216 related articles for article (PubMed ID: 12589493)
21. Spondylo-meta-epiphyseal dysplasia, short limb, abnormal calcification type.
al-Gazali LI; Bakalinova D; Sztriha L
Clin Dysmorphol; 1996 Jul; 5(3):197-206. PubMed ID: 8818447
[TBL] [Abstract][Full Text] [Related]
22. Spondylo-metaphyseal dysplasia Algerian type: confirmation of a new syndrome.
Rybak M; Foley TP; Kozlowski K
Am J Med Genet; 1991 Sep; 40(3):304-6. PubMed ID: 1951433
[TBL] [Abstract][Full Text] [Related]
23. A distinct subtype of "metatropic dysplasia variant" characterised by advanced carpal skeletal age and subluxation of the radial heads.
Nishimura G; Satoh M; Aihara T; Aida N; Yamamoto T; Ozono K
Pediatr Radiol; 1998 Feb; 28(2):120-5. PubMed ID: 9472061
[TBL] [Abstract][Full Text] [Related]
24. Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification.
Ürel-Demir G; Simsek-Kiper PO; Akgün-Doğan Ö; Göçmen R; Wang Z; Matsumoto N; Miyake N; Utine GE; Nishimura G; Ikegawa S; Boduroglu K
J Hum Genet; 2018 Sep; 63(9):1003-1007. PubMed ID: 29884795
[TBL] [Abstract][Full Text] [Related]
25. Early diagnosis of multiple epiphyseal dysplasia.
Ingram RR
J Pediatr Orthop; 1992; 12(2):241-4. PubMed ID: 1552030
[TBL] [Abstract][Full Text] [Related]
26. Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
Nishimura G; Dai J; Lausch E; Unger S; Megarbané A; Kitoh H; Kim OH; Cho TJ; Bedeschi F; Benedicenti F; Mendoza-Londono R; Silengo M; Schmidt-Rimpler M; Spranger J; Zabel B; Ikegawa S; Superti-Furga A
Am J Med Genet A; 2010 Jun; 152A(6):1443-9. PubMed ID: 20503319
[TBL] [Abstract][Full Text] [Related]
27. The value of perinatal post-mortem radiography. Experience of 514 cases.
Seppänen U
Ann Clin Res; 1985; 17 Suppl 44():1-59. PubMed ID: 3159330
[TBL] [Abstract][Full Text] [Related]
28. An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature.
Menger H; Mundlos S; Becker K; Spranger J; Zabel B
Am J Med Genet; 1996 May; 63(1):80-3. PubMed ID: 8723091
[TBL] [Abstract][Full Text] [Related]
29. Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology.
Borochowitz Z; Langer LO; Gruber HE; Lachman R; Katznelson MB; Rimoin DL
Am J Med Genet; 1993 Feb; 45(3):320-6. PubMed ID: 8434618
[TBL] [Abstract][Full Text] [Related]
30. Prevalence of lethal osteochondrodysplasias in Denmark.
Andersen PE
Am J Med Genet; 1989 Apr; 32(4):484-9. PubMed ID: 2789000
[TBL] [Abstract][Full Text] [Related]
31. Metatropic Dysplasia of Nonlethal Variant in a Chinese Child - A Case Report.
Tchio Tchoumba MA; Bai Y; Jin R; Yu X; Male M
Orthop Surg; 2020 Feb; 12(1):333-336. PubMed ID: 31808622
[TBL] [Abstract][Full Text] [Related]
32. Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD.
Borochowitz ZU; Scheffer D; Adir V; Dagoneau N; Munnich A; Cormier-Daire V
J Med Genet; 2004 May; 41(5):366-72. PubMed ID: 15121775
[No Abstract] [Full Text] [Related]
33. Morphologic observations in a case of lethal variant (type I) metatropic dysplasia with atypical features: morphology of lethal metatropic dysplasia.
O'Sullivan MJ; McAllister WH; Ball RH; Teitelbaum SL; Swanson PE; Dehner LP
Pediatr Dev Pathol; 1998; 1(5):405-12. PubMed ID: 10507892
[TBL] [Abstract][Full Text] [Related]
34. The time of onset of abnormal calcification in spondylometaepiphyseal dysplasia, short limb-abnormal calcification type.
Tüysüz B; Gazioğlu N; Ungür S; Aji DY; Türkmen S
Pediatr Radiol; 2009 Jan; 39(1):84-9. PubMed ID: 19002453
[TBL] [Abstract][Full Text] [Related]
35. Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia.
Simon M; Campos-Xavier AB; Mittaz-Crettol L; Valadares ER; Carvalho D; Speck-Martins CE; Nampoothiri S; Alanay Y; Mihci E; van Bever Y; Garcia-Segarra N; Cavalcanti D; Mortier G; Bonafé L; Superti-Furga A
Am J Med Genet C Semin Med Genet; 2012 Aug; 160C(3):230-7. PubMed ID: 22791571
[TBL] [Abstract][Full Text] [Related]
36. Desbuquois dysplasia, a reevaluation with abnormal and "normal" hands: radiographic manifestations.
Faivre L; Cormier-Daire V; Eliott AM; Field F; Munnich A; Maroteaux P; Le Merrer M; Lachman R
Am J Med Genet A; 2004 Jan; 124A(1):48-53. PubMed ID: 14679586
[TBL] [Abstract][Full Text] [Related]
37. Radiological changes of frontometaphyseal dysplasia in the neonate.
Nishimura G; Takano H; Aihara T; Ohashi H; Fukushima Y; Satoh M
Pediatr Radiol; 1995 Nov; 25 Suppl 1():S143-6. PubMed ID: 8577509
[TBL] [Abstract][Full Text] [Related]
38. Metaphyseal anadysplasia type II: a new regressive metaphyseal dysplasia.
Le Merrer M; Maroteaux P
Pediatr Radiol; 1998 Oct; 28(10):771-5. PubMed ID: 9799299
[TBL] [Abstract][Full Text] [Related]
39. An unusual form of spondyloepiphyseal dysplasia, with advanced carpal and spinal end-plate ossification mimicking COMP-mutation-like multiple epiphyseal dysplasia.
Pazzaglia UE; Beluffi G; Zarattini G
Pediatr Radiol; 2008 Jul; 38(7):783-7. PubMed ID: 18338162
[TBL] [Abstract][Full Text] [Related]
40. The variable manifestations of dysplasia epiphysealis hemimelica.
Azouz EM; Slomic AM; Marton D; Rigault P; Finidori G
Pediatr Radiol; 1985; 15(1):44-9. PubMed ID: 3969295
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]