Etiology
Manara R,
Brotto D,
Bugin S,
Pelizza MF,
Sartori S,
Nosadini M,
Azzolini S,
Iaconetta G,
Parazzini C,
Murgia A,
Peron A,
Canevini P,
Labriola F,
Vignoli A,
Toldo I
Neuroradiology
2018 Aug;60(8):813-820.
Epub 2018 Jun 17
doi: 10.1007/s00234-018-2045-x.
PMID: 29909560
Bouilly J,
Messina A,
Papadakis G,
Cassatella D,
Xu C,
Acierno JS,
Tata B,
Sykiotis G,
Santini S,
Sidis Y,
Elowe-Gruau E,
Phan-Hug F,
Hauschild M,
Bouloux PM,
Quinton R,
Lang-Muritano M,
Favre L,
Marino L,
Giacobini P,
Dwyer AA,
Niederländer NJ,
Pitteloud N
Hum Mol Genet
2018 Jan 15;27(2):359-372.
doi: 10.1093/hmg/ddx408.
PMID: 29202173
Iolascon G,
Frizzi L,
Bianco M,
Gimigliano F,
Palumbo V,
Sinisi AM,
Sinisi AA
Aging Clin Exp Res
2015 Oct;27 Suppl 1:S31-6.
Epub 2015 Jul 23
doi: 10.1007/s40520-015-0421-5.
PMID: 26201943
Miraoui H,
Dwyer AA,
Sykiotis GP,
Plummer L,
Chung W,
Feng B,
Beenken A,
Clarke J,
Pers TH,
Dworzynski P,
Keefe K,
Niedziela M,
Raivio T,
Crowley WF Jr,
Seminara SB,
Quinton R,
Hughes VA,
Kumanov P,
Young J,
Yialamas MA,
Hall JE,
Van Vliet G,
Chanoine JP,
Rubenstein J,
Mohammadi M,
Tsai PS,
Sidis Y,
Lage K,
Pitteloud N
Am J Hum Genet
2013 May 2;92(5):725-43.
doi: 10.1016/j.ajhg.2013.04.008.
PMID: 23643382Free PMC Article
Kulkarni ML,
Balaji MD,
Kulkarni AM,
Sushanth S,
Kulkarni BM
Indian J Pediatr
2007 Dec;74(12):1113-5.
doi: 10.1007/s12098-007-0209-5.
PMID: 18174649
Diagnosis
Zeng W,
Li J,
Wang X,
Jiang F,
Men M
Zhong Nan Da Xue Xue Bao Yi Xue Ban
2022 Jul 28;47(7):847-857.
doi: 10.11817/j.issn.1672-7347.2022.220071.
PMID: 36039580Free PMC Article
Balasubramanian R,
Dwyer A,
Seminara SB,
Pitteloud N,
Kaiser UB,
Crowley WF Jr
Neuroendocrinology
2010;92(2):81-99.
Epub 2010 Jul 7
doi: 10.1159/000314193.
PMID: 20606386Free PMC Article
Dodé C,
Hardelin JP
Eur J Hum Genet
2009 Feb;17(2):139-46.
Epub 2008 Nov 5
doi: 10.1038/ejhg.2008.206.
PMID: 18985070Free PMC Article
Kulkarni ML,
Balaji MD,
Kulkarni AM,
Sushanth S,
Kulkarni BM
Indian J Pediatr
2007 Dec;74(12):1113-5.
doi: 10.1007/s12098-007-0209-5.
PMID: 18174649
Hall JE
Ann Endocrinol (Paris)
1999 Jul;60(2):93-101.
PMID: 10456179
Therapy
Dwyer AA,
McDonald IR,
Cangiano B,
Giovanelli L,
Maione L,
Silveira LFG,
Raivio T,
Latronico AC,
Young J,
Quinton R,
Bonomi M,
Persani L,
Seminara SB,
Lee CS
Lancet Diabetes Endocrinol
2024 Apr;12(4):257-266.
Epub 2024 Mar 1
doi: 10.1016/S2213-8587(24)00028-7.
PMID: 38437850Free PMC Article
Šmigoc Schweiger D,
Davidović Povše M,
Trebušak Podkrajšek K,
Battelino T,
Avbelj Stefanija M
Ital J Pediatr
2022 Nov 12;48(1):184.
doi: 10.1186/s13052-022-01377-5.
PMID: 36371229Free PMC Article
Iolascon G,
Frizzi L,
Bianco M,
Gimigliano F,
Palumbo V,
Sinisi AM,
Sinisi AA
Aging Clin Exp Res
2015 Oct;27 Suppl 1:S31-6.
Epub 2015 Jul 23
doi: 10.1007/s40520-015-0421-5.
