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Select item 110189731.

A novel termination site in a case of Stüve–Wiedemann syndrome: case report and review of literature

Deepali Bhalla, Sunil Sati, Donald Basel, Vijender Karody

Front Pediatr. 2024; 12: 1341841. Published online 2024 Apr 2. doi: 10.3389/fped.2024.1341841

PMCID:: PMC11018973

Abstract Article PDF–1.8M

Select item 107946342.

Case Report: Stüve–Wiedemann syndrome—a rare cause of persistent pulmonary hypertension of the newborn

Jessica Jin, Paula Rothämel, Johanna Büchel, Birgit Kammer, Theresa Brunet, Joseph Pattathu, Andreas W. Flemmer, Claudia Nussbaum, Sebastian Schroepf

Front Pediatr. 2023; 11: 1329404. Published online 2024 Jan 4. doi: 10.3389/fped.2023.1329404

PMCID:: PMC10794634

Abstract Article PDF–4.8M

Select item 107933703.

Implications of neuropathy and management of the corneal surface in a patient with Stuve-Wiedemann syndrome

María Larrañaga Cores, Ana Boto de los Bueis

Rom J Ophthalmol. 2023 Oct-Dec; 67(4): 412–415. doi: 10.22336/rjo.2023.66

PMCID:: PMC10793370

Abstract Article PDF–355K

Select item 107466204.

The Human GP130 Cytokine Receptor and Its Expression—an Atlas and Functional Taxonomy of Genetic Variants

Yin-Huai Chen, Sarah van Zon, Alex Adams, Dirk Schmidt-Arras, Arian D. J. Laurence, Holm H. Uhlig

J Clin Immunol. 2024; 44(1): 30. Published online 2023 Dec 22. doi: 10.1007/s10875-023-01603-7

PMCID:: PMC10746620

Abstract Article PDF–1.5M

Select item 102767205.

Neuroparalytic keratopathy in Stüve-Wiedemann syndrome treated with tarsoconjunctival flap

Silvia Hernández-García, Hugo González Valdivia, Joan Prat Bartomeu, Jorge Sánchez Molina

Indian J Ophthalmol. 2023 Apr; 71(4): 1651–1653. Published online 2023 Apr 5. doi: 10.4103/IJO.IJO_3260_22

PMCID:: PMC10276720

Abstract Article PDF–1.1M

Select item 91525556.

Stüve-Wiedemann syndrome with a novel mutation in a Saudi infant

Jubara Alallah, Loujen Omar Alamoudi, Reham Mohmmed Makki, Aiman Shawli, Alaa T. AlHarbi

Int J Pediatr Adolesc Med. 2022 Jun; 9(2): 143–146. Published online 2021 Oct 9. doi: 10.1016/j.ijpam.2021.10.002

PMCID:: PMC9152555

Abstract Article PDF–555K

Select item 90344877.

Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review

Hélène Warnier, Christophe Barrea, Sarah Bethlen, Isabelle Schrouff, Julie Harvengt

Orphanet J Rare Dis. 2022; 17: 174. Published online 2022 Apr 23. doi: 10.1186/s13023-022-02323-8

PMCID:: PMC9034487

Abstract Article PDF–1.4M

Select item 83361818.

Oral ulceration in Stüve-Wiedemann syndrome: a new presentation

Kiran Singh, Khaled Borghol, Rhodri Williams, Kevin McMillan

BMJ Case Rep. 2021; 14(8): e241530. Published online 2021 Aug 3. doi: 10.1136/bcr-2020-241530

PMCID:: PMC8336181

Abstract Article PDF–384K

Select item 70625209.

Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome

Yin-Huai Chen, Giedre Grigelioniene, Phillip T. Newton, Jacob Gullander, Maria Elfving, Anna Hammarsjö, Dominyka Batkovskyte, Hessa S. Alsaif, Wesam I.Y. Kurdi, Firdous Abdulwahab, Veerabahu Shanmugasundaram, Luke Devey, Séverine Bacrot, Jana Brodszki, Celine Huber, Ben Hamel, David Gisselsson, Nikos Papadogiannakis, Katarina Jedrycha, Barbara Gürtl-Lackner, Andrei S. Chagin, Gen Nishimura, Dominik Aschenbrenner, Fowzan S. Alkuraya, Arian Laurence, Valérie Cormier-Daire, Holm H. Uhlig

J Exp Med. 2020 Mar 2; 217(3): e20191306. Published online 2020 Jan 8. doi: 10.1084/jem.20191306

PMCID:: PMC7062520

Abstract Article PDF–4.3M

Select item 583663710.

Rhabdomyolysis in Stuve-Wiedemann syndrome

Pemantah Sandheeah Ramdeny, Colin Powell, Mallinath Chakraborty, Louise Hartley

BMJ Case Rep. 2018; 2018: bcr2017222863. Published online 2018 Feb 8. doi: 10.1136/bcr-2017-222863

PMCID:: PMC5836637

Abstract Article PDF–157K

Select item 520777711.

Neuropathies of Stüve-Wiedemann Syndrome due to mutations in leukemia inhibitory factor receptor (LIFR) gene

Alexandra E. Oxford, Cheryl L. Jorcyk, Julia Thom Oxford

J Neurol Neuromedicine. Author manuscript; available in PMC 2017 Jan 3.

Published in final edited form as: J Neurol Neuromedicine. 2016; 1(7): 37–44. doi: 10.29245/2572.942x/2016/7.1068

PMCID:: PMC5207777

Abstract Article PDF–790K

Select item 486239712.

Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects

Débora Romeo Bertola, Rachel S. Honjo, Wagner A.R. Baratela

Mol Syndromol. 2016 Apr; 7(1): 12–18. Published online 2016 Mar 16. doi: 10.1159/000444729

PMCID:: PMC4862397

Abstract Article PDF–182K

Select item 469313313.

Stuve-Wiedemann syndrome with a novel mutation

Megan Knipe, Rowan Stanbury, Sheila Unger, Mallinath Chakraborty

BMJ Case Rep. 2015; 2015: bcr2015212032. Published online 2015 Aug 31. doi: 10.1136/bcr-2015-212032

PMCID:: PMC4693133

Abstract Article PDF–300K

Select item 452106914.

Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome

Júlia Hatagami Marques, Guilherme Lopes Yamamoto, Larissa de Cássia Testai, Alexandre da Costa Pereira, Chong Ae Kim, Maria R. Passos-Bueno, Débora Romeo Bertola

Mol Syndromol. 2015 Jul; 6(2): 87–90. Published online 2015 May 27. doi: 10.1159/000407418

PMCID:: PMC4521069

Abstract Article PDF–224K

Select item 426506415.

Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy

Mariarosa A B Melone, Michael J Pellegrino, Maria Nolano, Beth A Habecker, Stefan Johansson, Neil M Nathanson, Per M Knappskog, Angelika F Hahn, Helge Boman

Ann Clin Transl Neurol. 2014 Nov; 1(11): 926–932. Published online 2014 Oct 24. doi: 10.1002/acn3.126