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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.
Inspiring New Science to Guide Healthcare in Turner Syndrome: Rationale, design, and methods for the InsighTS Registry.
Am J Med Genet A
; 194(2): 311-319, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-37827984
3.
Hepatic abnormalities in youth with Turner syndrome.
Liver Int
; 42(10): 2237-2246, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35785515
4.
Cell-free DNA screening positive for monosomy X: clinical evaluation and management of suspected maternal or fetal Turner syndrome.
Am J Obstet Gynecol
; 227(6): 862-870, 2022 12.
Article
in English
| MEDLINE | ID: mdl-35841934
5.
The Turner syndrome research registry: Creating equipoise between investigators and participants.
Am J Med Genet C Semin Med Genet
; 181(1): 135-140, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30758128
6.
The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome.
Am J Med Genet A
; 176(10): 2167-2171, 2018 10.
Article
in English
| MEDLINE | ID: mdl-30380188
7.
LETTER TO THE EDITOR Re: First live birth after fertility preservation using vitrification of oocytes in a woman with mosaic Turner syndrome.
J Assist Reprod Genet
; 39(3): 777-778, 2022 03.
Article
in English
| MEDLINE | ID: mdl-35312935
8.
Turner Syndrome: Care of the Patient: Birth to Late Adolescence.
Pediatr Endocrinol Rev
; 14(Suppl 2): 454-461, 2017 Jun.
Article
in English
| MEDLINE | ID: mdl-28647950
9.
Turner syndrome: fertility counselling in childhood and through the reproductive lifespan.
Curr Opin Endocrinol Diabetes Obes
; 30(1): 16-26, 2023 02 01.
Article
in English
| MEDLINE | ID: mdl-36437755
10.
Deferring gonadectomy in patients with turner syndrome with a genetic Y component is not a safe practice.
J Pediatr Urol
; 19(3): 294.e1-294.e5, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36740540
11.
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
12.
A Pilot Randomized Clinical Trial of Intranasal Oxytocin to Promote Weight Loss in Individuals With Hypothalamic Obesity.
J Endocr Soc
; 7(5): bvad037, 2023 Mar 06.
Article
in English
| MEDLINE | ID: mdl-37153702
13.
Approach to the Patient: Safety of Growth Hormone Replacement in Children and Adolescents.
J Clin Endocrinol Metab
; 107(3): 847-861, 2022 02 17.
Article
in English
| MEDLINE | ID: mdl-34636896
14.
Genetic conditions of short stature: A review of three classic examples.
Front Endocrinol (Lausanne)
; 13: 1011960, 2022.
Article
in English
| MEDLINE | ID: mdl-36339399
15.
Case Studies in Pediatric Lipid Disorders and Their Management.
J Clin Endocrinol Metab
; 106(12): 3605-3620, 2021 11 19.
Article
in English
| MEDLINE | ID: mdl-34363474
16.
Histrelin Implantation and Growth Outcomes in Children With Congenital Adrenal Hyperplasia: An Institutional Experience.
J Endocr Soc
; 4(2): bvz004, 2020 Feb 01.
Article
in English
| MEDLINE | ID: mdl-32104750
17.
Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency.
Horm Res Paediatr
; 89(6): 413-422, 2018.
Article
in English
| MEDLINE | ID: mdl-29902804
18.
Treatment of Pre-pubertal Patients with Growth Hormone Deficiency: Patterns in Growth Hormone Dosage and Insulin-like Growth Factor-I Z-scores.
J Clin Res Pediatr Endocrinol
; 9(3): 208-215, 2017 Sep 01.
Article
in English
| MEDLINE | ID: mdl-28150584
19.
Increased Non-High-Density Lipoprotein Cholesterol in Children and Young Adults with Turner Syndrome Is Not Explained By BMI Alone.
Horm Res Paediatr
; 88(3-4): 208-214, 2017.
Article
in English
| MEDLINE | ID: mdl-28768282
20.
Long-acting Growth Hormone Therapy: A REAL3 Alternative to Daily Growth Hormone Treatment?
J Clin Endocrinol Metab
; 105(4)2020 04 01.
Article
in English
| MEDLINE | ID: mdl-32055832