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Items: 1 to 20 of 89

1.

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
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.

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
4.

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
5.

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.

6.

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.

7.

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
8.

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
9.

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
10.

Ocular treatment of children with Stuve-Wiedemann syndrome.

Injarie AM, Narang A, Idrees Z, Saggar AK, Nischal KK.

Cornea. 2012 Mar;31(3):269-72. doi: 10.1097/ICO.0b013e3182182089.

PMID:
22316651
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.

Congenital bowing of the long bones in two fetuses presenting features of Stüve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2.

Sigaudy S, Moncla A, Fredouille C, Bourlière B, Lambert JC, Philip N.

Clin Dysmorphol. 1998 Oct;7(4):257-62.

PMID:
9823491
13.

EXT-related pathways are not involved in the pathogenesis of dysplasia epiphysealis hemimelica and metachondromatosis.

Bovée JV, Hameetman L, Kroon HM, Aigner T, Hogendoorn PC.

J Pathol. 2006 Jul;209(3):411-9.

PMID:
16622899
14.

Bilateral giant retinal tears in a pediatric patient with leukemia inhibitory factor receptor deficiency (Stuve-Wiedemann syndrome).

Palejwala NV, Stempel AJ, Stout JT.

Retin Cases Brief Rep. 2015 Summer;9(3):245-7. doi: 10.1097/ICB.0000000000000150.

PMID:
25876185
15.

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.

16.

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.

17.

[Management of a short femur discovered via ultrasound in utero. Prenatal diagnosis of Stuve-Wiedemann syndrome].

Philippe HJ, Paupe A, Dompeyre P, Lenclen R, Nisand I.

J Gynecol Obstet Biol Reprod (Paris). 1993;22(3):269-74. Review. French.

PMID:
8345151
18.

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
19.

Usefulness of fetal autopsy in the diagnosis of blomstrand chondrodysplasia: a report of three cases.

Beena S, Murlidhar L, Seshadri S, Jagadeesh S, Suresh I.

J Matern Fetal Neonatal Med. 2017 May;30(9):1041-1044. doi: 10.1080/14767058.2016.1199675. Epub 2016 Aug 10.

PMID:
27353973
20.

[The multiple exostoses syndrome. 3 cases in one family].

Venuta A, Laudizi L, Forese S, Bettelli F, Caroli A.

Pediatr Med Chir. 1994 Jul-Aug;16(4):403-4. Review. Italian.

PMID:
7816707

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