Zobrazeno 1 - 10 of 14 pro vyhledávání: '"Abraham SSC"'
1
Akademický článek
SERPINF1 gene variants causing late-onset progressive deforming osteogenesis imperfecta - A study of 18 patients from India.
Autor: Selina A; Christian Medical College, Vellore, India., Kandagaddala M; Christian Medical College, Vellore, India., Kumar V; Christian Medical College, Vellore, India., Abraham SSC; Christian Medical College, Vellore, India., Danda S; Christian Medical College, Vellore, India., Madhuri V; Christian Medical College, Vellore, India.
Publikováno v: Bone reports [Bone Rep] 2023 May 26; Vol. 18, pp. 101690. Date of Electronic Publication: 2023 May 26 (Print Publication: 2023).
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2
Akademický článek
Phenotypic variability of a TREX1 variant in Aicardi-Goutieres type 1 patients from the Indian subcontinent.
Autor: Abraham SSC; Department of Clinical Genetics, Christian Medical College, Vellore, Tamil Nadu, India., Yoganathan S; Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India., Koshy B; Department of Developmental Pediatrics, Christian Medical College, Vellore, Tamil Nadu, India., Oommen SP; Department of Developmental Pediatrics, Christian Medical College, Vellore, Tamil Nadu, India., Simon A; Department of Child Health, Christian Medical College, Vellore, Tamil Nadu, India., Mathai S; Department of Child Health, Christian Medical College, Vellore, Tamil Nadu, India., Korula S; Department of Child Health, Christian Medical College, Vellore, Tamil Nadu, India., Mathew L; Department of Dermatology, Christian Medical College, Vellore, Tamil Nadu, India., Sathishkumar D; Department of Dermatology, Christian Medical College, Vellore, Tamil Nadu, India., Jasper A; Department of Radiology, Christian Medical College, Vellore, Tamil Nadu, India., George R; Department of Dermatology, Christian Medical College, Vellore, Tamil Nadu, India., Danda S; Department of Clinical Genetics, Christian Medical College, Vellore, Tamil Nadu, India. Electronic address: sdanda@cmcvellore.ac.in.
Publikováno v: European journal of medical genetics [Eur J Med Genet] 2021 Sep; Vol. 64 (9), pp. 104291. Date of Electronic Publication: 2021 Jul 22.
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3
Report
Alazami syndrome: Report of three Indian patients with phenotypic spectrum from adolescence to adulthood.
Autor: Das S; Department of Clinical Genetics, Christian Medical College, Vellore, India., Godbole K; Department of Genetics, Deenanath Mangeshkar Hospital & Research Center, Pune, India., Abraham SSC; Department of Clinical Genetics, Christian Medical College, Vellore, India., Ganesan P; Department of Clinical Genetics, Christian Medical College, Vellore, India., Kamdar P; Department of Clinical Genetics, Christian Medical College, Vellore, India., Danda S; Department of Clinical Genetics, Christian Medical College, Vellore, India.
Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2021 May; Vol. 185 (5), pp. 1606-1609. Date of Electronic Publication: 2021 Feb 11.
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4
Editorial & Opinion
Ghosal hematodiaphyseal dysplasia and response to corticosteroid therapy.
Autor: Joy P; Department of Clinical Genetics, Christian Medical College, Vellore, Tamil Nadu, India., Yoganathan S; Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India., Korula S; Department of Pediatric Endocrinology, Christian Medical College, Vellore, Tamil Nadu, India., Abraham SSC; Department of Clinical Genetics, Christian Medical College, Vellore, Tamil Nadu, India., Barney AM; Department of Clinical Genetics, Christian Medical College, Vellore, Tamil Nadu, India., Walter VM; Department of Pediatric Orthopedics, Christian Medical College, Vellore, Tamil Nadu, India., Gibikote S; Department of Radiology, Christian Medical College, Vellore, Tamil Nadu, India., Danda S; Department of Clinical Genetics, Christian Medical College, Vellore, Tamil Nadu, India.
Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Feb; Vol. 185 (2), pp. 596-599. Date of Electronic Publication: 2020 Nov 13.
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5
Akademický článek
Clinicogenetic Profile, Treatment Modalities, and Mortality Predictors of Gaucher Disease: A 15-Year Retrospective Study.
