Zobrazeno 1 - 10 of 619 pro vyhledávání: '"Bielas, S."'
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Akademický článek
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3
Akademický článek
Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population.
Autor: Kaur N; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., do Rosario MC; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Majethia P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Mascarenhas S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Rao LP; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Nair KV; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Hunakunti B; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Prasannakumar AP; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Naik R; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Narayanan DL; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Nayak SS; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Bhat V; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Sharma S; Neurology Division, Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India., Ramesh Bhat Y; Department of Paediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Yatheesha BL; Paediatric Neurology, Dheemahi Child Neurology and Development Center, Shimoga, India., Kulkarni R; Department of Paediatrics, Postgraduate Institute, Yashwantrao Chavan Memorial Hospital, Pune, India., Patil SJ; Division of Medical Genetics, Narayana Hrudayalaya Hospitals/Mazumdar-Shaw Medical Center, Bangalore, India., Nampoothiri S; Department of Paediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin, India., Siddiqui S; Department of Neuro and Vascular Interventional Radiology, Yashoda Hospitals, Hyderabad, India., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman., Bielas S; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Oct 29, pp. e63914. Date of Electronic Publication: 2024 Oct 29.
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4
Akademický článek
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.
Autor: Pande S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Majethia P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Nair K; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Rao LP; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Mascarenhas S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Kaur N; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., do Rosario MC; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Neethukrishna K; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Chaurasia A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9PL, United Kingdom., Hunakunti B; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Jadhav N; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Xavier S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Kumar J; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Bhat V; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Bhavani GS; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Narayanan DL; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Yatheesha BL; Dheemahi Child Neurology and Development Center, Shivamogga, India., Patil SJ; Division of Medical Genetics, Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospitals, Bangalore, India., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Cochin, India., Kamath N; Department of Paediatrics, Kasturba Medical College, Mangalore, Manipal Academy of Higher Education, Manipal, India., Aroor S; Department of Paediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Bhat Y R; Department of Paediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Lewis LE; Department of Paediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Sharma S; Neurology Division, Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India., Bajaj S; The Purple Gene clinic, Mumbai, India., Sankhyan N; Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education & Research, Chandigarh, India., Siddiqui S; Department of Neuro and Vascular Interventional Radiology, Yashoda Hospitals, Secunderabad, Hyderabad, India., Nayak SS; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Bielas S; Department of Human Genetics, University of Michigan, Ann Arbor, MI, United States of America., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.; Suma Genomics Private Limited, Manipal Center for Biotherapeutics Research, Manipal Academy of Higher Education, Manipal, India.; Department of Genetics, College of Medicine & Health Sciences, Sultan Qaboos University, Muscat, Oman., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. anju.shukla@manipal.edu.
Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Oct; Vol. 32 (10), pp. 1291-1298. Date of Electronic Publication: 2023 Dec 20.
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5
Akademický článek
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Autor: Majethia P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Kaur N; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Mascarenhas S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Rao LP; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Pande S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Narayanan DL; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Bhat V; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Nayak SS; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Nair KV; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Prasannakumar AP; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Chaurasia A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Hunakunti B; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Jadhav N; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Farooqui S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Yeole M; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Kothiwale V; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Naik R; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Bhat V; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Aroor S; Department of Paediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Lewis L; Department of Paediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Purkayastha J; Department of Paediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Bhat YR; Department of Paediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Praveen BK; Department of Pediatrics, Father Muller Medical College Hospital, Mangalore, India., Yatheesha BL; Paediatric neurology, Dheemahi Child Neurology and Development Center, Shimoga, India., Patil SJ; Division of Medical Genetics, Narayana Hrudayalaya Hospitals/Mazumdar-Shaw Medical Center, Bangalore, India., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Cochin, India., Kamath N; Department of Paediatrics, Kasturba Medical College, Mangalore, Manipal Academy of Higher Education, Manipal, India., Siddiqui S; Department of Neuro and Vascular Interventional Radiology, Yashoda Hospitals, Hyderabad, India., Bielas S; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.; Suma Genomics Private Limited, Manipal Center for Biotherapeutics Research, Manipal Academy of Higher Education, Manipal, India.; Department of Genetics, College of Medicine & Health Sciences, Sultan Qaboos University, Muscat, Oman., Sharma S; Neurology Division, Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Publikováno v: Clinical genetics [Clin Genet] 2024 Jun; Vol. 105 (6), pp. 639-654. Date of Electronic Publication: 2024 Feb 19.
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6
Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome.
