These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
157 related articles for article (PubMed ID: 28687525)
21. Spectrum of dolichospondylic dysplasia: two new patients with distinctive findings. Elliott AM; Graham JM; Curry CJ; Pal T; Rimoin DL; Lachman RS Am J Med Genet; 2002 Dec; 113(4):351-61. PubMed ID: 12457407 [TBL] [Abstract][Full Text] [Related]
22. Metatropic Dysplasia with a Novel Mutation in TRPV4. Narayanan DL; Bhavani GS; Girisha KM; Phadke SR Indian Pediatr; 2016 Aug; 53(8):735-7. PubMed ID: 27567651 [TBL] [Abstract][Full Text] [Related]
23. Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report. Uzman CY; Çankaya T; Güleryüz H; Ülgenalp A; Bozkaya ÖG Skeletal Radiol; 2023 Jan; 52(1):115-118. PubMed ID: 35776137 [TBL] [Abstract][Full Text] [Related]
24. TRPV4-pathy, a novel channelopathy affecting diverse systems. Dai J; Cho TJ; Unger S; Lausch E; Nishimura G; Kim OH; Superti-Furga A; Ikegawa S J Hum Genet; 2010 Jul; 55(7):400-2. PubMed ID: 20505684 [TBL] [Abstract][Full Text] [Related]
25. Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course. Grigelioniene G; Geiberger S; Horemuzova E; Moström E; Jäntti N; Neumeyer L; Åström E; Nordenskjöld M; Nordgren A; Mäkitie O Am J Med Genet A; 2014 Jul; 164A(7):1635-41. PubMed ID: 24677493 [TBL] [Abstract][Full Text] [Related]
26. Spondylometaphyseal dysplasia, east-African type: a new form of early, severe SMD with rounded vertebrae. Verloes A; Lepage P; Baumann C; Maroteaux P; Merrer ML Am J Med Genet; 2002 Dec; 113(4):362-6. PubMed ID: 12457408 [TBL] [Abstract][Full Text] [Related]
27. Accelerated osteoblastic differentiation in patient-derived dental pulp stem cells carrying a gain-of-function mutation of TRPV4 associated with metatropic dysplasia. Han X; Kato H; Sato H; Hirofuji Y; Fukumoto S; Masuda K Biochem Biophys Res Commun; 2020 Mar; 523(4):841-846. PubMed ID: 31954514 [TBL] [Abstract][Full Text] [Related]
28. Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype. Ürel-Demir G; Şimşek-Kiper PÖ; Öncel İ; Utine GE; Haliloğlu G; Boduroğlu K Eur J Paediatr Neurol; 2021 May; 32():46-55. PubMed ID: 33774370 [TBL] [Abstract][Full Text] [Related]
30. Failure of ossification of the occipital bone in mandibuloacral dysplasia type B. Haye D; Dridi H; Levy J; Lambert V; Lambert M; Agha M; Adjimi F; Kohlhase J; Lipsker D; Verloes A Am J Med Genet A; 2016 Oct; 170(10):2750-5. PubMed ID: 27410998 [TBL] [Abstract][Full Text] [Related]
31. [Myotonic chondrodystrophy (or Schwartz-Jampel syndrome). Study of siblings and review of the literature]. Desbois JC; Guyou JM; Grenet P; Herrault A Ann Pediatr (Paris); 1977 Sep; 24(8-9):563-74. PubMed ID: 16211910 [No Abstract] [Full Text] [Related]
32. Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia. Ikegawa S; Nishimura G; Nagai T; Hasegawa T; Ohashi H; Nakamura Y Am J Hum Genet; 1998 Dec; 63(6):1659-62. PubMed ID: 9837818 [TBL] [Abstract][Full Text] [Related]
33. Osteochondrodysplasia in Fryns syndrome. Kershisnik MM; Craven CM; Jung AL; Carey JC; Knisely AS Am J Dis Child; 1991 Jun; 145(6):656-60. PubMed ID: 1903587 [TBL] [Abstract][Full Text] [Related]
34. Freeman-Sheldon (whistling face) syndrome with hyperpyrexia in the newborn: case report. Altunhan H; Annagür A; Ertuğrul S; Pekcan S; Ors R Genet Couns; 2010; 21(3):347-51. PubMed ID: 20964128 [TBL] [Abstract][Full Text] [Related]
35. Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1-related. Ramos-Mejía R; Heath KE; Modamio-Høybjør S; Huckstadt V; Calcagni J; Remondino R; Fano V Am J Med Genet A; 2024 Mar; 194(3):e63469. PubMed ID: 37940834 [TBL] [Abstract][Full Text] [Related]
36. Radiographic/MR Imaging Correlation of Paravertebral Ossifications in Ligaments and Bony Vertebral Outgrowths: Anatomy, Early Detection, and Clinical Impact. Reijnierse M Magn Reson Imaging Clin N Am; 2019 Nov; 27(4):641-659. PubMed ID: 31575398 [TBL] [Abstract][Full Text] [Related]
37. A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene. Khalifa O; Imtiaz F; Allam R; Al-Hassnan Z; Al-Hemidan A; Al-Mane K; Abuharb G; Balobaid A; Sakati N; Hyland J; Al-Owain M J Med Genet; 2012 Apr; 49(4):246-8. PubMed ID: 22499343 [No Abstract] [Full Text] [Related]
38. Long-Term Observations in an Affected Family with Neurogenic Scapuloperoneal Syndrome Caused by Mutation R269C in the TRPV4 Gene. Vill K; Kuhn M; Gläser D; Walter MC; Müller-Felber W Neuropediatrics; 2015 Aug; 46(4):282-6. PubMed ID: 26110311 [TBL] [Abstract][Full Text] [Related]
39. Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures". Costantini A; Valta H; Baratang NV; Yap P; Bertola DR; Yamamoto GL; Kim CA; Chen J; Wierenga KJ; Fanning EA; Escobar L; McWalter K; McLaughlin H; Willaert R; Begtrup A; Alm JJ; Reinhardt DP; Mäkitie O; Campeau PM Bone; 2019 Apr; 121():163-171. PubMed ID: 30599297 [TBL] [Abstract][Full Text] [Related]
40. Spondylo-megaepiphyseal-metaphyseal dysplasia: a new bone dysplasia resembling cleidocranial dysplasia. Silverman FN; Reiley MA Radiology; 1985 Aug; 156(2):365-71. PubMed ID: 3925497 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]