Literature DB >> 30358829

Letter to the Editor: "A Unique Case of Metastatic, Functional, Hereditary Paraganglioma Associated With an SDHC Germline Mutation".

Fady Hannah-Shmouni1,2, Roberto Londo-Mendoza1.   

Abstract

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Year:  2019        PMID： 30358829      PMCID： PMC6615305          DOI： 10.1210/jc.2018-02093

Source DB:  PubMed          Journal:  J Clin Endocrinol Metab        ISSN： 0021-972X            Impact factor:   5.958


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  7 in total

1.  CORRIGENDUM FOR "DICER1 Mutations Are Frequent in Adolescent-Onset Papillary Thyroid Carcinoma".

Authors: 
Journal:  J Clin Endocrinol Metab       Date:  2018-08-01       Impact factor: 5.958

2.  Homozygous Calcium-Sensing Receptor Polymorphism R544Q Presents as Hypocalcemic Hypoparathyroidism.

Authors:  Branca M Cavaco; Lucie Canaff; Alexis Nolin-Lapalme; Margarida Vieira; Tiago N Silva; Ana Saramago; Rita Domingues; Meilan M Rutter; Jonathan Hudon; James L Gleason; Valeriano Leite; Geoffrey N Hendy
Journal:  J Clin Endocrinol Metab       Date:  2018-08-01       Impact factor: 5.958

3.  Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing.

Authors:  Jacqueline Mersch; Nichole Brown; Sara Pirzadeh-Miller; Erin Mundt; Hannah C Cox; Krystal Brown; Melissa Aston; Lisa Esterling; Susan Manley; Theodora Ross
Journal:  JAMA       Date:  2018-09-25       Impact factor: 56.272

4.  Genetic Characterization of GnRH/LH-Responsive Primary Aldosteronism.

Authors:  Nadia Gagnon; Katia Y Cáceres-Gorriti; Gilles Corbeil; Nada El Ghoyareb; Natasha Ludwig; Mathieu Latour; André Lacroix; Isabelle Bourdeau
Journal:  J Clin Endocrinol Metab       Date:  2018-08-01       Impact factor: 5.958

5.  Impact of Genetic Polymorphism in the β2-Receptor Gene on Risk of Severe Hypoglycemia in Patients With Type 1 Diabetes.

Authors:  Kim Zillo Rokamp; Niels Vidiendal Olsen; Louise Færch; Peter Lommer Kristensen; Birger Thorsteinsson; Ulrik Pedersen-Bjergaard
Journal:  J Clin Endocrinol Metab       Date:  2018-08-01       Impact factor: 5.958

6.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

7.  A Unique Case of Metastatic, Functional, Hereditary Paraganglioma Associated With an SDHC Germline Mutation.

Authors:  Raquel Kristin S Ong; Shahida K Flores; Robert L Reddick; Patricia L M Dahia; Hassan Shawa
Journal:  J Clin Endocrinol Metab       Date:  2018-08-01       Impact factor: 5.958
  7 in total

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