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Items: 1 to 50 of 118

1.

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

Nampoothiri S, Guillemyn B, Elcioglu N, Jagadeesh S, Yesodharan D, Suresh B, Turan S, Symoens S, Malfait F.

Am J Med Genet A. 2019 Mar 21. doi: 10.1002/ajmg.a.61119. [Epub ahead of print]

PMID:
30896082
2.

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

Babu SP, Menon RN, Asranna A, Nampoothiri S, Radhakrishnan A, Cherian A, Thomas SV.

Neurol India. 2019 Jan-Feb;67(1):264-267. doi: 10.4103/0028-3886.253628. No abstract available.

3.

Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.

Chang HR, Cho SY, Lee JH, Lee E, Seo J, Lee HR, Cavalcanti DP, Mäkitie O, Valta H, Girisha KM, Lee C, Neethukrishna K, Bhavani GS, Shukla A, Nampoothiri S, Phadke SR, Park MJ, Ikegawa S, Wang Z, Higgs MR, Stewart GS, Jung E, Lee MS, Park JH, Lee EA, Kim H, Myung K, Jeon W, Lee K, Kim D, Kim OH, Choi M, Lee HW, Kim Y, Cho TJ.

Am J Hum Genet. 2019 Mar 7;104(3):439-453. doi: 10.1016/j.ajhg.2019.01.009. Epub 2019 Feb 14.

PMID:
30773278
4.

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.

Sheth J, Bhavsar R, Mistri M, Pancholi D, Bavdekar A, Dalal A, Ranganath P, Girisha KM, Shukla A, Phadke S, Puri R, Panigrahi I, Kaur A, Muranjan M, Goyal M, Ramadevi R, Shah R, Nampoothiri S, Danda S, Datar C, Kapoor S, Bhatwadekar S, Sheth F.

BMC Med Genet. 2019 Feb 14;20(1):31. doi: 10.1186/s12881-019-0759-1.

5.

Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII.

Kantaputra PN, Smith LJ, Casal ML, Kuptanon C, Chang YC, Nampoothiri S, Paiyarom A, Veerasakulwong T, Trachoo O, Ketudat Cairns JR, Chinadet W, Tanpaiboon P.

Am J Med Genet A. 2019 Mar;179(3):486-493. doi: 10.1002/ajmg.a.61034. Epub 2019 Jan 17.

PMID:
30653816
6.

Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients.

Sheth J, Mistri M, Bhavsar R, Pancholi D, Kamate M, Gupta N, Kabra M, Mehta S, Nampoothiri S, Thakker A, Jain V, Shah R, Sheth F.

BMC Neurol. 2018 Dec 12;18(1):203. doi: 10.1186/s12883-018-1206-1.

7.

miR-9 Upregulation Integrates Post-ischemic Neuronal Survival and Regeneration In Vitro.

Nampoothiri SS, Rajanikant GK.

Cell Mol Neurobiol. 2019 Mar;39(2):223-240. doi: 10.1007/s10571-018-0642-1. Epub 2018 Dec 11.

PMID:
30539420
8.

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

Howaldt A, Nampoothiri S, Quell LM, Ozden A, Fischer-Zirnsak B, Collet C, de Vernejoul MC, Doneray H, Kayserili H, Kornak U.

Bone. 2019 Mar;120:495-503. doi: 10.1016/j.bone.2018.12.002. Epub 2018 Dec 8.

PMID:
30537558
9.

Extensive Extrapulvinar Calcification in Fabry Disease.

Baishya J, Kesav P, Nampoothiri S, Sreedharan SE, Sylaja PN.

Ann Indian Acad Neurol. 2018 Oct-Dec;21(4):309-310. doi: 10.4103/aian.AIAN_476_17. No abstract available.

10.

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

Stephen J, Maddirevula S, Nampoothiri S, Burke JD, Herzog M, Shukla A, Steindl K, Eskin A, Patil SJ, Joset P, Lee H, Garrett LJ, Yokoyama T, Balanda N, Bodine SP, Tolman NJ, Zerfas PM, Zheng A, Ramantani G, Girisha KM, Rivas C, Suresh PV, Elkahloun A, Alsaif HS, Wakil SM, Mahmoud L, Ali R, Prochazkova M; Undiagnosed Diseases Network members, Kulkarni AB, Ben-Omran T, Colak D, Morris HD, Rauch A, Martinez-Agosto JA, Nelson SF, Alkuraya FS, Gahl WA, Malicdan MCV.

