The short mRNA isoform of the immunoglobulin superfamily, member 1 gene encodes an intracellular glycoprotein

por Wang, Ying, Brûlé, Emilie, Silander, Tanya, Bak, Beata, Joustra, Sjoerd D., Bernard, Daniel J.
Publicado 2017

From Consternation to Revelation: Discovery of a Role for IGSF1 in Pituitary Control of Thyroid Function

por Bernard, Daniel J., Brûlé, Emilie, Smith, Courtney L., Joustra, Sjoerd D., Wit, Jan M.
Publicado 2018

The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth

por Ghanny, Steven, Zidell, Aliza, Pedro, Helio, Joustra, Sjoerd D., Losekoot, Monique, Wit, Jan M., Aisenberg, Javier
Publicado 2021

Case Report: A Detailed Phenotypic Description of Patients and Relatives with Combined Central Hypothyroidism and Growth Hormone Deficiency Carrying IGSF1 Mutations

por Elizabeth, Melitza S. M., Hokken-Koelega, Anita, Visser, Jenny A., Joustra, Sjoerd D., de Graaff, Laura C. G.
Publicado 2022

A Novel Pathogenic IGSF1 Variant in a Patient with GH and TSH Deficiency Diagnosed by High IGF-I Values at Transition to Adult Care

por Kardelen, Aslı Derya, Karakılıç Özturan, Esin, Poyrazoğlu, Şükran, Baş, Firdevs, Ceylaner, Serdar, Joustra, Sjoerd D., Wit, Jan M., Darendeliler, Feyza
Publicado 2023

IGSF1 deficiency syndrome: A newly uncovered endocrinopathy

por Joustra, Sjoerd D., van Trotsenburg, A. S. Paul, Sun, Yu, Losekoot, Monique, Bernard, Daniel J., Biermasz, Nienke R., Oostdijk, Wilma, Wit, Jan M.
Publicado 2013

High Prevalence of Metabolic Syndrome Features in Patients Previously Treated for Nonfunctioning Pituitary Macroadenoma

por Joustra, Sjoerd D., Claessen, Kim M. J. A., Dekkers, Olaf M., van Beek, André P., Wolffenbuttel, Bruce H. R., Pereira, Alberto M., Biermasz, Nienke R.
Publicado 2014

Delayed Adrenarche may be an Additional Feature of Immunoglobulin Super Family Member 1 Deficiency Syndrome

por Hulle, Severine Van, Craen, Margarita, Callewaert, Bert, Joustra, Sjoerd, Oostdijk, Wilma, Losekoot, Monique, Wit, Jan Maarten, Turgeon, Marc Olivier, Bernard, Daniel J., Schepper, Jean De
Publicado 2016

IGSF1 Does Not Regulate Spermatogenesis or Modify FSH Synthesis in Response to Inhibins or Activins

por Brûlé, Emilie, Heinen, Charlotte A, Smith, Courtney L, Schang, Gauthier, Li, Yining, Zhou, Xiang, Wang, Ying, Joustra, Sjoerd D, Wit, Jan M, Fliers, Eric, Repping, Sjoerd, van Trotsenburg, A S Paul, Bernard, Daniel J
Publicado 2021

Mutations in TBL1X Are Associated With Central Hypothyroidism

por Heinen, Charlotte A., Losekoot, Monique, Sun, Yu, Watson, Peter J., Fairall, Louise, Joustra, Sjoerd D., Zwaveling-Soonawala, Nitash, Oostdijk, Wilma, van den Akker, Erica L. T., Alders, Mariëlle, Santen, Gijs W. E., van Rijn, Rick R., Dreschler, Wouter A., Surovtseva, Olga V., Biermasz, Nienke R., Hennekam, Raoul C., Wit, Jan M., Schwabe, John W. R., Boelen, Anita, Fliers, Eric, van Trotsenburg, A. S. Paul
Publicado 2016

IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction

por Joustra, Sjoerd D, Roelfsema, Ferdinand, van Trotsenburg, A S Paul, Schneider, Harald J, Kosilek, Robert P, Kroon, Herman M, Logan, John G, Butterfield, Natalie C, Zhou, Xiang, Toufaily, Chirine, Bak, Beata, Turgeon, Marc-Olivier, Brûlé, Emilie, Steyn, Frederik J, Gurnell, Mark, Koulouri, Olympia, Le Tissier, Paul, Fontanaud, Pierre, Duncan Bassett, J H, Williams, Graham R, Oostdijk, Wilma, Wit, Jan M, Pereira, Alberto M, Biermasz, Nienke R, Bernard, Daniel J, Schoenmakers, Nadia
Publicado 2019

Response to Letter to the Editor: “IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction”

por Joustra, Sjoerd D, Roelfsema, Ferdinand, van Trotsenburg, A S Paul, Schneider, Harald J, Kosilek, Robert P, Kroon, Herman M, Logan, John G, Butterfield, Natalie C, Zhou, Xiang, Toufaily, Chirine, Bak, Beata, Turgeon, Marc-Olivier, Brûlé, Emilie, Steyn, Frederik J, Gurnell, Mark, Koulouri, Olympia, Le Tissier, Paul, Fontanaud, Pierre, Bassett, J H Duncan, Williams, Graham R, Oostdijk, Wilma, Wit, Jan M, Pereira, Alberto M, Biermasz, Nienke R, Bernard, Daniel J, Schoenmakers, Nadia
Publicado 2020