Etiology
Sánchez-Pavón E,
Mendoza H,
García-Ferreyra J
JBRA Assist Reprod
2022 Jan 17;26(1):129-141.
doi: 10.5935/1518-0557.20210047.
PMID: 34542250Free PMC Article
Mardy AH,
Norton ME
Prenat Diagn
2021 Sep;41(10):1249-1254.
Epub 2021 Aug 25
doi: 10.1002/pd.6021.
PMID: 34386984
Scott F,
Bonifacio M,
Sandow R,
Ellis K,
Smet ME,
McLennan A
Prenat Diagn
2018 Sep;38(10):765-771.
Epub 2018 Jul 17
doi: 10.1002/pd.5325.
PMID: 29956348
Cereda A,
Carey JC
Orphanet J Rare Dis
2012 Oct 23;7:81.
doi: 10.1186/1750-1172-7-81.
PMID: 23088440Free PMC Article
Tartaglia NR,
Howell S,
Sutherland A,
Wilson R,
Wilson L
Orphanet J Rare Dis
2010 May 11;5:8.
doi: 10.1186/1750-1172-5-8.
PMID: 20459843Free PMC Article
Diagnosis
Kagan KO,
Sonek J,
Kozlowski P
Arch Gynecol Obstet
2022 Apr;305(4):825-835.
Epub 2022 Mar 13
doi: 10.1007/s00404-022-06477-5.
PMID: 35279726Free PMC Article
Cammarata-Scalisi F,
Araque D,
Ramírez R,
Guaran L,
Silva GD
Bol Med Hosp Infant Mex
2019;76(5):246-250.
doi: 10.24875/BMHIM.19000003.
PMID: 31536039
Harraway J
Aust Fam Physician
2017 Oct;46(10):735-739.
PMID: 29036772
Papavassiliou P,
Charalsawadi C,
Rafferty K,
Jackson-Cook C
Am J Med Genet A
2015 Jan;167A(1):26-39.
Epub 2014 Nov 20
doi: 10.1002/ajmg.a.36861.
PMID: 25412855
Cereda A,
Carey JC
Orphanet J Rare Dis
2012 Oct 23;7:81.
doi: 10.1186/1750-1172-7-81.
PMID: 23088440Free PMC Article
Therapy
Rose NC,
Barrie ES,
Malinowski J,
Jenkins GP,
McClain MR,
LaGrave D,
Leung ML;
ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net
Genet Med
2022 Jul;24(7):1379-1391.
Epub 2022 May 24
doi: 10.1016/j.gim.2022.03.019.
PMID: 35608568
Magdy M,
Abdel Karim N,
Eldessouki I,
Gaber O,
Rahouma M,
Ghareeb M
Oncol Res Treat
2019;42(4):224-229.
Epub 2019 Mar 6
doi: 10.1159/000497210.
PMID: 30840960
Gil MM,
Accurti V,
Santacruz B,
Plana MN,
Nicolaides KH
Ultrasound Obstet Gynecol
2017 Sep;50(3):302-314.
Epub 2017 Jul 27
doi: 10.1002/uog.17484.
PMID: 28397325
Norton ME,
Jacobsson B,
Swamy GK,
Laurent LC,
Ranzini AC,
Brar H,
Tomlinson MW,
Pereira L,
Spitz JL,
Hollemon D,
Cuckle H,
Musci TJ,
Wapner RJ
N Engl J Med
2015 Apr 23;372(17):1589-97.
Epub 2015 Apr 1
doi: 10.1056/NEJMoa1407349.
PMID: 25830321
Hartley D,
Blumenthal T,
Carrillo M,
DiPaolo G,
Esralew L,
Gardiner K,
Granholm AC,
Iqbal K,
Krams M,
Lemere C,
Lott I,
Mobley W,
Ness S,
Nixon R,
Potter H,
Reeves R,
Sabbagh M,
Silverman W,
Tycko B,
Whitten M,
Wisniewski T
Alzheimers Dement
2015 Jun;11(6):700-9.
Epub 2014 Dec 12
doi: 10.1016/j.jalz.2014.10.007.