Autor: Barney AM; Department of Medical Genetics, Christian Medical College, Vellore, India., Danda S; Department of Medical Genetics, Christian Medical College, Vellore, India., Abraham A; Department of Clinical Haematology, Christian Medical College, Vellore, India., Fouzia NA; Department of Clinical Haematology, Christian Medical College, Vellore, India., Gowdra A; Department of Medical Genetics, Christian Medical College, Vellore, India., Abraham SSC; Department of Medical Genetics, Christian Medical College, Vellore, India., Sony M; Department of Medical Genetics, Christian Medical College, Vellore, India., Das S; Department of Medical Genetics, Christian Medical College, Vellore, India., Korula S; Department of Child Health, Christian Medical College, Vellore, India., Mathai S; Department of Child Health, Christian Medical College, Vellore, India., Simon A; Department of Child Health, Christian Medical College, Vellore, India., Kumar S; Department of Child Health, Christian Medical College, Vellore, India.
Publikováno v: Public health genomics [Public Health Genomics] 2021; Vol. 24 (3-4), pp. 139-148. Date of Electronic Publication: 2021 Apr 06.
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6
Akademický článek
A review on Gaucher disease: therapeutic potential of β-glucocerebrosidase-targeted mRNA/saRNA approach.
Autor: Shunping Feng, Rcheulishvili, Nino, Xiaoming Jiang, Pan Zhu, Xuehua Pan, Meilan Wei, Peng George Wang, Yang Ji, Papukashvili, Dimitri
Publikováno v: International Journal of Biological Sciences; 2024, Vol. 20 Issue 6, p2111-2129, 19p
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7
Akademický článek
Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients.
Autor: Phetthong, Tim1,2 (AUTHOR), Tim-Aroon, Thipwimol1 (AUTHOR), Khongkraparn, Arthaporn1 (AUTHOR), Noojarern, Saisuda1 (AUTHOR), Kuptanon, Chulaluck3,4 (AUTHOR), Wichajarn, Khunton5 (AUTHOR), Sathienkijkanchai, Achara6 (AUTHOR), Suphapeetiporn, Kanya7 (AUTHOR), Charoenkwan, Pimlak8 (AUTHOR), Tantiworawit, Adisak9 (AUTHOR), Noentong, Naruwan10 (AUTHOR), Wattanasirichaigoon, Duangrurdee1 (AUTHOR) duangrurdee.wat@mahidol.ac.th
Publikováno v: Orphanet Journal of Rare Diseases. 12/20/2021, Vol. 16 Issue 1, p1-10. 10p.
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9
Akademický článek
Skeletal and Non-skeletal Phenotypes in Children with Osteogenesis Imperfecta.
Autor: Marulanda J; Shriners Hospital for Children - Canada, 1003 Decarie, Montreal, QC, H4A 0A9, Canada., Retrouvey JM; Baylor College of Medicine, Houston, TX, USA., Rauch F; Shriners Hospital for Children - Canada, 1003 Decarie, Montreal, QC, H4A 0A9, Canada. frank.rauch@mcgill.ca.
Publikováno v: Calcified tissue international [Calcif Tissue Int] 2024 Aug 21. Date of Electronic Publication: 2024 Aug 21.
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10
Akademický článek
Pamidronate Response in a Novel Biallelic CREB3L1 Gene Mutation-Associated Osteogenesis Imperfecta: A Case Report.
Autor: Selina A; Department of Paediatric Orthopaedic, Christian Medical College, Vellore, Tamil Nadu, India.; Centre for Stem Cell Research, Christian Medical College, Vellore, Tamil Nadu, India.; Manipal Academy of Higher Education, Manipal, Karnataka, India., Kandagaddala M; Department of Radiology, Christian Medical College,Vellore, Tamil Nadu, India., Madhuri V; Department of Paediatric Orthopaedic, Christian Medical College, Vellore, Tamil Nadu, India.; Centre for Stem Cell Research, Christian Medical College, Vellore, Tamil Nadu, India.; Amara Hospital, Tirupati, Andhra Pradesh, India.
Publikováno v: JBJS case connector [JBJS Case Connect] 2024 Jul 26; Vol. 14 (3). Date of Electronic Publication: 2024 Jul 26 (Print Publication: 2024).
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