Literature DB >> 5442442

Mental retardation with absent fifth fingernail and terminal phalanx.

G S Coffin, E Siris.   

Abstract

Entities:  

Mesh:

Year:  1970        PMID: 5442442     DOI: 10.1001/archpedi.1970.02100050435009

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN: 0002-922X


× No keyword cloud information.
  39 in total

1.  Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

Authors:  Gijs W E Santen; Emmelien Aten; Yu Sun; Rowida Almomani; Christian Gilissen; Maartje Nielsen; Sarina G Kant; Irina N Snoeck; Els A J Peeters; Yvonne Hilhorst-Hofstee; Marja W Wessels; Nicolette S den Hollander; Claudia A L Ruivenkamp; Gert-Jan B van Ommen; Martijn H Breuning; Johan T den Dunnen; Arie van Haeringen; Marjolein Kriek
Journal:  Nat Genet       Date:  2012-03-18       Impact factor: 38.330

2.  The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.

Authors:  Samantha A Schrier; Joann N Bodurtha; Barbara Burton; Albert E Chudley; Mary Anne D Chiong; Maria Gabriella D'avanzo; Sally Ann Lynch; Antonio Musio; Dmitriy M Nyazov; Pedro A Sanchez-Lara; Stavit A Shalev; Matthew A Deardorff
Journal:  Am J Med Genet A       Date:  2012-06-18       Impact factor: 2.802

3.  Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

Authors:  Nuria C Bramswig; Hermann-Josef Lüdecke; Yasemin Alanay; Beate Albrecht; Alexander Barthelmie; Koray Boduroglu; Diana Braunholz; Almuth Caliebe; Krystyna H Chrzanowska; Johanna Christina Czeschik; Sabine Endele; Elisabeth Graf; Encarna Guillén-Navarro; Pelin Özlem Simsek Kiper; Vanesa López-González; Ilaria Parenti; Jelena Pozojevic; Gulen Eda Utine; Thomas Wieland; Frank J Kaiser; Bernd Wollnik; Tim M Strom; Dagmar Wieczorek
Journal:  Hum Genet       Date:  2015-02-28       Impact factor: 4.132

Review 4.  Coffin-Siris syndrome.

Authors:  P Levy; M Baraitser
Journal:  J Med Genet       Date:  1991-05       Impact factor: 6.318

5.  Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene.

Authors:  Mari-Anne Vals; Eve Õiglane-Shlik; Margit Nõukas; Riina Shor; Aleksandr Peet; Mart Kals; Paula Ann Kivistik; Andres Metspalu; Katrin Õunap
Journal:  Eur J Hum Genet       Date:  2014-02-26       Impact factor: 4.246

6.  Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

Authors:  Yoshinori Tsurusaki; Nobuhiko Okamoto; Hirofumi Ohashi; Tomoki Kosho; Yoko Imai; Yumiko Hibi-Ko; Tadashi Kaname; Kenji Naritomi; Hiroshi Kawame; Keiko Wakui; Yoshimitsu Fukushima; Tomomi Homma; Mitsuhiro Kato; Yoko Hiraki; Takanori Yamagata; Shoji Yano; Seiji Mizuno; Satoru Sakazume; Takuma Ishii; Toshiro Nagai; Masaaki Shiina; Kazuhiro Ogata; Tohru Ohta; Norio Niikawa; Satoko Miyatake; Ippei Okada; Takeshi Mizuguchi; Hiroshi Doi; Hirotomo Saitsu; Noriko Miyake; Naomichi Matsumoto
Journal:  Nat Genet       Date:  2012-03-18       Impact factor: 38.330

7.  Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report.

Authors:  Deepak Goyal; Dinesh K Yadav; Umesh Shukla; Sidharth K Sethi
Journal:  J Med Case Rep       Date:  2010-11-08

8.  Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.

Authors:  Georgia Vasileiou; Silvia Vergarajauregui; Sabine Endele; Bernt Popp; Christian Büttner; Arif B Ekici; Marion Gerard; Nuria C Bramswig; Beate Albrecht; Jill Clayton-Smith; Jenny Morton; Susan Tomkins; Karen Low; Astrid Weber; Maren Wenzel; Janine Altmüller; Yun Li; Bernd Wollnik; George Hoganson; Maria-Renée Plona; Megan T Cho; Christian T Thiel; Hermann-Josef Lüdecke; Tim M Strom; Eduardo Calpena; Andrew O M Wilkie; Dagmar Wieczorek; Felix B Engel; André Reis
Journal:  Am J Hum Genet       Date:  2018-02-08       Impact factor: 11.025

9.  The Coffin-Siris syndrome in two siblings.

Authors:  P Franceschini; M Cirillo Silengo; R Bianco; M Biagioli; A Guala; G Lopez Bell
Journal:  Pediatr Radiol       Date:  1986

10.  The Coffin-Siris syndrome.

Authors:  Q H Qazi; L S Heckman; D Markouizos; R S Verma
Journal:  J Med Genet       Date:  1990-05       Impact factor: 6.318

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.