293 related articles for article (PubMed ID: 18056050)
1. The skeletal dysplasias: clinical-molecular correlations.
Rimoin DL; Cohn D; Krakow D; Wilcox W; Lachman RS; Alanay Y
Ann N Y Acad Sci; 2007 Nov; 1117():302-9. PubMed ID: 18056050
[TBL] [Abstract][Full Text] [Related]
2. Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal.
Almeida MR; Campos-Xavier AB; Medeira A; Cordeiro I; Sousa AB; Lima M; Soares G; Rocha M; Saraiva J; Ramos L; Sousa S; Marcelino JP; Correia A; Santos HG
Clin Genet; 2009 Feb; 75(2):150-6. PubMed ID: 19215249
[TBL] [Abstract][Full Text] [Related]
3. Genetic heterogeneity in skeletal dysplasias.
Frias JL
Ann Clin Lab Sci; 1975; 5(6):435-9. PubMed ID: 812417
[TBL] [Abstract][Full Text] [Related]
4. Genetic skeletal dysplasia in Thailand: the Siriraj experience.
Wasant P; Waeteekul S; Rimoin DL; Lachman RS
Southeast Asian J Trop Med Public Health; 1995; 26 Suppl 1():59-67. PubMed ID: 8629144
[TBL] [Abstract][Full Text] [Related]
5. Molecular-pathogenetic classification of genetic disorders of the skeleton.
Superti-Furga A; Bonafé L; Rimoin DL
Am J Med Genet; 2001; 106(4):282-93. PubMed ID: 11891680
[TBL] [Abstract][Full Text] [Related]
6. Morphologic studies in the skeletal dysplasias.
Sillence DO; Horton WA; Rimoin DL
Am J Pathol; 1979 Sep; 96(3):813-70. PubMed ID: 474720
[TBL] [Abstract][Full Text] [Related]
7. Osteochondrodysplasias in South Africa.
Beighton P
Am J Med Genet; 1996 May; 63(1):7-11. PubMed ID: 8723079
[TBL] [Abstract][Full Text] [Related]
8. Skeletal Dysplasias: An Overview.
Offiah AC
Endocr Dev; 2015; 28():259-276. PubMed ID: 26138847
[TBL] [Abstract][Full Text] [Related]
9. Fetal skeletal anomalies.
Romero R; Athanassiadis AP; Jeanty P
Radiol Clin North Am; 1990 Jan; 28(1):75-99. PubMed ID: 2404307
[TBL] [Abstract][Full Text] [Related]
10. Radiology case of the month. Sclerotic bone disease in an 8-year-old dwarf. Pycnodysostosis.
Ram PB; Ram SK; Neitzschman H
J La State Med Soc; 2002; 154(6):287-8. PubMed ID: 12517022
[No Abstract] [Full Text] [Related]
11. [Genetic basis for skeletal disease. Nosology and molecular classification of skeletal dysplasias].
Namba N
Clin Calcium; 2010 Aug; 20(8):1159-65. PubMed ID: 20675925
[TBL] [Abstract][Full Text] [Related]
12. Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.
Barraza-García J; Rivera-Pedroza CI; Hisado-Oliva A; Belinchón-Martínez A; Sentchordi-Montané L; Duncan EL; Clark GR; Del Pozo A; Ibáñez-Garikano K; Offiah A; Prieto-Matos P; Cormier-Daire V; Heath KE
Clin Genet; 2017 Jul; 92(1):91-98. PubMed ID: 28067412
[TBL] [Abstract][Full Text] [Related]
13. Severe neurological complications in skeletal dysplasias: two case reports.
Weisfelt M; Poll-The BT; Hennekam RC
Eur J Paediatr Neurol; 2006; 10(5-6):241-3. PubMed ID: 17035051
[TBL] [Abstract][Full Text] [Related]
14. The lethal chondrodysplasias.
Maroteaux P; Stanescu V; Stanescu R
Clin Orthop Relat Res; 1976; (114):31-45. PubMed ID: 1261128
[TBL] [Abstract][Full Text] [Related]
15. International nosology and classification of constitutional disorders of bone (2001).
Hall CM
Am J Med Genet; 2002 Nov; 113(1):65-77. PubMed ID: 12400068
[TBL] [Abstract][Full Text] [Related]
16. A review of the principles of radiological assessment of skeletal dysplasias.
Alanay Y; Lachman RS
J Clin Res Pediatr Endocrinol; 2011; 3(4):163-78. PubMed ID: 22155458
[TBL] [Abstract][Full Text] [Related]
17. Current state of the art in treatment of Mendelian disease: Skeletal dysplasias.
Hoover-Fong J
Am J Med Genet A; 2021 Nov; 185(11):3359-3368. PubMed ID: 34487414
[TBL] [Abstract][Full Text] [Related]
18. Genetics of human isolated acromesomelic dysplasia.
Khan S; Basit S; Khan MA; Muhammad N; Ahmad W
Eur J Med Genet; 2016 Apr; 59(4):198-203. PubMed ID: 26926249
[TBL] [Abstract][Full Text] [Related]
19. Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia.
van Koningsbruggen S; Knoester H; Bakx R; Mook O; Knegt L; Cobben JM
Am J Med Genet A; 2016 Feb; 170A(2):510-514. PubMed ID: 26601923
[TBL] [Abstract][Full Text] [Related]
20. Genes and orthopedics: from gene to clinic and vice versa.
Debeer P; De Smet L; Van De Ven WJ; Fabry G; Fryns JP
Acta Orthop Belg; 2002 Jun; 68(3):203-14. PubMed ID: 12152367
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]