Etiology
Li J,
Glover JD,
Zhang H,
Peng M,
Tan J,
Mallick CB,
Hou D,
Yang Y,
Wu S,
Liu Y,
Peng Q,
Zheng SC,
Crosse EI,
Medvinsky A,
Anderson RA,
Brown H,
Yuan Z,
Zhou S,
Xu Y,
Kemp JP,
Ho YYW,
Loesch DZ,
Wang L,
Li Y,
Tang S,
Wu X,
Walters RG,
Lin K,
Meng R,
Lv J,
Chernus JM,
Neiswanger K,
Feingold E,
Evans DM,
Medland SE,
Martin NG,
Weinberg SM,
Marazita ML,
Chen G,
Chen Z,
Zhou Y,
Cheeseman M,
Wang L,
Jin L,
Headon DJ,
Wang S
Cell
2022 Jan 6;185(1):95-112.e18.
doi: 10.1016/j.cell.2021.12.008.
PMID: 34995520Free PMC Article
Rajasekaran A,
Shivakumar V,
Kalmady SV,
Parlikar R,
Chhabra H,
Prabhu A,
Subbanna M,
Venugopal D,
Amaresha AC,
Agarwal SM,
Bose A,
Narayanaswamy JC,
Debnath M,
Venkatasubramanian G
Asian J Psychiatr
2020 Dec;54:102363.
Epub 2020 Aug 25
doi: 10.1016/j.ajp.2020.102363.
PMID: 33271685
Todd ES,
Scott NM,
Weese-Mayer DE,
Weinberg SM,
Berry-Kravis EM,
Silvestri JM,
Kenny AS,
Hauptman SA,
Zhou L,
Marazita ML
Pediatrics
2006 Aug;118(2):e408-14.
doi: 10.1542/peds.2005-3134.
PMID: 16882781
Der Kaloustian VM,
Naffah J,
Loiselet J
Am J Med Genet
1980;7(2):187-203.
doi: 10.1002/ajmg.1320070212.
PMID: 7468647
Dar H,
Schmidt R,
Nitowsky HM
Pediatr Res
1977 Feb;11(2):103-8.
doi: 10.1203/00006450-197702000-00004.
PMID: 138837
Diagnosis
Gooch C,
Souder JP,
Tedder ML,
Kerkhof J,
Lee JA,
Louie RJ,
Sadikovic B,
Fletcher RS,
Robin NH
Am J Med Genet A
2022 May;188(5):1550-1555.
Epub 2022 Jan 18
doi: 10.1002/ajmg.a.62652.
PMID: 35040536Free PMC Article
Mattison SM,
Brunson EK,
Holman DJ
Coll Antropol
2015 Sep;39(3):769-74.
PMID: 26898079
Micale L,
Augello B,
Fusco C,
Selicorni A,
Loviglio MN,
Silengo MC,
Reymond A,
Gumiero B,
Zucchetti F,
D'Addetta EV,
Belligni E,
Calcagnì A,
Digilio MC,
Dallapiccola B,
Faravelli F,
Forzano F,
Accadia M,
Bonfante A,
Clementi M,
Daolio C,
Douzgou S,
Ferrari P,
Fischetto R,
Garavelli L,
Lapi E,
Mattina T,
Melis D,
Patricelli MG,
Priolo M,
Prontera P,
Renieri A,
Mencarelli MA,
Scarano G,
della Monica M,
Toschi B,
Turolla L,
Vancini A,
Zatterale A,
Gabrielli O,
Zelante L,
Merla G
Orphanet J Rare Dis
2011 Jun 9;6:38.
doi: 10.1186/1750-1172-6-38.
PMID: 21658225Free PMC Article
Butler MG,
Meaney FJ,
Palmer CG
Am J Med Genet
1986 Mar;23(3):793-809.
doi: 10.1002/ajmg.1320230307.
PMID: 3953677Free PMC Article
Dar H,
Schmidt R,
Nitowsky HM
Pediatr Res
1977 Feb;11(2):103-8.
doi: 10.1203/00006450-197702000-00004.
PMID: 138837
Therapy
Biesecker LG,
Edwards M,
O'Donnell S,
Doherty P,
MacDougall T,
Tith K,
Kazakin J,
Schwartz B
Cold Spring Harb Mol Case Stud
2020 Feb;6(1)
Epub 2020 Feb 3
doi: 10.1101/mcs.a004549.
