152 related articles for article (PubMed ID: 33305909)
21. A novel termination site in a case of Stüve-Wiedemann syndrome: case report and review of literature.
Bhalla D; Sati S; Basel D; Karody V
Front Pediatr; 2024; 12():1341841. PubMed ID: 38628360
[TBL] [Abstract][Full Text] [Related]
22. Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review.
Warnier H; Barrea C; Bethlen S; Schrouff I; Harvengt J
Orphanet J Rare Dis; 2022 Apr; 17(1):174. PubMed ID: 35461249
[TBL] [Abstract][Full Text] [Related]
23. [Stüve-Wiedemann syndrome in two siblings: focusing on a male patient with the longest actual survival rate].
Reither M; Urban M; Kozlowski KS; Pritsch M; Tegtmeyer FK
Klin Padiatr; 2006; 218(2):79-84. PubMed ID: 16506108
[TBL] [Abstract][Full Text] [Related]
24. 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. PubMed ID: 26285796
[TBL] [Abstract][Full Text] [Related]
25. 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. PubMed ID: 14740318
[TBL] [Abstract][Full Text] [Related]
26. 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; 121A(2):156-8. PubMed ID: 12910496
[TBL] [Abstract][Full Text] [Related]
27. Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects.
Romeo Bertola D; Honjo RS; Baratela WA
Mol Syndromol; 2016 Apr; 7(1):12-8. PubMed ID: 27194968
[TBL] [Abstract][Full Text] [Related]
28. Characterization of a long-term survivor with Stüve-Wiedemann syndrome and mosaicism of a supernumerary marker chromosome.
Chen E; Cotter PD; Cohen RA; Lachman RS
Am J Med Genet; 2001 Jul; 101(3):240-5. PubMed ID: 11424139
[TBL] [Abstract][Full Text] [Related]
29. Implications of neuropathy and management of the corneal surface in a patient with Stuve-Wiedemann syndrome.
Cores ML; de Los Bueis AB
Rom J Ophthalmol; 2023; 67(4):412-415. PubMed ID: 38239413
[No Abstract] [Full Text] [Related]
30. 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. PubMed ID: 19603067
[TBL] [Abstract][Full Text] [Related]
31. Ultrasound findings of a rare congenital skeletal dysplasia: Stüve-Wiedemann syndrome.
Rugolo S; Cavallaro A; Giuffrida L; Cianci A
Minerva Ginecol; 2007 Feb; 59(1):91-4. PubMed ID: 17353878
[TBL] [Abstract][Full Text] [Related]
32. 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; 78(2):150-4. PubMed ID: 9674906
[TBL] [Abstract][Full Text] [Related]
33. Stüve-Wiedemann syndrome: update and historical footnote.
Wiedemann HR; Stüve A
Am J Med Genet; 1996 May; 63(1):12-6. PubMed ID: 8723080
[TBL] [Abstract][Full Text] [Related]
34. Oral ulceration in Stüve-Wiedemann syndrome: a new presentation.
Singh K; Borghol K; Williams R; McMillan K
BMJ Case Rep; 2021 Aug; 14(8):. PubMed ID: 34344643
[TBL] [Abstract][Full Text] [Related]
35. Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain.
Chabrol B; Sigaudy S; Paquis V; Montfort MF; Giudicelli H; Pellissier JF; Millet V; Mancini J; Philip N
Am J Med Genet; 1997 Oct; 72(2):222-6. PubMed ID: 9382147
[TBL] [Abstract][Full Text] [Related]
36. 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. PubMed ID: 15324311
[TBL] [Abstract][Full Text] [Related]
37. [Osseous abnormalities and CT findings in Stueve-Wiedemann-Syndrome (SWS)].
Langer R; Al-Gazali L; Haas D; Raupp P; Varady E
Rofo; 2004 Feb; 176(2):215-21. PubMed ID: 14872375
[TBL] [Abstract][Full Text] [Related]
38. Neuroparalytic keratopathy in Stüve-Wiedemann syndrome treated with tarsoconjunctival flap.
Hernández-García S; Valdivia HG; Bartomeu JP; Molina JS
Indian J Ophthalmol; 2023 Apr; 71(4):1651-1653. PubMed ID: 37026318
[TBL] [Abstract][Full Text] [Related]
39. 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. PubMed ID: 26279654
[TBL] [Abstract][Full Text] [Related]
40. 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. PubMed ID: 22316651
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]