Etiology
Harteveld CL,
Achour A,
Arkesteijn SJG,
Ter Huurne J,
Verschuren M,
Bhagwandien-Bisoen S,
Schaap R,
Vijfhuizen L,
El Idrissi H,
Koopmann TT
Int J Lab Hematol
2022 Sep;44 Suppl 1(Suppl 1):28-36.
doi: 10.1111/ijlh.13885.
PMID: 36074711Free PMC Article
Bharucha-Goebel DX,
Norato G,
Saade D,
Paredes E,
Biancavilla V,
Donkervoort S,
Kaur R,
Lehky T,
Fink M,
Armao D,
Gray SJ,
Waite M,
Debs S,
Averion G,
Hu Y,
Zein WM,
Foley AR,
Jain M,
Bönnemann CG
Brain
2021 Nov 29;144(10):3239-3250.
doi: 10.1093/brain/awab179.
PMID: 34114613Free PMC Article
Coffey AJ,
Durkie M,
Hague S,
McLay K,
Emmerson J,
Lo C,
Klaffke S,
Joyce CJ,
Dhawan A,
Hadzic N,
Mieli-Vergani G,
Kirk R,
Elizabeth Allen K,
Nicholl D,
Wong S,
Griffiths W,
Smithson S,
Giffin N,
Taha A,
Connolly S,
Gillett GT,
Tanner S,
Bonham J,
Sharrack B,
Palotie A,
Rattray M,
Dalton A,
Bandmann O
Brain
2013 May;136(Pt 5):1476-87.
Epub 2013 Mar 21
doi: 10.1093/brain/awt035.
PMID: 23518715Free PMC Article
Ismail D,
Smith VV,
de Lonlay P,
Ribeiro MJ,
Rahier J,
Blankenstein O,
Flanagan SE,
Bellanné-Chantelot C,
Verkarre V,
Aigrain Y,
Pierro A,
Ellard S,
Hussain K
J Clin Endocrinol Metab
2011 Jan;96(1):24-8.
Epub 2010 Oct 13
doi: 10.1210/jc.2010-1524.
PMID: 20943779Free PMC Article
Castanet M,
Polak M
Horm Res Paediatr
2010;73(6):423-9.
Epub 2010 May 6
doi: 10.1159/000281438.
PMID: 20453517
Diagnosis
Yamada M,
Okuno H,
Okamoto N,
Suzuki H,
Miya F,
Takenouchi T,
Kosaki K
Eur J Med Genet
2023 Feb;66(2):104690.
Epub 2022 Dec 30
doi: 10.1016/j.ejmg.2022.104690.
PMID: 36587803
Harteveld CL,
Achour A,
Arkesteijn SJG,
Ter Huurne J,
Verschuren M,
Bhagwandien-Bisoen S,
Schaap R,
Vijfhuizen L,
El Idrissi H,
Koopmann TT
Int J Lab Hematol
2022 Sep;44 Suppl 1(Suppl 1):28-36.
doi: 10.1111/ijlh.13885.
PMID: 36074711Free PMC Article
Baker SW,
Ryan E,
Kalish JM,
Ganguly A
Prenat Diagn
2021 Jun;41(7):817-822.
Epub 2021 May 18
doi: 10.1002/pd.5953.
PMID: 33974722
Jüppner H
J Clin Endocrinol Metab
2021 May 13;106(6):1541-1552.
doi: 10.1210/clinem/dgab060.
PMID: 33529330Free PMC Article
Coffey AJ,
Durkie M,
Hague S,
McLay K,
Emmerson J,
Lo C,
Klaffke S,
Joyce CJ,
Dhawan A,
Hadzic N,
Mieli-Vergani G,
Kirk R,
Elizabeth Allen K,
Nicholl D,
Wong S,
Griffiths W,
Smithson S,
Giffin N,
Taha A,
Connolly S,
Gillett GT,
Tanner S,
Bonham J,
Sharrack B,
Palotie A,
Rattray M,
Dalton A,
Bandmann O
Brain
2013 May;136(Pt 5):1476-87.
Epub 2013 Mar 21
doi: 10.1093/brain/awt035.
PMID: 23518715Free PMC Article
Therapy
Akutsu SN,
Miyamoto T,
Oba D,
Tomioka K,
Ochiai H,
Ohashi H,
Matsuura S
PLoS One
2022;17(3):e0264965.
Epub 2022 Mar 10
doi: 10.1371/journal.pone.0264965.
PMID: 35271616Free PMC Article
Bharucha-Goebel DX,
Norato G,
Saade D,
Paredes E,
Biancavilla V,
Donkervoort S,
Kaur R,
Lehky T,
Fink M,
Armao D,
Gray SJ,
Waite M,
Debs S,
Averion G,
Hu Y,
Zein WM,
Foley AR,
Jain M,
Bönnemann CG
Brain
2021 Nov 29;144(10):3239-3250.
doi: 10.1093/brain/awab179.
