Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Usha Dave"'
Autor:
Usha Dave, Paediatrician, Mils Goregaon, Mumbai, Maharashtra, India., Clinical Geneticist, Director, Mils Goregaon, Mumbai, Maharashtra, India., Khandare V J, Muralidhar Mahajan
Publikováno v:
MedPulse International Journal of Anatomy. 10:11-14
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a2c8cf29d06ba35a5924017400d66ffb
https://doi.org/10.26611/10011014
https://doi.org/10.26611/10011014
Autor:
Usha Dave
Publikováno v:
International Journal of Human Genetics. 16:89-97
Genetic counseling (GC) is a communication process and has been described in the past 3 decades for its objectives, principles to be used, the process and the steps involved, various types of couns...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::caf029946502492ed001bd763f01e17b
https://doi.org/10.1080/09723757.2016.11886283
https://doi.org/10.1080/09723757.2016.11886283
Autor:
Mohamed Abd El Aal, Elsayed Abdelkreem, Usha Dave, Hidenori Ohnishi, Radha Rama Devi Akella, Shaimaa Mahmoud, Hiroki Otsuka, Yuka Aoyama, Toshiyuki Fukao, Mina Nakama, Hideo Sasai, Sudhir Sane
Publikováno v:
JIMD Reports ISBN: 9783662558324
Beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase (T2) deficiency) is an inherited disease of isoleucine catabolism and ketone body utilization caused by ACAT1 mutations. We identified ten Indian patients who manifested with ketoac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a706d8ae20a31bc2917ed575bbd6e9e0
https://pubmed.ncbi.nlm.nih.gov/27928777
https://pubmed.ncbi.nlm.nih.gov/27928777
Autor:
Usha Dave, Dhanlaxmi Shetty
Publikováno v:
International Journal of Human Genetics. 10:21-32
At a Tertiary Genetic Centre, children with mental retardation (MR) (also referred as intellectual disability) and associated developmental disabilities were investigated for genetic diagnosis which is important in prevention and genetic counseling w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb19c2bd16926df9d69491a042dbc69e
https://doi.org/10.1080/09723757.2010.11886081
https://doi.org/10.1080/09723757.2010.11886081
Publikováno v:
International Journal of Human Genetics. 6:203-207
KEYWORDS Trisomy 9 p; translocation (X; 9); maternal reciprocal translocation; mental retardation ABSTRACT A rare case of trisomy 9 p syndrome resulting from maternal reciprocal translocation is reported here, in a 14-year old female child with menta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::15d2edc7bdb9ecec94f61ccbd6aa5b8d
https://doi.org/10.1080/09723757.2006.11885965
https://doi.org/10.1080/09723757.2006.11885965
Publikováno v:
International Journal of Human Genetics. 2:49-53
The present study reports the correlation of maternal age and chromosomal aberration found in 160 Down syndrome cases. The clinical diagnosis of Down Syndrome was evaluated with reference to cytogenetic profiles and maternal age,which revealed that 7
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a39d303445b7ba2d0e81eda05e344d3f
https://doi.org/10.1080/09723757.2002.11885784
https://doi.org/10.1080/09723757.2002.11885784
Publikováno v:
International Journal of Human Genetics. 1:211-217
The present study reports the chemical diagnosis of 254 high-risk children by GC/MS using MILS method, which detects biochemical marker compounds specific for congenital metabolic disorders. Air-dried "urine filter paper" allows simple bedside collec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5c1e684ddbb1bc20a070966cef60c6ad
https://doi.org/10.1080/09723757.2001.11885761
https://doi.org/10.1080/09723757.2001.11885761
Publikováno v:
Journal of Chromatography B: Biomedical Sciences and Applications. 746:41-49
To heighten the effectiveness of chemical diagnosis for inborn errors of metabolism (IEM) using urease pretreatment and GC-MS analysis, a sample collection and transportation method was contrived. The resulting "filter paper set" allows simple urine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::606381e84aec9a9ea5d59ec7b9772495
https://doi.org/10.1016/s0378-4347(00)00087-6
https://doi.org/10.1016/s0378-4347(00)00087-6
Autor:
Sheela Nampoothiri, Eresha Jasinge, Usha Dave, Ashish Bavdekar, Jayesh Sheth, Suresh Edayankara Kadangot, Sarita Gupta, Mehul Mistri, Varun Khanna, Frenny Sheth, Parag M Tamhankar, Mamta N. Muranjan, Chitra Ankleshwaria
Publikováno v:
Journal of human genetics. 59(4)
Gaucher disease (GD) is the most common glycolipid storage disorder resulting from glucocerebrosidase deficiency due to mutations in the GBA gene. Study was performed in 33 unrelated patients with low β-glucosidase activity in leukocytes and/or fibr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b31b8b3deec6bef9435312fde139ac2
https://pubmed.ncbi.nlm.nih.gov/26008600
https://pubmed.ncbi.nlm.nih.gov/26008600
Autor:
Dhanlaxmi Shetty, Usha Dave
Publikováno v:
Journal of Prenatal Diagnosis and Therapy. 1:26
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d36611319a1981a28091131102a75154
https://doi.org/10.4103/0976-1756.62140
https://doi.org/10.4103/0976-1756.62140