PMID: 32014856Free PMC Article
Borja T,
Karim N,
Goecker Z,
Salemi M,
Phinney B,
Naeem M,
Rice R,
Parker G
Forensic Sci Int Genet
2019 Sep;42:21-30.
Epub 2019 May 28
doi: 10.1016/j.fsigen.2019.05.005.
PMID: 31212206
Mattison SM,
Brunson EK,
Holman DJ
Coll Antropol
2015 Sep;39(3):769-74.
PMID: 26898079
Benderlioglu Z,
Nelson RJ
Horm Behav
2004 Dec;46(5):558-64.
doi: 10.1016/j.yhbeh.2004.06.004.
PMID: 15555497
Dar H,
Schmidt R,
Nitowsky HM
Pediatr Res
1977 Feb;11(2):103-8.
doi: 10.1203/00006450-197702000-00004.
PMID: 138837
Prognosis
Micale L,
Augello B,
Fusco C,
Selicorni A,
Loviglio MN,
Silengo MC,
Reymond A,
Gumiero B,
Zucchetti F,
D'Addetta EV,
Belligni E,
Calcagnì A,
Digilio MC,
Dallapiccola B,
Faravelli F,
Forzano F,
Accadia M,
Bonfante A,
Clementi M,
Daolio C,
Douzgou S,
Ferrari P,
Fischetto R,
Garavelli L,
Lapi E,
Mattina T,
Melis D,
Patricelli MG,
Priolo M,
Prontera P,
Renieri A,
Mencarelli MA,
Scarano G,
della Monica M,
Toschi B,
Turolla L,
Vancini A,
Zatterale A,
Gabrielli O,
Zelante L,
Merla G
Orphanet J Rare Dis
2011 Jun 9;6:38.
doi: 10.1186/1750-1172-6-38.
PMID: 21658225Free PMC Article
Benderlioglu Z,
Nelson RJ
Horm Behav
2004 Dec;46(5):558-64.
doi: 10.1016/j.yhbeh.2004.06.004.
PMID: 15555497
Tsukahara M,
Okabe T,
Ohtsuka M,
Furukawa S
Am J Med Genet
1995 Jul 3;57(3):444-6.
doi: 10.1002/ajmg.1320570316.
PMID: 7677148
Clinical prediction guides
Nkansah EO,
Ahenkorah J,
Adutwum-Ofosu K,
Adjei RL,
Adu-Aryee NA,
Tagoe EA,
Koney NK,
Aryee NA,
Hottor BA,
Blay RM,
Clegg-Lamptey JN,
Arko-Boham B
Pan Afr Med J
2022;43:209.
Epub 2022 Dec 28
doi: 10.11604/pamj.2022.43.209.33136.
PMID: 36942145Free PMC Article
Mattison SM,
Brunson EK,
Holman DJ
Coll Antropol
2015 Sep;39(3):769-74.
PMID: 26898079
Micale L,
Augello B,
Fusco C,
Selicorni A,
Loviglio MN,
Silengo MC,
Reymond A,
Gumiero B,
Zucchetti F,
D'Addetta EV,
Belligni E,
Calcagnì A,
Digilio MC,
Dallapiccola B,
Faravelli F,
Forzano F,
Accadia M,
Bonfante A,
Clementi M,
Daolio C,
Douzgou S,
Ferrari P,
Fischetto R,
Garavelli L,
Lapi E,
Mattina T,
Melis D,
Patricelli MG,
Priolo M,
Prontera P,
Renieri A,
Mencarelli MA,
Scarano G,
della Monica M,
Toschi B,
Turolla L,
Vancini A,
Zatterale A,
Gabrielli O,
Zelante L,
Merla G
Orphanet J Rare Dis
2011 Jun 9;6:38.
doi: 10.1186/1750-1172-6-38.
PMID: 21658225Free PMC Article
Butler MG,
Meaney FJ,
Palmer CG
Am J Med Genet
1986 Mar;23(3):793-809.
doi: 10.1002/ajmg.1320230307.
PMID: 3953677Free PMC Article
Dar H,
Schmidt R,
Nitowsky HM
Pediatr Res
1977 Feb;11(2):103-8.
doi: 10.1203/00006450-197702000-00004.
PMID: 138837