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Journal Abstract Search

187 related items for PubMed ID: 26043509

  • 1. Thanatophoric dysplasia type 1 with cloverleaf skull in a dichorionic twin.
    Salinas-Torres VM.
    Genet Couns; 2015; 26(1):61-5. PubMed ID: 26043509
    [Abstract] [Full Text] [Related]

  • 2. Thanatophoric dysplasia type I.
    Chang TK, Wang Y, Liu AM, Tung JC.
    Acta Paediatr Taiwan; 2001; 42(1):39-41. PubMed ID: 11270184
    [Abstract] [Full Text] [Related]

  • 3. [Description of a case of thanatophoric dysplasia with cloverleaf skull].
    Ronconi GF, Pesenti P, Mercurella A, Sassolino S.
    Pediatr Med Chir; 1986; 8(3):423-5. PubMed ID: 3786207
    [Abstract] [Full Text] [Related]

  • 4. Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: prenatal diagnosis, clinical and pathological findings.
    Machin GA.
    Am J Med Genet; 1992 Dec 01; 44(6):842-3. PubMed ID: 1481860
    [No Abstract] [Full Text] [Related]

  • 5. Cloverleaf skulls: etiologic heterogeneity and pathogenetic variability.
    Cohen MM.
    J Craniofac Surg; 2009 Mar 01; 20 Suppl 1():652-6. PubMed ID: 19293681
    [Abstract] [Full Text] [Related]

  • 6. Dysmorphic choroid plexuses and hydrocephalus associated with increased nuchal translucency: early ultrasound markers of de novo thanatophoric dysplasia type II with cloverleaf skull (Kleeblattschaedel).
    Tonni G, Palmisano M, Ginocchi V, Ventura A, Baldi M, Baffico AM.
    Congenit Anom (Kyoto); 2014 Nov 01; 54(4):228-32. PubMed ID: 24517215
    [Abstract] [Full Text] [Related]

  • 7. Brain malformation with loss of normal FGFR3 expression in thanatophoric dysplasia type I.
    Itoh K, Pooh R, Kanemura Y, Yamasaki M, Fushiki S.
    Neuropathology; 2013 Dec 01; 33(6):663-6. PubMed ID: 23551494
    [Abstract] [Full Text] [Related]

  • 8. [Cloverleaf skull deformity with thanatophoric dysplasia in the 24th week of pregnancy].
    Habeck JO, Müller D.
    Anat Anz; 1986 Dec 01; 161(1):27-34. PubMed ID: 3085547
    [Abstract] [Full Text] [Related]

  • 9. Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II.
    Chen CP, Chang TY, Lin MH, Chern SR, Su JW, Wang W.
    Taiwan J Obstet Gynecol; 2013 Sep 01; 52(3):420-5. PubMed ID: 24075385
    [Abstract] [Full Text] [Related]

  • 10. Thanatophoric dysplasia type 1 with temporal lobe dysplasia: Report of a case along with differential diagnosis.
    Mondal A, Mandal B, Das RN, Chatterjee U, Mukherjee S.
    Indian J Pathol Microbiol; 2021 Sep 01; 64(4):776-779. PubMed ID: 34673602
    [Abstract] [Full Text] [Related]

  • 11. A case of thanatophoric dysplasia type 2: a novel mutation.
    Gülaşı S, Atıcı A, Çelik Y.
    J Clin Res Pediatr Endocrinol; 2015 Mar 01; 7(1):73-6. PubMed ID: 25800480
    [Abstract] [Full Text] [Related]

  • 12. Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: prenatal diagnosis, clinical and pathological findings.
    Corsello G, Maresi E, Rossi C, Giuffrè L, Cittadini E.
    Am J Med Genet; 1992 Jan 01; 42(1):122-6. PubMed ID: 1308351
    [Abstract] [Full Text] [Related]

  • 13. A THANATOPHORIC DYSPLASIA TYPE I CASE WITH A FGFR3 P.R248C MUTATION AND SURVIVAL BEYOND THE NEONATAL PERIOD.
    Sahin S, Ograg H, Aslan EA, Akcan AB, Turkmen MK, Moosa S, Elcioglu NH.
    Genet Couns; 2016 Jan 01; 27(4):513-517. PubMed ID: 30226972
    [Abstract] [Full Text] [Related]

  • 14. Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation.
    Jung M, Park SH.
    Exp Mol Pathol; 2017 Apr 01; 102(2):290-295. PubMed ID: 28249712
    [Abstract] [Full Text] [Related]

  • 15.
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    [No Abstract] [Full Text] [Related]

  • 16. Thanatophoric dysplasia and cloverleaf skull.
    Langer LO, Yang SS, Hall JG, Sommer A, Kottamasu SR, Golabi M, Krassikoff N.
    Am J Med Genet Suppl; 1987 Apr 01; 3():167-79. PubMed ID: 3130852
    [Abstract] [Full Text] [Related]

  • 17. Cloverleaf skull with generalised bone dysplasia. Report of a case with short review of the literature.
    Kozlowski K, Warren PS, Fisher CC.
    Pediatr Radiol; 1985 Apr 01; 15(6):412-4. PubMed ID: 4058967
    [Abstract] [Full Text] [Related]

  • 18. [Thanatophoric dysplasia: report of 2 cases with neuropathological study].
    Noronha L, Prevedello LM, Maggio EM, Serapiao MJ, Torres LF.
    Arq Neuropsiquiatr; 2002 Mar 01; 60(1):133-7. PubMed ID: 11965423
    [Abstract] [Full Text] [Related]

  • 19. Thanatophoric dysplasia: roentgenographic findings and detection of a de novo mutation of FGFR3 gene in a Thai patient.
    Wattanasirichaigoon D, Charoenpipop D.
    J Med Assoc Thai; 2006 Aug 01; 89(8):1287-92. PubMed ID: 17048442
    [Abstract] [Full Text] [Related]

  • 20. [Cloverleaf skull. Description of 4 cases].
    Camera G, Clerici Bagozzi D, Salmoiraghi MG, Lezzi GB, Russo R, D'Armiento A, Mastroiacovo P.
    Pathologica; 1988 Aug 01; 80(1068):459-67. PubMed ID: 3244486
    [No Abstract] [Full Text] [Related]

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