Year : 2019
Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients.
Cite this Research Publication : S. Nampoothiri, Elcioglu, N. H., Koca, S. S., Dhanya Yesodharan, Kk, C., Dr. Vinod Krishnan, Bhat, M., Natasha Radhakrishnan, Kappanayil, M., Sheth, J. J., Alves, S., Coutinho, F., Friez, M. J., Pauli, R. M., Unger, S., Superti-Furga, A., Leroy, J. G., and Cathey, S. S., “Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients.”, Clin Dysmorphol, vol. 28, no. 1, pp. 7-16, 2019.
Publisher : Clin Dysmorphol
Year : 2019
Ptosis as a Unique Hallmark for Autosomal Recessive WNT1-associated Osteogenesis Imperfecta
Cite this Research Publication : Dr. Sheela Nampoothiri, Guillemyn, B., Elcioglu, N., Jagadeesh, S., Dhanya Yesodharan, Suresh, B., Turan, S., Symoens, S., and Malfait, F., “Ptosis as a Unique Hallmark for Autosomal Recessive WNT1-associated Osteogenesis Imperfecta”, Am J Med Genet A, vol. 179, no. 6, pp. 908-914, 2019.
Publisher : Am J Med Genet A
Year : 2019
Novel Genotype-electroclinical Phenotype Correlations in Sporadic Early-onset Childhood Myoclonic-atonic Epilepsy
Cite this Research Publication : S. P. Babu, Menon, R. N., Asranna, A., Dr. Sheela Nampoothiri, Radhakrishnan, A., Cherian, A., and Thomas, S. V., “Novel Genotype-electroclinical Phenotype Correlations in Sporadic Early-onset Childhood Myoclonic-atonic Epilepsy”, Neurol India, vol. 67, no. 1, pp. 264-267, 2019.
Publisher : Neurol India
Year : 2019
Multi-gene Testing in Neurological Disorders Showed an Improved Diagnostic Yield: Data from Over 1000 Indian Patients.
Cite this Research Publication : A. Ganapathy, Mishra, A., Soni, M. Rani, Kumar, P., Sadagopan, M., Kanthi, A. Vittal, Patric, I. Rosetta Pi, Sobha George, Sridharan, A., Thyagarajan, T. C., Aswathy, S. L., Vidya, H. K., Chinnappa, S. M., Nayanala, S., Prakash, M. B., Raghavendrachar, V. G., Parulekar, M., Gowda, V. K., Dr. Sheela Nampoothiri, Menon, R. N., Pachat, D., Udani, V., Naik, N., Kamate, M., A Devi, R. Rama, Kunju, P. A. Mohammed, Nair, M., Hegde, A. Udwadia, M Kumar, P., Sundaram, S., Tilak, P., Puri, R. D., Shah, K., Sheth, J., Hasan, Q., Sheth, F., Agrawal, P., Katragadda, S., Veeramachaneni, V., Chandru, V., Hariharan, R., and Mannan, A. U., “Multi-gene Testing in Neurological Disorders Showed an Improved Diagnostic Yield: Data from Over 1000 Indian Patients.”, J Neurol, 2019.
Publisher : J Neurol
Year : 2019
Variants in the Transcriptional Corepressor BCORL1 are Associated with an X-linked Disorder of Intellectual Disability, Dysmorphic Features, and Behavioral Abnormalities
Cite this Research Publication : A. Shukla, Girisha, K. M., Somashekar, P. H., Dr. Sheela Nampoothiri, McClellan, R., and Vernon, H. J., “Variants in the Transcriptional Corepressor BCORL1 are Associated with an X-linked Disorder of Intellectual Disability, Dysmorphic Features, and Behavioral Abnormalities”, Am J Med Genet A, vol. 179, no. 5, pp. 870-874, 2019.
