Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 98

1.

Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology.

Mikelonis D, Jorcyk CL, Tawara K, Oxford JT.

Orphanet J Rare Dis. 2014 Mar 12;9:34. doi: 10.1186/1750-1172-9-34. Review.

2.
3.

Effects of leukemia inhibitory receptor gene mutations on human hypothalamo-pituitary-adrenal function.

Guran T, Guran O, Paketci C, Kipoglu O, Firat I, Turan S, Atay Z, Haliloglu B, Bereket A.

Pituitary. 2015 Aug;18(4):456-60. doi: 10.1007/s11102-014-0594-5.

PMID:
25145448
4.

Long-term follow-up in Stuve-Wiedemann syndrome: a case report with articular involvement.

Buonuomo PS, Macchiaiolo M, Cambiaso P, Rana I, Digilio MC, Bartuli A.

Clin Dysmorphol. 2014 Apr;23(2):45-6. doi: 10.1097/MCD.0000000000000023. No abstract available.

PMID:
24477277
5.

Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity.

Jung C, Dagoneau N, Baujat G, Le Merrer M, David A, Di Rocco M, Hamel B, Mégarbané A, Superti-Furga A, Unger S, Munnich A, Cormier-Daire V.

Clin Genet. 2010 Mar;77(3):266-72. doi: 10.1111/j.1399-0004.2009.01314.x.

PMID:
20447141
6.

Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.

Dagoneau N, Scheffer D, Huber C, Al-Gazali LI, Di Rocco M, Godard A, Martinovic J, Raas-Rothschild A, Sigaudy S, Unger S, Nicole S, Fontaine B, Taupin JL, Moreau JF, Superti-Furga A, Le Merrer M, Bonaventure J, Munnich A, Legeai-Mallet L, Cormier-Daire V.

Am J Hum Genet. 2004 Feb;74(2):298-305. Epub 2004 Jan 21.

7.

Stüve-Wiedemann syndrome in a neonate.

Sarafidis K, Piretzi K, Agakidou E, Kohlhase J, Zafeiriou D.

Pediatr Int. 2015 Apr;57(2):302-4. doi: 10.1111/ped.12431.

PMID:
25868946
8.

Stuve-Wiedemann syndrome: is it underrecognized?

Yeşil G, Lebre AS, Santos SD, Güran O, Özahi II, Daire VC, Güran T.

Am J Med Genet A. 2014 Sep;164A(9):2200-5. doi: 10.1002/ajmg.a.36626. Epub 2014 Jul 2.

PMID:
24988918
9.

Stuve-Wiedemann syndrome with a novel mutation.

Knipe M, Stanbury R, Unger S, Chakraborty M.

BMJ Case Rep. 2015 Aug 30;2015. pii: bcr2015212032. doi: 10.1136/bcr-2015-212032.

10.

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

Hatagami Marques J, Lopes Yamamoto G, de Cássia Testai L, da Costa Pereira A, Kim CA, Passos-Bueno MR, Romeo Bertola D.

Mol Syndromol. 2015 Jul;6(2):87-90. doi: 10.1159/000407418. Epub 2015 May 27.

11.

Stüve-Wiedemann syndrome and related bent bone dysplasias.

Akawi NA, Ali BR, Al-Gazali L.

Clin Genet. 2012 Jul;82(1):12-21. doi: 10.1111/j.1399-0004.2012.01852.x. Epub 2012 Feb 21. Review.

PMID:
22300393
12.

Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy.

Melone MA, Pellegrino MJ, Nolano M, Habecker BA, Johansson S, Nathanson NM, Knappskog PM, Hahn AF, Boman H.

Ann Clin Transl Neurol. 2014 Nov;1(11):926-32. doi: 10.1002/acn3.126. Epub 2014 Oct 24.

13.

Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects.

Romeo Bertola D, Honjo RS, Baratela WA.

Mol Syndromol. 2016 Apr;7(1):12-8. doi: 10.1159/000444729. Epub 2016 Mar 16. Review.

14.

New insights in congenital bowing of the femora.

Cormier-Daire V, Geneviève D, Munnich A, Le Merrer M.

Clin Genet. 2004 Sep;66(3):169-76. Review.

PMID:
15324311
15.

Rhabdomyolysis in Stuve-Wiedemann syndrome.

Ramdeny PS, Powell C, Chakraborty M, Hartley L.

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

PMID:
29437806
16.

In vitro readthrough of termination codons by gentamycin in the Stüve-Wiedemann Syndrome.

Bellais S, Le Goff C, Dagoneau N, Munnich A, Cormier-Daire V.

Eur J Hum Genet. 2010 Jan;18(1):130-2. doi: 10.1038/ejhg.2009.122.

17.

Abnormal oral-pharyngeal swallowing as cause of morbidity and early death in Stüve-Wiedemann syndrome.

Corona-Rivera JR, Cormier-Daire V, Dagoneau N, Coello-Ramírez P, López-Marure E, Romo-Huerta CO, Silva-Baez H, Aguirre-Salas LM, Estrada-Solorio MI.

Eur J Med Genet. 2009 Jul-Aug;52(4):242-6. doi: 10.1016/j.ejmg.2009.04.001. Epub 2009 Apr 14.

PMID:
19371797
18.

Non-truncating LIFR mutation: causal for prominent congenital pain insensitivity phenotype with progressive vertebral destruction?

Elsaid MF, Chalhoub N, Kamel H, Ehlayel M, Ibrahim N, Elsaid A, Kumar P, Khalak H, Ilyin VA, Suhre K, Abdel Aleem A.

Clin Genet. 2016 Feb;89(2):210-6. doi: 10.1111/cge.12657. Epub 2015 Sep 29.

PMID:
26285796
19.

Stuve-Wiedemann syndrome: a skeletal dysplasia characterized by bowed long bones.

Begam MA, Alsafi W, Bekdache GN, Chedid F, Al-Gazali L, Mirghani HM.

Ultrasound Obstet Gynecol. 2011 Nov;38(5):553-8. doi: 10.1002/uog.8967.

20.

One in three: congenital bent bone disease and intermittent hyperthermia in three siblings with stuve-wiedemann syndrome.

Koul R, Al-Kindy A, Mani R, Sankhla D, Al-Futaisi A.

Sultan Qaboos Univ Med J. 2013 May;13(2):301-5. Epub 2013 May 9.

Supplemental Content

Support Center