Etiology
Jauniaux E,
Jurkovic D,
Hussein AM,
Burton GJ
Am J Obstet Gynecol
2022 Sep;227(3):384-391.
Epub 2022 Mar 3
doi: 10.1016/j.ajog.2022.02.038.
PMID: 35248577
Kundu N,
Kothari R,
Shah N,
Sandhu S,
Tripathy DM,
Galadari H,
Gold MH,
Goldman MP,
Kassir M,
Schepler H,
Grabbe S,
Goldust M
J Cosmet Dermatol
2022 May;21(5):1849-1856.
Epub 2022 Feb 28
doi: 10.1111/jocd.14858.
PMID: 35176198
Zrelski MM,
Kustermann M,
Winter L
Cells
2021 Sep 19;10(9)
doi: 10.3390/cells10092480.
PMID: 34572129Free PMC Article
Cavalli M,
Aiolfi A,
Bruni PG,
Manfredini L,
Lombardo F,
Bonfanti MT,
Bona D,
Campanelli G
Hernia
2021 Aug;25(4):883-890.
Epub 2021 Aug 6
doi: 10.1007/s10029-021-02468-8.
PMID: 34363190Free PMC Article
Oates EC,
Jones KJ,
Donkervoort S,
Charlton A,
Brammah S,
Smith JE 3rd,
Ware JS,
Yau KS,
Swanson LC,
Whiffin N,
Peduto AJ,
Bournazos A,
Waddell LB,
Farrar MA,
Sampaio HA,
Teoh HL,
Lamont PJ,
Mowat D,
Fitzsimons RB,
Corbett AJ,
Ryan MM,
O'Grady GL,
Sandaradura SA,
Ghaoui R,
Joshi H,
Marshall JL,
Nolan MA,
Kaur S,
Punetha J,
Töpf A,
Harris E,
Bakshi M,
Genetti CA,
Marttila M,
Werlauff U,
Streichenberger N,
Pestronk A,
Mazanti I,
Pinner JR,
Vuillerot C,
Grosmann C,
Camacho A,
Mohassel P,
Leach ME,
Foley AR,
Bharucha-Goebel D,
Collins J,
Connolly AM,
Gilbreath HR,
Iannaccone ST,
Castro D,
Cummings BB,
Webster RI,
Lazaro L,
Vissing J,
Coppens S,
Deconinck N,
Luk HM,
Thomas NH,
Foulds NC,
Illingworth MA,
Ellard S,
McLean CA,
Phadke R,
Ravenscroft G,
Witting N,
Hackman P,
Richard I,
Cooper ST,
Kamsteeg EJ,
Hoffman EP,
Bushby K,
Straub V,
Udd B,
Ferreiro A,
North KN,
Clarke NF,
Lek M,
Beggs AH,
Bönnemann CG,
MacArthur DG,
Granzier H,
Davis MR,
Laing NG
Ann Neurol
2018 Jun;83(6):1105-1124.
doi: 10.1002/ana.25241.
PMID: 29691892Free PMC Article
Diagnosis
Gavril EC,
Nucă I,
Pânzaru MC,
Ivanov AV,
Mihai CT,
Antoci LM,
Ciobanu CG,
Rusu C,
Popescu R
Genes (Basel)
2023 Feb 11;14(2)
doi: 10.3390/genes14020465.
PMID: 36833393Free PMC Article
Jauniaux E,
Jurkovic D,
Hussein AM,
Burton GJ
Am J Obstet Gynecol
2022 Sep;227(3):384-391.
Epub 2022 Mar 3
doi: 10.1016/j.ajog.2022.02.038.
PMID: 35248577
Kaczorowska N,
Kaczorowski K,
Laskowska J,
Mikulewicz M
Adv Clin Exp Med
2019 Nov;28(11):1587-1592.
doi: 10.17219/acem/112785.
