Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.
Saved in:
| Title: | Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India. |
|---|---|
| Authors: | Sheth H; FRIGE Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Satellite, Ahmedabad, India, 380015. harsh.sheth@frige.co.in., Nair A; FRIGE Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Satellite, Ahmedabad, India, 380015., Bhavsar R; FRIGE Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Satellite, Ahmedabad, India, 380015., Kamate M; KLES Prabhakar Kore Hospital, Belgaum, Karnataka, India., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Bavdekar A; Department of Pediatrics, K.E.M Hospital, Pune, India., Kadam S; Department of Pediatrics, K.E.M Hospital, Pune, India., Nampoothiri S; Department of Paediatrics, Amrita School of Medicine, Kochi, India., Panigrahi I; Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India., Kaur A; Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India., Shah S; Royal Institute of Child Neurosciences, Vastrapur, Ahmedabad, India., Mehta S; Royal Institute of Child Neurosciences, Vastrapur, Ahmedabad, India., Jagadeesan S; Department of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai, India., Suresh I; Department of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai, India., Kapoor S; Division of Genetics and Metabolism Department of Pediatrics, Lok Nayak Hospital and Maulana Azad Medical College, New Delhi, India., Bajaj S; The Purple Gene Clinic, Simplex Khushaangan, SV Road, Malad West, Mumbai, India., Devi RR; Rainbow Children's Hospital, Hyderabad, India., Prajapati A; Genetic Care Clinic, Ahmedabad, India., Godbole K; Deenanath Mangeshkar Hospital &Amp; Research Centre, Pune, India., Patel H; Zydus Hospital & Healthcare Research Pvt Ltd, Ahmedabad, India., Luhar Z; Civil Hospital, Asarwa, Ahmedabad, India., Shah RC; Ankur Institute of Child Health, Ahmedabad, India., Iyer A; Neurokids Clinic, Ahmedabad, India., Bijarnia S; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India., Puri R; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India., Muranjan M; Department of Paediatrics, KEM Hospital, Parel, Mumbai, India., Shah A; BJ Wadia Hospital for Children, Parel, Mumbai, India., Magar S; MGM Medical College, Aurangabad, India., Gupta N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Tayade N; Department of Pediatrics, Dr. Panjabrao Deshmukh Memorial Medical College, Amravati, India., Gandhi A; Unique Hospital, Solapur, India., Sowani A; Zydus Hospital & Healthcare Research Pvt Ltd, Ahmedabad, India., Kale S; FRIGE Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Satellite, Ahmedabad, India, 380015., Jalan A; NIRMAN, Vashi, India., Solanki D; Mantra Child Neurology and Epilepsy Hospital, Bhavnagar, India., Dalal A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India., Mane S; Department of Genetics, Yale School of Medicine, Yale Center for Genome Analysis, West Haven, CT, USA., Prabha CR; Department of Biochemistry, Faculty of Science, The M. S. University of Baroda, Vadodara, India., Sheth F; FRIGE Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Satellite, Ahmedabad, India, 380015., Joshi CG; Gujarat Biotechnology Research Centre, Gandhinagar, Gujarat, India., Joshi M; Gujarat Biotechnology Research Centre, Gandhinagar, Gujarat, India., Sheth J; FRIGE Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Satellite, Ahmedabad, India, 380015. Jayesh.sheth@frige.co.in. |
| Source: | Human genomics [Hum Genomics] 2024 May 10; Vol. 18 (1), pp. 46. Date of Electronic Publication: 2024 May 10. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
|
Full text is not displayed to guests.
Login for full access.