Publisher : Am J Med Genet A
Year : 2019
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and Advances of New Therapeutics
Cite this Research Publication : K. A. Rauen, Alsaegh, A., Ben-Shachar, S., Berman, Y., Blakeley, J., Cordeiro, I., Elgersma, Y., D Evans, G., Fisher, M. J., Frayling, I. M., George, J., Huson, S. M., Kerr, B., Khire, U., Korf, B., Legius, E., Messiaen, L., van Minkelen, R., Dr. Sheela Nampoothiri, Ngeow, J., Parada, L. F., Phadke, S., Pillai, A., Plotkin, S. R., Puri, R., Raji, A., Ramesh, V., Ratner, N., Shankar, S. P., Sharda, S., Tambe, A., Vikkula, M., Widemann, B. C., Wolkenstein, P., and Upadhyaya, M., “First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and Advances of New Therapeutics”, Am J Med Genet A, vol. 179, no. 6, pp. 1091-1097, 2019.
Publisher : Am J Med Genet A
Year : 2019
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.
Cite this Research Publication : H. Ryung Chang, Cho, S. Yoon, Lee, J. Hoon, Lee, E., Seo, J., Lee, H. Ran, Cavalcanti, D. P., Mäkitie, O., Valta, H., Girisha, K. M., Lee, C., Neethukrishna, K., Bhavani, G. S., Shukla, A., Dr. Sheela Nampoothiri, Phadke, S. R., Park, M. Jung, Ikegawa, S., Wang, Z., Higgs, M. R., Stewart, G. S., Jung, E., Lee, M. - S., Park, J. Hoon, Lee, E. A., Kim, H., Myung, K., Jeon, W., Lee, K., Kim, D., Kim, O. - H., Choi, M., Lee, H. - W., Kim, Y., and Cho, T. - J., “Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.”, Am J Hum Genet, vol. 104, no. 3, pp. 439-453, 2019.
Publisher : Am J Hum Genet
Year : 2019
Gaucher Disease: Single Gene Molecular Characterization of One-hundred Indian Patients Reveals Novel Variants and the Most Prevalent Mutation
Cite this Research Publication : J. Sheth, Bhavsar, R., Mistri, M., Pancholi, D., Bavdekar, A., Dalal, A., Ranganath, P., Girisha, K. M., Shukla, A., Phadke, S., Puri, R., Panigrahi, I., Kaur, A., Muranjan, M., Goyal, M., Ramadevi, R., Shah, R., Dr. Sheela Nampoothiri, Danda, S., Datar, C., Kapoor, S., Bhatwadekar, S., and Sheth, F., “Gaucher Disease: Single Gene Molecular Characterization of One-hundred Indian Patients Reveals Novel Variants and the Most Prevalent Mutation”, BMC Med Genet, vol. 20, no. 1, p. 31, 2019.
Publisher : BMC Med Genet
Year : 2018
Extensive Extrapulvinar Calcification in Fabry Disease.
Cite this Research Publication : J. Baishya, Kesav, P., Dr. Sheela Nampoothiri, Sreedharan, S. Erat, and Sylaja, P. N., “Extensive Extrapulvinar Calcification in Fabry Disease.”, Ann Indian Acad Neurol, vol. 21, no. 4, pp. 309-310, 2018.
Publisher : Ann Indian Acad Neurol .
Year : 2018
Mitochondrial Acetoacetyl-CoA Thiolase Enzyme Deficiency in a 9-month Old Boy: Atypical Urinary Metabolic Profile with a Novel Homozygous Mutation in ACAT1 Gene
Cite this Research Publication : S. Sundaram, Nair, M., Dr. Sheela Nampoothiri, and Menon, R. N., “Mitochondrial Acetoacetyl-CoA Thiolase Enzyme Deficiency in a 9-month Old Boy: Atypical Urinary Metabolic Profile with a Novel Homozygous Mutation in ACAT1 Gene”, Neurol India, vol. 66, no. 6, pp. 1802-1804, 2018.
Publisher : Neurol India .
Year : 2018
Elsahy-Waters syndrome is caused by biallelic mutations in CDH11.
Cite this Research Publication : F. L. Harms, Nampoothiri, S., Anazi, S., Dhanya Yesodharan, Alawi, M., Kutsche, K., and Alkuraya, F. S., “Elsahy-Waters syndrome is caused by biallelic mutations in CDH11.”, Am J Med Genet A, vol. 176, no. 2, pp. 477-482, 2018.
