Literature DB >> 15235037

SEMA3E mutation in a patient with CHARGE syndrome.

S R Lalani, A M Safiullah, L M Molinari, S D Fernbach, D M Martin, J W Belmont.   

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Year:  2004        PMID： 15235037      PMCID： PMC1735828          DOI： 10.1136/jmg.2003.017640

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  48 in total

Review 1.  Cranial neural crest cells on the move: their roles in craniofacial development.

Authors:  Dwight R Cordero; Samantha Brugmann; Yvonne Chu; Ruchi Bajpai; Maryam Jame; Jill A Helms
Journal:  Am J Med Genet A       Date:  2010-12-10       Impact factor: 2.802

Review 2.  CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.

Authors:  Benjamin J Landis; David S Cooper; Robert B Hinton
Journal:  Cardiol Young       Date:  2015-09-08       Impact factor: 1.093

Review 3.  Genetic Disorders of Parathyroid Development and Function.

Authors:  Rebecca J Gordon; Michael A Levine
Journal:  Endocrinol Metab Clin North Am       Date:  2018-10-12       Impact factor: 4.741

Review 4.  The neural crest in cardiac congenital anomalies.

Authors:  Anna Keyte; Mary Redmond Hutson
Journal:  Differentiation       Date:  2012-05-15       Impact factor: 3.880

5.  Prevalence of genetic testing in CHARGE syndrome.

Authors:  Timothy S Hartshorne; Kasee K Stratton; Conny M A van Ravenswaaij-Arts
Journal:  J Genet Couns       Date:  2010-09-28       Impact factor: 2.537

Review 6.  Plexin structures are coming: opportunities for multilevel investigations of semaphorin guidance receptors, their cell signaling mechanisms, and functions.

Authors:  Prasanta K Hota; Matthias Buck
Journal:  Cell Mol Life Sci       Date:  2012-06-29       Impact factor: 9.261

7.  The C20orf133 gene is disrupted in a patient with Kabuki syndrome.

Authors:  Nicole M C Maas; Tom Van de Putte; Cindy Melotte; Annick Francis; Constance T R M Schrander-Stumpel; Damien Sanlaville; David Genevieve; Stanislas Lyonnet; Boyan Dimitrov; Koenraad Devriendt; Jean-Pierre Fryns; Joris R Vermeesch
Journal:  BMJ Case Rep       Date:  2009-06-30

8.  Sema3E is required for migration of cranial neural crest cells in zebrafish: Implications for the pathogenesis of CHARGE syndrome.

Authors:  Zhi-Zhi Liu; Jingjing Guo; Yanli Lu; Wenfeng Liu; Xiaofeng Fu; Tianbing Yao; Yanjun Zhou; Hong A Xu
Journal:  Int J Exp Pathol       Date:  2019-08-28       Impact factor: 1.925

Review 9.  Hearing loss and renal syndromes.

Authors:  Paul J Phelan; Michelle N Rheault
Journal:  Pediatr Nephrol       Date:  2017-11-12       Impact factor: 3.714

10.  Implications of a Chr7q21.11 Microdeletion and the Role of the PCLO Gene in Developmental Delay.

Authors:  Roberto L Mazzaschi; Fern Ashton; Salim Aftimos; Alice M George; Donald R Love
Journal:  Sultan Qaboos Univ Med J       Date:  2013-05-09
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