PMID: 26201943
Kulkarni ML,
Balaji MD,
Kulkarni AM,
Sushanth S,
Kulkarni BM
Indian J Pediatr
2007 Dec;74(12):1113-5.
doi: 10.1007/s12098-007-0209-5.
PMID: 18174649
Hall JE
Ann Endocrinol (Paris)
1999 Jul;60(2):93-101.
PMID: 10456179
Prognosis
Dwyer AA,
McDonald IR,
Cangiano B,
Giovanelli L,
Maione L,
Silveira LFG,
Raivio T,
Latronico AC,
Young J,
Quinton R,
Bonomi M,
Persani L,
Seminara SB,
Lee CS
Lancet Diabetes Endocrinol
2024 Apr;12(4):257-266.
Epub 2024 Mar 1
doi: 10.1016/S2213-8587(24)00028-7.
PMID: 38437850Free PMC Article
Zeng W,
Li J,
Wang X,
Jiang F,
Men M
Zhong Nan Da Xue Xue Bao Yi Xue Ban
2022 Jul 28;47(7):847-857.
doi: 10.11817/j.issn.1672-7347.2022.220071.
PMID: 36039580Free PMC Article
Stamou MI,
Brand H,
Wang M,
Wong I,
Lippincott MF,
Plummer L,
Crowley WF,
Talkowski M,
Seminara S,
Balasubramanian R
J Clin Endocrinol Metab
2022 Jul 14;107(8):2228-2242.
doi: 10.1210/clinem/dgac300.
PMID: 35574646Free PMC Article
Miraoui H,
Dwyer AA,
Sykiotis GP,
Plummer L,
Chung W,
Feng B,
Beenken A,
Clarke J,
Pers TH,
Dworzynski P,
Keefe K,
Niedziela M,
Raivio T,
Crowley WF Jr,
Seminara SB,
Quinton R,
Hughes VA,
Kumanov P,
Young J,
Yialamas MA,
Hall JE,
Van Vliet G,
Chanoine JP,
Rubenstein J,
Mohammadi M,
Tsai PS,
Sidis Y,
Lage K,
Pitteloud N
Am J Hum Genet
2013 May 2;92(5):725-43.
doi: 10.1016/j.ajhg.2013.04.008.
PMID: 23643382Free PMC Article
Kulkarni ML,
Balaji MD,
Kulkarni AM,
Sushanth S,
Kulkarni BM
Indian J Pediatr
2007 Dec;74(12):1113-5.
doi: 10.1007/s12098-007-0209-5.
PMID: 18174649
Clinical prediction guides
Dwyer AA,
McDonald IR,
Cangiano B,
Giovanelli L,
Maione L,
Silveira LFG,
Raivio T,
Latronico AC,
Young J,
Quinton R,
Bonomi M,
Persani L,
Seminara SB,
Lee CS
Lancet Diabetes Endocrinol
2024 Apr;12(4):257-266.
Epub 2024 Mar 1
doi: 10.1016/S2213-8587(24)00028-7.
PMID: 38437850Free PMC Article
Zeng W,
Li J,
Wang X,
Jiang F,
Men M
Zhong Nan Da Xue Xue Bao Yi Xue Ban
2022 Jul 28;47(7):847-857.
doi: 10.11817/j.issn.1672-7347.2022.220071.
PMID: 36039580Free PMC Article
Stamou MI,
Brand H,
Wang M,
Wong I,
Lippincott MF,
Plummer L,
Crowley WF,
Talkowski M,
Seminara S,
Balasubramanian R
J Clin Endocrinol Metab
2022 Jul 14;107(8):2228-2242.
doi: 10.1210/clinem/dgac300.
PMID: 35574646Free PMC Article
Manara R,
Brotto D,
Bugin S,
Pelizza MF,
Sartori S,
Nosadini M,
Azzolini S,
Iaconetta G,
Parazzini C,
Murgia A,
Peron A,
Canevini P,
Labriola F,
Vignoli A,
Toldo I
Neuroradiology
2018 Aug;60(8):813-820.
Epub 2018 Jun 17
doi: 10.1007/s00234-018-2045-x.
PMID: 29909560
Miraoui H,
Dwyer AA,
Sykiotis GP,
Plummer L,
Chung W,
Feng B,
Beenken A,
Clarke J,
Pers TH,
Dworzynski P,
Keefe K,
Niedziela M,
Raivio T,
Crowley WF Jr,
Seminara SB,
Quinton R,
Hughes VA,
Kumanov P,
Young J,
Yialamas MA,
Hall JE,
Van Vliet G,
Chanoine JP,
Rubenstein J,
Mohammadi M,
Tsai PS,
Sidis Y,
Lage K,
Pitteloud N
Am J Hum Genet
2013 May 2;92(5):725-43.
doi: 10.1016/j.ajhg.2013.04.008.
PMID: 23643382Free PMC Article