1-11 of 11
Authors: Giovanna Weber
Journal Article
Newborn Screening for Congenital Hypothyroidism: the Benefit of Using Differential TSH Cutoffs in a 2-Screen Program Free
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 1, January 2021, Pages e338–e349, https://doi.org/10.1210/clinem/dgaa789
Published: 30 October 2020
Journal Article
Neonatal Screening for Congenital Hypothyroidism: What Can We Learn From Discordant Twins? Free
The Journal of Clinical Endocrinology & Metabolism, Volume 104, Issue 12, December 2019, Pages 5765–5779, https://doi.org/10.1210/jc.2019-00900
Published: 09 July 2019
Journal Article
JAG1 Loss-Of-Function Variations as a Novel Predisposing Event in the Pathogenesis of Congenital Thyroid Defects Free
The Journal of Clinical Endocrinology & Metabolism, Volume 101, Issue 3, 1 March 2016, Pages 861–870, https://doi.org/10.1210/jc.2015-3403
Published: 01 March 2016
Journal Article
Congenital Hypothyroidism With Eutopic Thyroid Gland: Analysis of Clinical and Biochemical Features at Diagnosis and After Re-Evaluation Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 98, Issue 4, 1 April 2013, Pages 1395–1402, https://doi.org/10.1210/jc.2012-3174
Published: 01 April 2013
Journal Article
Congenital Hypothyroidism due to Defects of Thyroid Development and Mild Increase of TSH at Screening: Data From the Italian National Registry of Infants With Congenital Hypothyroidism Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 98, Issue 4, 1 April 2013, Pages 1403–1408, https://doi.org/10.1210/jc.2012-3273
Published: 01 April 2013
Journal Article
Frequent TSH Receptor Genetic Alterations with Variable Signaling Impairment in a Large Series of Children with Nonautoimmune Isolated Hyperthyrotropinemia Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 97, Issue 1, 1 January 2012, Pages E156–E160, https://doi.org/10.1210/jc.2011-1938
Published: 01 January 2012
Journal Article
Biallelic Inactivation of the Dual Oxidase Maturation Factor 2 (DUOXA2) Gene as a Novel Cause of Congenital Hypothyroidism Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 93, Issue 2, 1 February 2008, Pages 605–610, https://doi.org/10.1210/jc.2007-2020
Published: 01 February 2008
Journal Article
Growth Hormone-Releasing Hormone Resistance in Pseudohypoparathyroidism Type Ia: New Evidence for Imprinting of the Gsα Gene Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 88, Issue 9, 1 September 2003, Pages 4070–4074, https://doi.org/10.1210/jc.2002-022028
Published: 01 September 2003
Journal Article
Germline Mutations of TSH Receptor Gene as Cause of Nonautoimmune Subclinical Hypothyroidism Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 87, Issue 6, 1 June 2002, Pages 2549–2555, https://doi.org/10.1210/jcem.87.6.8536
Published: 01 June 2002
Journal Article
Hyperplastic Pituitary Gland, High Serum Glycoprotein Hormoneα -Subunit, and Variable Circulating Thyrotropin (TSH) Levels as Hallmark of Central Hypothyroidism due to Mutations of the TSHβ Gene Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 86, Issue 4, 1 April 2001, Pages 1600–1604, https://doi.org/10.1210/jcem.86.4.7411
Published: 01 April 2001
Journal Article
Molecular Analysis of the Pendred’s Syndrome Gene and Magnetic Resonance Imaging Studies of the Inner Ear Are Essential for the Diagnosis of True Pendred’s Syndrome Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 85, Issue 7, 1 July 2000, Pages 2469–2475, https://doi.org/10.1210/jcem.85.7.6694
Published: 01 July 2000
