Literature DB >> 4761063

Cartilage hair hypoplasia.

C B Boothby, B D Bower.   

Abstract

Entities:  

Mesh：

Year:  1973        PMID： 4761063      PMCID： PMC1648635          DOI： 10.1136/adc.48.11.918

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


× No keyword cloud information.
  7 in total

1.  METAPHYSEAL DYSOSTOSIS AND THIN HAIR: A "NEW" RECESSIVELY INHERITED SYNDROME?

Authors:  V A MCKUSICK
Journal:  Lancet       Date:  1964-04-11       Impact factor: 79.321

2.  DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA.

Authors:  V A MCKUSICK; R ELDRIDGE; J A HOSTETLER; U RUANGWIT; J A EGELAND
Journal:  Bull Johns Hopkins Hosp       Date:  1965-05

3.  Chronic neutropenia and abnormal cellular immunity in cartilage-hair hypoplasia.

Authors:  S E Lux; R B Johnston; C S August; B Say; V B Penchaszadeh; F S Rosen; V A McKusick
Journal:  N Engl J Med       Date:  1970-01-29       Impact factor: 91.245

4.  Metaphyseal dysplasia in siblings: a variant of cartilage-hair hypoplasia.

Authors:  M O Savage
Journal:  Proc R Soc Med       Date:  1972-08

5.  Abnormality of the hair in cartilage-hair hypoplasia.

Authors:  R L Coupe; R B Lowry
Journal:  Dermatologica       Date:  1970

6.  Association of pancreatic insufficiency and chronic neutropenia in childhood.

Authors:  V Burke; J H Colebatch; C M Anderson; M J Simons
Journal:  Arch Dis Child       Date:  1967-04       Impact factor: 3.791

7.  Cartilage-hair hypoplasia (CHH) variant of familial metaphyseal dysostosis.

Authors:  G A Irwin
Journal:  Radiology       Date:  1966-05       Impact factor: 11.105
  7 in total
  6 in total

1.  A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus.

Authors:  A Bottani; Y G Xie; F Binkert; A Schinzel
Journal:  Hum Genet       Date:  1991-10       Impact factor: 4.132

2.  Cartilage hair hypoplasia.

Authors:  D C Siggers; J B Burke; B Morris; I C Normand; J M Tanner; D A Williamson
Journal:  Postgrad Med J       Date:  1977-08       Impact factor: 2.401

3.  Skeletal growth in cartilage-hair hypoplasia. A radiological study of 82 patients.

Authors:  O Mäkitie; E Marttinen; I Kaitila
Journal:  Pediatr Radiol       Date:  1992

4.  Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients.

Authors:  O Mäkitie; I Kaitila
Journal:  Eur J Pediatr       Date:  1993-03       Impact factor: 3.183

5.  Cartilage hair hypoplasia: characteristics and orthopaedic manifestations.

Authors:  Patrick Riley; Dennis S Weiner; Bonnie Leighley; David Jonah; D Holmes Morton; Kevin A Strauss; Michael B Bober; Martin S Dicintio
Journal:  J Child Orthop       Date:  2015-03-13       Impact factor: 1.548

Review 6.  Ribosomopathies: Global process, tissue specific defects.

Authors:  Pamela C Yelick; Paul A Trainor
Journal:  Rare Dis       Date:  2015-04-01
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.