List of works - Justin H Davies

Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans

scientific article published on 01 April 2021

Analysis of 17 α-hydroxyprogesterone in bloodspots by liquid chromatography tandem mass spectrometry.

scientific article published on 19 May 2014

Approach to the Child with Hypercalcaemia.

scientific article published on 12 June 2015

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

scientific article published on 16 January 2017

Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children With Hajdu-Cheney Syndrome

scientific article published on 8 September 2017

Bone mass acquisition in healthy children.

scientific article

Children with nephrotic syndrome have greater bone area but similar volumetric bone mineral density to healthy controls

scientific article published on 18 October 2013

Clinical features, diagnosis and molecular studies of familial central diabetes insipidus.

scientific article published on 27 October 2005

Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.

scientific article published on 15 August 2016

Delivering early care in diabetes evaluation (DECIDE): a protocol for a randomised controlled trial to assess hospital versus home management at diagnosis in childhood diabetes

scientific article

Diagnosis and management of Silver-Russell syndrome: first international consensus statement

scientific article

Differences in childhood adiposity influence upper limb fracture site

scientific article published on 29 May 2015

Early pontocerebellar hypoplasia with vanishing testes: A new syndrome? ⬇️

scientific article published on March 15, 2011

Effectiveness of home or hospital initiation of treatment at diagnosis for children with type 1 diabetes (DECIDE trial): a multicentre individually randomised controlled trial

scientific article published on 03 December 2019

Elemental formula associated hypophosphataemic rickets

article

Embedding electronic growth charts into clinical practice at a children's hospital

scientific article published on 9 October 2017

Energy expenditure, nutrition and growth.

scientific article published on 20 July 2010

Epidemiology of Vitamin D Deficiency in Children Presenting to a Pediatric Orthopaedic Service in the UK ⬇️

scientific article published on October 1, 2011

Evaluation of terminology used to describe disorders of sex development

scientific article published on 14 August 2010

From idiopathic diabetes insipidus to neurodegenerative Langerhans cell histiocytosis – an unusual presentation and progression of disease ⬇️

scientific article published on January 1, 2011

Further defining the phenotypic spectrum of B4GALT7 mutations

scientific article published on 04 March 2016

Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0560

scientific article published on 01 February 2006

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6

scientific article published on 29 December 2011

Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK

scientific article published on 11 May 2021

Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome

scientific article published on 01 January 2018

Growth monitoring following traumatic brain injury.

scientific article

Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism.

scientific article published on 20 December 2012

How close is the dose? Manipulation of 10 mg hydrocortisone tablets to provide appropriate doses to children

scientific article published on 26 April 2018

How to interpret a single cortisol measurement

scientific article published on 28 August 2020

Hydrocortisone muco-adhesive buccal tablets continue to be used for the treatment of adrenal insufficiency in children in the UK

scientific article published on 17 November 2020

Iatrogenic injury in childhood staphylococcal scalded skin syndrome.

scientific article published in January 2003

Identifying targets to reduce the incidence of diabetic ketoacidosis at diagnosis of type 1 diabetes in the UK.

scientific article published on 06 January 2014

Idiopathic gonadotropin-independent precocious puberty - is regular surveillance required?

scientific article published on 01 April 2019

In vitro effects of combination chemotherapy on osteoblasts: implications for osteopenia in childhood malignancy.

scientific article published in August 2002

Increased Adiposity and Altered Adipocyte Function in Female Survivors of Childhood Acute Lymphoblastic Leukaemia Treated without Cranial Radiation ⬇️

scientific article published on 05 April 2011

Infantile McCune-Albright syndrome

scientific article published on 01 November 2001

Investigation and management of hypercalcaemia in children.

scientific article published on 23 March 2012

Investigation and management of short stature.

scientific article published on 05 March 2014

Investigation and management of tall stature.

scientific article published on 15 May 2014

Lived experience of Silver-Russell syndrome: implications for management during childhood and into adulthood

scientific article published on 28 June 2018

Longitudinal changes in lean mass predict pQCT measures of tibial geometry and mineralisation at 6-7 years.

scientific article

Management of Gonads in Adults with Androgen Insensitivity: An International Survey

scientific article published on 18 October 2018

Massive ovarian oedema: an unusual abdominal mass in infancy.

scientific article published on August 2009

Maternal antenatal vitamin D status and offspring muscle development: findings from the Southampton Women's Survey

scientific article published on 20 December 2013

Methods for determining pubertal status in research studies: literature review and opinions of experts and adolescents

scientific article published on 17 June 2019

Novel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight Gain ⬇️

scientific article published on January 4, 2012

Osteonecrosis following treatment for childhood acute lymphoblastic leukaemia: The Southampton Children's Hospital experience.

scientific article published in December 2017

Pituitary function at long-term follow-up of childhood traumatic brain injury.

scientific article published on 06 October 2010

Preventable but no strategy: vitamin D deficiency in the UK

scientific article published on 23 July 2010

Priapism in teenage boys following depot testosterone

scientific article published on 01 January 2012

Radiographic long bone appearance in a child administered cyclical pamidronate ⬇️

scientific article published on October 1, 2003

Recognition and assessment of atypical and ambiguous genitalia in the newborn.

scientific article

Reduced cortical bone density with normal trabecular bone density in girls with Turner syndrome.

scientific article published on 5 February 2010

Seasonal variation in Internet searches for vitamin D.