PMID: 31778604
Oates EC,
Jones KJ,
Donkervoort S,
Charlton A,
Brammah S,
Smith JE 3rd,
Ware JS,
Yau KS,
Swanson LC,
Whiffin N,
Peduto AJ,
Bournazos A,
Waddell LB,
Farrar MA,
Sampaio HA,
Teoh HL,
Lamont PJ,
Mowat D,
Fitzsimons RB,
Corbett AJ,
Ryan MM,
O'Grady GL,
Sandaradura SA,
Ghaoui R,
Joshi H,
Marshall JL,
Nolan MA,
Kaur S,
Punetha J,
Töpf A,
Harris E,
Bakshi M,
Genetti CA,
Marttila M,
Werlauff U,
Streichenberger N,
Pestronk A,
Mazanti I,
Pinner JR,
Vuillerot C,
Grosmann C,
Camacho A,
Mohassel P,
Leach ME,
Foley AR,
Bharucha-Goebel D,
Collins J,
Connolly AM,
Gilbreath HR,
Iannaccone ST,
Castro D,
Cummings BB,
Webster RI,
Lazaro L,
Vissing J,
Coppens S,
Deconinck N,
Luk HM,
Thomas NH,
Foulds NC,
Illingworth MA,
Ellard S,
McLean CA,
Phadke R,
Ravenscroft G,
Witting N,
Hackman P,
Richard I,
Cooper ST,
Kamsteeg EJ,
Hoffman EP,
Bushby K,
Straub V,
Udd B,
Ferreiro A,
North KN,
Clarke NF,
Lek M,
Beggs AH,
Bönnemann CG,
MacArthur DG,
Granzier H,
Davis MR,
Laing NG
Ann Neurol
2018 Jun;83(6):1105-1124.
doi: 10.1002/ana.25241.
PMID: 29691892Free PMC Article
Pant S,
Kaur G,
De JK
Kathmandu Univ Med J (KUMJ)
2010 Jan-Mar;8(29):83-6.
doi: 10.3126/kumj.v8i1.3227.
PMID: 21209513
Therapy
Kundu N,
Kothari R,
Shah N,
Sandhu S,
Tripathy DM,
Galadari H,
Gold MH,
Goldman MP,
Kassir M,
Schepler H,
Grabbe S,
Goldust M
J Cosmet Dermatol
2022 May;21(5):1849-1856.
Epub 2022 Feb 28
doi: 10.1111/jocd.14858.
PMID: 35176198
Guo S,
Liu P,
Feng B,
Xu Y,
Wang Y
Phys Sportsmed
2022 Oct;50(5):369-377.
Epub 2021 Jul 19
doi: 10.1080/00913847.2021.1949253.
PMID: 34176444
Reychler G,
De Backer MM,
Piraux E,
Poncin W,
Caty G
Am J Med Genet A
2021 Oct;185(10):2986-2994.
Epub 2021 Jun 19
doi: 10.1002/ajmg.a.62393.
PMID: 34145717
Parry-Williams G,
Sharma S
Nat Rev Cardiol
2020 Jul;17(7):402-412.
Epub 2020 Mar 9
doi: 10.1038/s41569-020-0354-3.
PMID: 32152528
Kuhn M,
Türp JC
Swiss Dent J
2018 Feb 12;128(2):118-124.
PMID: 29533049
Prognosis
Camilleri M,
Sanders KM
Gastroenterology
2022 Jan;162(1):68-87.e1.
Epub 2021 Oct 27
doi: 10.1053/j.gastro.2021.10.028.
PMID: 34717924Free PMC Article
Adams AD,
Stover S,
Rac MW
Prenat Diagn
2021 Mar;41(4):486-496.
Epub 2021 Feb 4
doi: 10.1002/pd.5886.
PMID: 33540475
Kaczorowska N,
Kaczorowski K,
Laskowska J,
Mikulewicz M
Adv Clin Exp Med
2019 Nov;28(11):1587-1592.
doi: 10.17219/acem/112785.
PMID: 31778604
Rubin DI
Handb Clin Neurol
2019;160:281-301.
doi: 10.1016/B978-0-444-64032-1.00018-7.
