Literature DB >> 5058513

Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomalies.

R M Saldino, C D Noonan.   

Abstract

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Year:  1972        PMID: 5058513     DOI: 10.2214/ajr.114.2.257

Source DB:  PubMed          Journal:  Am J Roentgenol Radium Ther Nucl Med        ISSN: 0002-9580


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  20 in total

Review 1.  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

2.  Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.

Authors:  N Badiner; S P Taylor; K Forlenza; R S Lachman; M Bamshad; D Nickerson; D H Cohn; D Krakow
Journal:  Clin Genet       Date:  2017-03-13       Impact factor: 4.438

3.  Perinatally lethal short rib-polydactyly syndromes. 1. Variability in known syndromes.

Authors:  D Sillence; K Kozlowski; J Bar-ziv; A Fuhrumann-Rieger; W Fuhrmann; F Pascu
Journal:  Pediatr Radiol       Date:  1987

4.  Achondrogenesis within the scope of connately manifested generalized skeletal dysplasias.

Authors:  H R Wiedemann; W Remagen; H A Hienz; R J Gorlin; P Maroteaux
Journal:  Z Kinderheilkd       Date:  1974

5.  Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan.

Authors:  J Spranger; B Grimm; M Weller; G Weissenbacher; J Herrmann; E Gilbert; R Krepler
Journal:  Z Kinderheilkd       Date:  1974-01-17

6.  Oral abnormalities in the Saldino-Noonan syndrome.

Authors:  H Strømme Koppang; H Boman; P S Hoel
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1983

7.  Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum.

Authors:  M L Martínez-Frías; E Bermejo; M Urioste; H Huertas; I Arroyo
Journal:  J Med Genet       Date:  1993-11       Impact factor: 6.318

8.  Short rib polydactyly syndrome-Type I.

Authors:  S Sridhar; Ravi Kishore; Niranjan Thomas; Atanu Kumar Jana
Journal:  Indian J Pediatr       Date:  2004-04       Impact factor: 1.967

9.  Prenatal diagnosis of a short-rib-polydactylia syndrome type Saldino-Noonan at 17 weeks' gestation.

Authors:  W Grote; D Weisner; U Jänig; D Harms; H R Wiedemann
Journal:  Eur J Pediatr       Date:  1983-03       Impact factor: 3.183

10.  Chondrodysplasia punctata--rhizomelic form. Pathologic and radiologic studies of three infants.

Authors:  E F Gilbert; J M Opitz; J W Spranger; L O Langer; J J Wolfson; C Viseskul
Journal:  Eur J Pediatr       Date:  1976-09-01       Impact factor: 3.183

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