scientific article published on 10 March 2017

Selective reduction in trabecular volumetric bone mineral density during treatment for childhood acute lymphoblastic leukemia.

scientific article published on 05 July 2012

Skeletal morbidity in childhood acute lymphoblastic leukaemia.

scientific article

Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases

scientific article published on 02 June 2014

The current status of senior house officer postgraduate education in a single region

scientific article published on 01 May 2000

The importance of re-evaluation, re-investigation and follow-up of adrenal insufficiency

scientific article published on 01 August 2007

Tracking of 25-hydroxyvitamin D status during pregnancy: the importance of vitamin D supplementation

scientific article

Validity of parental recall of children's fracture: implications for investigation of childhood osteoporosis.

scientific article published on 19 August 2015

Vitamin D and bone development

article

Vitamin D and skeletal health in infancy and childhood.

scientific article

Vitamin D supplementation: are multivitamins sufficient?

scientific article published on 25 February 2019

Vitamin D, and Maternal and Child Health

scientific article published on 14 May 2019

List of works by Justin H Davies

Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans

Analysis of 17 α-hydroxyprogesterone in bloodspots by liquid chromatography tandem mass spectrometry.

Approach to the Child with Hypercalcaemia.

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children With Hajdu-Cheney Syndrome

Bone mass acquisition in healthy children.

Children with nephrotic syndrome have greater bone area but similar volumetric bone mineral density to healthy controls

Clinical features, diagnosis and molecular studies of familial central diabetes insipidus.

Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.

Delivering early care in diabetes evaluation (DECIDE): a protocol for a randomised controlled trial to assess hospital versus home management at diagnosis in childhood diabetes

Diagnosis and management of Silver-Russell syndrome: first international consensus statement

Differences in childhood adiposity influence upper limb fracture site

Early pontocerebellar hypoplasia with vanishing testes: A new syndrome? ⬇️

Effectiveness of home or hospital initiation of treatment at diagnosis for children with type 1 diabetes (DECIDE trial): a multicentre individually randomised controlled trial

Elemental formula associated hypophosphataemic rickets

Embedding electronic growth charts into clinical practice at a children's hospital

Energy expenditure, nutrition and growth.

Epidemiology of Vitamin D Deficiency in Children Presenting to a Pediatric Orthopaedic Service in the UK ⬇️

Evaluation of terminology used to describe disorders of sex development

From idiopathic diabetes insipidus to neurodegenerative Langerhans cell histiocytosis – an unusual presentation and progression of disease ⬇️

Further defining the phenotypic spectrum of B4GALT7 mutations

Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0560

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6

Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK

Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome

Growth monitoring following traumatic brain injury.

Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism.

How close is the dose? Manipulation of 10 mg hydrocortisone tablets to provide appropriate doses to children

How to interpret a single cortisol measurement

Hydrocortisone muco-adhesive buccal tablets continue to be used for the treatment of adrenal insufficiency in children in the UK

Iatrogenic injury in childhood staphylococcal scalded skin syndrome.

Identifying targets to reduce the incidence of diabetic ketoacidosis at diagnosis of type 1 diabetes in the UK.

Idiopathic gonadotropin-independent precocious puberty - is regular surveillance required?

In vitro effects of combination chemotherapy on osteoblasts: implications for osteopenia in childhood malignancy.

Increased Adiposity and Altered Adipocyte Function in Female Survivors of Childhood Acute Lymphoblastic Leukaemia Treated without Cranial Radiation ⬇️

Infantile McCune-Albright syndrome

Investigation and management of hypercalcaemia in children.

Investigation and management of short stature.

Investigation and management of tall stature.

Lived experience of Silver-Russell syndrome: implications for management during childhood and into adulthood

Longitudinal changes in lean mass predict pQCT measures of tibial geometry and mineralisation at 6-7 years.

Management of Gonads in Adults with Androgen Insensitivity: An International Survey

Massive ovarian oedema: an unusual abdominal mass in infancy.

Maternal antenatal vitamin D status and offspring muscle development: findings from the Southampton Women's Survey

Methods for determining pubertal status in research studies: literature review and opinions of experts and adolescents

Novel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight Gain ⬇️

Osteonecrosis following treatment for childhood acute lymphoblastic leukaemia: The Southampton Children's Hospital experience.

Pituitary function at long-term follow-up of childhood traumatic brain injury.

Preventable but no strategy: vitamin D deficiency in the UK

Priapism in teenage boys following depot testosterone

Radiographic long bone appearance in a child administered cyclical pamidronate ⬇️

Recognition and assessment of atypical and ambiguous genitalia in the newborn.

Reduced cortical bone density with normal trabecular bone density in girls with Turner syndrome.

Seasonal variation in Internet searches for vitamin D.

Selective reduction in trabecular volumetric bone mineral density during treatment for childhood acute lymphoblastic leukemia.

Skeletal morbidity in childhood acute lymphoblastic leukaemia.

Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases

The current status of senior house officer postgraduate education in a single region

The importance of re-evaluation, re-investigation and follow-up of adrenal insufficiency

Tracking of 25-hydroxyvitamin D status during pregnancy: the importance of vitamin D supplementation

Validity of parental recall of children's fracture: implications for investigation of childhood osteoporosis.

Vitamin D and bone development

Vitamin D and skeletal health in infancy and childhood.

Vitamin D supplementation: are multivitamins sufficient?

Vitamin D, and Maternal and Child Health

How close is the dose? Manipulation of 10 mg hydrocortisone tablets to provide appropriate doses to children