Etiology
Khetarpal P,
Das S,
Panigrahi I,
Munshi A
Mol Genet Genomics
2016 Feb;291(1):1-15.
Epub 2015 Sep 1
doi: 10.1007/s00438-015-1110-y.
PMID: 26323792
Boisvert RA,
Howlett NG
Cell Cycle
2014;13(19):2999-3015.
doi: 10.4161/15384101.2014.956475.
PMID: 25486561Free PMC Article
Klingseisen A,
Jackson AP
Genes Dev
2011 Oct 1;25(19):2011-24.
doi: 10.1101/gad.169037.
PMID: 21979914Free PMC Article
Faivre L,
Le Merrer M,
Lyonnet S,
Plauchu H,
Dagoneau N,
Campos-Xavier AB,
Attia-Sobol J,
Verloes A,
Munnich A,
Cormier-Daire V
Am J Med Genet
2002 Nov 1;112(4):379-83.
doi: 10.1002/ajmg.10677.
PMID: 12376940
Courtens W,
Speleman F,
Messiaen L,
Bormans J,
Van Roy N,
Vamos E
Am J Med Genet
1997 Sep 5;71(4):479-85.
PMID: 9286460
Diagnosis
Donmez YN,
Giray D,
Epcacan S,
Goktas E,
Aypar E
Cardiol Young
2022 Mar;32(3):487-490.
Epub 2021 Aug 13
doi: 10.1017/S1047951121003097.
PMID: 34387179
Khojah O,
Alamoudi S,
Aldawsari N,
Babgi M,
Lary A
Childs Nerv Syst
2021 Dec;37(12):3847-3860.
Epub 2021 Aug 3
doi: 10.1007/s00381-021-05284-8.
PMID: 34345934Free PMC Article
Akkurt MO,
Pakay K,
Akkurt I,
Temur M,
Korkmazer E
J Matern Fetal Neonatal Med
2019 Jun;32(11):1905-1908.
Epub 2017 Dec 28
doi: 10.1080/14767058.2017.1419467.
PMID: 29284336
Khetarpal P,
Das S,
Panigrahi I,
Munshi A
Mol Genet Genomics
2016 Feb;291(1):1-15.
Epub 2015 Sep 1
doi: 10.1007/s00438-015-1110-y.
PMID: 26323792
Qvist P,
Huertas P,
Jimeno S,
Nyegaard M,
Hassan MJ,
Jackson SP,
Børglum AD
PLoS Genet
2011 Oct;7(10):e1002310.
Epub 2011 Oct 6
doi: 10.1371/journal.pgen.1002310.
PMID: 21998596Free PMC Article
Therapy
Scalet D,
Balestra D,
Rohban S,
Bovolenta M,
Perrone D,
Bernardi F,
Campaner S,
Pinotti M
Biochim Biophys Acta Mol Basis Dis
2017 Jan;1863(1):15-20.
Epub 2016 Sep 14
doi: 10.1016/j.bbadis.2016.09.011.
PMID: 27639833
Stiff T,
Casar Tena T,
O'Driscoll M,
Jeggo PA,
Philipp M
Hum Mol Genet
2016 Apr 15;25(8):1574-87.
Epub 2016 Feb 11
doi: 10.1093/hmg/ddw034.
PMID: 26908596Free PMC Article
Birkebaek NH,
Wolthers OD,
Heuch C,
Balslev T,
Flyvbjerg A,
Frystyk J
J Pediatr Endocrinol Metab
2011;24(11-12):995-1000.
doi: 10.1515/jpem.2011.369.
PMID: 22308854
Murthy J,
Seshadri KG,
Ramanan PV,
Rajamani A,
Hussain A
Cleft Palate Craniofac J
2004 Mar;41(2):202-5.
doi: 10.1597/02-087.
PMID: 14989682
Ducos B,
Cabrol S,
Houang M,
Perin L,
Holzenberger M,
Le Bouc Y
J Clin Endocrinol Metab
2001 Nov;86(11):5516-24.
doi: 10.1210/jcem.86.11.7985.
