Growth Hormone Receptor (Ghr) 6ω Pseudoexon Activation: A Novel Cause Of Severe Growth Hormone Insensitivity (Ghi).
Cottrell, E; Maharaj, A; Williams, J; Chatterjee, S; Cirillo, G; Miraglia Del Giudice, E; Festa, A; Palumbo, S; Capalbo, D; Salerno, M; et al.
Journal of Clinical Endocrinology and Metabolism.
2021.
Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: a Novel Cause of Severe Growth Hormone Insensitivity.
Cottrell, E; Maharaj, A; Williams, J; Chatterjee, S; Cirillo, G; Miraglia Del Giudice, E; Festa, A; Palumbo, S; Capalbo, D; Salerno, M; et al.
Journal of Clinical Endocrinology and Metabolism.
2021.
A rare heterozygous IGFI variant causing postnatal growth failure and offering novel insights into IGF-I physiology.
Cottrell, E; Chatterjee, S; Hwa, V; Storr, HL.
2021.
Genetic causes of growth hormone insensitivity beyond GHR.
Hwa, V; Fujimoto, M; Zhu, G; Gao, W; Foley, C; Kumbaji, M; Rosenfeld, RG.
Reviews in Endocrine and Metabolic Disorders.
2021;
22:43-58.
Developmental Adaptive Immune Defects Associated with STAT5B Deficiency in Three Young Siblings.
Foley, CL; Al Remeithi, SS; Towe, CT; Dauber, A; Backeljauw, PF; Tyzinski, L; Kumar, AR; Hwa, V.
Journal of Clinical Immunology.
2021;
41:136-146.
Human growth disorders associated with impaired GH action: Defects in STAT5B and JAK2.
Hwa, V.
Molecular and Cellular Endocrinology.
2021;
519.
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.
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.
2020;
93:322-334.
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.