Am J Hum Genet. 2018 Dec 6;103(6):948-967. doi: 10.1016/j.ajhg.2018.11.001.

PMID:
30526868
11.

Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients.

Nampoothiri S, Elcioglu NH, Koca SS, Yesodharan D, Kk C, Krishnan V 5th, Bhat M, Mohandas Nair K, Radhakrishnan N, Kappanayil M, Sheth JJ, Alves S, Coutinho F, Friez MJ, Pauli RM, Unger S, Superti-Furga A, Leroy JG, Cathey SS.

Clin Dysmorphol. 2019 Jan;28(1):7-16. doi: 10.1097/MCD.0000000000000249.

PMID:
30507725
12.

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

Stephen J, Nampoothiri S, Kuppa S, Yesodharan D, Radhakrishnan N, Gahl WA, Malicdan MCV.

Am J Med Genet A. 2018 Dec;176(12):2930-2933. doi: 10.1002/ajmg.a.40658. Epub 2018 Dec 4. No abstract available.

PMID:
30513139
13.

Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.

Vuillaume ML, Moizard MP, Rossignol S, Cottereau E, Vonwill S, Alessandri JL, Busa T, Colin E, Gérard M, Giuliano F, Lambert L, Lefevre M, Kotecha U, Nampoothiri S, Netchine I, Raynaud M, Brioude F, Toutain A.

Hum Mutat. 2018 Dec;39(12):2110-2112. doi: 10.1002/humu.23612. Epub 2018 Sep 17. No abstract available.

PMID:
30447178
14.

Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.

Somashekar PH, Girisha KM, Nampoothiri S, Gowrishankar K, Devi RR, Gupta N, Narayanan DL, Kaur A, Bajaj S, Jagadeesh S, Lewis LES, Shailaja S, Shukla A.

Clin Genet. 2019 Mar;95(3):398-402. doi: 10.1111/cge.13468. Epub 2018 Nov 27.

PMID:
30394532
15.

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

Hebbar M, Shukla A, Nampoothiri S, Bielas S, Girisha KM.

J Hum Genet. 2019 Jan;64(1):17-21. doi: 10.1038/s10038-018-0523-y. Epub 2018 Oct 18.

PMID:
30337681
16.

An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease.

Kazi ZB, Desai AK, Troxler RB, Kronn D, Packman S, Sabbadini M, Rizzo WB, Scherer K, Abdul-Rahman O, Tanpaiboon P, Nampoothiri S, Gupta N, Feigenbaum A, Niyazov DM, Sherry L, Segel R, McVie-Wylie A, Sung C, Joseph AM, Richards S, Kishnani PS.

Genet Med. 2018 Sep 14. doi: 10.1038/s41436-018-0270-7. [Epub ahead of print]

17.

Correction: Arterial tortuosity syndrome: 40 new families and literature review.

Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Baena N, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins Ii TR, Taylor A, Davis EC, Zarate Y, Callewaert B.

Genet Med. 2018 Sep 10. doi: 10.1038/s41436-018-0035-3. [Epub ahead of print]

PMID:
30201961
18.

Coinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the body.

Harms FL, Nampoothiri S, Kortüm F, Thomas J, Panicker VV, Alawi M, Altmüller J, Yesodharan D, Kutsche K.

Br J Dermatol. 2018 Nov;179(5):1192-1194. doi: 10.1111/bjd.16912. Epub 2018 Aug 12. No abstract available.

PMID:
29947416
19.

Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.

Van Damme T, Pang X, Guillemyn B, Gulberti S, Syx D, De Rycke R, Kaye O, de Die-Smulders CEM, Pfundt R, Kariminejad A, Nampoothiri S, Pierquin G, Bulk S, Larson AA, Chatfield KC, Simon M, Legrand A, Gerard M, Symoens S, Fournel-Gigleux S, Malfait F.

Hum Mol Genet. 2018 Oct 15;27(20):3475-3487. doi: 10.1093/hmg/ddy234.

PMID:
29931299
20.

