Literature DB >> 26440089

Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome.

Mansoor C Abdulla1, Anas M Alazami, Jemshad Alungal, Jassim M Koya, Mohthash Musambil.   

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Year:  2015        PMID： 26440089     DOI： 10.1007/s12041-015-0544-7

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  11 in total

1.  Woodhouse and Sakati syndrome (MIM 241080): report of a new patient.

Authors:  D Gül; M Ozata; H Mergen; Z Odabaşi; M Mergen
Journal:  Clin Dysmorphol       Date:  2000-04       Impact factor: 0.816

2.  C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.

Authors:  A M Alazami; S A Schneider; D Bonneau; L Pasquier; M Carecchio; M Kojovic; K Steindl; M de Kerdanet; M M Nezarati; K P Bhatia; B Degos; E Goh; F S Alkuraya
Journal:  Clin Genet       Date:  2010-12       Impact factor: 4.438

Review 3.  Genetics of neurodegeneration with brain iron accumulation.

Authors:  Allison Gregory; Susan J Hayflick
Journal:  Curr Neurol Neurosci Rep       Date:  2011-06       Impact factor: 5.081

4.  Three siblings with Woodhouse-Sakati syndrome in an Indian family.

Authors:  George Koshy; Sumita Danda; Nihal Thomas; Vikram Mathews; Vijay Viswanathan
Journal:  Clin Dysmorphol       Date:  2008-01       Impact factor: 0.816

5.  A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin.

Authors:  Rabia Habib; Sulman Basit; Saadullah Khan; Muhammad Nasim Khan; Wasim Ahmad
Journal:  Gene       Date:  2011-09-22       Impact factor: 3.688

6.  A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities.

Authors:  N J Woodhouse; N A Sakati
Journal:  J Med Genet       Date:  1983-06       Impact factor: 6.318

7.  Dystonia in the Woodhouse Sakati syndrome: A new family and literature review.

Authors:  Susanne A Schneider; Kailash P Bhatia
Journal:  Mov Disord       Date:  2008-03-15       Impact factor: 10.338

8.  Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.

Authors:  Anas M Alazami; Amr Al-Saif; Abdulaziz Al-Semari; Saeed Bohlega; Soumaya Zlitni; Fatema Alzahrani; Prashant Bavi; Namik Kaya; Dilek Colak; Hanif Khalak; Andy Baltus; Borut Peterlin; Sumita Danda; Kailash P Bhatia; Susanne A Schneider; Nadia Sakati; Christopher A Walsh; Futwan Al-Mohanna; Brian Meyer; Fowzan S Alkuraya
Journal:  Am J Hum Genet       Date:  2008-11-20       Impact factor: 11.025

9.  Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene.

Authors:  Tawfeg Ben-Omran; Rehab Ali; Mariam Almureikhi; Seham Alameer; Muna Al-Saffar; Christopher A Walsh; Jillian M Felie; Ahmad Teebi
Journal:  Am J Med Genet A       Date:  2011-09-30       Impact factor: 2.802

Review 10.  Neuroimaging features of neurodegeneration with brain iron accumulation.

Authors:  M C Kruer; N Boddaert; S A Schneider; H Houlden; K P Bhatia; A Gregory; J C Anderson; W D Rooney; P Hogarth; S J Hayflick
Journal:  AJNR Am J Neuroradiol       Date:  2011-09-15       Impact factor: 3.825
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