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The SNCA (A53T, A30P, E46K) and LRRK2 (G2019S) mutations are rare cause of Parkinson's disease in South Indian patients

Parkinsonism & related disorders, 2012-07, Vol.18 (6), p.801-802

2012

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Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy

Nature genetics, 1997-10, Vol.17 (2), p.194-197

1997

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Unraveling the Genetic Basis of Combined Deafness and Male Infertility Phenotypes through High‐Throughput Sequencing in a Unique Cohort from South India

Genetics & genomics next, 2024-06, Vol.5 (2), p.2300206-n/a

2024

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The tip link protein Cadherin-23: From Hearing Loss to Cancer

Pharmacological research, 2018-04, Vol.130, p.25-35

2018

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Genetic epidemiology of stuttering among school children in the state of Tamil Nadu, India

Journal of fluency disorders, 2018-12, Vol.58, p.11-21

2018

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Evaluation of recurrent GNPTAB, GNPTG, and NAGPA variants associated with stuttering

Genetics & genomics next, 2021-06, Vol.2 (2), p.e10043-n/a

2021

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PARK2 gene mutations in early onset Parkinson's disease patients of South India

Neuroscience letters, 2012-08, Vol.523 (2), p.145-147

2012

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FMR1 gene CGG repeat distribution among the three individual cohorts with intellectual disability, autism, and primary ovarian insufficiency from Tamil Nadu, Southern India

Genetics & genomics next, 2021-06, Vol.2 (2), p.e10048-n/a

2021

Volltextzugriff (PDF)

Autosomal Dominant Hearing Loss resulting from p.R75Q Mutation in the GJB2 Gene: Nonsyndromic presentation in a South Indian Family: P.R75Q Mutation of the GJB2 Gene in India

Annals of human genetics, 2015-01, Vol.79 (1), p.76-82

2015

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Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss

Human mutation, 1998, Vol.11 (5), p.387-394

1998

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Induction of apoptosis in mouse neuroblastoma (Neuro-2a) cells by thymoquinone

Biomedicine & preventive nutrition, 2012-10, Vol.2 (4), p.223-227

2012

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Refining the DFNB7–DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2

Gene, 2000-04, Vol.246 (1), p.265-274

2000

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Refining the DFNB17 interval in consanguineous Indian families

Molecular biology reports, 2004-06, Vol.31 (2), p.97-105

2004

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Construction of P1-derived artificial chromosome and yeast artificial chromosome contigs encompassing the DFNB7 and DFNB11 region of chromosome 9q13-21

Genome research, 1997-09, Vol.7 (9), p.879

1997

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Association of ABO and Rh(D) blood groups with filariasis

Human heredity, 1990, Vol.40 (6), p.381

1990

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New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p

American journal of medical genetics, 1997-09, Vol.71 (4), p.467-471

1997

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Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31

American journal of medical genetics, 1998-06, Vol.78 (2), p.107-113

1998

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The SNCA (A53T, A30P, E46K) and LRRK2 (G2019S) mutations are rare cause of Parkinson's disease in South Indian patients

Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy

Unraveling the Genetic Basis of Combined Deafness and Male Infertility Phenotypes through High‐Throughput Sequencing in a Unique Cohort from South India

The tip link protein Cadherin-23: From Hearing Loss to Cancer

Genetic epidemiology of stuttering among school children in the state of Tamil Nadu, India

Evaluation of recurrent GNPTAB, GNPTG, and NAGPA variants associated with stuttering

PARK2 gene mutations in early onset Parkinson's disease patients of South India

FMR1 gene CGG repeat distribution among the three individual cohorts with intellectual disability, autism, and primary ovarian insufficiency from Tamil Nadu, Southern India

Autosomal Dominant Hearing Loss resulting from p.R75Q Mutation in the GJB2 Gene: Nonsyndromic presentation in a South Indian Family: P.R75Q Mutation of the GJB2 Gene in India

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss

Induction of apoptosis in mouse neuroblastoma (Neuro-2a) cells by thymoquinone

Refining the DFNB7–DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2

Identification and mutation analysis of a cochlear-expressed, zinc finger protein gene at the DFNB7/11 and dn hearing-loss-loci on human chromosome 9q and mouse chromosome 19

Refining the DFNB17 interval in consanguineous Indian families

Construction of P1-derived artificial chromosome and yeast artificial chromosome contigs encompassing the DFNB7 and DFNB11 region of chromosome 9q13-21

Association of ABO and Rh(D) blood groups with filariasis

New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p

Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31

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