Literature DB >> 4204337

Thanatophoric dwarfism.

K Shah, R Astley, A H Cameron.   

Abstract

Mesh：

Year:  1973        PMID： 4204337      PMCID： PMC1013027          DOI： 10.1136/jmg.10.3.243

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  5 in total

1.  Thanatophoric dwarfism. A condition confused with achondroplasia in the neonate, with brief comments on achondrogenesis and homozygous achondroplasia.

Authors:  L O Langer; J W Spranger; I Greinacher; R C Herdman
Journal:  Radiology       Date:  1969-02       Impact factor: 11.105

2.  Cloverleaf skull and thanatophoric dwarfism. Report of four cases, two in the same sibship.

Authors:  M W Partington; F Gonzales-Crussi; S G Khakee; D G Wollin
Journal:  Arch Dis Child       Date:  1971-10       Impact factor: 3.791

3.  Thanatophoric dwarfism.

Authors:  K Kozlowski; E Prokop; J Zybaczynski
Journal:  Br J Radiol       Date:  1970-08       Impact factor: 3.039

4.  Thanatophoric dwarfism.

Authors:  R L Kaufman; D L Rimoin; W H McAlister; J M Kissane
Journal:  Am J Dis Child       Date:  1970-07

5.  [Thanatophoric dwarfism].

Authors:  P Maroteaux; M Lamy; J M Robert
Journal:  Presse Med       Date:  1967-11-22       Impact factor: 1.228
  5 in total
  10 in total

1.  Long survival in thanatophoric dwarfism.

Authors:  D H Moir; K Kozlowski
Journal:  Pediatr Radiol       Date:  1976-12-15

2.  Micromelic bone dysplasia with cloverleaf skull.

Authors:  P E Andersen; K Kock
Journal:  Skeletal Radiol       Date:  1989       Impact factor: 2.199

3.  Cerebral abnormalities in thanatophoric dysplasia.

Authors:  C L Coulter; R W Leech; R A Brumback; G B Schaefer
Journal:  Childs Nerv Syst       Date:  1991-02       Impact factor: 1.475

4.  Neuropathologic findings in thanatophoric dysplasia.

Authors:  K L Ho; C H Chang; S S Yang; J L Chason
Journal:  Acta Neuropathol       Date:  1984       Impact factor: 17.088

5.  Cloverleaf skull with generalised bone dysplasia. Report of a case with short review of the literature.

Authors:  K Kozlowski; P S Warren; C C Fisher
Journal:  Pediatr Radiol       Date:  1985

6.  FGF signaling inhibits chondrocyte proliferation and regulates bone development through the STAT-1 pathway.

Authors:  M Sahni; D C Ambrosetti; A Mansukhani; R Gertner; D Levy; C Basilico
Journal:  Genes Dev       Date:  1999-06-01       Impact factor: 11.361

7.  Profound ligand-independent kinase activation of fibroblast growth factor receptor 3 by the activation loop mutation responsible for a lethal skeletal dysplasia, thanatophoric dysplasia type II.

Authors:  M K Webster; P Y D'Avis; S C Robertson; D J Donoghue
Journal:  Mol Cell Biol       Date:  1996-08       Impact factor: 4.272

8.  Thanatophoric dysplasia with cloverleaf-skull. Case report and review of the literature.

Authors:  B Kremens; H Kemperdick; F Borchard; U G Liebert
Journal:  Eur J Pediatr       Date:  1982-12       Impact factor: 3.183

9.  Achondroplasia in the Premature Infant: An Elusive Diagnosis in the Neonatal Intensive Care Unit.

Authors:  Kimberly E Fagen; Anna R Blask; Eva I Rubio; Dorothy I Bulas
Journal:  AJP Rep       Date:  2017-01

10.  Thanatophoric Dysplasia: A Report of 2 Cases with Antenatal Misdiagnosis.

Authors:  Lamidi Audu; Amina Gambo; Tokan Silas Baduku; Bilkisu Farouk; Anisa Yahaya; Kefas Jacob
Journal:  Case Rep Pediatr       Date:  2022-09-28
  10 in total

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