Etiology
Zhang J,
Ban T,
Zhou L,
Ji H,
Yan H,
Shi Z,
Cao B,
Jiang Y,
Wang J,
Wu Y
J Neurol
2020 Sep;267(9):2612-2618.
Epub 2020 May 9
doi: 10.1007/s00415-020-09889-y.
PMID: 32388833
Pinto D,
Delaby E,
Merico D,
Barbosa M,
Merikangas A,
Klei L,
Thiruvahindrapuram B,
Xu X,
Ziman R,
Wang Z,
Vorstman JA,
Thompson A,
Regan R,
Pilorge M,
Pellecchia G,
Pagnamenta AT,
Oliveira B,
Marshall CR,
Magalhaes TR,
Lowe JK,
Howe JL,
Griswold AJ,
Gilbert J,
Duketis E,
Dombroski BA,
De Jonge MV,
Cuccaro M,
Crawford EL,
Correia CT,
Conroy J,
Conceição IC,
Chiocchetti AG,
Casey JP,
Cai G,
Cabrol C,
Bolshakova N,
Bacchelli E,
Anney R,
Gallinger S,
Cotterchio M,
Casey G,
Zwaigenbaum L,
Wittemeyer K,
Wing K,
Wallace S,
van Engeland H,
Tryfon A,
Thomson S,
Soorya L,
Rogé B,
Roberts W,
Poustka F,
Mouga S,
Minshew N,
McInnes LA,
McGrew SG,
Lord C,
Leboyer M,
Le Couteur AS,
Kolevzon A,
Jiménez González P,
Jacob S,
Holt R,
Guter S,
Green J,
Green A,
Gillberg C,
Fernandez BA,
Duque F,
Delorme R,
Dawson G,
Chaste P,
Café C,
Brennan S,
Bourgeron T,
Bolton PF,
Bölte S,
Bernier R,
Baird G,
Bailey AJ,
Anagnostou E,
Almeida J,
Wijsman EM,
Vieland VJ,
Vicente AM,
Schellenberg GD,
Pericak-Vance M,
Paterson AD,
Parr JR,
Oliveira G,
Nurnberger JI,
Monaco AP,
Maestrini E,
Klauck SM,
Hakonarson H,
Haines JL,
Geschwind DH,
Freitag CM,
Folstein SE,
Ennis S,
Coon H,
Battaglia A,
Szatmari P,
Sutcliffe JS,
Hallmayer J,
Gill M,
Cook EH,
Buxbaum JD,
Devlin B,
Gallagher L,
Betancur C,
Scherer SW
Am J Hum Genet
2014 May 1;94(5):677-94.
Epub 2014 Apr 24
doi: 10.1016/j.ajhg.2014.03.018.
PMID: 24768552Free PMC Article
Dell'Amico MC,
Vivani P,
Miccoli M,
Cecconi M,
Baggiani A
Ann Ig
2011 Jan-Feb;23(1):71-9.
PMID: 21736009
Moser HW,
Moser AB,
Hollandsworth K,
Brereton NH,
Raymond GV
J Mol Neurosci
2007 Sep;33(1):105-13.
doi: 10.1007/s12031-007-0041-4.
PMID: 17901554
Laxova R
Adv Pediatr
1994;41:305-42.
PMID: 7992687
Diagnosis
Zhang J,
Ban T,
Zhou L,
Ji H,
Yan H,
Shi Z,
Cao B,
Jiang Y,
Wang J,
Wu Y
J Neurol
2020 Sep;267(9):2612-2618.
Epub 2020 May 9
doi: 10.1007/s00415-020-09889-y.
PMID: 32388833
Zhu J,
Eichler F,
Biffi A,
Duncan CN,
Williams DA,
Majzoub JA
Endocr Rev
2020 Aug 1;41(4):577-93.
doi: 10.1210/endrev/bnaa013.
PMID: 32364223Free PMC Article
Kim J,
Parikh P,
Mahboob M,
Arrighi JA,
Atalay MK,
Rowin EJ,
Maron MS
Tex Heart Inst J
2014 Jun;41(3):332-4.
Epub 2014 Jun 1
doi: 10.14503/THIJ-13-3279.
PMID: 24955057Free PMC Article
Neri G,
Chiurazzi P
Adv Genet
1999;41:55-94.
doi: 10.1016/s0065-2660(08)60151-0.
PMID: 10494617
Laxova R
Adv Pediatr
1994;41:305-42.
PMID: 7992687
Therapy
Zhu J,
Eichler F,
Biffi A,
Duncan CN,
Williams DA,
Majzoub JA
Endocr Rev
2020 Aug 1;41(4):577-93.
doi: 10.1210/endrev/bnaa013.
PMID: 32364223Free PMC Article
Groeneweg S,
van Geest FS,
Peeters RP,
Heuer H,
Visser WE
Endocr Rev
2020 Apr 1;41(2)
doi: 10.1210/endrev/bnz008.
