Etiology
Leigh D,
Cram DS,
Rechitsky S,
Handyside A,
Wells D,
Munne S,
Kahraman S,
Grifo J,
Katz-Jaffe M,
Rubio C,
Viotti M,
Forman E,
Xu K,
Gordon T,
Madjunkova S,
Qiao J,
Chen ZJ,
Harton G,
Gianaroli L,
Simon C,
Scott R,
Simpson JL,
Kuliev A
Reprod Biomed Online
2022 Jul;45(1):19-25.
Epub 2022 Mar 20
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PMID: 35523707
Capalbo A,
Poli M,
Rienzi L,
Girardi L,
Patassini C,
Fabiani M,
Cimadomo D,
Benini F,
Farcomeni A,
Cuzzi J,
Rubio C,
Albani E,
Sacchi L,
Vaiarelli A,
Figliuzzi M,
Findikli N,
Coban O,
Boynukalin FK,
Vogel I,
Hoffmann E,
Livi C,
Levi-Setti PE,
Ubaldi FM,
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Am J Hum Genet
2021 Dec 2;108(12):2238-2247.
Epub 2021 Nov 18
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PMID: 34798051Free PMC Article
Treff NR,
Marin D
Fertil Steril
2021 Nov;116(5):1205-1211.
Epub 2021 Jul 23
doi: 10.1016/j.fertnstert.2021.06.027.
PMID: 34304887
Popovic M,
Dhaenens L,
Boel A,
Menten B,
Heindryckx B
Hum Reprod Update
2020 Apr 15;26(3):313-334.
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PMID: 32141501
Machiela MJ
Curr Opin Oncol
2019 Mar;31(2):108-113.
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PMID: 30585859Free PMC Article
Diagnosis
Schaffer JV
Clin Dermatol
2022 Jul-Aug;40(4):322-338.
Epub 2022 Mar 12
doi: 10.1016/j.clindermatol.2022.02.005.
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Treff NR,
Marin D
Fertil Steril
2021 Nov;116(5):1205-1211.
Epub 2021 Jul 23
doi: 10.1016/j.fertnstert.2021.06.027.
PMID: 34304887
Eggenhuizen GM,
Go A,
Koster MPH,
Baart EB,
Galjaard RJ
Hum Reprod Update
2021 Aug 20;27(5):885-903.
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PMID: 33984128Free PMC Article
Popovic M,
Dhaenens L,
Boel A,
Menten B,
Heindryckx B
Hum Reprod Update
2020 Apr 15;26(3):313-334.
doi: 10.1093/humupd/dmz050.
PMID: 32141501
Papavassiliou P,
Charalsawadi C,
Rafferty K,
Jackson-Cook C
Am J Med Genet A
2015 Jan;167A(1):26-39.
Epub 2014 Nov 20
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Therapy
Sherratt SCR,
Libby P,
Budoff MJ,
Bhatt DL,
Mason RP
Curr Atheroscler Rep
2023 Jan;25(1):1-17.
Epub 2022 Dec 29
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PMID: 36580204Free PMC Article
Treff NR,
Marin D
Fertil Steril
2021 Nov;116(5):1205-1211.
Epub 2021 Jul 23
doi: 10.1016/j.fertnstert.2021.06.027.
PMID: 34304887
Samanta D
Pediatr Neurol
2020 Apr;105:3-9.
Epub 2019 Nov 30
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PMID: 32057594
Skuse D,
Printzlau F,
Wolstencroft J
Handb Clin Neurol
2018;147:355-376.
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PMID: 29325624
Coppedè F
Arch Toxicol
2016 Dec;90(12):2917-2929.
Epub 2016 Sep 7
doi: 10.1007/s00204-016-1843-3.
PMID: 27600794
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
Capalbo A,
Poli M,
Rienzi L,
Girardi L,
Patassini C,
Fabiani M,
Cimadomo D,
Benini F,
Farcomeni A,
Cuzzi J,
Rubio C,
Albani E,
Sacchi L,
Vaiarelli A,
Figliuzzi M,
Findikli N,
Coban O,
Boynukalin FK,
Vogel I,
Hoffmann E,
Livi C,
Levi-Setti PE,
Ubaldi FM,
Simón C
Am J Hum Genet
2021 Dec 2;108(12):2238-2247.
Epub 2021 Nov 18
doi: 10.1016/j.ajhg.2021.11.002.
PMID: 34798051Free PMC Article
Treff NR,
Marin D
Fertil Steril
2021 Nov;116(5):1205-1211.
Epub 2021 Jul 23
doi: 10.1016/j.fertnstert.2021.06.027.
PMID: 34304887
Zhang H,
Gao Y,
Jiang F,
Fu M,
Yuan Y,
Guo Y,
Zhu Z,
Lin M,
Liu Q,
Tian Z,
Zhang H,
Chen F,
Lau TK,
Zhao L,
Yi X,
Yin Y,
Wang W
Ultrasound Obstet Gynecol
2015 May;45(5):530-8.
Epub 2015 Apr 8
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PMID: 25598039
Kasper CK,
Buzin CH
Haemophilia
2009 Nov;15(6):1181-6.
Epub 2009 Mar 11
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PMID: 19473426
Clinical prediction guides
Treff NR,
Marin D
Fertil Steril
2021 Nov;116(5):1205-1211.
Epub 2021 Jul 23
doi: 10.1016/j.fertnstert.2021.06.027.
PMID: 34304887
Practice Committee and Genetic Counseling Professional Group (GCPG) of the American Society for Reproductive Medicine. Electronic address: asrm@asrm.org
Fertil Steril
2020 Aug;114(2):246-254.
doi: 10.1016/j.fertnstert.2020.05.014.
PMID: 32741460
Popovic M,
Dhaenens L,
Boel A,
Menten B,
Heindryckx B
Hum Reprod Update
2020 Apr 15;26(3):313-334.
doi: 10.1093/humupd/dmz050.
PMID: 32141501
Hartwig TS,
Ambye L,
Sørensen S,
Jørgensen FS
Prenat Diagn
2017 Jun;37(6):527-539.
Epub 2017 Jun 1
doi: 10.1002/pd.5049.
PMID: 28382695
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