110 related articles for article (PubMed ID: 7077620)
1. A new variant of spondylometaphyseal dysplasia with autosomal dominant mode of inheritance.
García-Castro JM; Isales-Forsythe CM; Díaz de Garau P
J Med Genet; 1982 Apr; 19(2):104-9. PubMed ID: 7077620
[TBL] [Abstract][Full Text] [Related]
2. Spondylometaphyseal dysplasia, type VII.
Diren HB; Büyükgebiz B; Büyügebiz A; Pirnar T
Pediatr Radiol; 1992; 22(2):87-9. PubMed ID: 1501957
[TBL] [Abstract][Full Text] [Related]
3. Spondylometaphyseal dysplasia.
Thomas PS; Nevin NC
AJR Am J Roentgenol; 1977 Jan; 128(1):89-93. PubMed ID: 401596
[TBL] [Abstract][Full Text] [Related]
4. TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.
Andreucci E; Aftimos S; Alcausin M; Haan E; Hunter W; Kannu P; Kerr B; McGillivray G; McKinlay Gardner RJ; Patricelli MG; Sillence D; Thompson E; Zacharin M; Zankl A; Lamandé SR; Savarirayan R
Orphanet J Rare Dis; 2011 Jun; 6():37. PubMed ID: 21658220
[TBL] [Abstract][Full Text] [Related]
5. Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
Krakow D; Vriens J; Camacho N; Luong P; Deixler H; Funari TL; Bacino CA; Irons MB; Holm IA; Sadler L; Okenfuss EB; Janssens A; Voets T; Rimoin DL; Lachman RS; Nilius B; Cohn DH
Am J Hum Genet; 2009 Mar; 84(3):307-15. PubMed ID: 19232556
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. A dominant syndrome of metacarpal and metatarsal asymmetry with tarsal and carpal fusions, syndactyly, articular dysplasia and platyspondyly.
Christian JC; Franken EA; Lindeman JP; Lindseth RE; Reed T; Scott CI
Clin Genet; 1975 Jul; 8(1):75-80. PubMed ID: 168022
[TBL] [Abstract][Full Text] [Related]
8. Autosomal dominant craniometaphyseal dysplasia. Clinical variability.
Carnevale A; Grether P; del Castillo V; Takenaga R; Orzechowski A
Clin Genet; 1983 Jan; 23(1):17-22. PubMed ID: 6831758
[TBL] [Abstract][Full Text] [Related]
9. Generalized enchondromatosis in a boy with only platyspondyly in the father.
Halal F; Azouz EM
Am J Med Genet; 1991 Mar; 38(4):588-92. PubMed ID: 2063903
[TBL] [Abstract][Full Text] [Related]
10. Acromesomelic dysplasia.
Langer LO; Garrett RT
Radiology; 1980 Nov; 137(2):349-55. PubMed ID: 7433666
[TBL] [Abstract][Full Text] [Related]
11. Spondylometaphyseal dysplasia: further heterogeneity.
Borochowitz Z; Berant M; Kristal H
Skeletal Radiol; 1988; 17(3):181-6. PubMed ID: 3375844
[TBL] [Abstract][Full Text] [Related]
12. Frontometaphyseal dysplasia: evidence for autosomal dominant inheritance.
Kassner EG; Haller JO; Reddy VH; Mitarotundo A; Katz I
AJR Am J Roentgenol; 1976 Dec; 127(6):927-33. PubMed ID: 998829
[TBL] [Abstract][Full Text] [Related]
13. Microspherophakia-metaphyseal dysplasia: a 'new' dominantly inherited bone dysplasia with severe eye involvement.
Verloes A; Van Maldergem L; de Marneffe P; Dufier JL; Maroteaux P
J Med Genet; 1990 Jul; 27(7):467-71. PubMed ID: 2395168
[TBL] [Abstract][Full Text] [Related]
14. Spondylometaphyseal dysplasia, corner fracture type: a heritable condition associated with coxa vara.
Langer LO; Brill PW; Ozonoff MB; Pauli RM; Wilson WG; Alford BA; Pavlov H; Drake DG
Radiology; 1990 Jun; 175(3):761-6. PubMed ID: 2343127
[TBL] [Abstract][Full Text] [Related]
15. Spondylometepiphyseal dysplasia, Strudwick type.
Anderson CE; Sillence DO; Lachman RS; Toomey K; Bull M; Dorst J; Rimoin DL
Am J Med Genet; 1982 Nov; 13(3):243-56. PubMed ID: 6817637
[TBL] [Abstract][Full Text] [Related]
16. Kyphomelic dysplasia: a report of a family with an autosomal dominant pattern.
Toledo C; Navarro-Barros R; Alba L; Muñoz E
Ann Genet; 1999; 42(3):170-3. PubMed ID: 10526661
[TBL] [Abstract][Full Text] [Related]
17. [3 cases of spondylometaphyseal dysplasia in one family].
Van de Velde E; Hooft C; Vandenabeele B; Redant W
J Belge Radiol; 1972; 55(6):623-30. PubMed ID: 4661491
[No Abstract] [Full Text] [Related]
18. Variability in kyphomelic dysplasia.
Cisarik F; Kozlowski K; Masel J; Sillence D
Pediatr Radiol; 1999 Jul; 29(7):551-7. PubMed ID: 10398797
[TBL] [Abstract][Full Text] [Related]
19. Campomelic dysplasia: evidence of autosomal dominant inheritance.
Lynch SA; Gaunt ML; Minford AM
J Med Genet; 1993 Aug; 30(8):683-6. PubMed ID: 8411055
[TBL] [Abstract][Full Text] [Related]
20. TRPV4-associated skeletal dysplasias.
Nishimura G; Lausch E; Savarirayan R; Shiba M; Spranger J; Zabel B; Ikegawa S; Superti-Furga A; Unger S
Am J Med Genet C Semin Med Genet; 2012 Aug; 160C(3):190-204. PubMed ID: 22791502
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]