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Items: 1 to 20 of 100

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 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
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: 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
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.

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.

7.

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.

8.

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
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.

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.

11.

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
12.

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
13.

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
14.

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
15.

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.

16.

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
17.

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
18.

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
19.

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.

20.

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