Publisher : Am J Med Genet A
Year : 2017
Plexiform Neurofibroma of Clitoris.
Cite this Research Publication : Dhanya Yesodharan, Sudarsanan, B., Jojo, A., Abraham, M., Bhavani, N., Mathews, H., and Nampoothiri, S., “Plexiform Neurofibroma of Clitoris.”, J Pediatr Genet, vol. 6, no. 4, pp. 244-246, 2017.
Publisher : J Pediatr Genet
Year : 2017
Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in .
Cite this Research Publication : S. Nampoothiri, Hebbar, M., Roy, A. Grace, Kochumon, S. P., Bielas, S., Shukla, A., and Girisha, K. M., “Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in .”, J Pediatr Genet, vol. 6, no. 3, pp. 191-193, 2017.
Publisher : J Pediatr Genet
Year : 2017
WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.
Cite this Research Publication : K. Yokote, Chanprasert, S., Lee, L., Eirich, K., Takemoto, M., Watanabe, A., Koizumi, N., Lessel, D., Mori, T., Hisama, F. M., Ladd, P. D., Angle, B., Baris, H., Cefle, K., Palanduz, S., Ozturk, S., Chateau, A., Deguchi, K., Easwar, T. K. M., Federico, A., Fox, A., Grebe, T. A., Hay, B., Nampoothiri, S., Seiter, K., Streeten, E., Piña-Aguilar, R. E., Poke, G., Poot, M., Posmyk, R., Martin, G. M., Kubisch, C., Schindler, D., and Oshima, J., “WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.”, Hum Mutat, vol. 38, no. 1, pp. 7-15, 2017.
Publisher : Hum Mutat,
Year : 2016
Heterozygous Complete NIPBL Gene Deletion in Cornelia de Lange Syndrome: First Case Report from India
Cite this Research Publication : S. Bajaj, Nampoothiri, S., Yesodharan, D., Gambhir, P., and Ranade, S., “Heterozygous Complete NIPBL Gene Deletion in Cornelia de Lange Syndrome: First Case Report from India”, International Journal of Human Genetics, vol. 16, pp. 61-69, 2016.
Publisher : International Journal of Human Genetics, Routledge.
Year : 2016
Characterization of Greater Middle Eastern Genetic Variation for Enhanced Disease Gene Discovery
Cite this Research Publication : S. EM, A, H., Y, I., and S, N., “Characterization of Greater Middle Eastern Genetic Variation for Enhanced Disease Gene Discovery”, Nat Genet. , vol. 48, no. 9, pp. 1071-6, 2016.
Publisher : Nat Genet.
Year : 2016
Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber’s Disease.
Cite this Research Publication : L. Bonafé, Kariminejad, A., Li, J., Royer-Bertrand, B., Garcia, V., Mahdavi, S., Bozorgmehr, B., Lachman, R. L., Mittaz-Crettol, L., Campos-Xavier, B., Nampoothiri, S., Unger, S., Rivolta, C., Levade, T., and Superti-Furga, A., “Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease.”, Arthritis Rheumatol, vol. 68, no. 9, pp. 2323-7, 2016.
Publisher : Arthritis Rheumatol
Year : 2016
Smith-Magenis Syndrome: Face Speaks.
Cite this Research Publication : R. Gupta, Gupta, N., Nampoothiri, S., Mandal, K., Kishore, Y., Sharma, P., Kabra, M., and Phadke, S. R., “Smith-Magenis Syndrome: Face Speaks.”, Indian J Pediatr, vol. 83, no. 6, pp. 589-93, 2016.
Publisher : Indian J Pediatr
Year : 2016
Prenatal diagnosis of amniotic band syndrome.
Cite this Research Publication : L. Devi Padmanabhan, Hamza, Z. V., Thampi, M. Venugopala, and Nampoothiri, S., “Prenatal diagnosis of amniotic band syndrome.”, Indian J Radiol Imaging, vol. 26, no. 1, pp. 63-6, 2016.
Publisher : Indian J Radiol Imaging
Year : 2016
Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.
