Literature DB >> 27407916

Jeune Syndrome.

P L Prasad1, A N Prasad2.   

Abstract

Keywords:  Jeune syndrome; skeletal dysplasia

Year:  2011        PMID： 27407916      PMCID： PMC4922868          DOI： 10.1016/S0377-1237(06)80028-6

Source DB:  PubMed          Journal:  Med J Armed Forces India        ISSN： 0377-1237


× No keyword cloud information.
  5 in total

1.  Familial asphyxiating thoracic dysplasia: clinical variability and impact of improved neonatal intensive care.

Authors:  E Kajantie; S Andersson; I Kaitila
Journal:  J Pediatr       Date:  2001-07       Impact factor: 4.406

2.  Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes.

Authors:  D Krakow; D Salazar; W R Wilcox; D L Rimoin; D H Cohn
Journal:  Eur J Hum Genet       Date:  2000-08       Impact factor: 4.246

3.  Fetal thoracic measurements in prenatal diagnosis of Jeune syndrome.

Authors:  Bibhuti B Das; Anasuya Nagaraj; Ayodeji Fayemi; Benamanahalli K Rajegowda; Philip F Giampietro
Journal:  Indian J Pediatr       Date:  2002-01       Impact factor: 1.967

4.  Visual loss as the presenting sign of Jeune syndrome.

Authors:  I Casteels; E Demandt; E Legius
Journal:  Eur J Paediatr Neurol       Date:  2000       Impact factor: 3.140

5.  A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13.

Authors:  N V Morgan; C Bacchelli; P Gissen; J Morton; G B Ferrero; M Silengo; P Labrune; I Casteels; C Hall; P Cox; D A Kelly; R C Trembath; P J Scambler; E R Maher; F R Goodman; C A Johnson
Journal:  J Med Genet       Date:  2003-06       Impact factor: 6.318
  5 in total
  1 in total

1.  Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias.

Authors:  Agnieszka Stembalska; Małgorzata Rydzanicz; Magdalena Klaniewska; Lech Dudarewicz; Agnieszka Pollak; Mateusz Biela; Piotr Stawinski; Rafal Ploski; Robert Smigiel
Journal:  Genes (Basel)       Date:  2022-07-27       Impact factor: 4.141
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.