Literature DB >> 8696331

Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome.

S Bolk, M Angrist, J Xie, M Yanagisawa, J M Silvestri, D E Weese-Mayer, A Chakravarti.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1996        PMID： 8696331     DOI： 10.1038/ng0896-395

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


× No keyword cloud information.
  8 in total

Review 1.  Hirschsprung disease, associated syndromes, and genetics: a review.

Authors:  J Amiel; S Lyonnet
Journal:  J Med Genet       Date:  2001-11       Impact factor: 6.318

2.  A novel de novo 20q13.32-q13.33 deletion in a 2-year-old child with poor growth, feeding difficulties and low bone mass.

Authors:  Meena Balasubramanian; Edward Atack; Kath Smith; Michael James Parker
Journal:  J Hum Genet       Date:  2015-03-12       Impact factor: 3.172

3.  2013 William Allan Award: My multifactorial journey.

Authors:  Aravinda Chakravarti
Journal:  Am J Hum Genet       Date:  2014-03-06       Impact factor: 11.025

4.  Anesthetic management of a child with congenital central hypoventilation syndrome (CCHS, Ondine's curse) for dental treatment.

Authors:  Hajime Ishibashi; Koji Umezawa; Sachiyo Hayashi; Koh Shibutani
Journal:  Anesth Prog       Date:  2004

Review 5.  Congenital central hypoventilation syndrome and Hirschsprung's disease.

Authors:  G D Croaker; E Shi; E Simpson; T Cartmill; D T Cass
Journal:  Arch Dis Child       Date:  1998-04       Impact factor: 3.791

6.  Molecular analysis of congenital central hypoventilation syndrome.

Authors:  Ayako Sasaki; Masayo Kanai; Kazuki Kijima; Kazuhiro Akaba; Motoya Hashimoto; Hisaya Hasegawa; Shinsuke Otaki; Takenobu Koizumi; Satoshi Kusuda; Youhei Ogawa; Keiji Tuchiya; Wakako Yamamoto; Tomohiko Nakamura; Kiyoshi Hayasaka
Journal:  Hum Genet       Date:  2003-10-18       Impact factor: 4.132

Review 7.  Research Advances on Therapeutic Approaches to Congenital Central Hypoventilation Syndrome (CCHS).

Authors:  Simona Di Lascio; Roberta Benfante; Silvia Cardani; Diego Fornasari
Journal:  Front Neurosci       Date:  2021-01-12       Impact factor: 4.677

Review 8.  Genetic Factors Underlying Sudden Infant Death Syndrome.

Authors:  Christine Keywan; Annapurna H Poduri; Richard D Goldstein; Ingrid A Holm
Journal:  Appl Clin Genet       Date:  2021-02-15
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.