PMID: 11701730
Prognosis
Ravindran E,
Jühlen R,
Vieira-Vieira CH,
Ha T,
Salzberg Y,
Fichtman B,
Luise-Becker L,
Martins N,
Picker-Minh S,
Bessa P,
Arts P,
Jackson MR,
Taranath A,
Kamien B,
Barnett C,
Li N,
Tarabykin V,
Stoltenburg-Didinger G,
Harel A,
Selbach M,
Dickmanns A,
Fahrenkrog B,
Hu H,
Scott H,
Kaindl AM
Hum Mol Genet
2021 Nov 1;30(22):2068-2081.
doi: 10.1093/hmg/ddab160.
PMID: 34170319Free PMC Article
Scalet D,
Balestra D,
Rohban S,
Bovolenta M,
Perrone D,
Bernardi F,
Campaner S,
Pinotti M
Biochim Biophys Acta Mol Basis Dis
2017 Jan;1863(1):15-20.
Epub 2016 Sep 14
doi: 10.1016/j.bbadis.2016.09.011.
PMID: 27639833
Ramieri V,
Tarani L,
Costantino F,
Basile E,
Liberati N,
Rinna C,
Cascone P,
Colloridi F
J Craniofac Surg
2011 Nov;22(6):2124-8.
doi: 10.1097/SCS.0b013e3182323cdf.
PMID: 22067867
Hopkins TE,
Haines SJ
J Neurosurg
2003 May;98(5):1113-5.
doi: 10.3171/jns.2003.98.5.1113.
PMID: 12744374
Silengo M,
Del Monaco A,
Linari A,
Lala R
Am J Med Genet
2001 Jul 1;101(3):275-8.
doi: 10.1002/ajmg.1384.
PMID: 11424145
Clinical prediction guides
Smits DJ,
Schot R,
Popescu CA,
Dias KR,
Ades L,
Briere LC,
Sweetser DA,
Kushima I,
Aleksic B,
Khan S,
Karageorgou V,
Ordonez N,
Sleutels FJGT,
van der Kaay DCM,
Van Mol C,
Van Esch H,
Bertoli-Avella AM,
Roscioli T,
Mancini GMS
Hum Genet
2023 Jul;142(7):949-964.
Epub 2023 May 17
doi: 10.1007/s00439-023-02569-7.
PMID: 37198333Free PMC Article
Scalet D,
Balestra D,
Rohban S,
Bovolenta M,
Perrone D,
Bernardi F,
Campaner S,
Pinotti M
Biochim Biophys Acta Mol Basis Dis
2017 Jan;1863(1):15-20.
Epub 2016 Sep 14
doi: 10.1016/j.bbadis.2016.09.011.
PMID: 27639833
Ogi T,
Walker S,
Stiff T,
Hobson E,
Limsirichaikul S,
Carpenter G,
Prescott K,
Suri M,
Byrd PJ,
Matsuse M,
Mitsutake N,
Nakazawa Y,
Vasudevan P,
Barrow M,
Stewart GS,
Taylor AM,
O'Driscoll M,
Jeggo PA
PLoS Genet
2012;8(11):e1002945.
Epub 2012 Nov 8
doi: 10.1371/journal.pgen.1002945.
PMID: 23144622Free PMC Article
Qvist P,
Huertas P,
Jimeno S,
Nyegaard M,
Hassan MJ,
Jackson SP,
Børglum AD
PLoS Genet
2011 Oct;7(10):e1002310.
Epub 2011 Oct 6
doi: 10.1371/journal.pgen.1002310.
PMID: 21998596Free PMC Article
Silengo M,
Del Monaco A,
Linari A,
Lala R
Am J Med Genet
2001 Jul 1;101(3):275-8.
doi: 10.1002/ajmg.1384.
PMID: 11424145