Literature DB >> 4951545

Oculocerebrorenal syndrome in a female child.

J Svorc, J Masopust, A Komárková, M Macek, J Hyánek.   

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Year:  1967        PMID： 4951545

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN： 0002-922X


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  7 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.  Lowe oculocerebrorenal syndrome: DNA-based linkage of the gene to Xq24-q26, using tightly linked flanking markers and the correlation to lens examination in carrier diagnosis.

Authors:  C Wadelius; P Fagerholm; U Pettersson; G Annerén
Journal:  Am J Hum Genet       Date:  1989-02       Impact factor: 11.025

3.  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

4.  X-chromosomal-linked diseases affecting the eye: status of the heterozygote female.

Authors:  A E Krill
Journal:  Trans Am Ophthalmol Soc       Date:  1969

5.  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

6.  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

7.  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
  7 in total

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