Cite this Research Publication : A. Uttarilli, Ranganath, P., Matta, D., J Jain, M. Nurul, Prasad, K., Babu, A. S., Girisha, K. M., Verma, I. C., Phadke, S. R., Mandal, K., Puri, R. D., Aggarwal, S., Danda, S., Sankar, V. H., Kapoor, S., Bhat, M., Gowrishankar, K., Hasan, A. Q., Nair, M., Nampoothiri, S., and Dalal, A., “Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.”, Clin Genet, vol. 90, no. 6, pp. 496-508, 2016.
Publisher : Clin Genet
Year : 2015
Molecular Genetic Testing for Carrier-Prenatal Diagnosis and Computational Analysis of Oculocutaneous Albinism Type 1
Cite this Research Publication : K. Renugadevi, Mary, J. Asnet, Perumalsamy, V., Seshadri, S., Jagadeesh, S., Suresh, B., Dr. Sheela Nampoothiri, Shenbagarathai, R., Krishnaswamy, S., and Sundaresan, P., “Molecular Genetic Testing for Carrier-Prenatal Diagnosis and Computational Analysis of Oculocutaneous Albinism Type 1”, Genetic Disorders & Genetic Reports, vol. 2014, 2015.
Publisher : Genetic Disorders Genetic Reports
Year : 2014
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease
Cite this Research Publication : C. Ankleshwaria, Mistri, M., Bavdekar, A., Muranjan, M., Dave, U., Tamhankar, P., Khanna, V., Jasinge, E., Dr. Sheela Nampoothiri, and Kadangot, S. Edayankara, “Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease”, Journal of human genetics, vol. 59, pp. 223–228, 2014.
Publisher : Journal of human genetics
Year : 2014
Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: a study in 203 Indian patients
Cite this Research Publication : V. R. Boggula, Shukla, A., Danda, S., Hariharan, S. V., Dr. Sheela Nampoothiri, Kumar, R., Phadke, S. R., and , “Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: a study in 203 Indian patients”, The Indian journal of medical research, vol. 139, p. 66, 2014.
Publisher : The Indian journal of medical research
Year : 2014
Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene
Cite this Research Publication : Dr. Rajesh kannan, Dr. Mahesh K., Dr. Sheela Nampoothiri, Malfait, F., De Paepe, A., Moorthy, S., and , “Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene”, European radiology, vol. 24, pp. 1742–1748, 2014.
Publisher : European radiology
Year : 2014
Expanding the spectrum of HEXA mutations in Indian patients with Tay–Sachs disease
Cite this Research Publication : J. Sheth, Mistri, M., Datar, C., Kalane, U., Patil, S., Kamate, M., Shah, H., Dr. Sheela Nampoothiri, Gupta, S., and Sheth, F., “Expanding the spectrum of HEXA mutations in Indian patients with Tay–Sachs disease”, Molecular Genetics and Metabolism Reports, vol. 1, pp. 425–430, 2014.
Publisher : Molecular Genetics and Metabolism Reports
Year : 2013
Michael Bjorn Petersen and Anne De Paepe, Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome
Cite this Research Publication : F. Malfait, Symoens, S., Goemans, N., Gyftodimou, Y., Holmberg, E., López-González, V., Mortier, G., Nampoothiri, S., Petersen, M. Bjorn, and De Paepe, A., “Michael Bjorn Petersen and Anne De Paepe, Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome”, Orphanet Journal of Rare Diseases, vol. 8, 2013.
Publisher : Orphanet Journal of Rare Diseases
Year : 2013
Ethnic-specific WRN mutations in South Asian Werner syndrome patients: potential founder effect in patients with Indian or Pakistani ancestry. Molecular Genetics & Genomic Medicine
Cite this Research Publication : B. Saha, Lessel, D., Nampoothiri, S., Rao, A. S., M, F., ,, Peter, D., Bennett, C., N€urnberg, G., N€urnberg, P., Martin, G. M., Kubisch, C., and Oshima, J., “Ethnic-specific WRN mutations in South Asian Werner syndrome patients: potential founder effect in patients with Indian or Pakistani ancestry. Molecular Genetics & Genomic Medicine”, Molecular Genetics & Genomic Medicine, pp. 7–14, 2013.