|
|
| FullText | Links: – Type: pdflink Text: Availability: 1 |
|---|---|
| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 38730490 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
| IllustrationInfo | |
| Items | – Name: Title Label: Title Group: Ti Data: Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Sheth+H%22">Sheth H</searchLink>; FRIGE Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Satellite, Ahmedabad, India, 380015. harsh.sheth@frige.co.in.<br /><searchLink fieldCode="AU" term="%22Nair+A%22">Nair A</searchLink>; FRIGE Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Satellite, Ahmedabad, India, 380015.<br /><searchLink fieldCode="AU" term="%22Bhavsar+R%22">Bhavsar R</searchLink>; FRIGE Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Satellite, Ahmedabad, India, 380015.<br /><searchLink fieldCode="AU" term="%22Kamate+M%22">Kamate M</searchLink>; KLES Prabhakar Kore Hospital, Belgaum, Karnataka, India.<br /><searchLink fieldCode="AU" term="%22Gowda+VK%22">Gowda VK</searchLink>; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.<br /><searchLink fieldCode="AU" term="%22Bavdekar+A%22">Bavdekar A</searchLink>; Department of Pediatrics, K.E.M Hospital, Pune, India.<br /><searchLink fieldCode="AU" term="%22Kadam+S%22">Kadam S</searchLink>; Department of Pediatrics, K.E.M Hospital, Pune, India.<br /><searchLink fieldCode="AU" term="%22Nampoothiri+S%22">Nampoothiri S</searchLink>; Department of Paediatrics, Amrita School of Medicine, Kochi, India.<br /><searchLink fieldCode="AU" term="%22Panigrahi+I%22">Panigrahi I</searchLink>; Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.<br /><searchLink fieldCode="AU" term="%22Kaur+A%22">Kaur A</searchLink>; Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.<br /><searchLink fieldCode="AU" term="%22Shah+S%22">Shah S</searchLink>; Royal Institute of Child Neurosciences, Vastrapur, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Mehta+S%22">Mehta S</searchLink>; Royal Institute of Child Neurosciences, Vastrapur, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Jagadeesan+S%22">Jagadeesan S</searchLink>; Department of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai, India.<br /><searchLink fieldCode="AU" term="%22Suresh+I%22">Suresh I</searchLink>; Department of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai, India.<br /><searchLink fieldCode="AU" term="%22Kapoor+S%22">Kapoor S</searchLink>; Division of Genetics and Metabolism Department of Pediatrics, Lok Nayak Hospital and Maulana Azad Medical College, New Delhi, India.<br /><searchLink fieldCode="AU" term="%22Bajaj+S%22">Bajaj S</searchLink>; The Purple Gene Clinic, Simplex Khushaangan, SV Road, Malad West, Mumbai, India.<br /><searchLink fieldCode="AU" term="%22Devi+RR%22">Devi RR</searchLink>; Rainbow Children's Hospital, Hyderabad, India.<br /><searchLink fieldCode="AU" term="%22Prajapati+A%22">Prajapati A</searchLink>; Genetic Care Clinic, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Godbole+K%22">Godbole K</searchLink>; Deenanath Mangeshkar Hospital &Amp; Research Centre, Pune, India.<br /><searchLink fieldCode="AU" term="%22Patel+H%22">Patel H</searchLink>; Zydus Hospital & Healthcare Research Pvt Ltd, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Luhar+Z%22">Luhar Z</searchLink>; Civil Hospital, Asarwa, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Shah+RC%22">Shah RC</searchLink>; Ankur Institute of Child Health, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Iyer+A%22">Iyer A</searchLink>; Neurokids Clinic, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Bijarnia+S%22">Bijarnia S</searchLink>; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.<br /><searchLink fieldCode="AU" term="%22Puri+R%22">Puri R</searchLink>; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.<br /><searchLink fieldCode="AU" term="%22Muranjan+M%22">Muranjan M</searchLink>; Department of Paediatrics, KEM Hospital, Parel, Mumbai, India.<br /><searchLink fieldCode="AU" term="%22Shah+A%22">Shah A</searchLink>; BJ Wadia Hospital for Children, Parel, Mumbai, India.<br /><searchLink fieldCode="AU" term="%22Magar+S%22">Magar S</searchLink>; MGM Medical College, Aurangabad, India.<br /><searchLink fieldCode="AU" term="%22Gupta+N%22">Gupta N</searchLink>; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.<br /><searchLink fieldCode="AU" term="%22Tayade+N%22">Tayade N</searchLink>; Department of Pediatrics, Dr. Panjabrao Deshmukh Memorial Medical College, Amravati, India.