Sheela Nampoothiri

Sheela Nampoothiri

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Sheela Nampoothiri

Publications by authors named "Sheela Nampoothiri"

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Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta.

Am J Med Genet A 2019 Jun 21;179(6):908-914. Epub 2019 Mar 21.

Department of Biomolecular Medicine, Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61119
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http://dx.doi.org/10.1002/ajmg.a.61119DOI Listing
June 2019

Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.

Clin Genet 2019 Mar 27;95(3):398-402. Epub 2018 Nov 27.

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India.

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http://doi.wiley.com/10.1111/cge.13468
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http://dx.doi.org/10.1111/cge.13468DOI Listing
March 2019

Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1.

Bone 2019 Mar 8;120:495-503. Epub 2018 Dec 8.

Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany; Max Planck Institute for Molecular Genetics, Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S87563282183044
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http://dx.doi.org/10.1016/j.bone.2018.12.002DOI Listing
March 2019

Novel genotype-electroclinical phenotype correlations in sporadic early-onset childhood myoclonic-atonic epilepsy.

Neurol India 2019 Jan-Feb;67(1):264-267

R Madhavan Nayar Centre for Comprehensive Epilepsy Care, Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.

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http://dx.doi.org/10.4103/0028-3886.253628DOI Listing
March 2019

Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype.

Congenit Anom (Kyoto) 2019 Jan 16;59(1):26-27. Epub 2018 May 16.

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.

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http://dx.doi.org/10.1111/cga.12285DOI Listing
January 2019

Locus and allelic heterogeneity in five families with hereditary spastic paraplegia.

J Hum Genet 2019 Jan 18;64(1):17-21. Epub 2018 Oct 18.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

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http://dx.doi.org/10.1038/s10038-018-0523-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6344291PMC
January 2019

Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum.

Indian J Pediatr 2018 Dec 31;85(12):1067-1072. Epub 2018 Jan 31.

Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Center, Aims Ponekkara PO, Kochi, Kerala, 682041, India.

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http://dx.doi.org/10.1007/s12098-018-2632-1DOI Listing
December 2018

Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia.

Am J Med Genet A 2018 Dec 4;176(12):2930-2933. Epub 2018 Dec 4.

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.40658DOI Listing
December 2018

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.

Am J Hum Genet 2018 12;103(6):948-967

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; NIH Undiagnosed Diseases Program, NHGRI and the Common Fund, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288279PMC
December 2018

Extensive Extrapulvinar Calcification in Fabry Disease.

Ann Indian Acad Neurol 2018 Oct-Dec;21(4):309-310

Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.

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http://dx.doi.org/10.4103/aian.AIAN_476_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238577PMC
December 2018

Platelet parameters in children with chromosome 22q11 deletion and conotruncal heart defects.

Congenit Heart Dis 2018 May 5;13(3):483-487. Epub 2018 Mar 5.

Department of Paediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Kochi, India.

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http://dx.doi.org/10.1111/chd.12600DOI Listing
May 2018

Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report.

BMC Med Genet 2018 05 16;19(1):80. Epub 2018 May 16.

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1186/s12881-018-0597-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5956920PMC
May 2018

Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.

Hum Genet 2018 Apr 24;137(4):293-303. Epub 2018 Apr 24.

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1007/s00439-018-1882-3DOI Listing
April 2018

Elsahy-Waters syndrome is caused by biallelic mutations in CDH11.

Am J Med Genet A 2018 02 22;176(2):477-482. Epub 2017 Dec 22.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.38568DOI Listing
February 2018

Plexiform Neurofibroma of Clitoris.

J Pediatr Genet 2017 Dec 2;6(4):244-246. Epub 2017 May 2.

Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Center, Cochin, Kerala, India.

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http://dx.doi.org/10.1055/s-0037-1602789DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5683950PMC
December 2017

Osteoglophonic Dysplasia: Phenotypic and Radiological Clues.

J Pediatr Genet 2017 Dec 5;6(4):247-251. Epub 2017 May 5.

Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala, India.

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http://dx.doi.org/10.1055/s-0037-1602816DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5687321PMC
December 2017

Wolman Disease: A Mimic of Infant Leukemia.

J Pediatr Hematol Oncol 2017 11;39(8):e489-e492

Departments of *Pediatric Oncology §Imageology ∥Pathology, Regional Cancer Centre, Trivandrum †Department of Pediatric Genetics, Amrita Institute of Medical Sciences, Kochi, Kerala, India ‡Department of Pediatrics Medical Genetics, Duke Health, Durham, NC.

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http://dx.doi.org/10.1097/MPH.0000000000000861DOI Listing
November 2017

Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in .

J Pediatr Genet 2017 Sep 7;6(3):191-193. Epub 2017 Mar 7.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.1055/s-0037-1599148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548534PMC
September 2017

Jansen Metaphyseal Chondrodysplasia due to Heterozygous H223R-PTH1R Mutations With or Without Overt Hypercalcemia.

J Clin Endocrinol Metab 2016 11 13;101(11):4283-4289. Epub 2016 Jul 13.

