146 related articles for article (PubMed ID: 23165645)
1. Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutation.
Reschen M; Kini U; Hood RL; Boycott KM; Hurst J; O'Callaghan CA
Am J Med Genet A; 2012 Dec; 158A(12):3196-200. PubMed ID: 23165645
[TBL] [Abstract][Full Text] [Related]
2. Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.
Hood RL; Lines MA; Nikkel SM; Schwartzentruber J; Beaulieu C; Nowaczyk MJ; Allanson J; Kim CA; Wieczorek D; Moilanen JS; Lacombe D; Gillessen-Kaesbach G; Whiteford ML; Quaio CR; Gomy I; Bertola DR; Albrecht B; Platzer K; McGillivray G; Zou R; McLeod DR; Chudley AE; Chodirker BN; Marcadier J; ; Majewski J; Bulman DE; White SM; Boycott KM
Am J Hum Genet; 2012 Feb; 90(2):308-13. PubMed ID: 22265015
[TBL] [Abstract][Full Text] [Related]
3. Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation.
Nagasaki K; Asami T; Sato H; Ogawa Y; Kikuchi T; Saitoh A; Ogata T; Fukami M
Am J Med Genet A; 2014 Mar; 164A(3):731-5. PubMed ID: 24375913
[TBL] [Abstract][Full Text] [Related]
4. Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.
Le Goff C; Mahaut C; Bottani A; Doray B; Goldenberg A; Moncla A; Odent S; Nitschke P; Munnich A; Faivre L; Cormier-Daire V
Hum Mutat; 2013 Jan; 34(1):88-92. PubMed ID: 22965468
[TBL] [Abstract][Full Text] [Related]
5. Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome.
Seifert W; Meinecke P; Krüger G; Rossier E; Heinritz W; Wüsthof A; Horn D
BMC Med Genet; 2014 Nov; 15():127. PubMed ID: 25433523
[TBL] [Abstract][Full Text] [Related]
6. Perthes disease: A new finding in Floating-Harbor syndrome.
Milani D; Scuvera G; Gatti M; Tolva G; Bonarrigo F; Esposito S; Gervasini C
Am J Med Genet A; 2018 Mar; 176(3):703-706. PubMed ID: 29383823
[TBL] [Abstract][Full Text] [Related]
7. When chromatin organisation floats astray: the Srcap gene and Floating-Harbor syndrome.
Messina G; Atterrato MT; Dimitri P
J Med Genet; 2016 Dec; 53(12):793-797. PubMed ID: 27208210
[TBL] [Abstract][Full Text] [Related]
8. Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34.
Kehrer M; Beckmann A; Wyduba J; Finckh U; Dufke A; Gaiser U; Tzschach A
Clin Genet; 2014 May; 85(5):498-9. PubMed ID: 23763483
[No Abstract] [Full Text] [Related]
9. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Rots D; Chater-Diehl E; Dingemans AJM; Goodman SJ; Siu MT; Cytrynbaum C; Choufani S; Hoang N; Walker S; Awamleh Z; Charkow J; Meyn S; Pfundt R; Rinne T; Gardeitchik T; de Vries BBA; Deden AC; Leenders E; Kwint M; Stumpel CTRM; Stevens SJC; Vermeulen JR; van Harssel JVT; Bosch DGM; van Gassen KLI; van Binsbergen E; de Geus CM; Brackel H; Hempel M; Lessel D; Denecke J; Slavotinek A; Strober J; Crunk A; Folk L; Wentzensen IM; Yang H; Zou F; Millan F; Person R; Xie Y; Liu S; Ousager LB; Larsen M; Schultz-Rogers L; Morava E; Klee EW; Berry IR; Campbell J; Lindstrom K; Pruniski B; Neumeyer AM; Radley JA; Phornphutkul C; Schmidt B; Wilson WG; Õunap K; Reinson K; Pajusalu S; van Haeringen A; Ruivenkamp C; Cuperus R; Santos-Simarro F; Palomares-Bralo M; Pacio-Míguez M; Ritter A; Bhoj E; Tønne E; Tveten K; Cappuccio G; Brunetti-Pierri N; Rowe L; Bunn J; Saenz M; Platzer K; Mertens M; Caluseriu O; Nowaczyk MJM; Cohn RD; Kannu P; Alkhunaizi E; Chitayat D; Scherer SW; Brunner HG; Vissers LELM; Kleefstra T; Koolen DA; Weksberg R
Am J Hum Genet; 2021 Jun; 108(6):1053-1068. PubMed ID: 33909990
[TBL] [Abstract][Full Text] [Related]
10. Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome.
