY,
Shoback DM
Best Pract Res Clin Endocrinol Metab
2018 Oct;32(5):609-619.
Epub 2018 May 26
doi: 10.1016/j.beem.2018.05.004.
PMID: 30449544Free PMC Article
Endres DB
Clin Biochem
2012 Aug;45(12):954-63.
Epub 2012 May 5
doi: 10.1016/j.clinbiochem.2012.04.025.
PMID: 22569596
Therapy
Cuny T,
Romanet P,
Goldsworthy M,
Guérin C,
Wilkin M,
Roche P,
Sebag F,
van Summeren LE,
Stevenson M,
Howles SA,
Deharo JC,
Thakker RV,
Taïeb D
J Clin Endocrinol Metab
2024 Jan 18;109(2):549-556.
doi: 10.1210/clinem/dgad494.
PMID: 37602721Free PMC Article
Josephs TM,
Zhang F,
Dinh LV,
Keller AN,
Conigrave AD,
Capuano B,
Gregory KJ,
Leach K
J Mol Endocrinol
2022 May 9;69(1):243-257.
doi: 10.1530/JME-21-0263.
PMID: 35318962
Hannan FM,
Kallay E,
Chang W,
Brandi ML,
Thakker RV
Nat Rev Endocrinol
2018 Dec;15(1):33-51.
doi: 10.1038/s41574-018-0115-0.
PMID: 30443043Free PMC Article
Howles SA,
Hannan FM,
Gorvin CM,
Piret SE,
Paudyal A,
Stewart M,
Hough TA,
Nesbit MA,
Wells S,
Brown SD,
Cox RD,
Thakker RV
JCI Insight
2017 Oct 19;2(20)
doi: 10.1172/jci.insight.96540.
PMID: 29046478Free PMC Article
Marx SJ
J Clin Endocrinol Metab
2017 Nov 1;102(11):3933-3936.
doi: 10.1210/jc.2017-01606.
PMID: 28945857Free PMC Article
Prognosis
Bollerslev J,
Rejnmark L,
Zahn A,
Heck A,
Appelman-Dijkstra NM,
Cardoso L,
Hannan FM,
Cetani F,
Sikjær T,
Formenti AM,
Björnsdottir S,
Schalin-Jantti C,
Belaya Z,
Gibb FW,
Lapauw B,
Amrein K,
Wicke C,
Grasemann C,
Krebs M,
Ryhänen EM,
Makay O,
Minisola S,
Gaujoux S,
Bertocchio JP,
Hassan-Smith ZK,
Linglart A,
Winter EM,
Kollmann M,
Zmierczak HG,
Tsourdi E,
Pilz S,
Siggelkow H,
Gittoes NJ,
Marcocci C,
Kamenicky P;
2021 PARAT Working Group
Eur J Endocrinol
2022 Feb 1;186(2):R33-R63.
Epub 2022 Jan 13
doi: 10.1530/EJE-21-1044.
[Epub ahead of print]
PMID: 34863037Free PMC Article
Vannucci L,
Brandi ML
Front Horm Res
2019;51:52-62.
Epub 2018 Nov 19
doi: 10.1159/000491038.
PMID: 30641521
Lee JY,
Shoback DM
Best Pract Res Clin Endocrinol Metab
2018 Oct;32(5):609-619.
Epub 2018 May 26
doi: 10.1016/j.beem.2018.05.004.
PMID: 30449544Free PMC Article
Hannan FM,
Kallay E,
Chang W,
Brandi ML,
Thakker RV
Nat Rev Endocrinol
2018 Dec;15(1):33-51.
doi: 10.1038/s41574-018-0115-0.
PMID: 30443043Free PMC Article
Chou YH,
Pollak MR,
Brandi ML,
Toss G,
Arnqvist H,
Atkinson AB,
Papapoulos SE,
Marx S,
Brown EM,
Seidman JG
Am J Hum Genet
1995 May;56(5):1075-9.
PMID: 7726161Free PMC Article
Clinical prediction guides
Mazarico-Altisent I,
Capel I,
Baena N,
Bella-Cueto MR,
Barcons S,
Guirao X,
Pareja R,
Muntean A,
Arsentales V,
Caixàs A,
Rigla M
Front Endocrinol (Lausanne)
2023;14:1244361.
Epub 2023 Sep 21
doi: 10.3389/fendo.2023.1244361.
PMID: 37810884Free PMC Article
Goolam MA,
Brown AP,
Edwards KT,
Gregory KJ,
Leach K,
Conigrave AD
J Bone Miner Res
2022 Sep;37(9):1787-1807.
Epub 2022 Aug 14
doi: 10.1002/jbmr.4651.
PMID: 35848051Free PMC Article
Bollerslev J,
Rejnmark L,
Zahn A,
Heck A,
Appelman-Dijkstra NM,
Cardoso L,
Hannan FM,
Cetani F,
Sikjær T,
Formenti AM,
Björnsdottir S,
Schalin-Jantti C,
Belaya Z,
Gibb FW,
Lapauw B,
Amrein K,
Wicke C,
Grasemann C,
Krebs M,
Ryhänen EM,
Makay O,
Minisola S,
Gaujoux S,
Bertocchio JP,
Hassan-Smith ZK,
Linglart A,
Winter EM,
Kollmann M,
Zmierczak HG,
Tsourdi E,
Pilz S,
Siggelkow H,
Gittoes NJ,
Marcocci C,
Kamenicky P;
2021 PARAT Working Group
Eur J Endocrinol
2022 Feb 1;186(2):R33-R63.
Epub 2022 Jan 13
doi: 10.1530/EJE-21-1044.
[Epub ahead of print]
PMID: 34863037Free PMC Article
Wolf P,
Krššák M,
Winhofer Y,
Anderwald CH,
Zwettler E,
Just Kukurová I,
Gessl A,
Trattnig S,
Luger A,
Baumgartner-Parzer S,
Krebs M
J Clin Endocrinol Metab
2014 Sep;99(9):E1721-6.
Epub 2014 Jun 20
doi: 10.1210/jc.2014-1541.
PMID: 24947037
Chou YH,
Pollak MR,
Brandi ML,
Toss G,
Arnqvist H,
Atkinson AB,
Papapoulos SE,
Marx S,
Brown EM,
Seidman JG
Am J Hum Genet
1995 May;56(5):1075-9.
PMID: 7726161Free PMC Article