Etiology
van Bosse HJP,
Butler MG
Genes (Basel)
2020 Feb 28;11(3)
doi: 10.3390/genes11030260.
PMID: 32121146Free PMC Article
Haltrich I
Exp Suppl
2019;111:443-473.
doi: 10.1007/978-3-030-25905-1_20.
PMID: 31588543
Manzardo AM,
Weisensel N,
Ayala S,
Hossain W,
Butler MG
Clin Genet
2018 Mar;93(3):622-631.
Epub 2018 Feb 5
doi: 10.1111/cge.13142.
PMID: 28984907Free PMC Article
Bennett JA,
Germani T,
Haqq AM,
Zwaigenbaum L
Am J Med Genet A
2015 Dec;167A(12):2936-44.
Epub 2015 Aug 29
doi: 10.1002/ajmg.a.37286.
PMID: 26331980
Eggermann T
Am J Med Genet C Semin Med Genet
2010 Aug 15;154C(3):355-64.
doi: 10.1002/ajmg.c.30274.
PMID: 20803658
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
Napolitano L,
Barone B,
Morra S,
Celentano G,
La Rocca R,
Capece M,
Morgera V,
Turco C,
Caputo VF,
Spena G,
Romano L,
De Luca L,
Califano G,
Collà Ruvolo C,
Mangiapia F,
Mirone V,
Longo N,
Creta M
Int J Mol Sci
2021 Feb 17;22(4)
doi: 10.3390/ijms22041993.
PMID: 33671467Free PMC Article
Kalsner L,
Chamberlain SJ
Pediatr Clin North Am
2015 Jun;62(3):587-606.
Epub 2015 Apr 22
doi: 10.1016/j.pcl.2015.03.004.
PMID: 26022164Free PMC Article
Eggermann T
Am J Med Genet C Semin Med Genet
2010 Aug 15;154C(3):355-64.
doi: 10.1002/ajmg.c.30274.
PMID: 20803658
Cassidy SB
J Med Genet
1997 Nov;34(11):917-23.
doi: 10.1136/jmg.34.11.917.
PMID: 9391886Free PMC Article
Therapy
Oldzej J,
Manazir J,
Gold JA,
Mahmoud R,
Osann K,
Flodman P,
Cassidy SB,
Kimonis VE
Am J Med Genet A
2020 Jan;182(1):169-175.
Epub 2019 Nov 29
doi: 10.1002/ajmg.a.61408.
PMID: 31782896
Botezatu A,
Puiu M,
Cucu N,
Diaconu CC,
Badiu C,
Arsene C,
Iancu IV,
Plesa A,
Anton G
Gene
2016 Jan 10;575(2 Pt 1):353-8.
Epub 2015 Sep 1
doi: 10.1016/j.gene.2015.08.058.
PMID: 26335514
Amor DJ,
Halliday J
Hum Reprod
2008 Dec;23(12):2826-34.
Epub 2008 Aug 14
doi: 10.1093/humrep/den310.
PMID: 18703582
Lalande M,
Calciano MA
Cell Mol Life Sci
2007 Apr;64(7-8):947-60.
doi: 10.1007/s00018-007-6460-0.
PMID: 17347796
Wharton RH,
Loechner KJ
Curr Opin Pediatr
1996 Dec;8(6):618-24.
doi: 10.1097/00008480-199612000-00013.
PMID: 9018447
Prognosis
Zhang K,
Liu S,
Feng B,
Yang Y,
Zhang H,
Dong R,
Liu Y,
Gai Z
PLoS One
2016;11(2):e0147824.
Epub 2016 Feb 3
doi: 10.1371/journal.pone.0147824.
PMID: 26841067Free PMC Article
Adams DJ,
Clark DA
Pediatr Clin North Am
2015 Apr;62(2):411-26.
Epub 2015 Jan 22
doi: 10.1016/j.pcl.2014.11.005.
PMID: 25836705
Butler MG
J Assist Reprod Genet
2009 Sep-Oct;26(9-10):477-86.
Epub 2009 Oct 21
doi: 10.1007/s10815-009-9353-3.
PMID: 19844787Free PMC Article
Veltman MW,
Craig EE,
Bolton PF
Psychiatr Genet
2005 Dec;15(4):243-54.
doi: 10.1097/00041444-200512000-00006.
PMID: 16314754
Veltman MW,
Thompson RJ,
Roberts SE,
Thomas NS,
Whittington J,
Bolton PF
Eur Child Adolesc Psychiatry
2004 Feb;13(1):42-50.
doi: 10.1007/s00787-004-0354-6.
PMID: 14991431
Clinical prediction guides
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
van Bosse HJP,
Butler MG
Genes (Basel)
2020 Feb 28;11(3)
doi: 10.3390/genes11030260.
PMID: 32121146Free PMC Article
Manzardo AM,
Weisensel N,
Ayala S,
Hossain W,
Butler MG
Clin Genet
2018 Mar;93(3):622-631.
Epub 2018 Feb 5
doi: 10.1111/cge.13142.
PMID: 28984907Free PMC Article
Eggermann T
Am J Med Genet C Semin Med Genet
2010 Aug 15;154C(3):355-64.
doi: 10.1002/ajmg.c.30274.
PMID: 20803658
Walter J,
Paulsen M
Semin Cell Dev Biol
2003 Feb;14(1):101-10.
doi: 10.1016/s1084-9521(02)00142-8.
PMID: 12524013