Publisher : Molecular Genetics & Genomic Medicine, p. 7–14
Year : 2012
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals
Cite this Research Publication : NaGarcia Segarra, Mittaz, La, Campos-Xavier, A. Ba, Bartels, C. Fb, Tuysuz, Bc, Alanay, Yd, Cimaz, Re, Cormier-Daire, Vf, Di Rocco, Mg, Duba, H. - Ch, Elcioglu, N. Hi, Forzano, Fj, Hospach, Tk, Kilic, El, Kuemmerle-Deschner, J. Bm, Mortier, Gn, Mrusek, So, Nampoothiri, Sp, Obersztyn, Eq, Pauli, R. Mr, Selicorni, As, Tenconi, Rt, Unger, Su, Utine, G. El, Wright, Mv, Zabel, Bw, Warman, M. Lx, Superti-Furga, Ay, and Bonafé, La, “The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals”, American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, vol. 160 C, pp. 217-229, 2012.
Publisher : American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Year : 2012
Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis
Cite this Research Publication : Mai Kappanayil, Nampoothiri, Sb, Kannan, Rc, Renard, Md, Coucke, Pd, Malfait, Fd, Menon, Se, Ravindran, H. Kf, Kurup, Rg, Faiyaz-Ul-Haque, Mh, Kumar, Ka, and De Paepe, Ad, “Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis”, Orphanet Journal of Rare Diseases, vol. 7, 2012.
Publisher : Orphanet Journal of Rare Diseases
Year : 2012
Crigler-najjar syndrome type 2: Novel UGT1A1 mutation
Cite this Research Publication : Pa Lohse, Nair, Kb, and Nampoothiri, Sc, “Crigler-najjar syndrome type 2: Novel UGT1A1 mutation”, Indian Journal of Human Genetics, vol. 18, pp. 233-234, 2012.
Publisher : Indian Journal of Human Genetics
Year : 2012
Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia
Cite this Research Publication : Aa Dalal, Bhavani, S. La, Togarrati, P. Pa, Bierhals, Tb, Nandineni, M. Rc, Danda, Sd, Danda, De, Shah, Hf, Vijayan, Sf, Gowrishankar, Kg, Phadke, S. Rh, Bidchol, A. Mi, Rao, A. Pj, Nampoothiri, Sk, Kutsche, Kb, and Girisha, K. Mi, “Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia”, American Journal of Medical Genetics, Part A, vol. 158 A, pp. 2820-2828, 2012.
Publisher : American Journal of Medical Genetics, Part A
Year : 2012
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome
Cite this Research Publication : Aab Putoux, Nampoothiri, Sc, Laurent, Nd, Cormier-Daire, Vab e, Beales, P. Lf, Schinze, Ag, Bartholdi, Dg, Alby, Cab h, Thomas, Se, Elkhartoufi, Ne, Ichkou, Ae, Litzler, Je, Munnich, Aab e, Encha-Razavi, Fab e, Kannan, Ri, Faivre, Ljk, Boddaert, Nbl, Rauch, Ag, Vekemans, Mab e, and Attié-Bitach, Tab e, “Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome”, Journal of Medical Genetics, vol. 49, pp. 713-720, 2012.
Publisher : Journal of Medical Genetics
Year : 2012
Fanconi-bickel Syndrome
Cite this Research Publication : KaMohandas Nair, Sakamoto, Ob, Jagadeesh, Sc, and Nampoothiri, Sd, “Fanconi-bickel Syndrome”, Indian Journal of Pediatrics, vol. 79, pp. 112-114, 2012.
Publisher : Indian Journal of Pediatrics
Year : 2012
Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia
Cite this Research Publication : Ma Simon, Campos-Xavier, A. Bb, Mittaz-Crettol, Lb, Valadares, E. Rc, Carvalho, Dd, Speck-Martins, C. Ed, Nampoothiri, Se, Alanay, Yf, Mihci, Eg, van Bever, Yh, Garcia-Segarra, Nb, Cavalcanti, Dh, Mortier, Gi, Bonafé, Lb, and Superti-Furga, Ab, “Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia”, American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, vol. 160 C, pp. 230-237, 2012.