<br /><searchLink fieldCode="AU" term="%22Gandhi+A%22">Gandhi A</searchLink>; Unique Hospital, Solapur, India.<br /><searchLink fieldCode="AU" term="%22Sowani+A%22">Sowani A</searchLink>; Zydus Hospital & Healthcare Research Pvt Ltd, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Kale+S%22">Kale S</searchLink>; FRIGE Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Satellite, Ahmedabad, India, 380015.<br /><searchLink fieldCode="AU" term="%22Jalan+A%22">Jalan A</searchLink>; NIRMAN, Vashi, India.<br /><searchLink fieldCode="AU" term="%22Solanki+D%22">Solanki D</searchLink>; Mantra Child Neurology and Epilepsy Hospital, Bhavnagar, India.<br /><searchLink fieldCode="AU" term="%22Dalal+A%22">Dalal A</searchLink>; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.<br /><searchLink fieldCode="AU" term="%22Mane+S%22">Mane S</searchLink>; Department of Genetics, Yale School of Medicine, Yale Center for Genome Analysis, West Haven, CT, USA.<br /><searchLink fieldCode="AU" term="%22Prabha+CR%22">Prabha CR</searchLink>; Department of Biochemistry, Faculty of Science, The M. S. University of Baroda, Vadodara, India.<br /><searchLink fieldCode="AU" term="%22Sheth+F%22">Sheth F</searchLink>; FRIGE Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Satellite, Ahmedabad, India, 380015.<br /><searchLink fieldCode="AU" term="%22Joshi+CG%22">Joshi CG</searchLink>; Gujarat Biotechnology Research Centre, Gandhinagar, Gujarat, India.<br /><searchLink fieldCode="AU" term="%22Joshi+M%22">Joshi M</searchLink>; Gujarat Biotechnology Research Centre, Gandhinagar, Gujarat, India.<br /><searchLink fieldCode="AU" term="%22Sheth+J%22">Sheth J</searchLink>; FRIGE Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Satellite, Ahmedabad, India, 380015. Jayesh.sheth@frige.co.in. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101202210%22">Human genomics</searchLink> [Hum Genomics] 2024 May 10; Vol. 18 (1), pp. 46. <i>Date of Electronic Publication: </i>2024 May 10. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101202210 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1479-7364 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214739542%22">14739542 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genomics <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=38730490 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s40246-024-00613-9 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 46 Titles: – TitleFull: Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Sheth H – PersonEntity: Name: NameFull: Nair A – PersonEntity: Name: NameFull: Bhavsar R – PersonEntity: Name: NameFull: Kamate M – PersonEntity: Name: NameFull: Gowda VK – PersonEntity: Name: NameFull: Bavdekar A – PersonEntity: Name: NameFull: Kadam S – PersonEntity: Name: NameFull: Nampoothiri S – PersonEntity: Name: NameFull: Panigrahi I – PersonEntity: Name: NameFull: Kaur A – PersonEntity: Name: NameFull: Shah S – PersonEntity: Name: NameFull: Mehta S – PersonEntity: Name: NameFull: Jagadeesan S – PersonEntity: Name: NameFull: Suresh I – PersonEntity: Name: NameFull: Kapoor S – PersonEntity: Name: NameFull: Bajaj S – PersonEntity: Name: NameFull: Devi RR – PersonEntity: Name: NameFull: Prajapati A – PersonEntity: Name: NameFull: Godbole K – PersonEntity: Name: NameFull: Patel H – PersonEntity: Name: NameFull: Luhar Z – PersonEntity: Name: NameFull: Shah RC – PersonEntity: Name: NameFull: Iyer A – PersonEntity: Name: NameFull: Bijarnia S – PersonEntity: Name: NameFull: Puri R – PersonEntity: Name: NameFull: Muranjan M – PersonEntity: Name: NameFull: Shah A – PersonEntity: Name: NameFull: Magar S – PersonEntity: Name: NameFull: Gupta N – PersonEntity: Name: NameFull: Tayade N – PersonEntity: Name: NameFull: Gandhi A – PersonEntity: Name: NameFull: Sowani A – PersonEntity: Name: NameFull: Kale S – PersonEntity: Name: NameFull: Jalan A – PersonEntity: Name: NameFull: Solanki D – PersonEntity: Name: NameFull: Dalal A – PersonEntity: Name: NameFull: Mane S – PersonEntity: Name: NameFull: Prabha CR – PersonEntity: Name: NameFull: Sheth F – PersonEntity: Name: NameFull: Joshi CG – PersonEntity: Name: NameFull: Joshi M – PersonEntity: Name: NameFull: Sheth J IsPartOfRelationships: – BibEntity: Dates: – D: 10 M: 05 Text: 2024 May 10 Type: published Y: 2024 Identifiers: – Type: issn-electronic Value: 1479-7364 Numbering: – Type: volume Value: 18 – Type: issue Value: 1 Titles: – TitleFull: Human genomics Type: main |
| ResultId | 1 |
