Zobrazeno 1 - 10
of 31
pro vyhledávání: '"M Markandaya"'
Publikováno v:
Acta Neurologica Scandinavica. 111:54-63
Objective - To find the mutation and polymorphism spectrum of TSC1 and TSC2 genes in patients affected with tuberous sclerosis complex from the Indian population. Material and methods - All coding exons and promoter regions of both TSC genes were scr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa15a3599b5986d5bcf1afe31c9fa457
https://doi.org/10.1111/j.1600-0404.2004.00366.x
https://doi.org/10.1111/j.1600-0404.2004.00366.x
Publikováno v:
Clinical Genetics. 66:341-348
Patients with primary microcephaly, an autosomal recessive trait, have mild to severe mental retardation without any other neurological deficits. It is a genetically heterogeneous disorder with six known loci: MCPH1 to MCPH6. Only the genes for MCPH1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6ea03f3037c87250c0ab42cd0187a40f
https://doi.org/10.1111/j.1399-0004.2004.00304.x
https://doi.org/10.1111/j.1399-0004.2004.00304.x
Publikováno v:
Clinical genetics. 66(4)
Patients with primary microcephaly, an autosomal recessive trait, have mild to severe mental retardation without any other neurological deficits. It is a genetically heterogeneous disorder with six known loci: MCPH1 to MCPH6. Only the genes for MCPH1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::371d2be4d6efca9610d5f918ebbdeacf
https://pubmed.ncbi.nlm.nih.gov/15355437
https://pubmed.ncbi.nlm.nih.gov/15355437
Publikováno v:
Ophthalmic genetics. 25(1)
Purpose: Glaucoma is the second leading cause of blindness. In India, ~1.5 million people are blind due to glaucoma. Mutations in the MYOC gene located at the GLC1A locus on chromosome 1q21–q31 have been found in patients with juvenile-onset primar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cb6446ecc5ca93dea0b562216f3d1f6
https://pubmed.ncbi.nlm.nih.gov/15255110
https://pubmed.ncbi.nlm.nih.gov/15255110
Autor:
Pullabatla V. S. Prasad, Parthasarathy Sathyan, M Markandaya, Veeriah Selvaraju, Gomathy Sethuraman, Satish Chandra Srivastava, Arun Kumar, Nalin Thakker
Publikováno v:
BMC Medical Genetics, Vol 4, Iss 1, p 5 (2003)
BMC Medical Genetics
BMC Medical Genetics
Background PLS is a rare autosomal recessive disorder characterized by early onset periodontopathia and palmar plantar keratosis. PLS is caused by mutations in the cathepsin C (CTSC) gene. Dipeptidyl-peptidase I encoded by the CTSC gene removes dipep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad94e8103f0da310a5e1b347836c8edc
https://doi.org/10.1186/1471-2350-4-5
https://doi.org/10.1186/1471-2350-4-5
Publikováno v:
Journal of biosciences. 27(7)
In microcephaly (small head), the size of the head as measured by the occipito-frontal circumference of an affected individual is greater than three standard deviations below the population age-related mean. The cranial vault in a microcephaly patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::441e68e7142133c10c70daa950ec3c42
https://pubmed.ncbi.nlm.nih.gov/12571366
https://pubmed.ncbi.nlm.nih.gov/12571366
Publikováno v:
BMC Genetics. 5:13
Background Genomic imprinting is an epigenetic chromosomal modification in the gametes or zygotes that results in a non-random monoallelic expression of specific autosomal genes depending upon their parent of origin. Approximately 44 human genes have
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cbe6e4434a03d92a5fadc13e2e370f43
https://doi.org/10.1186/1471-2156-5-13
https://doi.org/10.1186/1471-2156-5-13
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