Department of Pediatric Genetics (S.N., D.Y.), Amrita Institute of Medical Sciences and Research Center, Aims Ponekkara PO, Cochin 682041, Kerala, India; Munroe-Meyer Institute for Genetics and Rehabilitation (E.T.R.), University of Nebraska Medical Center, Omaha, Nebraska 68198; Department of Kidney Diseases (C.B.L.), Lurie Children's Hospital of Chicago and Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60611; and Endocrine Unit (E.F.-R., T.J.G., H.J.) and Pediatric Nephrology Unit (H.J.), Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114.

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http://dx.doi.org/10.1210/jc.2016-2054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5095231PMC
November 2016

Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management.

Indian J Ophthalmol 2016 Sep;64(9):620-627

SNONGC Department of Genetics and Molecular Biology, Kamal Nayan Institute for Research in Vision and Ophthalmology, Vision Research Foundation, Chennai, Tamil Nadu, India.

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http://dx.doi.org/10.4103/0301-4738.194328DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5151149PMC
September 2016

Smith-Magenis Syndrome: Face Speaks.

Indian J Pediatr 2016 Jun 17;83(6):589-93. Epub 2015 Dec 17.

Department of Medical Genetics, Sanjay Gandhi Post-Graduate Institute of Medical Sciences, Raibereli Road, Lucknow, Uttar Pradesh, 226014, India.

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http://dx.doi.org/10.1007/s12098-015-1940-yDOI Listing
June 2016

Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.

Am J Med Genet A 2016 May 20;170A(5):1216-24. Epub 2016 Jan 20.

Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.37564DOI Listing
May 2016

Prenatal diagnosis of amniotic band syndrome.

Indian J Radiol Imaging 2016 Jan-Mar;26(1):63-6

Department of Paediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Kochi, Kerala, India.

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http://dx.doi.org/10.4103/0971-3026.178329DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4813076PMC
April 2016

Prenatal detection of congenital high airway obstruction syndrome with encephalocele.

Indian J Radiol Imaging 2016 Jan-Mar;26(1):70-2

Department of Paediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Kochi, Kerala, India.

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http://dx.doi.org/10.4103/0971-3026.178336DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4813078PMC
April 2016

Genotype-phenotype analysis of von Hippel-Lindau syndrome in fifteen Indian families.

Fam Cancer 2015 Dec;14(4):585-94

Department of Neurosurgery, Amrita Institute of Medical Sciences and Research Center, AIMS Ponekkara P.O., Kochi, 682041, India.

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http://dx.doi.org/10.1007/s10689-015-9806-zDOI Listing
December 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Expanding the spectrum of mutations in Indian patients with Tay-Sachs disease.

Mol Genet Metab Rep 2014 29;1:425-430. Epub 2014 Sep 29.

Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380015, India.

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https://linkinghub.elsevier.com/retrieve/pii/S22144269140006
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http://dx.doi.org/10.1016/j.ymgmr.2014.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121347PMC
September 2014

Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene.

Eur Radiol 2014 Aug 17;24(8):1742-8. Epub 2014 May 17.

Department of Radiology, Amrita Institute of Medical Sciences, AIMS (PO), Ernakulam, India, 682041,

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http://dx.doi.org/10.1007/s00330-014-3205-yDOI Listing
August 2014

Cardiac spectrum, cytogenetic analysis and thyroid profile of 418 children with Down syndrome from South India: a cross-sectional study.

Indian J Pediatr 2014 Jun 10;81(6):547-51. Epub 2013 Aug 10.

Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Center, Aims Ponekkara PO, Cochin, 682041, Kerala, India.

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http://dx.doi.org/10.1007/s12098-013-1088-6DOI Listing
June 2014

Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.

Nephron Physiol 2011 18;119(3):p31-9. Epub 2011 Aug 18.

Department of Pediatrics, Talpiot Medical Leadership Program, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1159/000329668DOI Listing
April 2014

Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.

J Hum Genet 2014 Apr 13;59(4):223-8. Epub 2014 Feb 13.

Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, Ahmedabad, India.

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http://dx.doi.org/10.1038/jhg.2014.5DOI Listing
April 2014

Recurrence of Angelman syndrome in siblings: challenges in genetic counseling.

Indian J Pediatr 2014 Mar 28;81(3):292-5. Epub 2013 Nov 28.

Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Aims Ponekkara PO, Cochin, 682041, Kerala, India.

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http://dx.doi.org/10.1007/s12098-013-1292-4DOI Listing
March 2014

Acampomelic form of campomelic dysplasia with SOX9 missense mutation.

Indian J Pediatr 2014 Jan 7;81(1):98-100. Epub 2013 Apr 7.

Department of Pediatrics and Neonatology, Amrita Institute of Medical Sciences and Researh Centre, Cochin, Kerala, India.

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http://dx.doi.org/10.1007/s12098-013-1007-xDOI Listing
January 2014

Multifocal Tuberculous osteomyelitis: possible inherited interferon gamma axis defect.

