Literature DB >> 20162319

Antenatal diagnosis of Lowe syndrome.

Sidharth Kumar Sethi, Joel Lunardi, Madhulika Kabra, Deepika Deka, Arvind Bagga.   

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Year:  2010        PMID： 20162319     DOI： 10.1007/s10157-010-0267-2

Source DB:  PubMed          Journal:  Clin Exp Nephrol        ISSN： 1342-1751            Impact factor:   2.801


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  5 in total

1.  Physical mapping and genomic structure of the Lowe syndrome gene OCRL1.

Authors:  R L Nussbaum; B M Orrison; P A Jänne; L Charnas; A C Chinault
Journal:  Hum Genet       Date:  1997-02       Impact factor: 4.132

2.  Prenatal diagnosis of Lowe syndrome by OCRL1 messenger RNA analysis.

Authors:  T Tsuru; T Yamagata; M Y Momoi; I Okabe
Journal:  Prenat Diagn       Date:  1999-03       Impact factor: 3.050

3.  Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.

Authors:  V Satre; N Monnier; F Berthoin; C Ayuso; A Joannard; P S Jouk; I Lopez-Pajares; A Megabarne; H J Philippe; H Plauchu; M L Torres; J Lunardi
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

4.  First report of prenatal biochemical diagnosis of Lowe syndrome.

Authors:  S F Suchy; T Lin; J A Horwitz; W E O'Brien; R L Nussbaum
Journal:  Prenat Diagn       Date:  1998-11       Impact factor: 3.050

5.  Mutations in OCRL1 gene in Indian children with Lowe syndrome.

Authors:  Sidharth Kumar Sethi; Arvind Bagga; Ashima Gulati; Pankaj Hari; Neerja Gupta; Joel Lunardi
Journal:  Clin Exp Nephrol       Date:  2008-05-24       Impact factor: 2.801
  5 in total
  1 in total

Review 1.  The oculocerebrorenal syndrome of Lowe: an update.

Authors:  Arend Bökenkamp; Michael Ludwig
Journal:  Pediatr Nephrol       Date:  2016-03-24       Impact factor: 3.714
  1 in total

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