Etiology
Herlin MK
Front Endocrinol (Lausanne)
2024;15:1368990.
Epub 2024 Apr 18
doi: 10.3389/fendo.2024.1368990.
PMID: 38699388Free PMC Article
Ma C,
Chen N,
Jolly A,
Zhao S,
Coban-Akdemir Z,
Tian W,
Kang J,
Ye Y,
Wang Y,
Koch A,
Zhang Y,
Qin C,
Bonilla X,
Borel C,
Rall K,
Chen Z,
Jhangiani S,
Niu Y,
Li X,
Qiu G,
Zhang S,
Luo G,
Wu Z,
Bacopoulou F,
Deligeoroglou E,
Zhang TJ,
Rosenberg C,
Gibbs RA,
Dietrich JE,
Dimas AS,
Liu P,
Antonarakis SE,
Brucker SY,
Posey JE,
Lupski JR,
Wu N,
Zhu L;
Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) Study Group
Genet Med
2022 Nov;24(11):2262-2273.
Epub 2022 Sep 16
doi: 10.1016/j.gim.2022.08.012.
PMID: 36112137
Chen N,
Zhao S,
Jolly A,
Wang L,
Pan H,
Yuan J,
Chen S,
Koch A,
Ma C,
Tian W,
Jia Z,
Kang J,
Zhao L,
Qin C,
Fan X,
Rall K,
Coban-Akdemir Z,
Chen Z,
Jhangiani S,
Liang Z,
Niu Y,
Li X,
Yan Z,
Wu Y,
Dong S,
Song C,
Qiu G,
Zhang S,
Liu P,
Posey JE,
Zhang F,
Luo G,
Wu Z;
Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study group,
Su J,
Zhang J,
Chen EY,
Rouskas K,
Glentis S,
Bacopoulou F,
Deligeoroglou E,
Chrousos G,
Lyonnet S,
Polak M,
Rosenberg C,
Dingeldein I,
Bonilla X,
Borel C,
Gibbs RA,
Dietrich JE,
Dimas AS,
Antonarakis SE,
Brucker SY,
Lupski JR,
Wu N,
Zhu L
Am J Hum Genet
2021 Feb 4;108(2):337-345.
doi: 10.1016/j.ajhg.2020.12.014.
PMID: 33434492Free PMC Article
Ludwin A,
Ludwin I
Hum Reprod
2015 Mar;30(3):569-80.
Epub 2014 Dec 22
doi: 10.1093/humrep/deu344.
PMID: 25534461Free PMC Article
Strübbe EH,
Lemmens JA,
Thijn CJ,
Willemsen WN,
van Toor BS
Skeletal Radiol
1992;21(7):459-62.
doi: 10.1007/BF00190992.
PMID: 1294137
Diagnosis
Herlin MK,
Petersen MB,
Brännström M
Orphanet J Rare Dis
2020 Aug 20;15(1):214.
doi: 10.1186/s13023-020-01491-9.
PMID: 32819397Free PMC Article
Liszewska-Kapłon M,
Strózik M,
Kotarski Ł,
Bagłaj M,
Hirnle L
Adv Clin Exp Med
2020 Apr;29(4):505-511.
doi: 10.17219/acem/118850.
PMID: 32348039
Choussein S,
Nasioudis D,
Schizas D,
Economopoulos KP
Arch Gynecol Obstet
2017 Jun;295(6):1369-1381.
Epub 2017 Apr 22
doi: 10.1007/s00404-017-4372-2.
PMID: 28434104
Behr SC,
Courtier JL,
Qayyum A
Radiographics
2012 Oct;32(6):E233-50.
doi: 10.1148/rg.326125515.
PMID: 23065173
Morcel K,
Camborieux L;
Programme de Recherches sur les Aplasies Müllériennes,
Guerrier D
Orphanet J Rare Dis
2007 Mar 14;2:13.
doi: 10.1186/1750-1172-2-13.
PMID: 17359527Free PMC Article
Therapy
Sethi P,
Mohanty GS,
Kumari S
BMJ Case Rep
2021 Feb 23;14(2)
doi: 10.1136/bcr-2020-238427.
PMID: 33622745Free PMC Article
Herlin MK,
Petersen MB,
Brännström M
Orphanet J Rare Dis
2020 Aug 20;15(1):214.
doi: 10.1186/s13023-020-01491-9.
PMID: 32819397Free PMC Article
Adamiak-Godlewska A,
Skorupska K,
Rechberger T,
Romanek-Piva K,
Miotła P
Biomed Res Int
2019;2019:2360185.
