165 related articles for article (PubMed ID: 9678701)
1. A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations.
Hall CM; Elçioglu NH; Shaw DG
J Med Genet; 1998 Jul; 35(7):566-72. PubMed ID: 9678701
[TBL] [Abstract][Full Text] [Related]
2. Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance.
Hall CM; Elcioglu NH; MacDermot KD; Offiah AC; Winter RM
J Med Genet; 2002 Sep; 39(9):666-70. PubMed ID: 12205110
[No Abstract] [Full Text] [Related]
3. Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature?
Holder-Espinasse M; Fayoux P; Morillon S; Fourier C; Dieux-Coeslier A; Manouvrier-Hanu S; Le Merrer M; Hall CM
Clin Dysmorphol; 2004 Jul; 13(3):133-135. PubMed ID: 15194947
[TBL] [Abstract][Full Text] [Related]
4. A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients.
Kim OH; Cho TJ; Song HR; Chung CY; Miyagawa S; Nishimura G; Superti-Furga A; Unger S
Skeletal Radiol; 2009 Aug; 38(8):803-11. PubMed ID: 19277648
[TBL] [Abstract][Full Text] [Related]
5. A new syndrome of multiple joint dislocations with metaphyseal dysplasia.
Phaoke SR; Sharma AK; Agarawal SS
Clin Dysmorphol; 1993 Jul; 2(3):264-8. PubMed ID: 7506968
[TBL] [Abstract][Full Text] [Related]
6. Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance.
Park SM; Hall CM; Gray R; Firth HV
Am J Med Genet A; 2007 Sep; 143A(17):2024-8. PubMed ID: 17676604
[TBL] [Abstract][Full Text] [Related]
7. New form of spondyloepimetaphyseal dysplasia (SEMD) in Jewish family of Iraqi origin.
Shohat M; Lachman R; Carmi R; Bar Ziv J; Rimoin D
Am J Med Genet; 1993 Jun; 46(4):358-62. PubMed ID: 8357004
[TBL] [Abstract][Full Text] [Related]
8. Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: clinical course and phenotypic variations in four patients.
Nishimura G; Honma T; Shiihara T; Manabe N; Nakajima E; Adachi M; Mikawa M; Fukushima Y; Ikegawa S
Am J Med Genet A; 2003 Mar; 117A(2):147-53. PubMed ID: 12567412
[TBL] [Abstract][Full Text] [Related]
9. Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review.
Sulko J; Kozlowski K
J Pediatr Orthop B; 2008 Nov; 17(6):323-7. PubMed ID: 18841068
[TBL] [Abstract][Full Text] [Related]
10. Multiple joint dislocations: an additional skeletal finding in Lowry-Wood syndrome?
Magnani C; Tedesco SA; Dallaglio S; Sommi M; Bacchini E; Vetro A; Zuffardi O; Bevilacqua G
Am J Med Genet A; 2009 Feb; 149A(4):737-41. PubMed ID: 19288552
[TBL] [Abstract][Full Text] [Related]
11. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): clinical and radiological findings in a Guatemalan patient.
Bradburn JM; Hall BD
Am J Med Genet; 1995 Nov; 59(2):234-7. PubMed ID: 8588592
[TBL] [Abstract][Full Text] [Related]
12. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in three neonates.
Christianson AL; Beighton P
Genet Couns; 1996; 7(3):219-25. PubMed ID: 8897044
[TBL] [Abstract][Full Text] [Related]
13. Spondyloepimetaphyseal dysplasia with joint laxity type 2: Aggregating the literature and reporting on the life of a 66-year-old man.
Beke A; da Costa Silveira K; Athey T; Kannu P
Am J Med Genet C Semin Med Genet; 2023 Jun; 193(2):188-192. PubMed ID: 37226647
[TBL] [Abstract][Full Text] [Related]
14. Distinctive new form of spondyloepimetaphyseal dysplasia with severe metaphyseal changes similar to Jansen metaphyseal chondrodysplasia.
Al Kaissi A; Ghachem MB; Nessib N; Chehida FB; Hammou A; Kozlowski K
Australas Radiol; 2005 Feb; 49(1):57-62. PubMed ID: 15727611
[TBL] [Abstract][Full Text] [Related]
15. [A Dutch family with hereditary joint symptoms; multiple epiphyseal dysplasia].
van Mourik JB; Schaap C; Nollen AJ
Ned Tijdschr Geneeskd; 1993 Jan; 137(1):32-6. PubMed ID: 8419840
[TBL] [Abstract][Full Text] [Related]
16. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL).
Tsirikos AI; Mason DE; Scott CI; Chang WN
Am J Med Genet A; 2003 Jun; 119A(3):386-90. PubMed ID: 12784311
[TBL] [Abstract][Full Text] [Related]
17. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): presentation in two unrelated patients in the United States.
Smith W; Ji HP; Mouradian W; Pagon RA
Am J Med Genet; 1999 Sep; 86(3):245-52. PubMed ID: 10482874
[TBL] [Abstract][Full Text] [Related]
18. Spondyloepimetaphyseal dysplasia (SEMD) Shohat type.
Figuera LE; Ramírez-Dueñas ML; Gallegos-Arreola MP; Cantú JM
Am J Med Genet; 1994 Jul; 51(3):213-5. PubMed ID: 8074146
[TBL] [Abstract][Full Text] [Related]
19. Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.
Min BJ; Kim N; Chung T; Kim OH; Nishimura G; Chung CY; Song HR; Kim HW; Lee HR; Kim J; Kang TH; Seo ME; Yang SD; Kim DH; Lee SB; Kim JI; Seo JS; Choi JY; Kang D; Kim D; Park WY; Cho TJ
Am J Hum Genet; 2011 Dec; 89(6):760-6. PubMed ID: 22152677
[TBL] [Abstract][Full Text] [Related]
20. Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred.
Ahmad M; Faiyaz Ul Haque M; Ahmad W; Abbas H; Haque S; Krakow D; Rimoin DL; Lachman RS; Cohn DH
Am J Med Genet; 1998 Aug; 78(5):468-73. PubMed ID: 9714015
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