PMID: 31277854
Oates EC,
Jones KJ,
Donkervoort S,
Charlton A,
Brammah S,
Smith JE 3rd,
Ware JS,
Yau KS,
Swanson LC,
Whiffin N,
Peduto AJ,
Bournazos A,
Waddell LB,
Farrar MA,
Sampaio HA,
Teoh HL,
Lamont PJ,
Mowat D,
Fitzsimons RB,
Corbett AJ,
Ryan MM,
O'Grady GL,
Sandaradura SA,
Ghaoui R,
Joshi H,
Marshall JL,
Nolan MA,
Kaur S,
Punetha J,
Töpf A,
Harris E,
Bakshi M,
Genetti CA,
Marttila M,
Werlauff U,
Streichenberger N,
Pestronk A,
Mazanti I,
Pinner JR,
Vuillerot C,
Grosmann C,
Camacho A,
Mohassel P,
Leach ME,
Foley AR,
Bharucha-Goebel D,
Collins J,
Connolly AM,
Gilbreath HR,
Iannaccone ST,
Castro D,
Cummings BB,
Webster RI,
Lazaro L,
Vissing J,
Coppens S,
Deconinck N,
Luk HM,
Thomas NH,
Foulds NC,
Illingworth MA,
Ellard S,
McLean CA,
Phadke R,
Ravenscroft G,
Witting N,
Hackman P,
Richard I,
Cooper ST,
Kamsteeg EJ,
Hoffman EP,
Bushby K,
Straub V,
Udd B,
Ferreiro A,
North KN,
Clarke NF,
Lek M,
Beggs AH,
Bönnemann CG,
MacArthur DG,
Granzier H,
Davis MR,
Laing NG
Ann Neurol
2018 Jun;83(6):1105-1124.
doi: 10.1002/ana.25241.
PMID: 29691892Free PMC Article
Clinical prediction guides
Gavril EC,
Nucă I,
Pânzaru MC,
Ivanov AV,
Mihai CT,
Antoci LM,
Ciobanu CG,
Rusu C,
Popescu R
Genes (Basel)
2023 Feb 11;14(2)
doi: 10.3390/genes14020465.
PMID: 36833393Free PMC Article
Camilleri M,
Sanders KM
Gastroenterology
2022 Jan;162(1):68-87.e1.
Epub 2021 Oct 27
doi: 10.1053/j.gastro.2021.10.028.
PMID: 34717924Free PMC Article
Wright A,
Hall A,
Daly T,
Fontelonga T,
Potter S,
Schafer C,
Lindsley A,
Hung C,
Bodamer O,
Gussoni E
FASEB J
2021 Nov;35(11):e21955.
doi: 10.1096/fj.202100823R.
PMID: 34613626Free PMC Article
Reychler G,
De Backer MM,
Piraux E,
Poncin W,
Caty G
Am J Med Genet A
2021 Oct;185(10):2986-2994.
Epub 2021 Jun 19
doi: 10.1002/ajmg.a.62393.
PMID: 34145717
Oates EC,
Jones KJ,
Donkervoort S,
Charlton A,
Brammah S,
Smith JE 3rd,
Ware JS,
Yau KS,
Swanson LC,
Whiffin N,
Peduto AJ,
Bournazos A,
Waddell LB,
Farrar MA,
Sampaio HA,
Teoh HL,
Lamont PJ,
Mowat D,
Fitzsimons RB,
Corbett AJ,
Ryan MM,
O'Grady GL,
Sandaradura SA,
Ghaoui R,
Joshi H,
Marshall JL,
Nolan MA,
Kaur S,
Punetha J,
Töpf A,
Harris E,
Bakshi M,
Genetti CA,
Marttila M,
Werlauff U,
Streichenberger N,
Pestronk A,
Mazanti I,
Pinner JR,
Vuillerot C,
Grosmann C,
Camacho A,
Mohassel P,
Leach ME,
Foley AR,
Bharucha-Goebel D,
Collins J,
Connolly AM,
Gilbreath HR,
Iannaccone ST,
Castro D,
Cummings BB,
Webster RI,
Lazaro L,
Vissing J,
Coppens S,
Deconinck N,
Luk HM,
Thomas NH,
Foulds NC,
Illingworth MA,
Ellard S,
McLean CA,
Phadke R,
Ravenscroft G,
Witting N,
Hackman P,
Richard I,
Cooper ST,
Kamsteeg EJ,
Hoffman EP,
Bushby K,
Straub V,
Udd B,
Ferreiro A,
North KN,
Clarke NF,
Lek M,
Beggs AH,
Bönnemann CG,
MacArthur DG,
Granzier H,
Davis MR,
Laing NG
Ann Neurol
2018 Jun;83(6):1105-1124.
doi: 10.1002/ana.25241.
PMID: 29691892Free PMC Article