Indian J Pediatr 2013 Jun 29;80(6):505-8. Epub 2012 Feb 29.

Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Aims Ponekkara PO, Cochin 682041, Kerala, India.

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http://dx.doi.org/10.1007/s12098-012-0720-1DOI Listing
June 2013

Nail-patella syndrome-a novel mutation in the LMX1B gene.

Clin Kidney J 2013 Jun 25;6(3):305-7. Epub 2013 Apr 25.

Department of Nephrology , Government Medical College , Kottayam, Kerala, India.

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http://dx.doi.org/10.1093/ckj/sft035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4400480PMC
June 2013

Sirenomelia: case reports and current concepts of pathogenesis.

Pediatr Dev Pathol 2012 Sep-Oct;15(5):403-6. Epub 2012 Jul 20.

Department of Anatomy, Amrita Institute of Medical Sciences and Research Center, Ponekkara, Kerala, India.

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http://dx.doi.org/10.2350/12-05-1199-CC.1DOI Listing
April 2013

Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation.

Indian J Hum Genet 2012 May;18(2):233-4

Department of Pediatrics, Medical College, Calicut, Kerala, India.

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http://dx.doi.org/10.4103/0971-6866.100776DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3491300PMC
May 2012

Fanconi-Bickel syndrome.

Indian J Pediatr 2012 Jan 15;79(1):112-4. Epub 2011 Feb 15.

Department of Pediatrics, Medical College, Calicut, Kerala, India.

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http://dx.doi.org/10.1007/s12098-011-0373-5DOI Listing
January 2012

Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs.

Am J Med Genet A 2011 Oct 9;155A(10):2465-8. Epub 2011 Sep 9.

Amrita Institute of Medical Sciences & Research Center, Department of Pediatric Genetics, AIMS Ponekkara, Cochin, Kerala, India.

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http://dx.doi.org/10.1002/ajmg.a.34205DOI Listing
October 2011

Lipoprotein lipase deficiency in an infant.

Indian Pediatr 2011 Oct;48(10):805-6

Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala, India.

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October 2011

Characterization of sSMC by FISH and molecular techniques.

Eur J Med Genet 2011 May-Jun;54(3):247-55. Epub 2011 Mar 3.

Institute of Human Genetics, Foundation for Research In Genetics and Endocrinology, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad 380 015, India.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212110001
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http://dx.doi.org/10.1016/j.ejmg.2011.01.011DOI Listing
September 2011

Congenital myotonic dystrophy with asymptomatic mother.

Indian Pediatr 2011 Jul;48(7):565-7

Department of Neonatology, Lakshmi Hospital, Cochin, Kerala, India.

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July 2011

Analysis of mutations and recombination activity in RAG-deficient patients.

Clin Immunol 2011 Feb 4;138(2):172-7. Epub 2010 Dec 4.

Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, Japan.

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http://dx.doi.org/10.1016/j.clim.2010.11.005DOI Listing
February 2011

Nevus comedonicus syndrome--nevus comedonicus associated with ipsilateral polysyndactyly and bilateral oligodontia.

Pediatr Dermatol 2010 Jul-Aug;27(4):377-9

Department of Dermatology, Amrita Institute of Medical Sciences, Kochi, Kerala, India.

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http://dx.doi.org/10.1111/j.1525-1470.2010.01170.xDOI Listing
November 2010

An Indian family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation.

Int J Dermatol 2010 Sep;49(9):1031-3

Department of Dermatology, Hokkaido University Graduate School of Medicine, Kita-ku, Sapporo, Japan.

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http://dx.doi.org/10.1111/j.1365-4632.2010.04482.xDOI Listing
September 2010

Carbonic anhydrase II deficiency a novel mutation.

Indian Pediatr 2009 Jun;46(6):532-4

Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Aims Ponekkara, PO, Cochin, Kerala, India; and Metabolic Disease Unit, Safra Children Hospital, Sheba Medical Center, Tel Hashomer, Israel.

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June 2009

Sly Disease: Mucopolysaccharidosis Type VII.

Indian Pediatr 2008 Oct;45(10):859-61

Department of Pediatric Genetics,Pediatric Cardiology, and Pathology, Amrita Institute of Medical Sciences and Research Center, Elamakkara PO, Cochin 682 026,Kerala, India.

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October 2008

Partial trisomy 9q due to maternal 9q 17q translocation.

Indian Pediatr 2008 Jul;45(7):595-8

Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Elamakkara PO, Cochin 682 026, Kerala, India.

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July 2008

Images in cardiovascular medicine. Arterial tortuosity syndrome: phenotypic features and cardiovascular manifestations.

Circulation 2008 Jun;117(23):e477-8

Department of Pediatric Cardiology, Amrita Institute of Medical Sciences and Research Centre, Amrita Lane, Elamakkara PO, Kochi, Kerala, India.

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https://www.ahajournals.org/doi/10.1161/CIRCULATIONAHA.107.7
Publisher Site
http://dx.doi.org/10.1161/CIRCULATIONAHA.107.739839DOI Listing
June 2008