Search details
1.
Combined effects of weight change trajectories and eating behaviors on childhood adiposity status: A birth cohort study.
Appetite
; 162: 105174, 2021 07 01.
Article
in English
| MEDLINE | ID: mdl-33636216
2.
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.
Brain
; 142(11): 3382-3397, 2019 11 01.
Article
in English
| MEDLINE | ID: mdl-31637422
3.
Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.
Am J Hum Genet
; 98(2): 363-72, 2016 Feb 04.
Article
in English
| MEDLINE | ID: mdl-26833329
4.
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.
J Med Genet
; 53(9): 634-41, 2016 09.
Article
in English
| MEDLINE | ID: mdl-27091925
5.
Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.
Am J Hum Genet
; 92(1): 131-6, 2013 Jan 10.
Article
in English
| MEDLINE | ID: mdl-23273570
6.
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.
Am J Hum Genet
; 92(4): 605-13, 2013 Apr 04.
Article
in English
| MEDLINE | ID: mdl-23541340
7.
Metabolites involved in glycolysis and amino acid metabolism are altered in short children born small for gestational age.
Pediatr Res
; 80(2): 299-305, 2016 08.
Article
in English
| MEDLINE | ID: mdl-27057740
8.
Increased plasma incretin concentrations identifies a subset of patients with persistent congenital hyperinsulinism without KATP channel gene defects.
J Pediatr
; 166(1): 191-4, 2015 Jan.
Article
in English
| MEDLINE | ID: mdl-25444530
9.
Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth.
Am J Hum Genet
; 89(1): 148-53, 2011 Jul 15.
Article
in English
| MEDLINE | ID: mdl-21737058
10.
Identification of mutations in CUL7 in 3-M syndrome.
Nat Genet
; 37(10): 1119-24, 2005 Oct.
Article
in English
| MEDLINE | ID: mdl-16142236
11.
Endocrine control of growth.
Am J Med Genet C Semin Med Genet
; 163C(2): 76-85, 2013 May.
Article
in English
| MEDLINE | ID: mdl-23613426
12.
The challenge of delivering endocrine care and successful transition to adult services in adolescents with congenital adrenal hyperplasia: experience in a single centre over 18 years.
Clin Endocrinol (Oxf)
; 78(1): 23-8, 2013 Jan.
Article
in English
| MEDLINE | ID: mdl-23009615
13.
Transition in endocrinology: the challenge of maintaining continuity.
Clin Endocrinol (Oxf)
; 78(1): 29-35, 2013 Jan.
Article
in English
| MEDLINE | ID: mdl-22734661
14.
Growth hormone receptor polymorphism and growth hormone therapy response in children: a Bayesian meta-analysis.
Am J Epidemiol
; 175(9): 867-77, 2012 May 01.
Article
in English
| MEDLINE | ID: mdl-22494952
15.
The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.
Am J Hum Genet
; 84(6): 801-6, 2009 Jun.
Article
in English
| MEDLINE | ID: mdl-19481195
16.
Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination.
Clin Endocrinol (Oxf)
; 77(3): 335-42, 2012 Sep.
Article
in English
| MEDLINE | ID: mdl-22624670
17.
Maternal malaria status and metabolic profiles in pregnancy and in cord blood: relationships with birth size in Nigerian infants.
Malar J
; 11: 75, 2012 Mar 19.
Article
in English
| MEDLINE | ID: mdl-22429464
18.
Role of ZBTB38 Genotype and Expression in Growth and Response to Recombinant Human Growth Hormone Treatment.
J Endocr Soc
; 6(3): bvac006, 2022 Mar 01.
Article
in English
| MEDLINE | ID: mdl-35178492
19.
Glucose uptake as an alternative to oxygen uptake for assessing metabolic rate in Danio rerio larvae.
Curr Res Physiol
; 5: 216-223, 2022.
Article
in English
| MEDLINE | ID: mdl-35637870
20.
Safety and Efficacy of Pediatric Growth Hormone Therapy: Results From the Full KIGS Cohort.
J Clin Endocrinol Metab
; 107(12): 3287-3301, 2022 11 25.
Article
in English
| MEDLINE | ID: mdl-36102184