Literature DB >> 2716039

Hirschsprung's disease, distinctive facies, and microcephaly.

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Year:  1989        PMID: 2716039      PMCID: PMC1017307          DOI: 10.1136/jmg.26.4.287

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


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  9 in total

1.  Hirschsprung's disease and congenital deafness. Familial assocation.

Authors:  A G Weinberg; G Currarino; A M Besserman
Journal:  Hum Genet       Date:  1977-09-22       Impact factor: 4.132

2.  Concurrent de novo interstitial deletion of band 2p22 and reciprocal translocation (3;7)(p21;q22).

Authors:  G C Webb; C G Keith; N T Campbell
Journal:  J Med Genet       Date:  1988-02       Impact factor: 6.318

3.  Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome.

Authors:  H Santos; J Mateus; M J Leal
Journal:  J Med Genet       Date:  1988-03       Impact factor: 6.318

4.  Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration.

Authors:  J A Hurst; M Markiewicz; D Kumar; E M Brett
Journal:  J Med Genet       Date:  1988-07       Impact factor: 6.318

5.  Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality.

Authors:  C J Curry; J C Carey; J S Holland; D Chopra; R Fineman; M Golabi; S Sherman; R A Pagon; J Allanson; S Shulman
Journal:  Am J Med Genet       Date:  1987-01

6.  Hirschsprung's disease and Waardenburg's syndrome.

Authors:  D Branski; N R Dennis; J M Neale; L J Brooks
Journal:  Pediatrics       Date:  1979-05       Impact factor: 7.124

7.  Hirschsprung megacolon and cleft palate in two sibs.

Authors:  R B Goldberg; R J Shprintzen
Journal:  J Craniofac Genet Dev Biol       Date:  1981

8.  Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly in sibs: a case for fetoscopy.

Authors:  K M Laurence; R Prosser; I Rocker; J F Pearson; C Richard
Journal:  J Med Genet       Date:  1975-12       Impact factor: 6.318

9.  Familial Hirschsprung's disease and type D brachydactyly: a report of four affected males in two generations.

Authors:  J F Reynolds; J C Barber; B A Alford; J G Chandler; T E Kelly
Journal:  Pediatrics       Date:  1983-02       Impact factor: 7.124

  9 in total
  2 in total

1.  Association of 13q deletion and Hirschsprung's disease.

Authors:  P Kiss; M Osztovics
Journal:  J Med Genet       Date:  1989-12       Impact factor: 6.318

2.  Are abortions more or less frequent once prenatal diagnosis is available?

Authors:  S Bundey; E Boughton
Journal:  J Med Genet       Date:  1989-12       Impact factor: 6.318

  2 in total

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