Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions
Heyn, Patricia, Logan, Clare V, Fluteau, Adeline, Challis, Rachel C, Auchynnikava, Tatsiana, Martin, Carol-Anne, Marsh, Joseph A, Taglini, Francesca, Kilanowski, Fiona, Parry, David A, Cormier-Daire, Valerie, Fong, Chin-To, Gibson, Kate, Hwa, Vivian, Ibáñez, Lourdes, Robertson, Stephen P, Sebastiani, Giorgia, Rappsilber, Juri, Allshire, Robin C, Reijns, Martin A M, Dauber, Andrew, Sproul, Duncan, Jackson, Andrew P
Published in Nature genetics (01.01.2019)
Published in Nature genetics (01.01.2019)
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Journal Article
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation
Klammt, Jürgen, Neumann, David, Gevers, Evelien F, Andrew, Shayne F, Schwartz, I David, Rockstroh, Denise, Colombo, Roberto, Sanchez, Marco A, Vokurkova, Doris, Kowalczyk, Julia, Metherell, Louise A, Rosenfeld, Ron G, Pfäffle, Roland, Dattani, Mehul T, Dauber, Andrew, Hwa, Vivian
Published in Nature communications (29.05.2018)
Published in Nature communications (29.05.2018)
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Journal Article
Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action
Storr, Helen L, Chatterjee, Sumana, Metherell, Louise A, Foley, Corinne, Rosenfeld, Ron G, Backeljauw, Philippe F, Dauber, Andrew, Savage, Martin O, Hwa, Vivian
Published in Endocrine reviews (01.04.2019)
Published in Endocrine reviews (01.04.2019)
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Journal Article
Pharmacokinetics of IGF-1 in PAPP-A2-Deficient Patients, Growth Response, and Effects on Glucose and Bone Density
Cabrera-Salcedo, Catalina, Mizuno, Tomoyuki, Tyzinski, Leah, Andrew, Melissa, Vinks, Alexander A, Frystyk, Jan, Wasserman, Halley, Gordon, Catherine M, Hwa, Vivian, Backeljauw, Philippe, Dauber, Andrew
Published in The journal of clinical endocrinology and metabolism (01.12.2017)
Published in The journal of clinical endocrinology and metabolism (01.12.2017)
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Journal Article
Genetic causes of growth hormone insensitivity beyond GHR
Hwa, Vivian, Fujimoto, Masanobu, Zhu, Gaohui, Gao, Wen, Foley, Corinne, Kumbaji, Meenasri, Rosenfeld, Ron G.
Published in Reviews in endocrine & metabolic disorders (01.03.2021)
Published in Reviews in endocrine & metabolic disorders (01.03.2021)
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Journal Article
Low IGF-I Bioavailability Impairs Growth and Glucose Metabolism in a Mouse Model of Human PAPPA2 p.Ala1033Val Mutation
Fujimoto, Masanobu, Andrew, Melissa, Liao, Lihong, Zhang, Dongsheng, Yildirim, Gozde, Sluss, Patrick, Kalra, Bhanu, Kumar, Ajay, Yakar, Shoshana, Hwa, Vivian, Dauber, Andrew
Published in Endocrinology (Philadelphia) (01.06.2019)
Published in Endocrinology (Philadelphia) (01.06.2019)
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Journal Article
A Novel Homozygous Mutation of the Acid-Labile Subunit (IGFALS) Gene in a Male Adolescent
Poyrazoğlu, Şükran, Hwa, Vivian, Baş, Firdevs, Dauber, Andrew, Rosenfeld, Ron, Darendeliler, Feyza
Published in Journal of clinical research in pediatric endocrinology (01.12.2019)
Published in Journal of clinical research in pediatric endocrinology (01.12.2019)
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Journal Article
Severe Short Stature Caused by Novel Compound Heterozygous Mutations of the Insulin-Like Growth Factor 1 Receptor (IGF1R)
Fang, Peng, Hi Cho, Yoon, Derr, Michael A, Rosenfeld, Ron G, Hwa, Vivian, Cowell, Christopher T
Published in The journal of clinical endocrinology and metabolism (01.02.2012)
Published in The journal of clinical endocrinology and metabolism (01.02.2012)
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Journal Article
Severe Short Stature in Two Siblings as the Presenting Sign of ACP5 Deficiency
de Bruin, Christiaan, Orbak, Zerrin, Andrew, Melissa, Hwa, Vivian, Dauber, Andrew
Published in Hormone research in paediatrics (01.01.2016)
Published in Hormone research in paediatrics (01.01.2016)
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Journal Article
IGFALS Gene Dosage Effects on Serum IGF-I and Glucose Metabolism, Body Composition, Bone Growth in Length and Width, and the Pharmacokinetics of Recombinant Human IGF-I Administration
Högler, Wolfgang, Martin, David D, Crabtree, Nicola, Nightingale, Peter, Tomlinson, Jeremy, Metherell, Lou, Rosenfeld, Ron, Hwa, Vivian, Rose, Stephen, Walker, Joanna, Shaw, Nicholas, Barrett, Timothy, Frystyk, Jan
Published in The journal of clinical endocrinology and metabolism (01.04.2014)
Published in The journal of clinical endocrinology and metabolism (01.04.2014)
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Journal Article
Familial Short Stature Caused by Haploinsufficiency of the Insulin-Like Growth Factor I Receptor due to Nonsense-Mediated Messenger Ribonucleic Acid Decay
Fang, Peng, Schwartz, I. David, Johnson, Betty D, Derr, Michael A, Roberts, Charles T, Hwa, Vivian, Rosenfeld, Ron G
Published in The journal of clinical endocrinology and metabolism (01.05.2009)
Published in The journal of clinical endocrinology and metabolism (01.05.2009)
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Journal Article
Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies
Ocaranza, Paula, Golekoh, Marjorie C, Andrew, Shayne F, Guo, Michael H, Kaplowitz, Paul, Saal, Howard, Rosenfeld, Ron G, Dauber, Andrew, Cassorla, Fernando, Backeljauw, Philippe F, Hwa, Vivian
Published in Hormone research in paediatrics (01.01.2017)
Published in Hormone research in paediatrics (01.01.2017)
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Journal Article
Severe Growth Hormone Insensitivity Resulting from Total Absence of Signal Transducer and Activator of Transcription 5b
Hwa, Vivian, Little, Brian, Adiyaman, Pelin, Kofoed, Eric M, Pratt, Katherine L, Ocal, Gonul, Berberoglu, Merih, Rosenfeld, Ron G
Published in The journal of clinical endocrinology and metabolism (01.07.2005)
Published in The journal of clinical endocrinology and metabolism (01.07.2005)
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