Wang Y,
Wu Q,
Cao W,
Huang L,
Liu W,
Li C,
Li N
Mol Vis
2022;28:352-358.
Epub 2022 Oct 6
PMID: 36338666Free PMC Article
Bunyan DJ,
Thomas NS
Eur J Med Genet
2019 Jul;62(7):103668.
Epub 2019 May 8
doi: 10.1016/j.ejmg.2019.05.007.
PMID: 31077882
Kaur I,
Hussain A,
Naik MN,
Murthy R,
Honavar SG
Br J Ophthalmol
2011 Jun;95(6):881-6.
Epub 2011 Feb 16
doi: 10.1136/bjo.2009.177972.
PMID: 21325395
Gijsbers AC,
D'haene B,
Hilhorst-Hofstee Y,
Mannens M,
Albrecht B,
Seidel J,
Witt DR,
Maisenbacher MK,
Loeys B,
van Essen T,
Bakker E,
Hennekam R,
Breuning MH,
De Baere E,
Ruivenkamp CA
Hum Genet
2008 Dec;124(5):489-98.
Epub 2008 Oct 25
doi: 10.1007/s00439-008-0574-9.
PMID: 18953567
Beysen D,
Vandesompele J,
Messiaen L,
De Paepe A,
De Baere E
Hum Mutat
2004 Sep;24(3):189-93.
doi: 10.1002/humu.20079.
PMID: 15300845
Wang Y,
Wu Q,
Cao W,
Huang L,
Liu W,
Li C,
Li N
Mol Vis
2022;28:352-358.
Epub 2022 Oct 6
PMID: 36338666Free PMC Article
Bunyan DJ,
Thomas NS
Eur J Med Genet
2019 Jul;62(7):103668.
Epub 2019 May 8
doi: 10.1016/j.ejmg.2019.05.007.
PMID: 31077882
Yang L,
Li T,
Xing Y
Mol Med Rep
2017 Oct;16(4):5529-5532.
Epub 2017 Aug 10
doi: 10.3892/mmr.2017.7226.
PMID: 28849110
Zhou L,
Wang T,
Wang J
Ophthalmic Plast Reconstr Surg
2017 May/Jun;33(3S Suppl 1):S82-S84.
doi: 10.1097/IOP.0000000000000708.
PMID: 27115209
De Baere E,
Dixon MJ,
Small KW,
Jabs EW,
Leroy BP,
Devriendt K,
Gillerot Y,
Mortier G,
Meire F,
Van Maldergem L,
Courtens W,
Hjalgrim H,
Huang S,
Liebaers I,
Van Regemorter N,
Touraine P,
Praphanphoj V,
Verloes A,
Udar N,
Yellore V,
Chalukya M,
Yelchits S,
De Paepe A,
Kuttenn F,
Fellous M,
Veitia R,
Messiaen L
Hum Mol Genet
2001 Jul 15;10(15):1591-600.
doi: 10.1093/hmg/10.15.1591.
PMID: 11468277
Li F,
Chai P,
Fan J,
Wang X,
Lu W,
Li J,
Ge S,
Jia R,
Zhang H,
Fan X
Cell Physiol Biochem
2018;45(1):203-211.
Epub 2018 Jan 15
doi: 10.1159/000486358.
PMID: 29339661
Nuovo S,
Passeri M,
Di Benedetto E,
Calanchini M,
Meldolesi I,
Di Giacomo MC,
Petruzzi D,
Piemontese MR,
Zelante L,
Sangiuolo F,
Novelli G,
Fabbri A,
Brancati F
J Endocrinol Invest
2016 Feb;39(2):227-33.
Epub 2015 Jun 23
doi: 10.1007/s40618-015-0334-3.
PMID: 26100530
Fokstuen S,
Antonarakis SE,
Blouin JL
Am J Med Genet A
2003 Mar 1;117A(2):143-6.
doi: 10.1002/ajmg.a.10024.
PMID: 12567411
Bell R,
Murday VA,
Patton MA,
Jeffery S
Genet Test
2001 Winter;5(4):335-8.
doi: 10.1089/109065701753617499.
PMID: 11960581
De Baere E,
Dixon MJ,
Small KW,
Jabs EW,
Leroy BP,
Devriendt K,
Gillerot Y,
Mortier G,
Meire F,
Van Maldergem L,
Courtens W,
Hjalgrim H,
Huang S,
Liebaers I,
Van Regemorter N,
Touraine P,
Praphanphoj V,
Verloes A,
Udar N,
Yellore V,
Chalukya M,
Yelchits S,
De Paepe A,
Kuttenn F,
Fellous M,
Veitia R,
Messiaen L
Hum Mol Genet
2001 Jul 15;10(15):1591-600.
doi: 10.1093/hmg/10.15.1591.
PMID: 11468277
Hu J,
Ke H,
Luo W,
Yang Y,
Liu H,
Li G,
Qin Y,
Ma J,
Zhao S
J Assist Reprod Genet
2020 Jan;37(1):223-229.
Epub 2019 Dec 10
doi: 10.1007/s10815-019-01651-2.
PMID: 31823134Free PMC Article
Li F,
Chai P,
Fan J,
Wang X,
Lu W,
Li J,
Ge S,
Jia R,
Zhang H,
Fan X
Cell Physiol Biochem
2018;45(1):203-211.
Epub 2018 Jan 15
doi: 10.1159/000486358.
PMID: 29339661
Chai P,
Li F,
Fan J,
Jia R,
Zhang H,
Fan X
Int J Biol Sci
2017;13(8):1019-1028.
Epub 2017 Jul 18
doi: 10.7150/ijbs.19532.
PMID: 28924383Free PMC Article
Nuovo S,
Passeri M,
Di Benedetto E,
Calanchini M,
Meldolesi I,
Di Giacomo MC,
Petruzzi D,
Piemontese MR,
Zelante L,
Sangiuolo F,
Novelli G,
Fabbri A,
Brancati F
J Endocrinol Invest
2016 Feb;39(2):227-33.
Epub 2015 Jun 23
doi: 10.1007/s40618-015-0334-3.
PMID: 26100530
Bell R,
Murday VA,
Patton MA,
Jeffery S
Genet Test
2001 Winter;5(4):335-8.
doi: 10.1089/109065701753617499.
PMID: 11960581