A frequent oligogenic involvement in congenital hypothyroidism

Tiziana de Filippis, Giulia Gelmini, Elvezia Paraboschi, Maria Cristina Vigone, Marianna Di Frenna, Federica Marelli, Marco Bonomi, Alessandra Cassio, Daniela Larizza, Mirella Moro, Giorgio Radetti, Mariacarolina Salerno, Diego Ardissino, Giovanna Weber, Davide Gentilini, Fabiana Guizzardi, Stefano Duga, Luca Persani

Research output: Contribution to journalArticle

Abstract

Congenital hypothyroidism (CH), the most frequent form of preventable mental retardation, is predicted to have a relevant genetic origin. However, CH is frequently reported to be sporadic and candidate gene variations were found in 
Original languageEnglish
Pages (from-to)2507-2514
Number of pages8
JournalHuman Molecular Genetics
Volume26
Issue number13
DOIs
Publication statusPublished - Jul 1 2017

Fingerprint

Congenital Hypothyroidism
Intellectual Disability
Genes

Keywords

  • Cohort Studies
  • Computational Biology
  • Congenital Hypothyroidism
  • Female
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Italy
  • Male
  • Multifactorial Inheritance
  • Mutation
  • Pedigree
  • Phenotype
  • Journal Article
  • Research Support, Non-U.S. Gov't

Cite this

A frequent oligogenic involvement in congenital hypothyroidism. / de Filippis, Tiziana; Gelmini, Giulia; Paraboschi, Elvezia; Vigone, Maria Cristina; Di Frenna, Marianna; Marelli, Federica; Bonomi, Marco; Cassio, Alessandra; Larizza, Daniela; Moro, Mirella; Radetti, Giorgio; Salerno, Mariacarolina; Ardissino, Diego; Weber, Giovanna; Gentilini, Davide; Guizzardi, Fabiana; Duga, Stefano; Persani, Luca.

In: Human Molecular Genetics, Vol. 26, No. 13, 01.07.2017, p. 2507-2514.

Research output: Contribution to journalArticle

de Filippis, T, Gelmini, G, Paraboschi, E, Vigone, MC, Di Frenna, M, Marelli, F, Bonomi, M, Cassio, A, Larizza, D, Moro, M, Radetti, G, Salerno, M, Ardissino, D, Weber, G, Gentilini, D, Guizzardi, F, Duga, S & Persani, L 2017, 'A frequent oligogenic involvement in congenital hypothyroidism', Human Molecular Genetics, vol. 26, no. 13, pp. 2507-2514. https://doi.org/10.1093/hmg/ddx145
de Filippis, Tiziana ; Gelmini, Giulia ; Paraboschi, Elvezia ; Vigone, Maria Cristina ; Di Frenna, Marianna ; Marelli, Federica ; Bonomi, Marco ; Cassio, Alessandra ; Larizza, Daniela ; Moro, Mirella ; Radetti, Giorgio ; Salerno, Mariacarolina ; Ardissino, Diego ; Weber, Giovanna ; Gentilini, Davide ; Guizzardi, Fabiana ; Duga, Stefano ; Persani, Luca. / A frequent oligogenic involvement in congenital hypothyroidism. In: Human Molecular Genetics. 2017 ; Vol. 26, No. 13. pp. 2507-2514.
@article{e4bd34ec05ba499198ac287c9d284a4a,
title = "A frequent oligogenic involvement in congenital hypothyroidism",
abstract = "Congenital hypothyroidism (CH), the most frequent form of preventable mental retardation, is predicted to have a relevant genetic origin. However, CH is frequently reported to be sporadic and candidate gene variations were found in ",
keywords = "Cohort Studies, Computational Biology, Congenital Hypothyroidism, Female, High-Throughput Nucleotide Sequencing, Humans, Italy, Male, Multifactorial Inheritance, Mutation, Pedigree, Phenotype, Journal Article, Research Support, Non-U.S. Gov't",
author = "{de Filippis}, Tiziana and Giulia Gelmini and Elvezia Paraboschi and Vigone, {Maria Cristina} and {Di Frenna}, Marianna and Federica Marelli and Marco Bonomi and Alessandra Cassio and Daniela Larizza and Mirella Moro and Giorgio Radetti and Mariacarolina Salerno and Diego Ardissino and Giovanna Weber and Davide Gentilini and Fabiana Guizzardi and Stefano Duga and Luca Persani",
note = "{\circledC} The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.",
year = "2017",
month = "7",
day = "1",
doi = "10.1093/hmg/ddx145",
language = "English",
volume = "26",
pages = "2507--2514",
journal = "Human Molecular Genetics",
issn = "0964-6906",
publisher = "Oxford University Press",
number = "13",

}

TY - JOUR

T1 - A frequent oligogenic involvement in congenital hypothyroidism

AU - de Filippis, Tiziana

AU - Gelmini, Giulia

AU - Paraboschi, Elvezia

AU - Vigone, Maria Cristina

AU - Di Frenna, Marianna

AU - Marelli, Federica

AU - Bonomi, Marco

AU - Cassio, Alessandra

AU - Larizza, Daniela

AU - Moro, Mirella

AU - Radetti, Giorgio

AU - Salerno, Mariacarolina

AU - Ardissino, Diego

AU - Weber, Giovanna

AU - Gentilini, Davide

AU - Guizzardi, Fabiana

AU - Duga, Stefano

AU - Persani, Luca

N1 - © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

PY - 2017/7/1

Y1 - 2017/7/1

N2 - Congenital hypothyroidism (CH), the most frequent form of preventable mental retardation, is predicted to have a relevant genetic origin. However, CH is frequently reported to be sporadic and candidate gene variations were found in 

AB - Congenital hypothyroidism (CH), the most frequent form of preventable mental retardation, is predicted to have a relevant genetic origin. However, CH is frequently reported to be sporadic and candidate gene variations were found in 

KW - Cohort Studies

KW - Computational Biology

KW - Congenital Hypothyroidism

KW - Female

KW - High-Throughput Nucleotide Sequencing

KW - Humans

KW - Italy

KW - Male

KW - Multifactorial Inheritance

KW - Mutation

KW - Pedigree

KW - Phenotype

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

U2 - 10.1093/hmg/ddx145

DO - 10.1093/hmg/ddx145

M3 - Article

VL - 26

SP - 2507

EP - 2514

JO - Human Molecular Genetics

JF - Human Molecular Genetics

SN - 0964-6906

IS - 13

ER -