Tashunka Taylor-Miller
Overview
Explore the profile of Tashunka Taylor-Miller including associated specialties, affiliations and a list of published articles.
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11
Citations
33
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Recent Articles
1.
Taylor-Miller T, Tucker K, Sugo E, Anazodo A, Mowat D
Pediatrics
. 2024 Aug;
154(3).
PMID: 39148481
Early onset medullary thyroid carcinoma, later pheochromocytomas, and nonspecific extra-endocrine features (hypermobility and persistent constipation) are part of the clinical phenotype of Multiple Endocrine Neoplasia type 2B (MEN2B). A de...
2.
Taylor-Miller T, Savarirayan R
Expert Rev Endocrinol Metab
. 2024 Aug;
19(6):479-486.
PMID: 39132812
Introduction: Achondroplasia is a heritable disorder of the skeleton that affects approximately 300,000 individuals worldwide. Until recently, treatment for this condition has been purely symptomatic. Efficacious treatment options for children...
3.
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene
Malbos M, Wakeling E, Gautier T, Boespflug-Tanguy O, Busby L, Taylor-Miller T, et al.
Clin Genet
. 2024 Jan;
105(5):555-560.
PMID: 38287449
Achaete-Scute Family basic-helix-loop-helix (bHLH) Transcription Factor 1 (ASCL1) is a proneural transcription factor involved in neuron development in the central and peripheral nervous system. While initially suspected to contribute to...
4.
Hinton E, Lithander F, Elsworth R, Hawton K, Narayan K, Szymkowiak S, et al.
Horm Res Paediatr
. 2023 May;
97(1):80-93.
PMID: 37231854
Introduction: Craniopharyngiomas are rare brain tumours (incidence 1.1-1.7 cases/million/year). Although non-malignant, craniopharyngioma causes major endocrine and visual morbidities including hypothalamic obesity, yet mechanisms leading to obesity are poorly understood. This...
5.
Marom R, Burrage L, Venditti R, Clement A, Blanco-Sanchez B, Jain M, et al.
Am J Hum Genet
. 2021 Aug;
108(9):1710-1724.
PMID: 34450031
Coatomer complexes function in the sorting and trafficking of proteins between subcellular organelles. Pathogenic variants in coatomer subunits or associated factors have been reported in multi-systemic disorders, i.e., coatopathies, that...
6.
Taylor-Miller T, Allgrove J
Front Pediatr
. 2021 Feb;
9:600490.
PMID: 33614549
The physiology and regulation of bone minerals in the fetus and the newborn is significantly different from children and adults. The bone minerals calcium, phosphate and magnesium are all maintained...
7.
Taylor-Miller T, Sivaprakasam P, Smithson S, Steward C, Burren C
Bone Rep
. 2020 Dec;
14:100738.
PMID: 33364264
Case: This child with compound heterozygous novel loss-of-function pathogenic variants causing osteoclast-poor ARO underwent haematopoietic stem cell transplantation (HSCT) aged 3.1 years and experienced episodic severe hypercalcaemia over 2.5 years....
8.
Taylor-Miller T, Houghton J, Munyard P, Kumar Y, Puvirajasinghe C, Giri D
J Pediatr Endocrinol Metab
. 2020 Apr;
33(5):671-674.
PMID: 32267248
Background Congenital hyperinsulinism (CHI), a condition characterized by dysregulation of insulin secretion from the pancreatic β cells, remains one of the most common causes of hyperinsulinemic, hypoketotic hypoglycemia in the...
9.
Zhou L, Taylor-Miller T, Zacharin M, Efron D
J Paediatr Child Health
. 2018 Jul;
55(1):104-106.
PMID: 30024081
No abstract available.
10.
Taylor-Miller T, Simm P
Aust Fam Physician
. 2018 Feb;
46(12):913-917.
PMID: 29464228
Background: Growth is one of the fundamental processes of adolescent development. Careful history and examination, and relevant tar-geted investigations, can streamline the referral process, highlighting the important role of primary...