Zhang S; Chen S; Qin H; Yuan H; Pi Y; Yang Y; Huang H; Li G; Sun Y; Wang Z; Ma H; Fu X; Zhou T; Wang J; Zhang H; Shen Y
Orphanet J Rare Dis; 2019 Jun; 14(1):144. PubMed ID: 31200758
[TBL] [Abstract][Full Text] [Related]
11. Intracranial vascular pathology in two further patients with Floating-Harbor syndrome: Proposals for cerebrovascular disease risk management.
Menzies L; D'Arco F; Ganesan V; Hurst JA
Eur J Med Genet; 2020 Apr; 63(4):103785. PubMed ID: 31605816
[TBL] [Abstract][Full Text] [Related]
12. The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.
Nikkel SM; Dauber A; de Munnik S; Connolly M; Hood RL; Caluseriu O; Hurst J; Kini U; Nowaczyk MJ; Afenjar A; Albrecht B; Allanson JE; Balestri P; Ben-Omran T; Brancati F; Cordeiro I; da Cunha BS; Delaney LA; Destrée A; Fitzpatrick D; Forzano F; Ghali N; Gillies G; Harwood K; Hendriks YM; Héron D; Hoischen A; Honey EM; Hoefsloot LH; Ibrahim J; Jacob CM; Kant SG; Kim CA; Kirk EP; Knoers NV; Lacombe D; Lee C; Lo IF; Lucas LS; Mari F; Mericq V; Moilanen JS; Møller ST; Moortgat S; Pilz DT; Pope K; Price S; Renieri A; Sá J; Schoots J; Silveira EL; Simon ME; Slavotinek A; Temple IK; van der Burgt I; de Vries BB; Weisfeld-Adams JD; Whiteford ML; Wierczorek D; Wit JM; Yee CF; Beaulieu CL; ; White SM; Bulman DE; Bongers E; Brunner H; Feingold M; Boycott KM
Orphanet J Rare Dis; 2013 Apr; 8():63. PubMed ID: 23621943
[TBL] [Abstract][Full Text] [Related]
13. [Identification of a novel frameshift variant in the SRCAP gene of a child with Floating-Harbor syndrome].
Wu R; Tang W; Qiu K; Zhou X; Li X; Li P
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Oct; 37(10):1124-1127. PubMed ID: 32924116
[TBL] [Abstract][Full Text] [Related]
14. Case Report of Floating-Harbor Syndrome With Bilateral Cleft Lip.
Ko J; Pomerantz JH; Perry H; Shieh JT; Slavotinek AM; Oberoi S; Klein OD
Cleft Palate Craniofac J; 2020 Jan; 57(1):132-136. PubMed ID: 31248274
[TBL] [Abstract][Full Text] [Related]
15. Chiari I malformation as part of the Floating-Harbor syndrome?
Kurzbuch AR; Magdum S
Eur J Med Genet; 2016 Dec; 59(12):615-617. PubMed ID: 27815143
[TBL] [Abstract][Full Text] [Related]
16. Single Amino Acid Change Underlies Distinct Roles of H2A.Z Subtypes in Human Syndrome.
Greenberg RS; Long HK; Swigut T; Wysocka J
Cell; 2019 Sep; 178(6):1421-1436.e24. PubMed ID: 31491386
[TBL] [Abstract][Full Text] [Related]
17. [Floating-Harbor syndrome: a case report and literature review].
Li RM; Lu YC; Li Z; Wang JY; Chang J; Lei SQ; Zeng Q; Sang YM
Zhongguo Dang Dai Er Ke Za Zhi; 2019 Dec; 21(12):1208-1211. PubMed ID: 31874661
[TBL] [Abstract][Full Text] [Related]
18. Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients.
Inoue T; Nakamura A; Iwahashi-Odano M; Tanase-Nakao K; Matsubara K; Nishioka J; Maruo Y; Hasegawa Y; Suzumura H; Sato S; Kobayashi Y; Murakami N; Nakabayashi K; Yamazawa K; Fuke T; Narumi S; Oka A; Ogata T; Fukami M; Kagami M
Clin Epigenetics; 2020 Jun; 12(1):86. PubMed ID: 32546215
[TBL] [Abstract][Full Text] [Related]
19. Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.
Lopez E; Callier P; Cormier-Daire V; Lacombe D; Moncla A; Bottani A; Lambert S; Goldenberg A; Doray B; Odent S; Sanlaville D; Gueneau L; Duplomb L; Huet F; Aral B; Thauvin-Robinet C; Faivre L
Am J Med Genet A; 2012 Feb; 158A(2):333-9. PubMed ID: 22247066
[TBL] [Abstract][Full Text] [Related]
20. A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene.
Zhao B; Madden JA; Lin J; Berry GT; Wojcik MH; Zhao X; Brand H; Talkowski M; Lee EA; Agrawal PB
Eur J Hum Genet; 2022 Sep; 30(9):1083-1087. PubMed ID: 35768521
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]