Clinical Applications and Implications of Common and Founder Mutations in Indian Subpopulations
Published 2014 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Clinical Applications and Implications of Common and Founder Mutations in Indian Subpopulations
Authors
Keywords
-
Journal
HUMAN MUTATION
Volume 36, Issue 1, Pages 1-10
Publisher
Wiley
Online
2014-10-17
DOI
10.1002/humu.22704
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease
- (2014) Chitra Ankleshwaria et al. JOURNAL OF HUMAN GENETICS
- Development and Performance of a Comprehensive Targeted Sequencing Assay for Pan-Ethnic Screening of Carrier Status
- (2014) Alice K. Tanner et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children – frequent and underestimated cause of disability among Czech gypsies
- (2014) Petra Lassuthova et al. Orphanet Journal of Rare Diseases
- A common founder mutation p.P2063S in exon 36 of VWF in 11 unrelated Indian von Willebrand disease (VWD) families
- (2013) Priyanka Kasatkar et al. ANNALS OF HEMATOLOGY
- National newborn screening program — Still a hype or a hope now?
- (2013) Seema Kapoor et al. INDIAN PEDIATRICS
- Genetic Counseling: A Transnational Perspective
- (2013) Niby J. Elackatt Journal of Genetic Counseling
- The mutation spectrum in Indian patients with Gaucher disease
- (2013) Vartika Bisariya et al. GENOME BIOLOGY
- Ethnic-specificWRNmutations in South Asian Werner syndrome patients: potential founder effect in patients with Indian or Pakistani ancestry
- (2013) Bidisha Saha et al. Molecular Genetics & Genomic Medicine
- Frequency Distribution of Q188R, N314D, Duarte 1, and Duarte 2 GALT Variant Alleles in an Indian Galactosemia Population
- (2012) Ramandeep Singh et al. BIOCHEMICAL GENETICS
- Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: Identification of 10 novel mutations and their structural and functional implications
- (2012) Ramandeep Singh et al. CLINICA CHIMICA ACTA
- Ancestral founder mutations in calpain-3 in the Indian Agarwal community: Historical, clinical, and molecular perspective
- (2012) Arunkanth Ankala et al. MUSCLE & NERVE
- Identification of Novel Mutations in HEXA Gene in Children Affected with Tay Sachs Disease from India
- (2012) Mehul Mistri et al. PLoS One
- Shared and Unique Components of Human Population Structure and Genome-Wide Signals of Positive Selection in South Asia
- (2011) Mait Metspalu et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India
- (2011) M.D. Bashyam et al. BRITISH JOURNAL OF DERMATOLOGY
- Molecular basis of Bernard-Soulier syndrome in 27 patients from India
- (2011) E. SUMITHA et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- Hemophilia Gene Therapy: A Holy Grail Found
- (2011) Katherine P Ponder MOLECULAR THERAPY
- Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America
- (2011) Luis Vernengo et al. NEUROMUSCULAR DISORDERS
- Genetic Approach to Evaluation of Hearing Loss
- (2011) Melinda Cohen et al. OTOLARYNGOLOGIC CLINICS OF NORTH AMERICA
- Hearing loss: a common disorder caused by many rare alleles
- (2010) Dorith Raviv et al. Annals of the New York Academy of Sciences
- LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population
- (2010) Dimitar N Azmanov et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Newborn screening in India: Current perspectives
- (2010) Seema Kapoor et al. INDIAN PEDIATRICS
- GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment
- (2010) G. Padma et al. JOURNAL OF GENETICS
- Human Heme Oxygenase-1 Deficiency Presenting With Hemolysis, Nephritis, and Asplenia
- (2010) Nita Radhakrishnan et al. JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
- Indian-subcontinent NBIA: Unusual phenotypes, novelPANK2mutations, and undetermined genetic forms
- (2010) Annu Aggarwal et al. MOVEMENT DISORDERS
- Indian genetic disease database
- (2010) S. Pradhan et al. NUCLEIC ACIDS RESEARCH
- A universal carrier test for the long tail of Mendelian disease
- (2010) Balaji S. Srinivasan et al. REPRODUCTIVE BIOMEDICINE ONLINE
- Null Mutations in LTBP2 Cause Primary Congenital Glaucoma
- (2009) Manir Ali et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A strong founder effect for twoNLRP7mutations in the Indian population: an intriguing observation
- (2009) R Slim et al. CLINICAL GENETICS
- Function and Expression Pattern of Nonsyndromic Deafness Genes
- (2009) Nele Hilgert et al. CURRENT MOLECULAR MEDICINE
- A study of reported factor VIII use around the world
- (2009) J. S. STONEBRAKER et al. HAEMOPHILIA
- A study of variations in the reported haemophilia A prevalence around the world
- (2009) J. S. STONEBRAKER et al. HAEMOPHILIA
- The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations
- (2009) J M Flanagan et al. HEREDITY
- Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase
- (2009) A. E. Carney et al. HUMAN MOLECULAR GENETICS
- BRCA1 and BRCA2 germline mutation analysis among Indian women from south India: identification of four novel mutations and high-frequency occurrence of 185delAG mutation
- (2009) Kannan Vaidyanathan et al. JOURNAL OF BIOSCIENCES
- Novel Mutations in Factor IX Gene From Western India With Reference to Their Phenotypic and Haplotypic Attributes
- (2009) Leera Quadros et al. JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
- Reconstructing Indian population history
- (2009) David Reich et al. NATURE
- Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: High prevalence of 525del T
- (2009) SatishV Khadilkar et al. NEUROLOGY INDIA
- ACOG Committee Opinion No. 442: Preconception and Prenatal Carrier Screening for Genetic Diseases in Individuals of Eastern European Jewish Descent
- (2009) OBSTETRICS AND GYNECOLOGY
- Correlation between Genetic and Geographic Structure in Europe
- (2008) Oscar Lao et al. CURRENT BIOLOGY
- Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss
- (2008) Ram Shankar Mani et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Carrier screening in individuals of Ashkenazi Jewish descent
- (2008) Susan J Gross et al. GENETICS IN MEDICINE
- Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
- (2008) C. Castellani et al. Journal of Cystic Fibrosis
- Genetic landscape of the people of India: a canvas for disease gene exploration
- (2008) JOURNAL OF GENETICS
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now