Literature DB >> 5428659

Oculo-cerebro-renal syndrome. Report of a case in a baby girl.

L S Harris, K A Gitter, M A Galin, G P Plechaty.   

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Year:  1970        PMID： 5428659      PMCID： PMC1207759          DOI： 10.1136/bjo.54.4.278

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


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  3 in total

1.  METABOLISM OF ORNITHINE AND OTHER AMINO ACIDS IN THE CEREBRO-OCULO-RENAL SYNDROME.

Authors:  R SCHWARTZ; P W HALL; G J GABUZDA
Journal:  Am J Med       Date:  1964-05       Impact factor: 4.965

2.  The de Toni-Fanconi syndrome with cystinosis; clinical and metabolic study of two cases in a family and a critical review on the nature of the syndrome.

Authors:  H G WORTHEN; R A GOOD
Journal:  AMA J Dis Child       Date:  1958-06

3.  Ocular pathology in the oculo-cerebro-renal syndrome of Lowe.

Authors:  V T Curtin; E E Joyce; N Ballin
Journal:  Am J Ophthalmol       Date:  1967-09       Impact factor: 5.258
  3 in total
  4 in total

1.  Complete oculocerebrorenal phenotype of Lowe syndrome in a female patient with half reduction of inositol polyphosphate 5-phosphatase.

Authors:  Katsusuke Yamamoto; Yasuhiro Hasegawa; Yasuhisa Ohata; Kenichi Satomura; Yoshimi Mizoguchi; Tsunesuke Shimotsuji; Takehisa Yamamoto
Journal:  CEN Case Rep       Date:  2019-11-09

2.  Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms.

Authors:  D N Silver; R A Lewis; R L Nussbaum
Journal:  J Clin Invest       Date:  1987-01       Impact factor: 14.808

3.  A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.

Authors:  Milena Cau; Maria Addis; Rita Congiu; Cristiana Meloni; Antonio Cao; Simona Santaniello; Mario Loi; Francesco Emma; Orsetta Zuffardi; Roberto Ciccone; Gabriella Sole; Maria Antonietta Melis
Journal:  J Hum Genet       Date:  2006-09-06       Impact factor: 3.172

4.  Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint.

Authors:  O T Mueller; J K Hartsfield; L A Gallardo; Y P Essig; K L Miller; P R Papenhausen; T A Tedesco
Journal:  Am J Hum Genet       Date:  1991-10       Impact factor: 11.025
  4 in total

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