Literature DB >> 5963210

Oral-facial-digital syndrome, with polycystic kidneys and liver: pathological and cytogenetic studies.

C C Tucker, S C Finley, E S Tucker, W H Finley.   

Abstract

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Year:  1966        PMID： 5963210      PMCID： PMC1012919          DOI： 10.1136/jmg.3.2.145

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


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  8 in total

1.  STUDIES OF A FAMILY WITH THE ORAL-FACIAL-DIGITAL SYNDROME.

Authors:  T C DOEGE; H C THULINE; J H PRIEST; D E NORBY; J S BRYANT
Journal:  N Engl J Med       Date:  1964-11-19       Impact factor: 91.245

2.  An apparently identical extra autosome in two severely retarded sisters with multiple malformations.

Authors:  K H GUSTAVSON; B HAGBERG; S C FINLEY; W H FINLEY
Journal:  Cytogenetics       Date:  1962

3.  Hypertrophied frenuli, oligophrenia, famflial trembling and anomalies of the hand. Report of four casesin one family and a forme fruste in another.

Authors:  R J GORLIN; V E ANDERSON; C R SCOTT
Journal:  N Engl J Med       Date:  1961-03-09       Impact factor: 91.245

4.  Disturbances of the metanephronic renal anlage. A case report.

Authors:  A W MORRIS; I M JOHNSON
Journal:  Arch Pathol       Date:  1961-09

5.  Chromosomal analysis in a case of orofacial-digital syndrome.

Authors:  H KAPLAN; T VAHARU; M L VOORHESS; L I GARDNER
Journal:  N Engl J Med       Date:  1962-04-12       Impact factor: 91.245

6.  [Hereditary abnormality of the buccal mucosa: abnormal bands and frenula].

Authors:  J PSAUME
Journal:  Revue Stomatol       Date:  1954-04

7.  The oral-facial-digital syndrome: a multiple congenital condition of females with associated chromosomal abnormalities.

Authors:  A L RUESS; S PRUZANSKY; E F LIS; K PATAU
Journal:  Pediatrics       Date:  1962-06       Impact factor: 7.124

8.  Partial-trisomy syndromes. II. An insertion as cause of the OFD syndrome in mother and daughter.

Authors:  K PATAU; E THERMAN; S L INHORN; D W SMITH; A L RUESS
Journal:  Chromosoma       Date:  1961       Impact factor: 4.316
  8 in total
  9 in total

1.  Polycystic disease of kidney and liver presenting in childhood.

Authors:  H Blyth; B G Ockenden
Journal:  J Med Genet       Date:  1971-09       Impact factor: 6.318

2.  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

3.  Rare pediatric conditions: contribution of grey-scale ultrasonography.

Authors:  L Garel; J P Montagne; C Fauré
Journal:  Pediatr Radiol       Date:  1979-10

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.  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

6.  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

7.  Cerebral abnormalities in the oral-facial-digital syndrome.

Authors:  B P Wood; L W Young; P L Townes
Journal:  Pediatr Radiol       Date:  1975-06-13

8.  X-linked dominant inherited diseases with lethality in hemizygous males.

Authors:  R Wettke-Schäfer; G Kantner
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

9.  Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum.

Authors:  A A Connacher; C C Forsyth; W K Stewart
Journal:  J Med Genet       Date:  1987-02       Impact factor: 6.318
  9 in total

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