Literature DB >> 5450274

Renal function and morphology in a girl with oculocerebrorenal syndrome.

I Sagel, R O Ores, A M Yuceoglu.   

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Year:  1970        PMID: 5450274     DOI: 10.1016/s0022-3476(70)80056-7

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


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  6 in total

1.  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

2.  Oculo-cerebro-renal syndrome: failure to demonstrate specific neuropathological abnormalities in four cases.

Authors:  A K Banerjee; I V Allen; P McKee
Journal:  Ir J Med Sci       Date:  1982-02       Impact factor: 1.568

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.  Arachnodactyly, aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones.

Authors:  P A Bhaskar; K Jagannathan; K Valmikinathan
Journal:  J Neurol Neurosurg Psychiatry       Date:  1974-12       Impact factor: 10.154

5.  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

6.  Decreased procollagen production in cultured fibroblasts from patients with Lowe's syndrome.

Authors:  M J Palmieri; J O'Hara; B States; S Segal
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

  6 in total

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