Literature DB >> 24101165

Identification of novel mutation in autosomal recessive infantile malignant osteopetrosis.

Sirisha Rani Siddaiahgari1, Darshak Makadia, Nikit Shah, Radha Rama Devi, Lokesh Lingappa.   

Abstract

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Year:  2013        PMID： 24101165     DOI： 10.1007/s12098-013-1250-1

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  6 in total

1.  Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis.

Authors:  Shubha R Phadke; Bjoern Fischer; Neerja Gupta; Prajnya Ranganath; Madhulika Kabra; Uwe Kornak
Journal:  Indian J Med Res       Date:  2010-04       Impact factor: 2.375

2.  Osteopetrosis--improvement of hematologic findings with age.

Authors:  M Totan; D Albayrak
Journal:  Indian J Pediatr       Date:  1999 Sep-Oct       Impact factor: 1.967

3.  The mutational spectrum of human malignant autosomal recessive osteopetrosis.

Authors:  C Sobacchi; A Frattini; P Orchard; O Porras; I Tezcan; M Andolina; R Babul-Hirji; I Baric; N Canham; D Chitayat; S Dupuis-Girod; I Ellis; A Etzioni; A Fasth; A Fisher; B Gerritsen; V Gulino; E Horwitz; V Klamroth; E Lanino; M Mirolo; A Musio; G Matthijs; S Nonomaya; L D Notarangelo; H D Ochs; A Superti Furga; J Valiaho; J L van Hove; M Vihinen; D Vujic; P Vezzoni; A Villa
Journal:  Hum Mol Genet       Date:  2001-08-15       Impact factor: 6.150

4.  A single-center experience in 20 patients with infantile malignant osteopetrosis.

Authors:  Evelina Mazzolari; Concetta Forino; Alessia Razza; Fulvio Porta; Anna Villa; Luigi Daniele Notarangelo
Journal:  Am J Hematol       Date:  2009-08       Impact factor: 10.047

5.  Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis.

Authors:  A Frattini; P J Orchard; C Sobacchi; S Giliani; M Abinun; J P Mattsson; D J Keeling; A K Andersson; P Wallbrandt; L Zecca; L D Notarangelo; P Vezzoni; A Villa
Journal:  Nat Genet       Date:  2000-07       Impact factor: 38.330

6.  Osteopetrosis with Arnold Chiari malformation type I and brain stem compression.

Authors:  M L Kulkarni; S N Marakkanavar; S Sushanth; N Pradeep; C Ashok; M D Balaji; K P Sajith; G Srinivas
Journal:  Indian J Pediatr       Date:  2007-04       Impact factor: 5.319
  6 in total
  1 in total

Review 1.  A review of skeletal dysplasia research in India.

Authors:  A Uttarilli; H Shah; A Shukla; K M Girisha
Journal:  J Postgrad Med       Date:  2018 Apr-Jun       Impact factor: 1.476
  1 in total

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