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

Stephen J, Nampoothiri S, Vinayan KP, Yesodharan D, Remesh P, Gahl WA, Malicdan MCV.

BMC Med Genet. 2018 May 16;19(1):80. doi: 10.1186/s12881-018-0597-6.

21.

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

Salian S, Nampoothiri S, Shukla A, Girisha KM.

Congenit Anom (Kyoto). 2019 Jan;59(1):26-27. doi: 10.1111/cga.12285. Epub 2018 May 16. No abstract available.

PMID:
29704261
22.

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

Stephen J, Nampoothiri S, Banerjee A, Tolman NJ, Penninger JM, Elling U, Agu CA, Burke JD, Devadathan K, Kannan R, Huang Y, Steinbach PJ, Martinis SA, Gahl WA, Malicdan MCV.

Hum Genet. 2018 Apr;137(4):293-303. doi: 10.1007/s00439-018-1882-3. Epub 2018 Apr 24.

PMID:
29691655
23.

Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.

Vuillaume ML, Moizard MP, Rossignol S, Cottereau E, Vonwill S, Alessandri JL, Busa T, Colin E, Gérard M, Giuliano F, Lambert L, Lefevre M, Kotecha U, Nampoothiri S, Netchine I, Raynaud M, Brioude F, Toutain A.

Hum Mutat. 2018 Jun;39(6):790-805. doi: 10.1002/humu.23428. Epub 2018 Apr 24. Erratum in: Hum Mutat. 2018 Dec;39(12):2110-2112.

PMID:
29637653
24.

Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB.

Salian S, Shukla A, Shah H, Bhat SN, Bhat VR, Nampoothiri S, Shenoy R, Phadke SR, Hariharan SV, Girisha KM.

Clin Genet. 2018 Jul;94(1):159-164. doi: 10.1111/cge.13252. Epub 2018 Apr 14.

PMID:
29566257
25.

Folic Acid Exerts Post-Ischemic Neuroprotection In Vitro Through HIF-1α Stabilization.

Davis CK, Nampoothiri SS, Rajanikant GK.

Mol Neurobiol. 2018 Nov;55(11):8328-8345. doi: 10.1007/s12035-018-0982-3. Epub 2018 Mar 14.

PMID:
29542054
26.

A Novel Five-Node Feed-Forward Loop Unravels miRNA-Gene-TF Regulatory Relationships in Ischemic Stroke.

Nampoothiri SS, Fayaz SM, Rajanikant GK.

Mol Neurobiol. 2018 Nov;55(11):8251-8262. doi: 10.1007/s12035-018-0963-6. Epub 2018 Mar 9.

PMID:
29524052
27.

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

Anilkumar A, Vasudevan DM, Kappanayil M, Sundaram KR, Krishna Kumar R, Nampoothiri S.

Congenit Heart Dis. 2018 May;13(3):483-487. doi: 10.1111/chd.12600. Epub 2018 Mar 5.

PMID:
29508558
28.

Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum.

Yesodharan D, Büschenfelde UMZ, Kutsche K, Mohandas Nair K, Nampoothiri S.

Indian J Pediatr. 2018 Dec;85(12):1067-1072. doi: 10.1007/s12098-018-2632-1. Epub 2018 Jan 31.

PMID:
29383603
29.

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

Kievit A, Tessadori F, Douben H, Jordens I, Maurice M, Hoogeboom J, Hennekam R, Nampoothiri S, Kayserili H, Castori M, Whiteford M, Motter C, Melver C, Cunningham M, Hing A, Kokitsu-Nakata NM, Vendramini-Pittoli S, Richieri-Costa A, Baas AF, Breugem CC, Duran K, Massink M, Derksen PWB, van IJcken WFJ, van Unen L, Santos-Simarro F, Lapunzina P, Gil-da Silva Lopes VL, Lustosa-Mendes E, Krall M, Slavotinek A, Martinez-Glez V, Bakkers J, van Gassen KLI, de Klein A, van den Boogaard MH, van Haaften G.

Eur J Hum Genet. 2018 Feb;26(2):210-219. doi: 10.1038/s41431-017-0010-5. Epub 2018 Jan 18.

30.

Arterial tortuosity syndrome: 40 new families and literature review.

Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Diéz NB, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins TR, Taylor A, Davis EC, Zarate Y, Callewaert B.