PMID: 25510383Free PMC Article
Prognosis
van Prooyen Schuurman L,
Sistermans EA,
Van Opstal D,
Henneman L,
Bekker MN,
Bax CJ,
Pieters MJ,
Bouman K,
de Munnik S,
den Hollander NS,
Diderich KEM,
Faas BHW,
Feenstra I,
Go ATJI,
Hoffer MJV,
Joosten M,
Komdeur FL,
Lichtenbelt KD,
Lombardi MP,
Polak MG,
Jehee FS,
Schuring-Blom H,
Stevens SJC,
Srebniak MI,
Suijkerbuijk RF,
Tan-Sindhunata GM,
van der Meij KRM,
van Maarle MC,
Vernimmen V,
van Zelderen-Bhola SL,
van Ravesteyn NT,
Knapen MFCM,
Macville MVE,
Galjaard RH;
Dutch NIPT consortium
Am J Hum Genet
2022 Jun 2;109(6):1140-1152.
doi: 10.1016/j.ajhg.2022.04.018.
PMID: 35659929Free PMC Article
Saper VE,
Chen G,
Deutsch GH,
Guillerman RP,
Birgmeier J,
Jagadeesh K,
Canna S,
Schulert G,
Deterding R,
Xu J,
Leung AN,
Bouzoubaa L,
Abulaban K,
Baszis K,
Behrens EM,
Birmingham J,
Casey A,
Cidon M,
Cron RQ,
De A,
De Benedetti F,
Ferguson I,
Fishman MP,
Goodman SI,
Graham TB,
Grom AA,
Haines K,
Hazen M,
Henderson LA,
Ho A,
Ibarra M,
Inman CJ,
Jerath R,
Khawaja K,
Kingsbury DJ,
Klein-Gitelman M,
Lai K,
Lapidus S,
Lin C,
Lin J,
Liptzin DR,
Milojevic D,
Mombourquette J,
Onel K,
Ozen S,
Perez M,
Phillippi K,
Prahalad S,
Radhakrishna S,
Reinhardt A,
Riskalla M,
Rosenwasser N,
Roth J,
Schneider R,
Schonenberg-Meinema D,
Shenoi S,
Smith JA,
Sönmez HE,
Stoll ML,
Towe C,
Vargas SO,
Vehe RK,
Young LR,
Yang J,
Desai T,
Balise R,
Lu Y,
Tian L,
Bejerano G,
Davis MM,
Khatri P,
Mellins ED;
Childhood Arthritis and Rheumatology Research Alliance Registry Investigators
Ann Rheum Dis
2019 Dec;78(12):1722-1731.
Epub 2019 Sep 27
doi: 10.1136/annrheumdis-2019-216040.
PMID: 31562126Free PMC Article
Janvier A,
Farlow B,
Barrington KJ
Am J Med Genet C Semin Med Genet
2016 Sep;172(3):279-87.
Epub 2016 Aug 23
doi: 10.1002/ajmg.c.31526.
PMID: 27550159
Bischoff A,
Frischer J,
Dickie BH,
Peña A
Pediatr Surg Int
2014 Aug;30(8):763-6.
Epub 2014 Jun 27
doi: 10.1007/s00383-014-3527-5.
PMID: 24969816
Souka AP,
Von Kaisenberg CS,
Hyett JA,
Sonek JD,
Nicolaides KH
Am J Obstet Gynecol
2005 Apr;192(4):1005-21.
doi: 10.1016/j.ajog.2004.12.093.
PMID: 15846173
Clinical prediction guides
Zhu X,
Lam DYM,
Chau MHK,
Xue S,
Dai P,
Zhao G,
Cao Y,
Cheung SWH,
Kwok YKY,
Choy KW,
Kong X,
Leung TY
Genes (Basel)
2020 Dec 24;12(1)
doi: 10.3390/genes12010011.
PMID: 33374124Free PMC Article
Bishop JC,
McCormick B,
Johnson CT,
Miller J,
Jelin E,
Blakemore K,
Jelin AC
Fetal Diagn Ther
2020;47(2):98-103.
Epub 2019 Jun 5
doi: 10.1159/000500471.
PMID: 31167209Free PMC Article
Ertz-Archambault N,
Kelemen K
Panminerva Med
2017 Dec;59(4):308-319.
doi: 10.23736/S0031-0808.17.03380-8.
PMID: 29144072
Sachdev NM,
Maxwell SM,
Besser AG,
Grifo JA
Fertil Steril
2017 Jan;107(1):6-11.
Epub 2016 Nov 11
doi: 10.1016/j.fertnstert.2016.10.006.
PMID: 27842993
Santorum M,
Wright D,
Syngelaki A,
Karagioti N,
Nicolaides KH
Ultrasound Obstet Gynecol
2017 Jun;49(6):714-720.
Epub 2017 Apr 26
doi: 10.1002/uog.17283.
PMID: 27549925