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Page 1
Larsen syndrome--lethal variety.
Kulkarni ML, Mohammed Z, Kulkarni PM. Kulkarni ML, et al. Indian J Pediatr. 2005 Dec;72(12):1053-4. Indian J Pediatr. 2005. PMID: 16388157
Spine malformation complex in 3 diverse syndromic entities: Case reports.
Kaissi AA, van Egmond-Fröhlich A, Ryabykh S, Ochirov P, Kenis V, Hofstaetter JG, Grill F, Ganger R, Kircher SG. Kaissi AA, et al. Medicine (Baltimore). 2016 Dec;95(50):e5505. doi: 10.1097/MD.0000000000005505. Medicine (Baltimore). 2016. PMID: 27977582 Free PMC article.
The necessity to diagnose children in their first year of life has many folds, firstly the management would be in favor of the child's growth and development and secondly, the prognosis could be clearer to the family and the medical staff as well. ...
The necessity to diagnose children in their first year of life has many folds, firstly the management would be in favor of the child's growt …
Larsen syndrome and its anaesthetic considerations.
Malik P, Choudhry DK. Malik P, et al. Paediatr Anaesth. 2002 Sep;12(7):632-6. doi: 10.1046/j.1460-9592.2002.00920.x. Paediatr Anaesth. 2002. PMID: 12358662
This patient had transient loss of evoked potentials during positioning and a stormy postoperative course requiring reintubation and a prolonged stay in the intensive care unit. The second case is a 22-month-old child who was scheduled for a repeat posterior cervical spina …
This patient had transient loss of evoked potentials during positioning and a stormy postoperative course requiring reintubation and …
Deciphering the Role of Filamin B Calponin-Homology Domain in Causing the Larsen Syndrome, Boomerang Dysplasia, and Atelosteogenesis Type I Spectrum Disorders via a Computational Approach.
S UK, Sankar S, Younes S, D TK, Ahmad MN, Okashah SS, Kamaraj B, Al-Subaie AM, C GPD, Zayed H. S UK, et al. Molecules. 2020 Nov 26;25(23):5543. doi: 10.3390/molecules25235543. Molecules. 2020. PMID: 33255942 Free PMC article.
Despite the intense clustering of FLNB variants contributing to the LS-AO-BD disorders, the genotype-phenotype correlation is still enigmatic. In silico prediction tools and molecular dynamics simulation (MDS) approaches have offered the potential for variant classificatio …
Despite the intense clustering of FLNB variants contributing to the LS-AO-BD disorders, the genotype-phenotype correlation is still enigmati …
Congenital Dislocation of the Knee in the Delivery Room.
Wilebski BJ, Alam A, Lambert RR, Douvoyiannis M. Wilebski BJ, et al. Am J Case Rep. 2024 May 14;25:e943725. doi: 10.12659/AJCR.943725. Am J Case Rep. 2024. PMID: 38741359 Free PMC article.
Because of the risk of development of contractures, immediate referral to a specialized provider is needed. Poor prognostic factors include an association with a genetic syndrome, limited knee flexion related to severe quadriceps retraction, and absence of anterior skin gr …
Because of the risk of development of contractures, immediate referral to a specialized provider is needed. Poor prognostic factors i …
The spectrum of arthrogryposis in 33 chinese children.
Wong V. Wong V. Brain Dev. 1997 Apr;19(3):187-96. doi: 10.1016/s0387-7604(96)00557-8. Brain Dev. 1997. PMID: 9134190
The majority (54%) belong to arthrogryposis multiplex congenita with a static clinical course. Children were classified into three groups: group I (limb involvement only; n = 21) having arthrogryposis multiplex congenita (n = 18), distal arthrogryposis syndrome (n = 2) and …
The majority (54%) belong to arthrogryposis multiplex congenita with a static clinical course. Children were classified into three gr …
Presumed Larsen syndrome in a child: a case with a 12-year follow-up.
Mei H, He R, Liu K, Wu J, Tang J, Yan A. Mei H, et al. J Pediatr Orthop B. 2015 May;24(3):268-73. doi: 10.1097/BPB.0000000000000126. J Pediatr Orthop B. 2015. PMID: 25536406
Management of multiple large-joint dislocations often proves difficult with a tendency toward recurrence, particularly if a patient has complete dislocation of the knee .We treated a boy with the clinical phenotype of Larsen syndrome using 10 orthopedic procedures, but failed to …
Management of multiple large-joint dislocations often proves difficult with a tendency toward recurrence, particularly if a patient has comp …
Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree.
Hickey SE, Koboldt DC, Mosher TM, Brennan P, Schmalz BA, Crist E, McBride KL, Adler BH, White P, Wilson RK. Hickey SE, et al. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a004176. doi: 10.1101/mcs.a004176. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31836586 Free PMC article.
A heterozygous in-frame deletion in FLNB c. 5468_5470delAGG, which predicts p.(Glu1823del), segregated with the disease. The variant is rare in the gnomAD database, removes a residue that is evolutionarily conserved, and is predicted to alter protein length. ...
A heterozygous in-frame deletion in FLNB c. 5468_5470delAGG, which predicts p.(Glu1823del), segregated with the disease. The variant …
26 results