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1.
Growth reference charts for children with hypochondroplasia.
Am J Med Genet A
; 194(2): 243-252, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-37814549
2.
Parental concerns about genital differences in children with congenital adrenal hyperplasia persist regardless of the selected intervention.
J Sex Med
; 21(5): 361-366, 2024 Apr 30.
Article
in English
| MEDLINE | ID: mdl-38481013
3.
Neurodevelopmental Abnormalities in Patients with Familial Hypocalciuric Hypercalcemia Type 3.
J Pediatr
; 257: 113367, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36868303
4.
Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021).
Clin Endocrinol (Oxf)
; 95(6): 818-840, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34031907
5.
A heterozygous microdeletion of 20p12.2-3 encompassing PROKR2 and BMP2 in a patient with congenital hypopituitarism and growth hormone deficiency.
Am J Med Genet A
; 173(8): 2261-2267, 2017 Aug.
Article
in English
| MEDLINE | ID: mdl-28586151
6.
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
7.
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
8.
Why do parents recommend clitoral surgery? Parental perception of the necessity, benefit, and cost of early childhood clitoral surgery for congenital adrenal hyperplasia (CAH).
Int J Impot Res
; 35(1): 56-60, 2023 Feb.
Article
in English
| MEDLINE | ID: mdl-35672389
9.
45 years' experience with early childhood anatomical technique of feminising genitoplasty for 46 XX Congenital Adrenal Hyperplasia -observations of vaginal introital anatomy and its relationship to the perineal body.
J Pediatr Urol
; 18(5): 611.e1-611.e8, 2022 Oct.
Article
in English
| MEDLINE | ID: mdl-35970739
10.
Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies.
Ther Adv Musculoskelet Dis
; 14: 1759720X221084848, 2022.
Article
in English
| MEDLINE | ID: mdl-35342457
11.
Endocrinopathies in Aicardi Goutières syndrome-A descriptive case series.
Clin Case Rep
; 8(11): 2181-2185, 2020 Nov.
Article
in English
| MEDLINE | ID: mdl-33235754
12.
Developing pathways to clarify pathogenicity of unclassified variants in Osteogenesis Imperfecta genetic analysis.
Mol Genet Genomic Med
; 7(12): e912, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31568717
13.
Central venous catheter-associated thrombosis in children with congenital hyperinsulinism
Endocrinol Diabetes Metab Case Rep
; 2019(1)2019 07 09.
Article
in English
| MEDLINE | ID: mdl-31373474
14.
A case of diencephalic syndrome presenting with isolated lipodystrophy.
Clin Dysmorphol
; 27(4): 122-125, 2018 Oct.
Article
in English
| MEDLINE | ID: mdl-29994870
15.
Retrospective review of Synacthen testing in infants.
Arch Dis Child
; 103(10): 984-986, 2018 10.
Article
in English
| MEDLINE | ID: mdl-29330170
16.
Clinical Diversity in Focal Congenital Hyperinsulinism in Infancy Correlates With Histological Heterogeneity of Islet Cell Lesions.
Front Endocrinol (Lausanne)
; 9: 619, 2018.
Article
in English
| MEDLINE | ID: mdl-30386300
17.
Letter: Patient-Guided Improvements for Pediatric Obesity Services.
J Obes Metab Syndr
; 31(2): 196-197, 2022 Jun 30.
Article
in English
| MEDLINE | ID: mdl-35718857
18.
Hormone supplementation for pubertal induction in girls.
Arch Dis Child
; 102(10): 975-980, 2017 10.
Article
in English
| MEDLINE | ID: mdl-28446424
19.
Vineland adaptive behavior scales to identify neurodevelopmental problems in children with Congenital Hyperinsulinism (CHI).
Orphanet J Rare Dis
; 12(1): 96, 2017 05 22.
Article
in English
| MEDLINE | ID: mdl-28532504
20.
Atypical Forms of Congenital Hyperinsulinism in Infancy Are Associated With Mosaic Patterns of Immature Islet Cells.
J Clin Endocrinol Metab
; 102(9): 3261-3267, 2017 09 01.
Article
in English
| MEDLINE | ID: mdl-28605545