Search details
1.
Development and validation of a computable phenotype for Turner syndrome utilizing electronic health records from a national pediatric network.
Am J Med Genet A
; 194(4): e63495, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38066696
2.
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.
Am J Hum Genet
; 106(1): 121-128, 2020 01 02.
Article
in English
| MEDLINE | ID: mdl-31883643
3.
Hepatic abnormalities in youth with Turner syndrome.
Liver Int
; 42(10): 2237-2246, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35785515
4.
A View from the past into our collective future: the oncofertility consortium vision statement.
J Assist Reprod Genet
; 38(1): 3-15, 2021 Jan.
Article
in English
| MEDLINE | ID: mdl-33405006
5.
PRACTICE VARIATION IN THE MANAGEMENT OF GIRLS AND BOYS WITH DELAYED PUBERTY.
Endocr Pract
; 26(3): 267-284, 2020 Mar.
Article
in English
| MEDLINE | ID: mdl-31859552
6.
Gender destinies: assigning gender in Disorders of Sex Development-Intersex clinics.
Sociol Health Illn
; 41(8): 1520-1534, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31225650
7.
Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency.
Am J Med Genet C Semin Med Genet
; 175(2): 260-267, 2017 06.
Article
in English
| MEDLINE | ID: mdl-28544750
8.
Gender-Diverse Youth with Turner Syndrome: Special Management Considerations.
JCEM Case Rep
; 2(5): luae076, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38707656
9.
Development and Validation of a Computable Phenotype for Turner Syndrome Utilizing Electronic Health Records from a National Pediatric Network.
medRxiv
; 2023 Jul 23.
Article
in English
| MEDLINE | ID: mdl-37502850
10.
Crinecerfont, a CRF1 Receptor Antagonist, Lowers Adrenal Androgens in Adolescents With Congenital Adrenal Hyperplasia.
J Clin Endocrinol Metab
; 108(11): 2871-2878, 2023 10 18.
Article
in English
| MEDLINE | ID: mdl-37216921
11.
Correlation of TSH with the risk of paediatric thyroid carcinoma.
Clin Endocrinol (Oxf)
; 77(2): 316-22, 2012 Aug.
Article
in English
| MEDLINE | ID: mdl-22404106
12.
Ambiguous genitalia: what prenatal genetic testing is practical?
Am J Med Genet A
; 158A(6): 1337-43, 2012 Jun.
Article
in English
| MEDLINE | ID: mdl-22581420
13.
Evaluation and management of disorders of sex development: multidisciplinary approach to a complex diagnosis.
Radiographics
; 32(6): 1599-618, 2012 Oct.
Article
in English
| MEDLINE | ID: mdl-23065160
14.
Fertility in Individuals with Differences in Sex Development: Provider Knowledge Assessment.
J Pediatr Adolesc Gynecol
; 35(5): 558-561, 2022 Oct.
Article
in English
| MEDLINE | ID: mdl-35296452
15.
Crinecerfont Lowers Elevated Hormone Markers in Adults With 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia.
J Clin Endocrinol Metab
; 107(3): 801-812, 2022 02 17.
Article
in English
| MEDLINE | ID: mdl-34653252
16.
Digital photography in the evaluation and management of female patients with congenital adrenal hyperplasia: A standardized protocol for quality improvement.
J Pediatr Urol
; 18(6): 766-772, 2022 12.
Article
in English
| MEDLINE | ID: mdl-35537986
17.
Integration of child life services in the delivery of multi-disciplinary differences in Sexual Development (DSD) and Congenital Adrenal Hyperplasia (CAH) care.
J Pediatr Urol
; 18(5): 612.e1-612.e6, 2022 Oct.
Article
in English
| MEDLINE | ID: mdl-36031554
18.
Prevention of Growth Failure in Turner Syndrome: Long-Term Results of Early Growth Hormone Treatment in the "Toddler Turner" Cohort.
Horm Res Paediatr
; 94(1-2): 18-35, 2021.
Article
in English
| MEDLINE | ID: mdl-34111870
19.
Cushing's syndrome secondary to isolated micronodular adrenocortical disease (iMAD) associated with rapid onset weight gain and negative abdominal MRI findings in a 3 year old male.
J Pediatr Endocrinol Metab
; 23(6): 613-20, 2010 Jun.
Article
in English
| MEDLINE | ID: mdl-20662336
20.
A non-surgical approach to 46,XY differences in sex development through hormonal suppression at puberty: a single-center case series study.
Endocrine
; 70(1): 170-177, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32643049