Publisher : American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Year : 2012
3-M syndrome lead to disordered growth factor signaling
Cite this Research Publication : H. D, Murray, P. G., Coulson, T., Sud, A., Omokanye, A., Stratta, E., Sakhinia, F., Bonshek, C., Wilson, L. C., Wakeling, E., Temtamy, S. A., ,, ,, Mansour, S., Carcavill, A., Nampoothiri, S., Khan, W. I., Banerjee, I., Chandle, K. E., Black, G. C. M., and Clayton, P. E., “3-M syndrome lead to disordered growth factor signaling”, Journal of Molecular Endocrinology, pp. 267–275, 2012.
Publisher : Journal of Molecular Endocrinology
Year : 2011
Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP
Cite this Research Publication : L. E. L. Ma Vissers, Lausch, Eb, Unger, Sbc, Campos-Xavier, A. Bd, Gilissen, Ca, Rossi, Ae, Del Rosario, Ma, Venselaar, Hf, Knoll, Ug, Nampoothiri, Sh, Nair, Mi, Spranger, Jb, Brunner, H. Ga, Bonafé, Ld, Veltman, J. Aa, Zabel, Bb, and Superti-Furga, Abd, “Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP”, American Journal of Human Genetics, vol. 88, pp. 608-615, 2011.
Publisher : American Journal of Human Genetics
Year : 2011
Familial autosomal recessive renal tubular acidosis: Importance of early diagnosis
Cite this Research Publication : Aab Vivante, Lotan, Dc, Pode-Shakked, Nb, Landau, De, Svec, Pf, Nampoothiri, Sg, Verma, Ih, Abu-Libdeh, Ai, Bockenhauer, Dj, Dekel, Bab, and Anikster, Yd, “Familial autosomal recessive renal tubular acidosis: Importance of early diagnosis”, Nephron - Physiology, vol. 119, pp. p31-p39, 2011.
Publisher : Nephron - Physiology
Year : 2011
Lipoprotein lipase deficiency in an infant
Cite this Research Publication : Sa Nampoothiri, Radhakrishnan, Nb, Schwentek, Ac, and Hoffmann, M. Ma, “Lipoprotein lipase deficiency in an infant”, Indian Pediatrics, vol. 48, pp. 805-806, 2011.
Publisher : Indian Pediatrics
Year : 2011
Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs
Cite this Research Publication : Sa Nampoothiri, Kuthiroly, Sa, Fauth, Cb, Krabichler, Bb, Attie-Bitach, Tc, and Hennekam, R. Cd, “Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs”, American Journal of Medical Genetics, Part A, vol. 155, pp. 2465-2468, 2011.
Publisher : American Journal of Medical Genetics
Year : 2011
Congenital myotonic dystrophy with asymptomatic mother
Cite this Research Publication : K. Ma Anand, Biradar, V. Ma, Panicker, J. Nb, and Nampoothiri, Sc, “Congenital myotonic dystrophy with asymptomatic mother”, Indian Pediatrics, vol. 48, pp. 565-567, 2011.
Publisher : Indian Pediatrics
Year : 2011
Characterization of sSMC by FISH and molecular techniques
Cite this Research Publication : Fa Sheth, Andrieux, Jb, Ewers, Ec, Kosyakova, Nc, Weise, Ac, Sheth, Hd, Romana, S. - Pe, LeLorc'h, Me, Delobel, Bf, Theisen, Of, Liehr, Tc, Nampoothiri, Sg, and Sheth, Ja, “Characterization of sSMC by FISH and molecular techniques”, European Journal of Medical Genetics, vol. 54, pp. 247-255, 2011.
