Low IGF-I Bioavailability Impairs Growth and Glucose Metabolism in a Mouse Model of Human PAPPA2 p.Ala1033Val Mutation.
Fujimoto, M; Andrew, M; Liao, L; Zhang, D; Yildirim, G; Sluss, P; Kalra, B; Kumar, A; Yakar, S; Hwa, V; et al.
Endocrinology.
2019;
160:1363-1376.
Laron syndrome related to homozygous growth hormone receptor c.784 > C mutation in a patient with hypoplastic pulmonary arteries.
Akinci, A; Karakurt, C; Hwa, V; Dundar, I; Camtosun, E.
South African Medical Journal.
2019;
30:e7-e8.
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
Diets, IJ; van der Donk, R; Baltrunaite, K; Waanders, E; Reijnders, MR F; Dingemans, AJ M; Pfundt, R; Vulto-van Silfhout, AT; Wiel, L; Gilissen, C; et al.
The American Journal of Human Genetics.
2019;
104:758-766.
Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action.
Storr, HL; Chatterjee, S; Metherell, LA; Foley, C; Rosenfeld, RG; Backeljauw, PF; Dauber, A; Savage, MO; Hwa, V.
Endocrine Reviews.
2019;
40:476-505.
A Novel Homozygous Mutation of the Acid-Labile Subunit (IGFALS) Gene in a Male Adolescent.
Poyrazoglu, S; Hwa, V; Bas, F; Dauber, A; Rosenfeld, R; Darendeliler, F.
JCRPE Journal of Clinical Research in Pediatric Endocrinology.
2019;
0:0-0.
Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions.
Heyn, P; Logan, CV; Fluteau, A; Challis, RC; Auchynnikava, T; Martin, C; Marsh, JA; Taglini, F; Kilanowski, F; Parry, DA; et al.
Nature Genetics.
2019;
51:96-105.
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.
Klammt, J; Neumann, D; Gevers, EF; Andrew, SF; Schwartz, ID; Rockstroh, D; Colombo, R; Sanchez, MA; Vokurkova, D; Kowalczyk, J; et al.
Nature Communications.
2018;
9.
PAPPA2 as a Therapeutic Modulator of IGF-I Bioavailability: in Vivo and in Vitro Evidence.
Andrew, M; Liao, L; Fujimoto, M; Khoury, J; Hwa, V; Dauber, A.
Journal of the Endocrine Society.
2018;
2:646-656.
Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1.
Kim, A; Fujimoto, M; Hwa, V; Backeljauw, P; Dauber, A.
Hormone Research in Paediatrics: from developmental endocrinology to clinical research.
2018;
89:205-210.
Novel Modulators of the Growth Hormone - Insulin-Like Growth Factor Axis: Pregnancy-Associated Plasma Protein-A2 and Stanniocalcin-2.
Fujimoto, M; Hwa, V; Dauber, A.
JCRPE Journal of Clinical Research in Pediatric Endocrinology.
2017;
9:1-8.