134 related articles for article (PubMed ID: 14629506)
1. Desbuquois syndrome: clinical and radiological report of the first two Chinese cases from a consanguineous family.
Lam WF; Chan HB; Sillence DO
J Paediatr Child Health; 2003 Dec; 39(9):707-12. PubMed ID: 14629506
[TBL] [Abstract][Full Text] [Related]
2. Sib pair with previously unreported skeletal dysplasia.
Mégarbané A; Dagher R; Melki I
Am J Med Genet A; 2008 Nov; 146A(22):2916-9. PubMed ID: 18925669
[TBL] [Abstract][Full Text] [Related]
3. Beyond osteogenesis imperfecta: Causes of fractures during infancy and childhood.
Bronicki LM; Stevenson RE; Spranger JW
Am J Med Genet C Semin Med Genet; 2015 Dec; 169(4):314-27. PubMed ID: 26531771
[TBL] [Abstract][Full Text] [Related]
4. A mild variant of Desbuquois dysplasia.
Nishimura G; Hong HS; Kawame H; Sato S; Cai G; Ozono K
Eur J Pediatr; 1999 Jun; 158(6):479-83. PubMed ID: 10378396
[TBL] [Abstract][Full Text] [Related]
5. A new skeletal dysplasia syndrome with dwarfism, craniofacial anomalies, and unique radiographic findings.
Jones KL; Jones KL; Miller K
Am J Med Genet; 1986 Mar; 23(3):751-7. PubMed ID: 2420178
[TBL] [Abstract][Full Text] [Related]
6. A novel syndrome resembling Desbuquois dysplasia.
Al Kaissi A; Nessib N; Ghachem MB; Hammou A; Guiddana N; Kozlowski K
Am J Med Genet A; 2005 Jan; 132A(1):68-75. PubMed ID: 15558723
[TBL] [Abstract][Full Text] [Related]
7. A new skeletal dysplasia: clinical, radiologic, and pathologic findings.
Burton BK; Sumner T; Langer LO; Rimoin DL; Adomian GE; Lachman RS; Nicastro JF; Kelly DL; Weaver RG
J Pediatr; 1986 Oct; 109(4):642-8. PubMed ID: 3761078
[TBL] [Abstract][Full Text] [Related]
8. Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.
Faden M; AlZahrani F; Mendoza-Londono R; Dupuis L; Hartley T; Kannu P; Raiman JA; Howard A; Qin W; Tetreault M; Xi JQ; Al-Thamer I; ; Maas RL; Boycott K; Alkuraya FS
Am J Hum Genet; 2015 Oct; 97(4):608-15. PubMed ID: 26365341
[TBL] [Abstract][Full Text] [Related]
9. Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.
Royer-Bertrand B; Castillo-Taucher S; Moreno-Salinas R; Cho TJ; Chae JH; Choi M; Kim OH; Dikoglu E; Campos-Xavier B; Girardi E; Superti-Furga G; Bonafé L; Rivolta C; Unger S; Superti-Furga A
Sci Rep; 2015 Nov; 5():17154. PubMed ID: 26598328
[TBL] [Abstract][Full Text] [Related]
10. Larsen syndrome in siblings with consanguineous parents.
Topley JM; Varady E; Lestringant GG
Clin Dysmorphol; 1994 Jul; 3(3):263-5. PubMed ID: 7526939
[TBL] [Abstract][Full Text] [Related]
11. Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype.
von Oettingen JE; Tan WH; Dauber A
Am J Med Genet A; 2014 Jun; 164A(6):1580-6. PubMed ID: 24668659
[TBL] [Abstract][Full Text] [Related]
12. Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature.
Siccha SM; Cueto AM; Parrón-Pajares M; González-Morán G; Pacio-Miguez M; Del Pozo Á; Solís M; Rodriguez-Jimenez C; Caino S; Fano V; Heath KE; García-Miñaúr S; Palomares-Bralo M; Santos-Simarro F
Am J Med Genet A; 2021 Mar; 185(3):856-865. PubMed ID: 33305909
[TBL] [Abstract][Full Text] [Related]
13. A case of skeletal dysplasia with advanced carpal ossification and "monkey wrench" appearance of the femora: mild Desbuquois dysplasia?
Nishimura G; Sato S; Ogata T; Tamai S; Hasegawa T; Matsuo N
Eur J Pediatr; 1996 Dec; 155(12):1040-2. PubMed ID: 8956941
[TBL] [Abstract][Full Text] [Related]
14. Radiographic features of craniometadiaphyseal dysplasia, wormian bone type.
Langer LO; Brill PW; Afshani E; Williams CA; Thomas IT; Frias JL
Skeletal Radiol; 1991; 20(1):37-41. PubMed ID: 2000503
[TBL] [Abstract][Full Text] [Related]
15. Desbuquois syndrome in an Arab Bedouin family.
al-Gazeli LI; Aziz SA; Bakalinova D
Clin Genet; 1996 Oct; 50(4):255-9. PubMed ID: 9001812
[TBL] [Abstract][Full Text] [Related]
16. A further case of opsismodysplasia with hydrocephalus.
Ramos FJ; González JP; Cortabarria C; Domenech E; Pérez-González J; Bueno M
Eur J Med Genet; 2006; 49(1):93-100. PubMed ID: 16473316
[TBL] [Abstract][Full Text] [Related]
17. New autosomal recessive syndrome of mental retardation, epilepsy, short stature, and skeletal dysplasia.
Gurrieri F; Sammito V; Bellussi A; Neri G
Am J Med Genet; 1992 Oct; 44(3):315-20. PubMed ID: 1488978
[No Abstract] [Full Text] [Related]
18. 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]
19. A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion.
Kim HJ; Cho E; Park JB; Im WY; Kim HJ
Eur J Med Genet; 2015 Feb; 58(2):86-94. PubMed ID: 25464108
[TBL] [Abstract][Full Text] [Related]
20. Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndrome.
Kannu P; Oei P; Slater HR; Khammy O; Aftimos S
Am J Med Genet A; 2006 Sep; 140(18):1955-9. PubMed ID: 16906570
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