Publisher : European Journal of Medical Genetics
Year : 2011
Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA
Cite this Research Publication : Pab Edery, Marcaillou, Cc, Sahbatou, Md, Labalme, Aa, Chastang, Ja, Touraine, Re, Tubacher, Ed, Senni, Fa, Bober, M. Bf, Nampoothiri, Sg, Jouk, P. - Shi, Steichen, Ej, Berland, Skl, Toutain, Amn, Wise, C. Ao, Sanlaville, Dab, Rousseau, Fc, Clerget-Darpoux, Fpq, and Leutenegger, A. - Lrs, “Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA”, Science, vol. 332, pp. 240-243, 2011.
Publisher : Science
Year : 2011
Analysis of mutations and recombination activity in RAG-deficient patients
Cite this Research Publication : Ea Asai, Wada, Ta, Sakakibara, Ya, Toga, Aa, Toma, Ta, Shimizu, Tb, Nampoothiri, Sc, Imai, Kd, Nonoyama, Sd, Morio, Te, Muramatsu, Hf, Kamachi, Yf, Ohara, Og, and Yachie, Aa, “Analysis of mutations and recombination activity in RAG-deficient patients”, Clinical Immunology, vol. 138, pp. 172-177, 2011.
Publisher : Clinical Immunology
Year : 2010
Phenotype and natural history in Marshall-Smith syndrome
Cite this Research Publication : A. Ca Shaw, Van Balkom, I. Dbc, Bauer, Md, Cole, T. Re, Delrue, Mf, Van Haeringen, Ag, Holmberg, Eh, Knight, S. Ji, Mortier, Gj, Nampoothiri, Sk, Pušeljić, Sl, Zenker, Mm, Cormier-Daire, Vn, and Hennekam, R. Co, “Phenotype and natural history in Marshall-Smith syndrome”, American Journal of Medical Genetics, Part A, vol. 152, pp. 2714-2726, 2010.
Publisher : American Journal of Medical Genetics
Year : 2010
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features
Cite this Research Publication : Sab Unger, Lausch, Ea, Rossi, Ac, Mégarbané, Ad, Sillence, De, Alcausin, Me, Aytes, Af, Mendoza-Londono, Rg, Nampoothiri, Sh, Afroze, Bi, Hall, Bj, Lo, I. Fk, Lam, S. Tl, Hoefele, Jm, Rost, Im, Wakeling, En, Mangold, Eo, Godbole, Kp, Vatanavicharn, Nq, Franco, L. Mr, Chandler, Ks, Hollander, Sa, Velten, Ta, Reicherter, Ka, Spranger, Ja, Robertson, St, Bonafé, Lu, Zabel, Bab, and Superti-Furga, Aa, “Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features”, American Journal of Medical Genetics, Part A, vol. 152 A, pp. 2543-2549, 2010.
Publisher : American Journal of Medical Genetics, Part A
Year : 2010
Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene
Cite this Research Publication : Fa Malfait, Syx, Da, Vlummens, Pa, Symoens, Sa, Nampoothiri, Sb, Hermanns-Lê, Tc, Van Laer, La, and De Paepe, Aa, “Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene”, Human Mutation, vol. 31, pp. 1233-1239, 2010.
Publisher : Human Mutation
Year : 2010
An Indian family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation
Cite this Research Publication : Ka Sakai, Akiyama, Ma, Yanagi, Ta, Nampoothiri, Sb, Mampilly, Tc, Sunitha, Vb, and Shimizu, Ha, “An Indian family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation”, International Journal of Dermatology, vol. 49, pp. 1031-1033, 2010.
Publisher : International Journal of Dermatology
Year : 2010
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a sotos-like or a Marshall-Smith Syndrome
Cite this Research Publication : Va Malan, Rajan, Db, Thomas, Sa, Shaw, A. Cc, Picard, HaLouis Dit, Layet, Vd, Till, Me, Van Haeringen, Af, Mortier, Gg, Nampoothiri, Sh, Pušeljić, Si, Legeai-Mallet, La, Carter, N. Pb, Vekemans, Ma, Munnich, Aa, Hennekam, R. Cj, Colleaux, La, and Cormier-Daire, Va, “Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a sotos-like or a Marshall-Smith Syndrome”, American Journal of Human Genetics, vol. 87, pp. 189-198, 2010.
Publisher : American Journal of Human Genetics