Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC 16A2 mutations
Published 2019 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with
SLC
16A2
mutations
Authors
Keywords
-
Journal
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2019-08-14
DOI
10.1111/dmcn.14332
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome
- (2017) Francesca Novara et al. HUMAN MUTATION
- Triiodothyroacetic acid in health and disease
- (2017) Stefan Groeneweg et al. JOURNAL OF ENDOCRINOLOGY
- Novel A178P mutation in SLC16A2 in a patient with Allan-Herndon-Dudley syndrome
- (2017) Toshiyuki Yamamoto et al. CONGENITAL ANOMALIES
- Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology
- (2016) A. Charzewska et al. CLINICAL GENETICS
- Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss
- (2015) Lucia Gagliardi et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- A 7-month-old male with Allan-Herndon-Dudley syndrome and the power of T3
- (2015) Katherine G. Langley et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Clinical and Endocrine Features of Two Allan-Herndon-Dudley Syndrome Patients with Monocarboxylate Transporter 8 Mutations
- (2015) Ja Hye Kim et al. Hormone Research in Paediatrics
- Mosaic dominantTUBB4Amutation in an inbred family with complicated hereditary spastic paraplegia
- (2015) Dahlia Kancheva et al. MOVEMENT DISORDERS
- Thyroid hormone transporters—functions and clinical implications
- (2015) Juan Bernal et al. Nature Reviews Endocrinology
- Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation
- (2015) Christine M. Armour et al. PLoS One
- Deletion of Exon 1 of theSLC16A2Gene: A Common Occurrence in Patients with Allan-Herndon-Dudley Syndrome
- (2015) Benilde García-de Teresa et al. THYROID
- Hypotonic male infant and MCT8 deficiency - a diagnosis to think about
- (2014) Filipa Rodrigues et al. BMC Pediatrics
- Psychomotor Retardation Caused by a Defective Thyroid Hormone Transporter: Report of Two Families with Different MCT8 Mutations
- (2014) Ahmet Anık et al. Hormone Research in Paediatrics
- Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene
- (2014) Roberta La Piana et al. JOURNAL OF CHILD NEUROLOGY
- Mutations of the Thyroid Hormone Transporter MCT8 Cause Prenatal Brain Damage and Persistent Hypomyelination
- (2014) Daniela López-Espíndola et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes
- (2014) Anju K Philips et al. Orphanet Journal of Rare Diseases
- Clinical Course and Images of Four Familial Cases of Allan-Herndon-Dudley Syndrome With a Novel Monocarboxylate Transporter 8 Gene Mutation
- (2014) Satoru Kobayashi et al. PEDIATRIC NEUROLOGY
- Delayed myelination is not a constant feature of Allan–Herndon–Dudley syndrome: Report of a new case and review of the literature
- (2013) Sara Azzolini et al. BRAIN & DEVELOPMENT
- Allan–Herndon–Dudley syndrome (AHDS) in two consecutive generations caused by a missense MCT8 gene mutation. Phenotypic variability with the presence of normal serum T3 levels
- (2013) Loredana Boccone et al. European Journal of Medical Genetics
- Relevance of Different Cellular Models in Determining the Effects of Mutations on SLC16A2/MCT8 Thyroid Hormone Transporter Function and Genotype-Phenotype Correlation
- (2013) Yline Capri et al. HUMAN MUTATION
- Identification, functional analysis, prevalence and treatment of monocarboxylate transporter 8 (MCT8) mutations in a cohort of adult patients with mental retardation
- (2012) W. Edward Visser et al. CLINICAL ENDOCRINOLOGY
- MCT8 Deficiency
- (2012) Davide Tonduti et al. JOURNAL OF CHILD NEUROLOGY
- Diiodothyropropionic Acid (DITPA) in the Treatment of MCT8 Deficiency
- (2012) Charles F. Verge et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Novel mutation in MCT8 gene in a Brazilian boy with thyroid hormone resistance and severe neurologic abnormalities
- (2011) Hamilton Cabral de Menezes Filho et al. Arquivos Brasileiros de Endocrinologia e Metabologia
- Monocarboxylate transporter 8 deficiency: altered thyroid morphology and persistent high triiodothyronine/thyroxine ratio after thyroidectomy
- (2011) Eva K Wirth et al. EUROPEAN JOURNAL OF ENDOCRINOLOGY
- A child with a deletion in the monocarboxylate transporter 8 gene: 7-year follow-up and effects of thyroid hormone treatment
- (2011) Amnon Zung et al. EUROPEAN JOURNAL OF ENDOCRINOLOGY
- Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing
- (2011) Y. Tsurusaki et al. JOURNAL OF MEDICAL GENETICS
- Allan–Herndon–Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH
- (2010) Loredana Boccone et al. European Journal of Medical Genetics
- Genetics and phenomics of thyroid hormone transport by MCT8
- (2010) Edith C.H. Friesema et al. MOLECULAR AND CELLULAR ENDOCRINOLOGY
- Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects
- (2009) Catherine Vaurs-Barrière et al. ANNALS OF NEUROLOGY
- Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutation
- (2009) OLIVER FUCHS et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene
- (2009) ARTEMIS D GIKA et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Elevated TSH levels in a mentally retarded boy
- (2009) Ellen Crushell et al. EUROPEAN JOURNAL OF PEDIATRICS
- Genotype-Phenotype Relationship in Patients with Mutations in Thyroid Hormone Transporter MCT8
- (2008) Jurgen Jansen et al. ENDOCRINOLOGY
- MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression
- (2008) Suzanna Gerarda Maria Frints et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations
- (2008) W. Edward Visser et al. HUMAN MUTATION
- 1H Magnetic Resonance Spectroscopy in Monocarboxylate Transporter 8 Gene Deficiency
- (2008) Paul E. Sijens et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Beneficial Effects of Propylthiouracil plusl-Thyroxine Treatment in a Patient with a Mutation inMCT8
- (2008) J. L. Wémeau et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- A Novel Monocarboxylate Transporter 8 Gene Mutation as a Cause of Severe Neonatal Hypotonia and Developmental Delay
- (2008) A. Papadimitriou et al. PEDIATRICS
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now