Literature DB >> 14159881

A NEW TYPE OF DWARFISM WITH VARIOUS BONE APLASIAS AND HYPOPLASIAS OF THE EXTREMITIES.

A QUELCE-SALGADO.   

Abstract

Entities:  

Keywords:  ABNORMALITIES; BONE AND BONES; BRAZIL; CAUCASIAN RACE; DWARFISM; EXTREMITIES; GENETICS, HUMAN; HAND DEFORMITIES; NEGROES

Mesh：

Year:  1964        PMID： 14159881     DOI： 10.1159/000151832

Source DB:  PubMed          Journal:  Acta Genet Stat Med        ISSN： 0567-7440


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  11 in total

1.  Genetic services and testing in Brazil.

Authors:  Dafne Dain Gandelman Horovitz; Victor Evangelista de Faria Ferraz; Sulamis Dain; Antonia Paula Marques-de-Faria
Journal:  J Community Genet       Date:  2012-05-05

2.  Grebe dysplasia - prenatal diagnosis based on rendered 3-D ultrasound images of fetal limbs.

Authors:  Luis F Goncalves; Julie A Berger; Jacqueline K Macknis; Samuel T Bauer; David A Bloom
Journal:  Pediatr Radiol       Date:  2016-09-27

3.  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

4.  Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity?

Authors:  R S Wadia; D B Shirole; M S Dikshit
Journal:  J Med Genet       Date:  1978-04       Impact factor: 6.318

5.  A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type.

Authors:  L O Langer; J Cervenka; M Camargo
Journal:  Hum Genet       Date:  1989-03       Impact factor: 4.132

6.  Acromesomelic dwarfism: description of a patient and comparison with previously reported cases.

Authors:  A G Hunter; M W Thompson
Journal:  Hum Genet       Date:  1976-09-10       Impact factor: 4.132

7.  Severe short-limb dwarfism resembling Grebe chondrodysplasia.

Authors:  A S Teebi; S A Al-Awadi; J M Opitz; J Spranger
Journal:  Hum Genet       Date:  1986-12       Impact factor: 4.132

8.  Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5.

Authors:  Muhammad Faiyaz-Ul-Haque; Eissa A Faqeih; Hamad Al-Zaidan; Amal Al-Shammary; Syed H E Zaidi
Journal:  J Bone Miner Metab       Date:  2008-11-01       Impact factor: 2.626

9.  Morphologic studies in the skeletal dysplasias.

Authors:  D O Sillence; W A Horton; D L Rimoin
Journal:  Am J Pathol       Date:  1979-09       Impact factor: 4.307

10.  Nonexpression of cartilage type II collagen in a case of Langer-Saldino achondrogenesis.

Authors:  D R Eyre; M P Upton; F D Shapiro; R H Wilkinson; G F Vawter
Journal:  Am J Hum Genet       Date:  1986-07       Impact factor: 11.025
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