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Items: 1 to 20 of 101

1.

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
2.

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
3.

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
4.

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.

5.

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
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.

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
8.

Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report.

Gaspar IM, Saldanha T, Cabral P, Vilhena MM, Tuna M, Costa C, Dagoneau N, Daire VC, Hennekam RC.

Am J Med Genet A. 2008 Jul 1;146A(13):1748-53. doi: 10.1002/ajmg.a.32325. Review.

PMID:
18546280
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.

PMID:
26323980
10.

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
11.

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.

12.

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.

13.

Presentation of six cases of Stüve-Wiedemann syndrome.

Cormier-Daire V, Munnich A, Lyonnet S, Rustin P, Delezoide AL, Maroteaux P, Le Merrer M.

Pediatr Radiol. 1998 Oct;28(10):776-80.

PMID:
9799300
14.

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.

15.

Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping".

Superti-Furga A, Tenconi R, Clementi M, Eich G, Steinmann B, Boltshauser E, Giedion A.

Am J Med Genet. 1998 Jun 30;78(2):150-4.

PMID:
9674906
16.

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
17.

Cardiovascular abnormalities associated with the Stuve-Wiedemann syndrome.

Raas-Rothschild A, Ergaz-Schaltiel Z, Bar-Ziv J, Rein AJ.

Am J Med Genet A. 2003 Aug 30;121A(2):156-8. Review.

PMID:
12910496
18.

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.

19.

Multiple exostotic hypochondroplasia: syndrome of combined hypochondroplasia and multiple exostoses.

Dominguez R, Young LW, Steele MW, Girdany BR.

Pediatr Radiol. 1984;14(5):356-9.

PMID:
6332296
20.

Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2.

Cormier-Daire V, Superti-Furga A, Munnich A, Lyonnet S, Rustin P, Delezoide AL, De Lonlay P, Giedion A, Maroteaux P, Le Merrer M.

Am J Med Genet. 1998 Jun 30;78(2):146-9.

PMID:
9674905
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