Literature DB >> 660365

Cutis gyratum and acanthosis nigricans associated with other anomalies: a distinctive syndrome.

R E Stevenson, G J Ferlauto, H A Taylor.   

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Year:  1978        PMID： 660365     DOI： 10.1016/s0022-3476(78)80371-0

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  8 in total

1.  Congenital craniofacial dysostosis and cutis gyratum: the Beare-Stevenson syndrome.

Authors:  B Bratanic; M Praprotnik; M Novosel-Sever
Journal:  Eur J Pediatr       Date:  1994-03       Impact factor: 3.183

2.  p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice.

Authors:  Yingli Wang; Xueyan Zhou; Kurun Oberoi; Robert Phelps; Ross Couwenhoven; Miao Sun; Amélie Rezza; Greg Holmes; Christopher J Percival; Jenna Friedenthal; Pavel Krejci; Joan T Richtsmeier; David L Huso; Michael Rendl; Ethylin Wang Jabs
Journal:  J Clin Invest       Date:  2012-05-15       Impact factor: 14.808

Review 3.  Genetic insights into the mechanisms of Fgf signaling.

Authors:  J Richard Brewer; Pierre Mazot; Philippe Soriano
Journal:  Genes Dev       Date:  2016-04-01       Impact factor: 11.361

Review 4.  Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis.

Authors:  Saïd C Azoury; Sashank Reddy; Vivek Shukla; Chu-Xia Deng
Journal:  Int J Biol Sci       Date:  2017-11-02       Impact factor: 6.580

5.  Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype.

Authors:  Filomena Lo Vecchio; Elisabetta Tabolacci; Veronica Nobile; Maria Grazia Pomponi; Roberta Pietrobono; Giovanni Neri; Simona Amenta; Ettore Candida; Cristina Grippaudo; Ettore Lo Cascio; Alessia Vita; Federica Tiberio; Alessandro Arcovito; Wanda Lattanzi; Maurizio Genuardi; Pietro Chiurazzi
Journal:  Genes (Basel)       Date:  2022-06-27       Impact factor: 4.141

6.  The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene.

Authors:  So-Hee Eun; Ki Ssu Ha; Bo-Kyung Je; Eung Seok Lee; Byung Min Choi; Jung Hwa Lee; Baik-Lin Eun; Kee Hwan Yoo
Journal:  J Korean Med Sci       Date:  2007-04       Impact factor: 2.153

7.  A Case of Beare-Stevenson Syndrome with Unusual Manifestations.

Authors:  Nitin Ron; Samuel Leung; Erin Carney; Alexis Gerber; Karen Laurie David
Journal:  Am J Case Rep       Date:  2016-04-15

8.  Report of a Father With Congenital Bilateral Absence of the Vas Deferens Fathering a Child With Beare-Stevenson Syndrome.

Authors:  Leonardo C Ferreira; José H Dantas Junior
Journal:  Front Genet       Date:  2020-02-25       Impact factor: 4.599
  8 in total

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