Related references
Note: Only part of the references are listed.Congenital Central Hypothyroidism Caused by a Novel IGSF1 Variant Identified in a French Family
Rachel Fourneaux et al.
HORMONE RESEARCH IN PAEDIATRICS (2022)
Case Report: A Detailed Phenotypic Description of Patients and Relatives with Combined Central Hypothyroidism and Growth Hormone Deficiency Carrying IGSF1 Mutations
Melitza S. M. Elizabeth et al.
GENES (2022)
Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort
Nicolas Jullien et al.
CLINICAL ENDOCRINOLOGY (2021)
Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology
Paul van Trotsenburg et al.
THYROID (2021)
Clinical and genetic characteristics of Dutch children with central congenital hypothyroidism, early detected by neonatal screening
J. C. Naafs et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2020)
Genetics of Congenital Isolated TSH Deficiency: Mutation Screening of the Known Causative Genes and a Literature Review
Chiho Sugisawa et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2019)
Mutations in IRS4 are associated with central hypothyroidism
Charlotte A. Heinen et al.
JOURNAL OF MEDICAL GENETICS (2018)
Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes
Werner F. Blum et al.
EBIOMEDICINE (2018)
From Consternation to Revelation: Discovery of a Role for IGSF1 in Pituitary Control of Thyroid Function
Daniel J. Bernard et al.
JOURNAL OF THE ENDOCRINE SOCIETY (2018)
Molecular spectrum of TSHβ subunit gene defects in central hypothyroidism in the UK and Ireland
A. K. Nicholas et al.
CLINICAL ENDOCRINOLOGY (2017)
Central Hypothyroidism Due to a TRHR Mutation Causing Impaired Ligand Affinity and Transactivation of Gq
Marta Garcia et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2017)
Molecular architecture underlying fluid absorption by the developing inner ear
Keiji Honda et al.
eLife (2017)
The multiple genetic causes of central hypothyroidism
Luca Persani et al.
BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM (2017)
Mutations in TBL1X Are Associated With Central Hypothyroidism
Charlotte A. Heinen et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2016)
A Novel Thyrotropin-Releasing Hormone Receptor Missense Mutation (P81R) in Central Congenital Hypothyroidism
O. Koulouri et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2016)
IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management
S. D. Joustra et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2016)
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
Sue Richards et al.
GENETICS IN MEDICINE (2015)
The IGSF1 Deficiency Syndrome: Characteristics of Male and Female Patients
S. D. Joustra et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2013)
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement
Yu Sun et al.
NATURE GENETICS (2012)
Genetics of GHRH, GHRH-receptor, GH and GH-receptor: Its impact on pharmacogenetics
Primus-E. Mullis
BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM (2011)
Two Novel Mutations of the TSH-β Subunit Gene Underlying Congenital Central Hypothyroidism Undetectable in Neonatal TSH Screening
Maria Sonia Baquedano et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)
Expanding the Spectrum of Mutations in GH1 and GHRHR: Genetic Screening in a Large Cohort of Patients with Congenital Isolated Growth Hormone Deficiency
Kyriaki S. Alatzoglou et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)
Isolated autosomal dominant growth hormone deficiency:: An evolving pituitary deficit?: A multicenter follow-up study
PE Mullis et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2005)
Autosomal dominant growth hormone deficiency disrupts secretory vesicles in vitro and in vivo in transgenic mice
L McGuinness et al.
ENDOCRINOLOGY (2003)
Share Paper
