Etiology
Martin K,
Dar P,
MacPherson C,
Egbert M,
Demko Z,
Parmar S,
Hashimoto K,
Haeri S,
Malone F,
Wapner RJ,
Roman AS,
Khalil A,
Faro R,
Madankumar R,
Strong N,
Silver RM,
Vohra N,
Hyett J,
Rabinowitz M,
Kao C,
Hakonarson H,
Jacobsson B,
Norton ME
Genet Med
2023 Aug;25(8):100879.
Epub 2023 May 5
doi: 10.1016/j.gim.2023.100879.
PMID: 37154148
Mardy AH,
Norton ME
Prenat Diagn
2021 Sep;41(10):1249-1254.
Epub 2021 Aug 25
doi: 10.1002/pd.6021.
PMID: 34386984
Mikwar M,
MacFarlane AJ,
Marchetti F
Mutat Res Rev Mutat Res
2020 Jul-Sep;785:108320.
Epub 2020 Jul 4
doi: 10.1016/j.mrrev.2020.108320.
PMID: 32800274
Qin Y,
Jiao X,
Simpson JL,
Chen ZJ
Hum Reprod Update
2015 Nov-Dec;21(6):787-808.
Epub 2015 Aug 4
doi: 10.1093/humupd/dmv036.
PMID: 26243799Free PMC Article
Kesler SR
Child Adolesc Psychiatr Clin N Am
2007 Jul;16(3):709-22.
doi: 10.1016/j.chc.2007.02.004.
PMID: 17562588Free PMC Article
Diagnosis
Mardy AH,
Norton ME
Prenat Diagn
2021 Sep;41(10):1249-1254.
Epub 2021 Aug 25
doi: 10.1002/pd.6021.
PMID: 34386984
Ishizuka B
Front Endocrinol (Lausanne)
2021;12:626924.
Epub 2021 Feb 25
doi: 10.3389/fendo.2021.626924.
PMID: 33716979Free PMC Article
Rudd MK,
Schleede JB,
Williams SR,
Lee K,
Laffin J,
Pasion R,
Papenhausen PR
Prenat Diagn
2018 Nov;38(12):920-923.
Epub 2018 Sep 24
doi: 10.1002/pd.5349.
PMID: 30156302
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
Kesler SR
Child Adolesc Psychiatr Clin N Am
2007 Jul;16(3):709-22.
doi: 10.1016/j.chc.2007.02.004.
PMID: 17562588Free PMC Article
Therapy
Bussolaro S,
Raymond YC,
Acreman ML,
Guido M,
Da Silva Costa F,
Rolnik DL,
Fantasia I
Am J Obstet Gynecol MFM
2023 Mar;5(3):100844.
Epub 2022 Dec 24
doi: 10.1016/j.ajogmf.2022.100844.
PMID: 36572107
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
Bernardini L,
Giuffrida MG,
Francalanci P,
Capalbo A,
Novelli A,
Callea F,
Dallapiccola B
Am J Med Genet A
2010 Aug;152A(8):1967-72.
doi: 10.1002/ajmg.a.33538.
PMID: 20635409
Bondy CA
Congenit Heart Dis
2008 Jan-Feb;3(1):2-15.
doi: 10.1111/j.1747-0803.2007.00163.x.
PMID: 18373744
Kesler SR
Child Adolesc Psychiatr Clin N Am
2007 Jul;16(3):709-22.
doi: 10.1016/j.chc.2007.02.004.
PMID: 17562588Free PMC Article
Prognosis
Martin K,
Dar P,
MacPherson C,
Egbert M,
Demko Z,
Parmar S,
Hashimoto K,
Haeri S,
Malone F,
Wapner RJ,
Roman AS,
Khalil A,
Faro R,
Madankumar R,
Strong N,
Silver RM,
Vohra N,
Hyett J,
Rabinowitz M,
Kao C,
Hakonarson H,
Jacobsson B,
Norton ME
Genet Med
2023 Aug;25(8):100879.
Epub 2023 May 5
doi: 10.1016/j.gim.2023.100879.
PMID: 37154148
Mardy AH,
Norton ME
Prenat Diagn
2021 Sep;41(10):1249-1254.
Epub 2021 Aug 25
doi: 10.1002/pd.6021.
PMID: 34386984
Ishizuka B
Front Endocrinol (Lausanne)
2021;12:626924.
Epub 2021 Feb 25
doi: 10.3389/fendo.2021.626924.
PMID: 33716979Free PMC Article
Rudd MK,
Schleede JB,
Williams SR,
Lee K,
Laffin J,
Pasion R,
Papenhausen PR
Prenat Diagn
2018 Nov;38(12):920-923.
Epub 2018 Sep 24
doi: 10.1002/pd.5349.
PMID: 30156302
Qin Y,
Jiao X,
Simpson JL,
Chen ZJ
Hum Reprod Update
2015 Nov-Dec;21(6):787-808.
Epub 2015 Aug 4
doi: 10.1093/humupd/dmv036.
PMID: 26243799Free PMC Article
Clinical prediction guides
Martin K,
Dar P,
MacPherson C,
Egbert M,
Demko Z,
Parmar S,
Hashimoto K,
Haeri S,
Malone F,
Wapner RJ,
Roman AS,
Khalil A,
Faro R,
Madankumar R,
Strong N,
Silver RM,
Vohra N,
Hyett J,
Rabinowitz M,
Kao C,
Hakonarson H,
Jacobsson B,
Norton ME
Genet Med
2023 Aug;25(8):100879.
Epub 2023 May 5
doi: 10.1016/j.gim.2023.100879.
PMID: 37154148
Dowlut-McElroy T,
Davis S,
Howell S,
Gutmark-Little I,
Bamba V,
Prakash S,
Patel S,
Fadoju D,
Vijayakanthi N,
Haag M,
Hennerich D,
Dugoff L,
Shankar RK
Am J Obstet Gynecol
2022 Dec;227(6):862-870.
Epub 2022 Jul 13
doi: 10.1016/j.ajog.2022.07.004.
PMID: 35841934Free 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
Rudd MK,
Schleede JB,
Williams SR,
Lee K,
Laffin J,
Pasion R,
Papenhausen PR
Prenat Diagn
2018 Nov;38(12):920-923.
Epub 2018 Sep 24
doi: 10.1002/pd.5349.
PMID: 30156302
Qin Y,
Jiao X,
Simpson JL,
Chen ZJ
Hum Reprod Update
2015 Nov-Dec;21(6):787-808.
Epub 2015 Aug 4
doi: 10.1093/humupd/dmv036.
PMID: 26243799Free PMC Article