Literature DB >> 24700687

Papillary thyroid cancer in a patient with interstitial 6q25 deletion including ARID1B.

Jaime Vengoechea1, Lori Carpenter, Yuri A Zárate.   

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Year:  2014        PMID: 24700687     DOI: 10.1002/ajmg.a.36515

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


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  5 in total

Review 1.  Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis.

Authors:  Till Holsten; Susanne Bens; Florian Oyen; Karolina Nemes; Martin Hasselblatt; Uwe Kordes; Reiner Siebert; Michael C Frühwald; Reinhard Schneppenheim; Ulrich Schüller
Journal:  Eur J Hum Genet       Date:  2018-04-30       Impact factor: 4.246

2.  Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea.

Authors:  Yena Lee; Yunha Choi; Go Hun Seo; Gu-Hwan Kim; Changwon Keum; Yoo-Mi Kim; Hyo-Sang Do; Jeongmin Choi; In Hee Choi; Han-Wook Yoo; Beom Hee Lee
Journal:  BMC Med Genomics       Date:  2021-10-27       Impact factor: 3.063

3.  Short stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome: a case report.

Authors:  Dong-Ying Tao; Huan-Hong Niu; Jing-Jing Zhang; Hui-Qin Zhang; Ming-Hua Zeng; Sheng-Quan Cheng
Journal:  BMC Pediatr       Date:  2022-08-13       Impact factor: 2.567

4.  The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:  Pleuntje J van der Sluijs; Sandra Jansen; Samantha A Vergano; Miho Adachi-Fukuda; Yasemin Alanay; Adila AlKindy; Anwar Baban; Allan Bayat; Stefanie Beck-Wödl; Katherine Berry; Emilia K Bijlsma; Levinus A Bok; Alwin F J Brouwer; Ineke van der Burgt; Philippe M Campeau; Natalie Canham; Krystyna Chrzanowska; Yoyo W Y Chu; Brain H Y Chung; Karin Dahan; Marjan De Rademaeker; Anne Destree; Tracy Dudding-Byth; Rachel Earl; Nursel Elcioglu; Ellen R Elias; Christina Fagerberg; Alice Gardham; Blanca Gener; Erica H Gerkes; Ute Grasshoff; Arie van Haeringen; Karin R Heitink; Johanna C Herkert; Nicolette S den Hollander; Denise Horn; David Hunt; Sarina G Kant; Mitsuhiro Kato; Hülya Kayserili; Rogier Kersseboom; Esra Kilic; Malgorzata Krajewska-Walasek; Kylin Lammers; Lone W Laulund; Damien Lederer; Melissa Lees; Vanesa López-González; Saskia Maas; Grazia M S Mancini; Carlo Marcelis; Francisco Martinez; Isabelle Maystadt; Marianne McGuire; Shane McKee; Sarju Mehta; Kay Metcalfe; Jeff Milunsky; Seiji Mizuno; John B Moeschler; Christian Netzer; Charlotte W Ockeloen; Barbara Oehl-Jaschkowitz; Nobuhiko Okamoto; Sharon N M Olminkhof; Carmen Orellana; Laurent Pasquier; Caroline Pottinger; Vera Riehmer; Stephen P Robertson; Maian Roifman; Caroline Rooryck; Fabienne G Ropers; Monica Rosello; Claudia A L Ruivenkamp; Mahmut S Sagiroglu; Suzanne C E H Sallevelt; Amparo Sanchis Calvo; Pelin O Simsek-Kiper; Gabriela Soares; Lucia Solaeche; Fatma Mujgan Sonmez; Miranda Splitt; Duco Steenbeek; Alexander P A Stegmann; Constance T R M Stumpel; Saori Tanabe; Eyyup Uctepe; G Eda Utine; Hermine E Veenstra-Knol; Sunita Venkateswaran; Catheline Vilain; Catherine Vincent-Delorme; Anneke T Vulto-van Silfhout; Patricia Wheeler; Golder N Wilson; Louise C Wilson; Bernd Wollnik; Tomoki Kosho; Dagmar Wieczorek; Evan Eichler; Rolph Pfundt; Bert B A de Vries; Jill Clayton-Smith; Gijs W E Santen
Journal:  Genet Med       Date:  2018-11-08       Impact factor: 8.822

5.  Novel TG-FGFR1 and TRIM33-NTRK1 transcript fusions in papillary thyroid carcinoma.

Authors:  Aleksandra Pfeifer; Dagmara Rusinek; Jadwiga Żebracka-Gala; Agnieszka Czarniecka; Ewa Chmielik; Ewa Zembala-Nożyńska; Bartosz Wojtaś; Bartłomiej Gielniewski; Sylwia Szpak-Ulczok; Małgorzata Oczko-Wojciechowska; Jolanta Krajewska; Joanna Polańska; Barbara Jarząb
Journal:  Genes Chromosomes Cancer       Date:  2019-02-18       Impact factor: 5.006

  5 in total

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