PMID: 31754699
Moser HW,
Moser AB,
Hollandsworth K,
Brereton NH,
Raymond GV
J Mol Neurosci
2007 Sep;33(1):105-13.
doi: 10.1007/s12031-007-0041-4.
PMID: 17901554
Kodama H,
Murata Y,
Kobayashi M
Pediatr Int
1999 Aug;41(4):423-9.
doi: 10.1046/j.1442-200x.1999.01095.x.
PMID: 10453199
Laxova R
Adv Pediatr
1994;41:305-42.
PMID: 7992687
Prognosis
Bozarth XL,
Lopez J,
Fang H,
Lee-Eng J,
Duan Z,
Deng X
Genes (Basel)
2023 Mar 31;14(4)
doi: 10.3390/genes14040852.
PMID: 37107610Free PMC Article
Zhu J,
Eichler F,
Biffi A,
Duncan CN,
Williams DA,
Majzoub JA
Endocr Rev
2020 Aug 1;41(4):577-93.
doi: 10.1210/endrev/bnaa013.
PMID: 32364223Free PMC Article
Kim J,
Parikh P,
Mahboob M,
Arrighi JA,
Atalay MK,
Rowin EJ,
Maron MS
Tex Heart Inst J
2014 Jun;41(3):332-4.
Epub 2014 Jun 1
doi: 10.14503/THIJ-13-3279.
PMID: 24955057Free PMC Article
Lee EY,
Chung HJ,
Ki CS,
Yoo JH,
Choi JR
Ann Clin Lab Sci
2011 Fall;41(1):93-6.
PMID: 21325263
Betsalel OT,
Rosenberg EH,
Almeida LS,
Kleefstra T,
Schwartz CE,
Valayannopoulos V,
Abdul-Rahman O,
Poplawski N,
Vilarinho L,
Wolf P,
den Dunnen JT,
Jakobs C,
Salomons GS
Eur J Hum Genet
2011 Jan;19(1):56-63.
Epub 2010 Aug 18
doi: 10.1038/ejhg.2010.134.
PMID: 20717164Free PMC Article
Clinical prediction guides
Gras M,
Heide S,
Keren B,
Valence S,
Garel C,
Whalen S,
Jansen AC,
Keymolen K,
Stouffs K,
Jennesson M,
Poirsier C,
Lesca G,
Depienne C,
Nava C,
Rastetter A,
Curie A,
Cuisset L,
Des Portes V,
Milh M,
Charles P,
Mignot C,
Héron D
J Med Genet
2024 Jan 19;61(2):103-108.
doi: 10.1136/jmg-2023-109203.
PMID: 37879892
Bozarth XL,
Lopez J,
Fang H,
Lee-Eng J,
Duan Z,
Deng X
Genes (Basel)
2023 Mar 31;14(4)
doi: 10.3390/genes14040852.
PMID: 37107610Free PMC Article
Zhang J,
Ban T,
Zhou L,
Ji H,
Yan H,
Shi Z,
Cao B,
Jiang Y,
Wang J,
Wu Y
J Neurol
2020 Sep;267(9):2612-2618.
Epub 2020 May 9
doi: 10.1007/s00415-020-09889-y.
PMID: 32388833
Kim J,
Parikh P,
Mahboob M,
Arrighi JA,
Atalay MK,
Rowin EJ,
Maron MS
Tex Heart Inst J
2014 Jun;41(3):332-4.
Epub 2014 Jun 1
doi: 10.14503/THIJ-13-3279.
PMID: 24955057Free PMC Article
Tarpey PS,
Smith R,
Pleasance E,
Whibley A,
Edkins S,
Hardy C,
O'Meara S,
Latimer C,
Dicks E,
Menzies A,
Stephens P,
Blow M,
Greenman C,
Xue Y,
Tyler-Smith C,
Thompson D,
Gray K,
Andrews J,
Barthorpe S,
Buck G,
Cole J,
Dunmore R,
Jones D,
Maddison M,
Mironenko T,
Turner R,
Turrell K,
Varian J,
West S,
Widaa S,
Wray P,
Teague J,
Butler A,
Jenkinson A,
Jia M,
Richardson D,
Shepherd R,
Wooster R,
Tejada MI,
Martinez F,
Carvill G,
Goliath R,
de Brouwer AP,
van Bokhoven H,
Van Esch H,
Chelly J,
Raynaud M,
Ropers HH,
Abidi FE,
Srivastava AK,
Cox J,
Luo Y,
Mallya U,
Moon J,
Parnau J,
Mohammed S,
Tolmie JL,
Shoubridge C,
Corbett M,
Gardner A,
Haan E,
Rujirabanjerd S,
Shaw M,
Vandeleur L,
Fullston T,
Easton DF,
Boyle J,
Partington M,
Hackett A,
Field M,
Skinner C,
Stevenson RE,
Bobrow M,
Turner G,
Schwartz CE,
Gecz J,
Raymond FL,
Futreal PA,
Stratton MR
Nat Genet
2009 May;41(5):535-43.
Epub 2009 Apr 19
doi: 10.1038/ng.367.
PMID: 19377476Free PMC Article