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.
124 related articles for article (PubMed ID: 28815954)
1. Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years. Legare JM; Seaborg K; Laffin J; Giampietro PF Am J Med Genet A; 2017 Oct; 173(10):2808-2813. PubMed ID: 28815954 [TBL] [Abstract][Full Text] [Related]
2. Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis. Kuchinskaya E; Grigelioniene G; Hammarsjö A; Lee HR; Högberg L; Grigelionis G; Kim OH; Nishimura G; Cho TJ Orphanet J Rare Dis; 2016 Jan; 11():1. PubMed ID: 26728142 [TBL] [Abstract][Full Text] [Related]
3. Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process. Braun F; Gangfuß A; Stöbe P; Haack TB; Schweiger B; Roos A; Schara U Mol Genet Genomic Med; 2021 Dec; 9(12):e1767. PubMed ID: 34288564 [TBL] [Abstract][Full Text] [Related]
4. Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder. Greenbaum L; Gilboa Y; Raas-Rothschild A; Barel O; Kol N; Reznik-Wolf H; Pode-Shakked B; Finezilber Y; Messing B; Berkenstadt M Eur J Med Genet; 2019 Mar; 62(3):167-171. PubMed ID: 30006055 [TBL] [Abstract][Full Text] [Related]
5. BMPER variants associated with a novel, attenuated subtype of diaphanospondylodysostosis. Zong Z; Tees S; Miyanji F; Fauth C; Reilly C; Lopez E; Tredwell S; Paul Goldberg Y; Delaney A; Eydoux P; Van Allen M; Lehman A J Hum Genet; 2015 Dec; 60(12):743-7. PubMed ID: 26467725 [TBL] [Abstract][Full Text] [Related]
6. Diaphanospondylodysostosis: Full Case Report with Novel Pathogenic Arredondo Montero J; Bronte Anaut M; Ruiz de Azúa Y; Morales Garofalo L Pediatr Dev Pathol; 2022; 25(3):321-326. PubMed ID: 34877902 [TBL] [Abstract][Full Text] [Related]
7. Further evidence for attenuated phenotype with variants in the BMPER gene causing DSD: Case report and literature review. Batey N; Spiller M; Balasubramanian M Eur J Med Genet; 2022 Apr; 65(4):104470. PubMed ID: 35240322 [TBL] [Abstract][Full Text] [Related]
8. Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype. Salian S; Nampoothiri S; Shukla A; Girisha KM Congenit Anom (Kyoto); 2019 Jan; 59(1):26-27. PubMed ID: 29704261 [No Abstract] [Full Text] [Related]
9. Long-term survival with diaphanospondylodysostosis (DSD): survival to 5 years and further phenotypic characteristics. Scottoline B; Rosenthal S; Keisari R; Kirpekar R; Angell C; Wallerstein R Am J Med Genet A; 2012 Jun; 158A(6):1447-51. PubMed ID: 22581610 [TBL] [Abstract][Full Text] [Related]
10. Successfully Managed Respiratory Insufficiency in a Patient with a Novel Pathogenic Variant of the Park HE; Yoon JA; Shin YB Diagnostics (Basel); 2022 Mar; 12(3):. PubMed ID: 35328179 [TBL] [Abstract][Full Text] [Related]
11. Ischiospinal dysostosis with cystic kidney disease: report of two cases. Nishimura G; Kim OH; Sato S; Hasegawa T Clin Dysmorphol; 2003 Apr; 12(2):101-4. PubMed ID: 12868471 [TBL] [Abstract][Full Text] [Related]
12. BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing. Funari VA; Krakow D; Nevarez L; Chen Z; Funari TL; Vatanavicharn N; Wilcox WR; Rimoin DL; Nelson SF; Cohn DH Am J Hum Genet; 2010 Oct; 87(4):532-7. PubMed ID: 20869035 [TBL] [Abstract][Full Text] [Related]
13. Ischiospinal dysostosis with rib gaps and nephroblastomatosis. Spranger J; Self S; Clarkson KB; Pai GS Clin Dysmorphol; 2001 Jan; 10(1):19-23. PubMed ID: 11152142 [TBL] [Abstract][Full Text] [Related]
14. Monozygotic twins discordant for spondylocostal dysostosis. Van Thienen MN; Van der Auwera BJ Am J Med Genet; 1994 Oct; 52(4):483-6. PubMed ID: 7747763 [TBL] [Abstract][Full Text] [Related]
15. Expanding the phenotype of spondylospinal thoracic dysostosis (the Turkel-Chen-Johnson syndrome). Becerra-Solano LE; Chacon L; Morales-Mata D; Ramírez-Dueñas Mde L; García-Ortiz JE Clin Dysmorphol; 2015 Jan; 24(1):1-6. PubMed ID: 25304117 [TBL] [Abstract][Full Text] [Related]
16. A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD). Ben-Neriah Z; Michaelson-Cohen R; Inbar-Feigenberg M; Nadjari M; Zeligson S; Shaag A; Zenvirt S; Elpeleg O; Levy-Lahad E Am J Med Genet A; 2011 Nov; 155A(11):2801-6. PubMed ID: 21990102 [TBL] [Abstract][Full Text] [Related]
17. A case of spondylocostal dysostosis with a fra (5) (q32). Satar M; Temoçin AK; Atici A; Demirhan O Turk J Pediatr; 1997; 39(4):547-9. PubMed ID: 9433158 [TBL] [Abstract][Full Text] [Related]
18. Segmentation defects of the human axial skeleton without dysostoses or skeletal dysplasias. Bates AW; Nale K Fetal Pediatr Pathol; 2005; 24(2):121-7. PubMed ID: 16243756 [TBL] [Abstract][Full Text] [Related]
19. Spondylocostal dysostosis, anal and genitourinary malformations in a fetal case: a new case of Casamassima-Morton-Nance syndrome? Thauvin-Robinet C; Laurent N; Rousseau T; Couvreur S; Cusin V; Callier P; Mugneret F; Durand C; Huet F; Sagot P; Faivre L Eur J Med Genet; 2007; 50(1):85-91. PubMed ID: 17056308 [TBL] [Abstract][Full Text] [Related]