PMID: 34114613Free PMC Article
Buza N,
McGregor SM,
Barroilhet L,
Zheng X,
Hui P
Mod Pathol
2019 Jul;32(8):1180-1188.
Epub 2019 Apr 5
doi: 10.1038/s41379-019-0266-0.
PMID: 30952972
Garcin L,
Kariyawasam D,
Busiah K,
Fauret-Amsellem AL,
Le Bourgeois F,
Vaivre-Douret L,
Cavé H,
Polak M,
Beltrand J
Pediatr Diabetes
2018 Jun;19(4):663-669.
Epub 2018 Mar 4
doi: 10.1111/pedi.12635.
PMID: 29504184
Hussain K,
Flanagan SE,
Smith VV,
Ashworth M,
Day M,
Pierro A,
Ellard S
Diabetes
2008 Jan;57(1):259-63.
Epub 2007 Oct 17
doi: 10.2337/db07-0998.
PMID: 17942822
Prognosis
Cranston T,
Boon H,
Olesen MK,
Ryan FJ,
Shears D,
London R,
Rostom H,
Elajnaf T,
Thakker RV,
Hannan FM
Eur J Endocrinol
2022 May 24;187(1):111-122.
doi: 10.1530/EJE-21-0730.
PMID: 35521792Free PMC Article
Cassini TA,
Robertson AK,
Bican AG,
Cogan JD,
Hannig VL,
Newman JH,
Hamid R,
Phillips JA 3rd;
Undiagnosed Diseases Network
Am J Med Genet A
2018 May;176(5):1175-1179.
Epub 2018 Jan 17
doi: 10.1002/ajmg.a.38493.
PMID: 29341437Free PMC Article
Coffey AJ,
Durkie M,
Hague S,
McLay K,
Emmerson J,
Lo C,
Klaffke S,
Joyce CJ,
Dhawan A,
Hadzic N,
Mieli-Vergani G,
Kirk R,
Elizabeth Allen K,
Nicholl D,
Wong S,
Griffiths W,
Smithson S,
Giffin N,
Taha A,
Connolly S,
Gillett GT,
Tanner S,
Bonham J,
Sharrack B,
Palotie A,
Rattray M,
Dalton A,
Bandmann O
Brain
2013 May;136(Pt 5):1476-87.
Epub 2013 Mar 21
doi: 10.1093/brain/awt035.
PMID: 23518715Free PMC Article
Asselta R,
Duga S,
Tenchini ML
J Thromb Haemost
2006 Oct;4(10):2115-29.
doi: 10.1111/j.1538-7836.2006.02094.x.
PMID: 16999847
Shield JP
Horm Res
2000;53 Suppl 1:7-11.
doi: 10.1159/000053198.
PMID: 10895036
Clinical prediction guides
Jüppner H
J Clin Endocrinol Metab
2021 May 13;106(6):1541-1552.
doi: 10.1210/clinem/dgab060.
PMID: 33529330Free PMC Article
Tafaj O,
Jüppner H
J Endocrinol Invest
2017 Apr;40(4):347-356.
Epub 2016 Dec 19
doi: 10.1007/s40618-016-0588-4.
PMID: 27995443
Coffey AJ,
Durkie M,
Hague S,
McLay K,
Emmerson J,
Lo C,
Klaffke S,
Joyce CJ,
Dhawan A,
Hadzic N,
Mieli-Vergani G,
Kirk R,
Elizabeth Allen K,
Nicholl D,
Wong S,
Griffiths W,
Smithson S,
Giffin N,
Taha A,
Connolly S,
Gillett GT,
Tanner S,
Bonham J,
Sharrack B,
Palotie A,
Rattray M,
Dalton A,
Bandmann O
Brain
2013 May;136(Pt 5):1476-87.
Epub 2013 Mar 21
doi: 10.1093/brain/awt035.
PMID: 23518715Free PMC Article
Castanet M,
Polak M
Horm Res Paediatr
2010;73(6):423-9.
Epub 2010 May 6
doi: 10.1159/000281438.
PMID: 20453517
Eriksson M,
Brown WT,
Gordon LB,
Glynn MW,
Singer J,
Scott L,
Erdos MR,
Robbins CM,
Moses TY,
Berglund P,
Dutra A,
Pak E,
Durkin S,
Csoka AB,
Boehnke M,
Glover TW,
Collins FS
Nature
2003 May 15;423(6937):293-8.
Epub 2003 Apr 25
doi: 10.1038/nature01629.
PMID: 12714972Free PMC Article