Literature DB >> 15590965

Mutation of perinatal myosin heavy chain.

Constantine A Stratakis, Jerome Bertherat, J Aidan Carney.   

Abstract

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Year:  2004        PMID： 15590965     DOI： 10.1056/NEJM200412093512420

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  6 in total

1.  Rare diseases in clinical endocrinology: a taxonomic classification system.

Authors:  G Marcucci; L Cianferotti; P Beck-Peccoz; M Capezzone; F Cetani; A Colao; M V Davì; E degli Uberti; S Del Prato; R Elisei; A Faggiano; D Ferone; C Foresta; L Fugazzola; E Ghigo; G Giacchetti; F Giorgino; A Lenzi; P Malandrino; M Mannelli; C Marcocci; L Masi; F Pacini; G Opocher; A Radicioni; M Tonacchera; R Vigneri; M C Zatelli; M L Brandi
Journal:  J Endocrinol Invest       Date:  2014-11-07       Impact factor: 4.256

2.  Surgical Management of Carney Complex-Associated Pituitary Pathology.

Authors:  Russell R Lonser; Gautam U Mehta; Bogdan A Kindzelski; Abhik Ray-Chaudhury; Alexander O Vortmeyer; Robert Dickerman; Edward H Oldfield
Journal:  Neurosurgery       Date:  2017-05-01       Impact factor: 4.654

3.  [Carney complex. Clinical, pathological and genetic features in two generations of a family].

Authors:  D Rothacker; C Kerber
Journal:  Pathologe       Date:  2008-07       Impact factor: 1.011

Review 4.  Carney complex (CNC).

Authors:  Jérôme Bertherat
Journal:  Orphanet J Rare Dis       Date:  2006-06-06       Impact factor: 4.123

5.  Developmental myosins: expression patterns and functional significance.

Authors:  Stefano Schiaffino; Alberto C Rossi; Vika Smerdu; Leslie A Leinwand; Carlo Reggiani
Journal:  Skelet Muscle       Date:  2015-07-15       Impact factor: 4.912

6.  Intracardiac tumor as a rare manifestation of genetic syndromes-presentation of a family with Gorlin syndrome and a literature review.

Authors:  Krzysztof Szczałuba; Ewa Makuła; Anna Piórecka-Makuła; Justyna Sicińska; Małgorzata Rydzanicz; Piotr Gasperowicz; Rafał Płoski; Bożena Werner
Journal:  J Appl Genet       Date:  2020-09-22       Impact factor: 3.240
  6 in total

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