Autor: Werren E; University of Michigan-Ann Arbor., LaForce G; Case Western Reserve University., Srivastava A; Sanjay Gandhi Postgraduate Institute of Medical Sciences., Perillo D; University of Michigan., Johnson K; Case Western Reserve University., Berger B; Case Western Reserve University., Regan S; University of Michigan., Pfennig C; University of Michigan., Baris S; Marmara University Hospital., de Munnik S; Radboud University Medical Centre Nijmegen., Pfundt R; Radboud University Medical Centre., Hebbar M; University of Washington., Jimenez Heredia R; CeMM Research Center for Molecular Medicine., Karakoc-Aydiner E; Marmara University Hospital., Ozen A; Marmara University Hospital., Dmytrus J; CeMM Research Centre for Molecular Medicine of the Austrian Academy of Sciences., Krolo A; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases., Corning K; Greenwood Genetic Center., Prijoles E; Greenwood Genetic Center., Louie R; Greenwood Genetic Center., Lebel R; SUNY Upstate University Hospital., Le TL; Imagine Institute, INSERM U1163, Paris Descartes University., Amiel J; Necker., Gordon C; Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine., Boztug K; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases., Girisha K; Kasturba Medical College, Manipal, Manipal Academy of Higher Education., Shukla A; Kasturba Medical College., Bielas S; University of Michigan-Ann Arbor., Schaffer A; Case Western Reserve University.
Publikováno v: Research square [Res Sq] 2023 Sep 06. Date of Electronic Publication: 2023 Sep 06.
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7
Report
Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B-related BAFopathy.
Autor: Pande S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Mascarenhas S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Venkatraman A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Bhat V; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Narayanan DL; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Siddiqui S; Department of Neuroimaging and Interventional Radiology, STAR Institute of Neurosciences, STAR hospitals, Hyderabad, India., Bielas S; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Aug; Vol. 191 (8), pp. 2175-2180. Date of Electronic Publication: 2023 Jun 20.
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8
Akademický článek
Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination.
Autor: do Rosario MC; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Kaur P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Bielas S; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Publikováno v: Clinical dysmorphology [Clin Dysmorphol] 2022 Oct 01; Vol. 31 (4), pp. 196-200. Date of Electronic Publication: 2022 Apr 19.
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9
Akademický článek
Molecular and functional heterogeneity in dorsal and ventral oligodendrocyte progenitor cells of the mouse forebrain in response to DNA damage.
Autor: Boda E; Department of Neuroscience Rita Levi-Montalcini, University of Turin, Turin, Italy. enrica.boda@unito.it.; Neuroscience Institute Cavalieri Ottolenghi (NICO), University of Turin, Regione Gonzole 10, IT-10043, Orbassano (Turin), Italy. enrica.boda@unito.it., Lorenzati M; Department of Neuroscience Rita Levi-Montalcini, University of Turin, Turin, Italy.; Neuroscience Institute Cavalieri Ottolenghi (NICO), University of Turin, Regione Gonzole 10, IT-10043, Orbassano (Turin), Italy., Parolisi R; Department of Neuroscience Rita Levi-Montalcini, University of Turin, Turin, Italy.; Neuroscience Institute Cavalieri Ottolenghi (NICO), University of Turin, Regione Gonzole 10, IT-10043, Orbassano (Turin), Italy., Harding B; Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania and Children's Hospital of Philadelphia, Philadelphia, PA, USA., Pallavicini G; Department of Neuroscience Rita Levi-Montalcini, University of Turin, Turin, Italy.; Neuroscience Institute Cavalieri Ottolenghi (NICO), University of Turin, Regione Gonzole 10, IT-10043, Orbassano (Turin), Italy., Bonfanti L; Neuroscience Institute Cavalieri Ottolenghi (NICO), University of Turin, Regione Gonzole 10, IT-10043, Orbassano (Turin), Italy.; Department of Veterinary Sciences, University of Turin, Turin, Italy., Moccia A; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA., Bielas S; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA., Di Cunto F; Department of Neuroscience Rita Levi-Montalcini, University of Turin, Turin, Italy.; Neuroscience Institute Cavalieri Ottolenghi (NICO), University of Turin, Regione Gonzole 10, IT-10043, Orbassano (Turin), Italy., Buffo A; Department of Neuroscience Rita Levi-Montalcini, University of Turin, Turin, Italy.; Neuroscience Institute Cavalieri Ottolenghi (NICO), University of Turin, Regione Gonzole 10, IT-10043, Orbassano (Turin), Italy.
Publikováno v: Nature communications [Nat Commun] 2022 Apr 28; Vol. 13 (1), pp. 2331. Date of Electronic Publication: 2022 Apr 28.
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10
Akademický článek
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.
Autor: Narayanan DL; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Udyawar D; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Kaur P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Sharma S; Department of Pediatrics (Neurology division), Lady Hardinge Medical College and Kalawati Saran Children's Hospital, New Delhi, India., Suresh N; Department of Pediatrics (Neurology division), Lady Hardinge Medical College and Kalawati Saran Children's Hospital, New Delhi, India., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin, India., do Rosario MC; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Somashekar PH; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Rao LP; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Kausthubham N; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Majethia P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Pande S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Ramesh Bhat Y; Department of Pediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Shrikiran A; Department of Pediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Bielas S; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. anju.shukla@manipal.edu.
Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Dec; Vol. 29 (12), pp. 1774-1780. Date of Electronic Publication: 2021 Jul 19.
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