Literature DB >> 9497256

Mutations of the RET-GDNF signaling pathway in Ondine's curse.

J Amiel, R Salomon, T Attié, A Pelet, H Trang, M Mokhtari, C Gaultier, A Munnich, S Lyonnet.   

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Year:  1998        PMID： 9497256      PMCID： PMC1376953          DOI： 10.1086/301759

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  14 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 candidate gene study of obstructive sleep apnea in European Americans and African Americans.

Authors:  Emma K Larkin; Sanjay R Patel; Robert J Goodloe; Yali Li; Xiaofeng Zhu; Courtney Gray-McGuire; Mark D Adams; Susan Redline
Journal:  Am J Respir Crit Care Med       Date:  2010-06-10       Impact factor: 21.405

3.  Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations.

Authors:  Rajshekhar Chatterjee; Enrique Ramos; Mary Hoffman; Jessica VanWinkle; Daniel R Martin; Thomas K Davis; Masato Hoshi; Stanley P Hmiel; Anne Beck; Keith Hruska; Doug Coplen; Helen Liapis; Robi Mitra; Todd Druley; Paul Austin; Sanjay Jain
Journal:  Hum Genet       Date:  2012-06-23       Impact factor: 4.132

4.  Sympathoadrenal hyperplasia causes renal malformations in Ret(MEN2B)-transgenic mice.

Authors:  C Gestblom; D A Sweetser; B Doggett; R P Kapur
Journal:  Am J Pathol       Date:  1999-12       Impact factor: 4.307

5.  PHOX2B polyalanine repeat length is associated with sudden infant death syndrome and unclassified sudden infant death in the Dutch population.

Authors:  Germaine Liebrechts-Akkerman; Fan Liu; Oscar Lao; Ariadne H A G Ooms; Kate van Duijn; Mark Vermeulen; Vincent W Jaddoe; Albert Hofman; Adèle C Engelberts; Manfred Kayser
Journal:  Int J Legal Med       Date:  2014-01-18       Impact factor: 2.686

6.  Brain-derived neurotrophic factor and glial cell line-derived neurotrophic factor are required simultaneously for survival of dopaminergic primary sensory neurons in vivo.

Authors:  J T Erickson; T A Brosenitsch; D M Katz
Journal:  J Neurosci       Date:  2001-01-15       Impact factor: 6.167

Review 7.  Targeting RET-driven cancers: lessons from evolving preclinical and clinical landscapes.

Authors:  Alexander Drilon; Zishuo I Hu; Gillianne G Y Lai; Daniel S W Tan
Journal:  Nat Rev Clin Oncol       Date:  2017-11-14       Impact factor: 66.675

Review 8.  Kinase mutations in human disease: interpreting genotype-phenotype relationships.

Authors:  Piya Lahiry; Ali Torkamani; Nicholas J Schork; Robert A Hegele
Journal:  Nat Rev Genet       Date:  2010-01       Impact factor: 53.242

9.  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 10.  Congenital central hypoventilation syndrome: a bedside-to-bench success story for advancing early diagnosis and treatment and improved survival and quality of life.

Authors:  Debra E Weese-Mayer; Casey M Rand; Amy Zhou; Michael S Carroll; Carl E Hunt
Journal:  Pediatr Res       Date:  2016-09-27       Impact factor: 3.756
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