Literature DB >> 5098065

Asphyxiating thoracic chondrodystrophy. Association with renal disease and evidence for possile heterozygous expression.

M H Shokeir, C S Houston, C F Awen.   

Abstract

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Mesh：

Year:  1971        PMID： 5098065      PMCID： PMC1468975          DOI： 10.1136/jmg.8.1.107

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  9 in total

1.  [Clinical considerations on a case of polychondrodystrophy].

Authors:  A BALOCCO; E ZORATTO
Journal:  Minerva Pediatr       Date:  1960-12-08       Impact factor: 1.312

2.  PATHOGENESIS OF POLYCYSTIC KIDNEYS. HISTORICAL SURVEY.

Authors:  V OSATHANONDH; E L POTTER
Journal:  Arch Pathol       Date:  1964-05

3.  [ASPHYXIATING THROACIC DYSTROPHY. RADIOLOGICAL STUDY AND RELATION TO THE ELLIS-VAN CREVELD SYNDROME].

Authors:  P MAROTEAUX; P SAVART
Journal:  Ann Radiol (Paris)       Date:  1964

4.  [Asphyxiating thoracic dystrophy in the infant].

Authors:  N NEIMANN; M MANXIAUX; G RAUBER; C PERNOT; M C BRETAGNE-DE-KERSAUSON
Journal:  Pediatrie       Date:  1963

5.  [Case of polyepiphysial, endochondral dystrophy in a newborn infant with fatal involvement of the respiratory function].

Authors:  P N DE SARIO; G S MARCHESE
Journal:  Minerva Pediatr       Date:  1956-11-17       Impact factor: 1.312

6.  [Polychondrodystrophy with fatal throacic blockage].

Authors:  M JEUNE; R CARRON; C BERAUD; Y LOAEC
Journal:  Pediatrie       Date:  1954

7.  The thoracic asphyxiant dystrophy and renal disease.

Authors:  R C Herdman; L O Langer
Journal:  Am J Dis Child       Date:  1968-08

8.  Infantile thoracic dystrophy--a variant of Ellis-Van Creveld syndrome.

Authors:  A S Hanissian; W W Riggs; D A Thomas
Journal:  J Pediatr       Date:  1967-12       Impact factor: 4.406

9.  Asphyxiating thoracic dystrophy of the newborn.

Authors:  T Pirnar; E B Neuhauser
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1966-10
  9 in total
  8 in total

1.  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

2.  The differential diagnosis of the short-limbed dwarfs presenting at birth.

Authors:  R N Mukherji; P D Moss
Journal:  Postgrad Med J       Date:  1977-04       Impact factor: 2.401

3.  Familial juvenile nephronophthisis, Jeune's syndrome, and associated disorders.

Authors:  M D Donaldson; A A Warner; R S Trompeter; G B Haycock; C Chantler
Journal:  Arch Dis Child       Date:  1985-05       Impact factor: 3.791

Review 4.  Glomerulocystic kidney disease--nosological considerations.

Authors:  J Bernstein
Journal:  Pediatr Nephrol       Date:  1993-08       Impact factor: 3.714

5.  Necropsy findings in neonatal asphyxiating thoracic dystrophy.

Authors:  S B Turkel; E J Diehl; J A Richmond
Journal:  J Med Genet       Date:  1985-04       Impact factor: 6.318

6.  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

7.  Is Asphyxiating Thoracic Dystrophy (Jeune's Syndrome) Deadly and Should We Insist on Treating It? Reconstructive Surgery "On Demand".

Authors:  Rosen Stanchev Drebov; Atanas Katsarov; Emiliyan Gagov; Nia Atanasova; Zlatin Penev; Alexander Iliev
Journal:  Surg J (N Y)       Date:  2017-02-17

8.  Loss of cilia causes embryonic lung hypoplasia, liver fibrosis, and cholestasis in the talpid3 ciliopathy mutant.

Authors:  Megan G Davey; Lynn McTeir; Andrew M Barrie; Lucy J Freem; Louise A Stephen
Journal:  Organogenesis       Date:  2014-04-17       Impact factor: 2.500
  8 in total

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