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Items: 1 to 20 of 60

1.

Stüve-Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway.

Van De Maele K, Smulders C, Ecury-Goossen G, Rosina-Angelista I, Redeker E, van Haelst M.

Clin Dysmorphol. 2019 Apr;28(2):57-62. doi: 10.1097/MCD.0000000000000255.

PMID:
30614825
2.

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
3.

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.

Doyard M, Bacrot S, Huber C, Di Rocco M, Goldenberg A, Aglan MS, Brunelle P, Temtamy S, Michot C, Otaify GA, Haudry C, Castanet M, Leroux J, Bonnefont JP, Munnich A, Baujat G, Lapunzina P, Monnot S, Ruiz-Perez VL, Cormier-Daire V.

J Med Genet. 2018 Apr;55(4):278-284. doi: 10.1136/jmedgenet-2017-104999. Epub 2018 Jan 22.

PMID:
29358272
4.
5.

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.

6.

Developments in the Orthopaedic Management of Children With Stüve-Wiedemann Syndrome: Use of the Fassier-Duval Telescopic Rod to Maintain Correction of Deformity.

Wright J, Kazzaz S, Hill RA.

J Pediatr Orthop. 2017 Dec;37(8):e459-e463. doi: 10.1097/BPO.0000000000000711.

PMID:
26650577
7.

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.

8.

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
9.

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.

10.

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
11.

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
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.

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
14.

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
15.

Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome.

Negishi Y, Hattori A, Takeshita E, Sakai C, Ando N, Ito T, Goto Y, Saitoh S.

J Hum Genet. 2014 Jul;59(7):405-7. doi: 10.1038/jhg.2014.41. Epub 2014 May 15.

PMID:
24830958
16.

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.

17.

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
18.

Case report of prenatal diagnosis of Stüve-Wiedemann Syndrome in a woman with another child affected too.

Catavorello A, Vitale SG, Rossetti D, Caldaci L, Panella MM.

J Prenat Med. 2013 Jul;7(3):35-8.

19.

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.

20.

Delayed Tetraplegia After Thoracolumbar Scoliosis Surgery in Stuve-Wiedemann Syndrome.

Pizones J, Sponseller PD, Izquierdo E, Sanz E, Sánchez-Mariscal F, Álvarez P, Zúñiga L.

Spine Deform. 2013 Jan;1(1):72-78. doi: 10.1016/j.jspd.2012.08.001. Epub 2013 Jan 3.

PMID:
27927326

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