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70 in total

1. A CASE OF THE SMITH-LEMLI-OPITZ SYNDROME OF MULTIPLE CONGENITAL ANOMALIES IN ASSOCIATION WITH DYSPLASIA EPIPHYSIALIS PUNCTATA.

Authors: R GIBSON
Journal: Can Med Assoc J Date: 1965-03-13 Impact factor: 8.262

2. CHONDRODYSTROPHIA CALCIFICANS CONGENITA; CHONDRODYSPLASIA EPIPHYSIALIS PUNCTATA, STIPPLED EPIPHYSES.

Authors: J C MELNICK
Journal: Am J Dis Child Date: 1965-08

3. Dysplasia epiphysialis punctata.

Authors: E THAMDRUP; B ZACHAU-CHRISTIANSEN
Journal: Acta Paediatr Date: 1962-09 Impact factor: 2.299

4. A hereditary factor in chondrodystrophia calcificans congenita.

Authors: F C FRASER; J B SCRIVER
Journal: N Engl J Med Date: 1954-02-18 Impact factor: 91.245

5. Chondrodystrophia calcificans congenita; report of a case.

Authors: E M SAVIGNAC
Journal: Radiology Date: 1952-03 Impact factor: 11.105

6. Chondrodystrophia calcificans congenita; report of two cases.

Authors: T H VINKE; F P DUFFY
Journal: J Bone Joint Surg Am Date: 1947-04 Impact factor: 5.284

7. Cerebro-hepato-renal syndrome of Zellweger.

Authors: J E Jan; D F Hardwick; R B Lowry; A Q McCormick
Journal: Am J Dis Child Date: 1970-03

8. Chondro-angiopathia calcarea seu punctata.

Authors: A Robertson
Journal: Australas Radiol Date: 1967-02

9. Skin manifestations of Conradi's disease. Chondrodystrophia congenita punctata.

Authors: E L Bodian
Journal: Arch Dermatol Date: 1966-12

10. [Cataract in chondrodystrophia calcificans congenita (Conradi-Hünermann syndrome)].

Authors: H J Thiel; H Manzke; H Gunschera
Journal: Klin Monbl Augenheilkd Date: 1969-04 Impact factor: 0.700

47 in total

1. Spondylo-epiphyseal dysplasia with ocular changes: report of two "new" variants in two different families.

Authors: J J MacDessi; K Kozlowski; S Posen
Journal: Pediatr Radiol Date: 1978-12-04

2. Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation.

Authors: H Traupe; D Müller; D Atherton; D C Kalter; F P Cremers; B A van Oost; H H Ropers
Journal: Hum Genet Date: 1992-08 Impact factor: 4.132

3. Vitreoretinal abnormalities in the Conradi-Hunermann form of chondrodysplasia punctata.

Authors: Y D Ramkissoon; E J Mayer; C Gibbon; R J Haynes
Journal: Br J Ophthalmol Date: 2004-07 Impact factor: 4.638

4. Antenatal diagnosis of rhizomelic chondrodysplasia punctata in the second trimester.

Authors: R G Gray; A Green; R B Schutgens; R J Wanders; P A Farndon; C R Kennedy
Journal: J Inherit Metab Dis Date: 1990 Impact factor: 4.982

Review 5. International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.

Authors: J Spranger
Journal: Eur J Pediatr Date: 1992-06 Impact factor: 3.183

6. Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of Zellweger: comparative pathology.

Authors: K W Gilchrist; E F Gilbert; S Goldfarb; U Goll; J W Spranger; J M Opitz
Journal: Eur J Pediatr Date: 1976-01-02 Impact factor: 3.183

7. Heterozygous expression of X-linked chondrodysplasia punctata. Complex chromosome aberration including deletion of MIC2 and STS.

Authors: D Wöhrle; G Barbi; W Schulz; P Steinbach
Journal: Hum Genet Date: 1990-12 Impact factor: 4.132

8. Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata.

Authors: L J Sheffield; A H Osborn; W M Hutchison; D O Sillence; S M Forrest; S J White; H H Dahl
Journal: J Med Genet Date: 1998-12 Impact factor: 6.318

Review 9. Stippled epiphyses in fetal alcohol syndrome.

Authors: A Leicher-Düber; R Schumacher; J Spranger
Journal: Pediatr Radiol Date: 1990

10. X-linked dominant chondrodysplasia punctata. Review of literature and report of a case.

Authors: R Happle
Journal: Hum Genet Date: 1979 Impact factor: 4.132