Epub 2019 Feb 25
doi: 10.1155/2019/2360185.
PMID: 30931323Free PMC Article
Roy S
Am J Obstet Gynecol
1991 Oct;165(4 Pt 2):1240-4.
doi: 10.1016/s0002-9378(12)90735-8.
PMID: 1951581
Ulfelder H,
Robboy SJ
Am J Obstet Gynecol
1976 Dec 1;126(7):769-76.
doi: 10.1016/0002-9378(76)90666-9.
PMID: 1033667
Prognosis
Fouad R,
Zayed M
Arch Gynecol Obstet
2023 Apr;307(4):1001-1006.
Epub 2022 Nov 28
doi: 10.1007/s00404-022-06858-w.
PMID: 36443606Free PMC Article
Fleming NA,
Hopkins L,
de Nanassy J,
Senterman M,
Black AY
J Pediatr Adolesc Gynecol
2009 Aug;22(4):e45-51.
Epub 2009 Jun 2
doi: 10.1016/j.jpag.2008.06.001.
PMID: 19493521
Ragan DC,
Casale AJ,
Rink RC,
Cain MP,
Weaver DD
J Urol
1999 Feb;161(2):622-5.
PMID: 9915472
Roy S
Am J Obstet Gynecol
1991 Oct;165(4 Pt 2):1240-4.
doi: 10.1016/s0002-9378(12)90735-8.
PMID: 1951581
Ulfelder H,
Robboy SJ
Am J Obstet Gynecol
1976 Dec 1;126(7):769-76.
doi: 10.1016/0002-9378(76)90666-9.
PMID: 1033667
Clinical prediction guides
Ma C,
Chen N,
Jolly A,
Zhao S,
Coban-Akdemir Z,
Tian W,
Kang J,
Ye Y,
Wang Y,
Koch A,
Zhang Y,
Qin C,
Bonilla X,
Borel C,
Rall K,
Chen Z,
Jhangiani S,
Niu Y,
Li X,
Qiu G,
Zhang S,
Luo G,
Wu Z,
Bacopoulou F,
Deligeoroglou E,
Zhang TJ,
Rosenberg C,
Gibbs RA,
Dietrich JE,
Dimas AS,
Liu P,
Antonarakis SE,
Brucker SY,
Posey JE,
Lupski JR,
Wu N,
Zhu L;
Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) Study Group
Genet Med
2022 Nov;24(11):2262-2273.
Epub 2022 Sep 16
doi: 10.1016/j.gim.2022.08.012.
PMID: 36112137
Sysak R,
Bluska P,
Stencl P,
Klein M,
Varga I
Bratisl Lek Listy
2021;122(12):839-845.
doi: 10.4149/BLL_2021_136.
PMID: 34904845
Chen N,
Zhao S,
Jolly A,
Wang L,
Pan H,
Yuan J,
Chen S,
Koch A,
Ma C,
Tian W,
Jia Z,
Kang J,
Zhao L,
Qin C,
Fan X,
Rall K,
Coban-Akdemir Z,
Chen Z,
Jhangiani S,
Liang Z,
Niu Y,
Li X,
Yan Z,
Wu Y,
Dong S,
Song C,
Qiu G,
Zhang S,
Liu P,
Posey JE,
Zhang F,
Luo G,
Wu Z;
Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study group,
Su J,
Zhang J,
Chen EY,
Rouskas K,
Glentis S,
Bacopoulou F,
Deligeoroglou E,
Chrousos G,
Lyonnet S,
Polak M,
Rosenberg C,
Dingeldein I,
Bonilla X,
Borel C,
Gibbs RA,
Dietrich JE,
Dimas AS,
Antonarakis SE,
Brucker SY,
Lupski JR,
Wu N,
Zhu L
Am J Hum Genet
2021 Feb 4;108(2):337-345.
doi: 10.1016/j.ajhg.2020.12.014.
PMID: 33434492Free PMC Article
Eggermann T,
Ledig S,
Begemann M,
Elbracht M,
Kurth I,
Wieacker P
Mol Genet Genomic Med
2018 Nov;6(6):1225-1228.
Epub 2018 Aug 11
doi: 10.1002/mgg3.426.
PMID: 30099855Free PMC Article
Ludwin A,
Ludwin I
Hum Reprod
2015 Mar;30(3):569-80.
Epub 2014 Dec 22
doi: 10.1093/humrep/deu344.
PMID: 25534461Free PMC Article