224 related articles for article (PubMed ID: 23772534)
1. [Case report : usefulness of the airwayscope for difficult intubations in a pediatric patients with Coffin-Siris syndrome].
Sakugawa Y; Kamizato K; Miyata Y; Kakinohana M; Sugahara K
Masui; 2013 May; 62(5):589-91. PubMed ID: 23772534
[TBL] [Abstract][Full Text] [Related]
2. [Emergency cesarean in a patient with Coffin-Siris syndrome].
Fornet I; Morillas P; López MA; Palacio FJ; Aguilar JM; Mesa JL
Rev Esp Anestesiol Reanim; 2007 Nov; 54(9):563-5. PubMed ID: 18085110
[TBL] [Abstract][Full Text] [Related]
3. Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum.
Coulibaly B; Sigaudy S; Girard N; Popovici C; Missirian C; Heckenroth H; Tasei AM; Fernandez C
Eur J Med Genet; 2010; 53(5):318-21. PubMed ID: 20624500
[TBL] [Abstract][Full Text] [Related]
4. Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease.
Keskinen S; Paakkola T; Mattila M; Hietala M; Koillinen H; Laine J; Haanpää MK
Pediatr Dev Pathol; 2024; 27(2):181-186. PubMed ID: 37981638
[TBL] [Abstract][Full Text] [Related]
5. First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review.
Diel H; Ding C; Grehn F; Chronopoulos P; Bartsch O; Hoffmann EM
BMC Ophthalmol; 2021 Jan; 21(1):28. PubMed ID: 33430815
[TBL] [Abstract][Full Text] [Related]
6. Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome.
Vergano SS; Deardorff MA
Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):252-6. PubMed ID: 25169447
[TBL] [Abstract][Full Text] [Related]
7. Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.
Zweier C; Rittinger O; Bader I; Berland S; Cole T; Degenhardt F; Di Donato N; Graul-Neumann L; Hoyer J; Lynch SA; Vlasak I; Wieczorek D
Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):290-301. PubMed ID: 25099957
[TBL] [Abstract][Full Text] [Related]
8. A boy with Coffin-Siris syndrome with a novel frameshift mutation in ARID1B.
Park H; Kim MS; Kim J; Jang JH; Choi JM; Lee SM; Cho SY; Jin DK
Neuro Endocrinol Lett; 2021 Jan; 41(6):285-289. PubMed ID: 33714239
[TBL] [Abstract][Full Text] [Related]
9. [Use of Airwayscope with pediatric intlock in a patient with first and second branchial arch syndrome].
Kubota A; Takeda A; Arai T; Murozono M
Masui; 2013 Dec; 62(12):1419-21. PubMed ID: 24498773
[TBL] [Abstract][Full Text] [Related]
10. Numerous BAF complex genes are mutated in Coffin-Siris syndrome.
Miyake N; Tsurusaki Y; Matsumoto N
Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):257-61. PubMed ID: 25081545
[TBL] [Abstract][Full Text] [Related]
11. Tracheal intubation by non-anesthesia residents using the Pentax-AWS airway scope and Macintosh laryngoscope.
Hirabayashi Y; Seo N
J Clin Anesth; 2009 Jun; 21(4):268-71. PubMed ID: 19502032
[TBL] [Abstract][Full Text] [Related]
12. A 69-year-old woman with Coffin-Siris syndrome.
Määttänen L; Hietala M; Ignatius J; Arvio M
Am J Med Genet A; 2018 Aug; 176(8):1764-1767. PubMed ID: 30055038
[TBL] [Abstract][Full Text] [Related]
13. Hepatomegaly in a boy with ARID1B-related Coffin-Siris syndrome.
Natsume T; Takano K; Motobayashi M; Kosho T
Pediatr Int; 2018 Apr; 60(4):378-380. PubMed ID: 29504208
[No Abstract] [Full Text] [Related]
14. Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
Vasileiou G; Vergarajauregui S; Endele S; Popp B; Büttner C; Ekici AB; Gerard M; Bramswig NC; Albrecht B; Clayton-Smith J; Morton J; Tomkins S; Low K; Weber A; Wenzel M; Altmüller J; Li Y; Wollnik B; Hoganson G; Plona MR; Cho MT; ; Thiel CT; Lüdecke HJ; Strom TM; Calpena E; Wilkie AOM; Wieczorek D; Engel FB; Reis A
Am J Hum Genet; 2018 Mar; 102(3):468-479. PubMed ID: 29429572
[TBL] [Abstract][Full Text] [Related]
15. Magnetically Controlled Growing Rods for Early Scoliosis Treatment in Coffin-Siris Syndrome: Case Report and Literature Review.
Andreozzi V; Princi G; Labianca L; Rinaldi D; Ferretti A
Iowa Orthop J; 2021; 41(1):55-59. PubMed ID: 34552404
[TBL] [Abstract][Full Text] [Related]
16. De novo SOX11 mutations cause Coffin-Siris syndrome.
Tsurusaki Y; Koshimizu E; Ohashi H; Phadke S; Kou I; Shiina M; Suzuki T; Okamoto N; Imamura S; Yamashita M; Watanabe S; Yoshiura K; Kodera H; Miyatake S; Nakashima M; Saitsu H; Ogata K; Ikegawa S; Miyake N; Matsumoto N
Nat Commun; 2014 Jun; 5():4011. PubMed ID: 24886874
[TBL] [Abstract][Full Text] [Related]
17. Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.
Gazdagh G; Blyth M; Scurr I; Turnpenny PD; Mehta SG; Armstrong R; McEntagart M; Newbury-Ecob R; Tobias ES; ; Joss S
Eur J Med Genet; 2019 Jan; 62(1):27-34. PubMed ID: 29698805
[TBL] [Abstract][Full Text] [Related]
18. Coffin-Siris syndrome is a SWI/SNF complex disorder.
Tsurusaki Y; Okamoto N; Ohashi H; Mizuno S; Matsumoto N; Makita Y; Fukuda M; Isidor B; Perrier J; Aggarwal S; Dalal AB; Al-Kindy A; Liebelt J; Mowat D; Nakashima M; Saitsu H; Miyake N; Matsumoto N
Clin Genet; 2014 Jun; 85(6):548-54. PubMed ID: 23815551
[TBL] [Abstract][Full Text] [Related]
19. Coffin-Siris syndrome and epilepsy.
Curcio MR; Ferranti S; Lotti F; Grosso S
Neurol Sci; 2021 Feb; 42(2):727-729. PubMed ID: 33006724
[TBL] [Abstract][Full Text] [Related]
20. Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.
Kosho T; Miyake N; Carey JC
Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):241-51. PubMed ID: 25169878
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]