Literature DB >> 32996068

The value of whole exome sequencing for genetic diagnosis in a patient with Bloom syndrome.

E Cottrell1, T Ladha1, H Borysewicz-Sańczyk2, B Sawicka2, M O Savage1, A T Bossowski3, H L Storr1.   

Abstract

Entities:  

Year:  2020        PMID： 32996068     DOI： 10.1007/s40618-020-01433-z

Source DB:  PubMed          Journal:  J Endocrinol Invest        ISSN： 0391-4097            Impact factor:   4.256


× No keyword cloud information.
  4 in total

1.  Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.

Authors:  James German; Maureen M Sanz; Susan Ciocci; Tian Z Ye; Nathan A Ellis
Journal:  Hum Mutat       Date:  2007-08       Impact factor: 4.878

2.  Health supervision for people with Bloom syndrome.

Authors:  Christopher Cunniff; Amir Reza Djavid; Steven Carrubba; Bernard Cohen; Nathan A Ellis; Carolyn Fein Levy; Stacy Jeong; Howard M Lederman; Maria Vogiatzi; Michael F Walsh; Ann Graham Zauber
Journal:  Am J Med Genet A       Date:  2018-07-28       Impact factor: 2.802

Review 3.  Clinical features of Bloom syndrome and function of the causative gene, BLM helicase.

Authors:  Hideo Kaneko; Naomi Kondo
Journal:  Expert Rev Mol Diagn       Date:  2004-05       Impact factor: 5.225

4.  Bloom syndrome in short children born small for gestational age: a challenging diagnosis.

Authors:  Judith S Renes; Ruben H Willemsen; Anja Wagner; Martijn J J Finken; Anita C S Hokken-Koelega
Journal:  J Clin Endocrinol Metab       Date:  2013-08-08       Impact factor: 5.958
  4 in total
  2 in total

1.  Balanced assessment of growth disorders using clinical, endocrinological, and genetic approaches.

Authors:  Martin Oswald Savage; Helen Louise Storr
Journal:  Ann Pediatr Endocrinol Metab       Date:  2021-12-31

2.  Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.

Authors:  Afiya Andrews; Avinaash Maharaj; Emily Cottrell; Sumana Chatterjee; Pratik Shah; Louise Denvir; Katja Dumic; Artur Bossowski; Talat Mushtaq; Rade Vukovic; Mohamed Didi; Nick Shaw; Louise A Metherell; Martin O Savage; Helen L Storr
Journal:  J Clin Endocrinol Metab       Date:  2021-10-21       Impact factor: 5.958
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.