Etiology
Mardy AH,
Norton ME
Prenat Diagn
2021 Sep;41(10):1249-1254.
Epub 2021 Aug 25
doi: 10.1002/pd.6021.
PMID: 34386984
Obstet Gynecol
2016 May;127(5):e108-e122.
doi: 10.1097/AOG.0000000000001405.
PMID: 26938573
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
Zellweger H,
Ionasescu V,
Simpson J
J Genet Hum
1975 Mar;23(1):65-75.
PMID: 1165480
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
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
Rosa RF,
Rosa RC,
Zen PR,
Graziadio C,
Paskulin GA
Rev Paul Pediatr
2013 Jan-Mar;31(1):111-20.
doi: 10.1590/s0103-05822013000100018.
PMID: 23703053
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
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
Hassold T,
Hunt P
Nat Rev Genet
2001 Apr;2(4):280-91.
doi: 10.1038/35066065.
PMID: 11283700
Prognosis
Lum Min SA,
Imam M,
Zrinyi A,
Shawyer AC,
Keijzer R
Pediatr Surg Int
2023 Jul 25;39(1):239.
doi: 10.1007/s00383-023-05515-w.
PMID: 37490166
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
Caka C,
Cimen O,
Kahyaoğlu P,
Tezcan İ,
Cagdas D
Pediatr Allergy Immunol
2021 Aug;32(6):1327-1334.
Epub 2021 Mar 29
doi: 10.1111/pai.13497.
PMID: 33706406
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
Abruzzo MA,
Hassold TJ
Environ Mol Mutagen
1995;25 Suppl 26:38-47.
doi: 10.1002/em.2850250608.
PMID: 7789361
Clinical prediction guides
Yang SY,
Kang KM,
Kim SY,
Lim SY,
Jang HY,
Hong K,
Cha DH,
Shim SH,
Joung JG
Int J Mol Sci
2022 Nov 30;23(23)
doi: 10.3390/ijms232314990.
PMID: 36499318Free PMC Article
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
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
Witters I,
Fryns JR
Genet Couns
2007;18(1):1-7.
PMID: 17515296