Literature DB >> 4999589

Polycystic kidneys associated with malformations of the brain, polydactyly, and other birth defects in newborn sibs. A lethal syndrome showing the autosomal-recessive pattern of inheritance.

K Fried, E Liban, M Lurie, S Friedman, S H Reisner.   

Abstract

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Year:  1971        PMID： 4999589      PMCID： PMC1469174          DOI： 10.1136/jmg.8.3.285

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


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  2 in total

1.  [Familial polydactyly with neuro-cranial dysplasia].

Authors:  R Walbaum; P Dehaene; F Duthoit
Journal:  Ann Genet       Date:  1967-03

2.  Polycystic kidneys, internal hydrocephalus and polydactylism in newborn siblings.

Authors:  A P Simopoulos; G G Brennan; A Alwan; N Fidis
Journal:  Pediatrics       Date:  1967-06       Impact factor: 7.124
  2 in total
  13 in total

1.  Warburg (HARD +/- E) syndrome without retinal dysplasia: case report and review.

Authors:  M F Attia; J Burn; J H McCarthy; D P Purohit; D W Milligan
Journal:  Br J Ophthalmol       Date:  1986-10       Impact factor: 4.638

2.  The Meckel syndrome in an Irish population: a post mortem study.

Authors:  C Keohane; C Cullinane; F Brett
Journal:  Ir J Med Sci       Date:  1988-12       Impact factor: 1.568

3.  The Meckel Syndrome. Pathological and cytogenetic observations in eight cases.

Authors:  P Moerman; E Verbeken; J P Fryns; P Goddeeris; J M Lauweryns
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

4.  Are bowing of long tubular bones and preaxial polydactyly signs of the Meckel syndrome?

Authors:  F Majewski; H Stöss; T Goecke; H Kemperdick
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

5.  Prenatal diagnosis of a neural tube defect: Meckel syndrome.

Authors:  M J Seller
Journal:  J Med Genet       Date:  1975-03       Impact factor: 6.318

6.  Meckel's syndrome (dysencephalia splanchno-cystica) in two Pakistani sibs.

Authors:  P Jackson; H G Kohler
Journal:  J Med Genet       Date:  1978-06       Impact factor: 6.318

7.  Joubert-Boltshauser syndrome with polydactyly in siblings.

Authors:  J Egger; M H Bellman; E M Ross; M Baraitser
Journal:  J Neurol Neurosurg Psychiatry       Date:  1982-08       Impact factor: 10.154

8.  Juvenile hepatic fibropolycystic disease and other abnormalities.

Authors:  J E Carty; C T Jones
Journal:  Postgrad Med J       Date:  1978-05       Impact factor: 2.401

9.  Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis.

Authors:  K Zerres; M C Völpel; H Weiss
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

Review 10.  Meckel syndrome.

Authors:  R Salonen; P Paavola
Journal:  J Med Genet       Date:  1998-06       Impact factor: 6.318
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