Etiology
Roeper M,
Hoermann H,
Kummer S,
Meissner T
Front Endocrinol (Lausanne)
2023;14:1179102.
Epub 2023 Jun 8
doi: 10.3389/fendo.2023.1179102.
PMID: 37361517Free PMC Article
Douillard C,
Jannin A,
Vantyghem MC
Ann Endocrinol (Paris)
2020 Jun;81(2-3):110-117.
Epub 2020 Apr 10
doi: 10.1016/j.ando.2020.04.003.
PMID: 32409005
Gϋemes M,
Rahman SA,
Kapoor RR,
Flanagan S,
Houghton JAL,
Misra S,
Oliver N,
Dattani MT,
Shah P
Rev Endocr Metab Disord
2020 Dec;21(4):577-597.
doi: 10.1007/s11154-020-09548-7.
PMID: 32185602Free PMC Article
Rosenfeld E,
Ganguly A,
De Leon DD
Am J Med Genet C Semin Med Genet
2019 Dec;181(4):682-692.
Epub 2019 Aug 14
doi: 10.1002/ajmg.c.31737.
PMID: 31414570Free PMC Article
Demirbilek H,
Hussain K
J Clin Res Pediatr Endocrinol
2017 Dec 30;9(Suppl 2):69-87.
Epub 2017 Dec 27
doi: 10.4274/jcrpe.2017.S007.
PMID: 29280746Free PMC Article
Diagnosis
De Leon DD,
Arnoux JB,
Banerjee I,
Bergada I,
Bhatti T,
Conwell LS,
Fu J,
Flanagan SE,
Gillis D,
Meissner T,
Mohnike K,
Pasquini TLS,
Shah P,
Stanley CA,
Vella A,
Yorifuji T,
Thornton PS
Horm Res Paediatr
2024;97(3):279-298.
Epub 2023 Jul 14
doi: 10.1159/000531766.
PMID: 37454648Free PMC Article
Velde CD,
Reigstad H,
Tjora E,
Guthe HJT,
Hansen EV,
Molven A,
Njølstad PR
Tidsskr Nor Laegeforen
2023 Dec 12;143(18)
Epub 2023 Dec 11
doi: 10.4045/tidsskr.23.0425.
PMID: 38088279
Gϋemes M,
Rahman SA,
Kapoor RR,
Flanagan S,
Houghton JAL,
Misra S,
Oliver N,
Dattani MT,
Shah P
Rev Endocr Metab Disord
2020 Dec;21(4):577-597.
doi: 10.1007/s11154-020-09548-7.
PMID: 32185602Free PMC Article
Rosenfeld E,
Ganguly A,
De Leon DD
Am J Med Genet C Semin Med Genet
2019 Dec;181(4):682-692.
Epub 2019 Aug 14
doi: 10.1002/ajmg.c.31737.
PMID: 31414570Free PMC Article
Demirbilek H,
Hussain K
J Clin Res Pediatr Endocrinol
2017 Dec 30;9(Suppl 2):69-87.
Epub 2017 Dec 27
doi: 10.4274/jcrpe.2017.S007.
PMID: 29280746Free PMC Article
Therapy
De Leon DD,
Arnoux JB,
Banerjee I,
Bergada I,
Bhatti T,
Conwell LS,
Fu J,
Flanagan SE,
Gillis D,
Meissner T,
Mohnike K,
Pasquini TLS,
Shah P,
Stanley CA,
Vella A,
Yorifuji T,
Thornton PS
Horm Res Paediatr
2024;97(3):279-298.
Epub 2023 Jul 14
doi: 10.1159/000531766.
PMID: 37454648Free PMC Article
Giri D,
Hawton K,
Senniappan S
J Pediatr Endocrinol Metab
2022 Mar 28;35(3):279-296.
Epub 2021 Sep 21
doi: 10.1515/jpem-2021-0369.
PMID: 34547194
Brar PC,
Heksch R,
Cossen K,
De Leon DD,
Kamboj MK,
Marks SD,
Marshall BA,
Miller R,
Page L,
Stanley T,
Mitchell D,
Thornton P
J Clin Endocrinol Metab
2020 Dec 1;105(12)
doi: 10.1210/clinem/dgaa543.
PMID: 32810255
Gomes-Porras M,
Cárdenas-Salas J,
Álvarez-Escolá C
Int J Mol Sci
2020 Feb 29;21(5)
doi: 10.3390/ijms21051682.
PMID: 32121432Free PMC Article
Güemes M,
Hussain K
Pediatr Clin North Am
2015 Aug;62(4):1017-36.
Epub 2015 May 13
doi: 10.1016/j.pcl.2015.04.010.
PMID: 26210630
Prognosis
Velde CD,
Reigstad H,
Tjora E,
Guthe HJT,
Hansen EV,
Molven A,
Njølstad PR
Tidsskr Nor Laegeforen
2023 Dec 12;143(18)
Epub 2023 Dec 11
doi: 10.4045/tidsskr.23.0425.
PMID: 38088279
Sims K
Neoreviews
2021 Apr;22(4):e230-e240.
doi: 10.1542/neo.22-4-e230.
PMID: 33795398
Rosenfeld E,
Ganguly A,
De Leon DD
Am J Med Genet C Semin Med Genet
2019 Dec;181(4):682-692.
Epub 2019 Aug 14
doi: 10.1002/ajmg.c.31737.
PMID: 31414570Free PMC Article
Snider KE,
Becker S,
Boyajian L,
Shyng SL,
MacMullen C,
Hughes N,
Ganapathy K,
Bhatti T,
Stanley CA,
Ganguly A
J Clin Endocrinol Metab
2013 Feb;98(2):E355-63.
Epub 2012 Dec 28
doi: 10.1210/jc.2012-2169.
PMID: 23275527Free PMC Article
Osbak KK,
Colclough K,
Saint-Martin C,
Beer NL,
Bellanné-Chantelot C,
Ellard S,
Gloyn AL
Hum Mutat
2009 Nov;30(11):1512-26.
doi: 10.1002/humu.21110.
PMID: 19790256
Clinical prediction guides
Stanley CA,
De Leon DD
Adv Pediatr
2024 Aug;71(1):119-134.
Epub 2024 Apr 23
doi: 10.1016/j.yapd.2024.03.001.
PMID: 38944478
Zenker M,
Mohnike K,
Palm K
Front Endocrinol (Lausanne)
2023;14:1013874.
Epub 2023 Mar 30
doi: 10.3389/fendo.2023.1013874.
PMID: 37065762Free PMC Article
Rosenfeld E,
Ganguly A,
De Leon DD
Am J Med Genet C Semin Med Genet
2019 Dec;181(4):682-692.
Epub 2019 Aug 14
doi: 10.1002/ajmg.c.31737.
PMID: 31414570Free PMC Article
Arya VB,
Mohammed Z,
Blankenstein O,
De Lonlay P,
Hussain K
Horm Metab Res
2014 Mar;46(3):157-70.
Epub 2014 Feb 20
doi: 10.1055/s-0034-1367063.
PMID: 24557504
Snider KE,
Becker S,
Boyajian L,
Shyng SL,
MacMullen C,
Hughes N,
Ganapathy K,
Bhatti T,
Stanley CA,
Ganguly A
J Clin Endocrinol Metab
2013 Feb;98(2):E355-63.
Epub 2012 Dec 28
doi: 10.1210/jc.2012-2169.
PMID: 23275527Free PMC Article