Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity.
Cottrell, E; Cabrera, CP; Ishida, M; Chatterjee, S; Greening, J; Wright, N; Bossowski, A; Dunkel, L; Deeb, A; Basiri, IA; et al.
European Journal of Endocrinology.
2020;
183:581-595.
Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes.
Abell, K; Tolusso, L; Smith, N; Hopkin, R; Vawter-Lee, M; Habli, M; Riddle, S; Calvo-Garcia, MA; Guan, Q; Bierbrauer, K; et al.
Birth Defects Research.
2020;
112:1733-1737.
Severe growth failure associated with a novel heterozygous nonsense mutation in the GHR transmembrane domain leading to elevated growth hormone binding protein.
Rughani, A; Zhang, D; Vairamani, K; Dauber, A; Hwa, V; Krishnan, S.
Clinical Endocrinology.
2020;
92:331-337.
Anthropometric and biochemical correlates of PAPP-A2, free IGF-I, and IGFBP-3 in childhood.
Fujimoto, M; Khoury, JC; Khoury, PR; Kalra, B; Kumar, A; Sluss, P; Oxvig, C; Hwa, V; Dauber, A.
European Journal of Endocrinology.
2020;
182:363-374.
Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels.
Cabrera-Salcedo, C; Hawkes, CP; Tyzinski, L; Andrew, M; Labilloy, G; Campos, D; Feld, A; Deodati, A; Hwa, V; Hirschhorn, JN; et al.
Hormone Research in Paediatrics: from developmental endocrinology to clinical research.
2020;
92:186-195.
A Novel Mutation in Insulin-Like Growth Factor 1 Receptor (c.641-2A>G) Is Associated with Impaired Growth, Hypoglycemia, and Modified Immune Phenotypes.
Shapiro, MR; Foster, TP; Perry, DJ; Rosenfeld, RG; Dauber, A; McNichols, JA; Muir, A; Hwa, V; Brusko, TM; Jacobsen, LM.
Hormone Research in Paediatrics: from developmental endocrinology to clinical research.
2020;
93:322-334.
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;
11:432-438.
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.