Genet Med. 2018 Oct;20(10):1236-1245. doi: 10.1038/gim.2017.253. Epub 2018 Jan 11. Erratum in: Genet Med. 2018 Sep 10;:.

PMID:
29323665
31.

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

Harms FL, Nampoothiri S, Anazi S, Yesodharan D, Alawi M, Kutsche K, Alkuraya FS.

Am J Med Genet A. 2018 Feb;176(2):477-482. doi: 10.1002/ajmg.a.38568. Epub 2017 Dec 22.

PMID:
29271567
32.

Osteoglophonic Dysplasia: Phenotypic and Radiological Clues.

Kuthiroly S, Yesodharan D, Ghosh A, White KE, Nampoothiri S.

J Pediatr Genet. 2017 Dec;6(4):247-251. doi: 10.1055/s-0037-1602816. Epub 2017 May 5.

33.

Plexiform Neurofibroma of Clitoris.

Yesodharan D, Sudarsanan B, Jojo A, Abraham M, Bhavani N, Mathews H, Nampoothiri S.

J Pediatr Genet. 2017 Dec;6(4):244-246. doi: 10.1055/s-0037-1602789. Epub 2017 May 2.

34.

Prenatal diagnosis of nail patella syndrome: A case report.

Padmanabhan LD, Yesodharan D, Nampoothiri S.

Indian J Radiol Imaging. 2017 Jul-Sep;27(3):329-331. doi: 10.4103/ijri.IJRI_438_16.

35.

Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in PGAP3.

Nampoothiri S, Hebbar M, Roy AG, Kochumon SP, Bielas S, Shukla A, Girisha KM.

J Pediatr Genet. 2017 Sep;6(3):191-193. doi: 10.1055/s-0037-1599148. Epub 2017 Mar 7.

36.

Wolman Disease: A Mimic of Infant Leukemia.

Gopakumar KG, Thankamony P, Nampoothiri S, Bali D, Raj J, A Vasudevan J, K Nair R.

J Pediatr Hematol Oncol. 2017 Nov;39(8):e489-e492. doi: 10.1097/MPH.0000000000000861.

PMID:
28538091
37.

Subtelomeric rearrangements in Indian children with idiopathic intellectual disability/developmental delay: Frequency estimation & clinical correlation using fluorescence in situ hybridization (FISH).

Mohan S, Koshy T, Vekatachalam P, Nampoothiri S, Yesodharan D, Gowrishankar K, Kumar J, Ravichandran L, Joseph S, Chandrasekaran A, Paul SF.

Indian J Med Res. 2016 Aug;144(2):206-214. doi: 10.4103/0971-5916.195031.

38.

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

Priya S, Nampoothiri S, Sen P, Sripriya S.

Indian J Ophthalmol. 2016 Sep;64(9):620-627. doi: 10.4103/0301-4738.194328. Review.

39.

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

Nampoothiri S, Fernández-Rebollo E, Yesodharan D, Gardella TJ, Rush ET, Langman CB, Jüppner H.

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

40.

Rodent Gymnastics: Neurobehavioral Assays in Ischemic Stroke.

Nampoothiri SS, Potluri T, Subramanian H, Krishnamurthy RG.

Mol Neurobiol. 2017 Nov;54(9):6750-6761. doi: 10.1007/s12035-016-0195-6. Epub 2016 Oct 17. Review.

PMID:
27752994
41.

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.

Yokote K, Chanprasert S, Lee L, Eirich K, Takemoto M, Watanabe A, Koizumi N, Lessel D, Mori T, Hisama FM, Ladd PD, Angle B, Baris H, Cefle K, Palanduz S, Ozturk S, Chateau A, Deguchi K, Easwar TK, Federico A, Fox A, Grebe TA, Hay B, Nampoothiri S, Seiter K, Streeten E, Piña-Aguilar RE, Poke G, Poot M, Posmyk R, Martin GM, Kubisch C, Schindler D, Oshima J.

Hum Mutat. 2017 Jan;38(1):7-15. doi: 10.1002/humu.23128. Epub 2016 Oct 7. Review.

42.

Stability of patterns on thin curved surfaces.

Nampoothiri S.

Phys Rev E. 2016 Aug;94(2-1):022403. doi: 10.1103/PhysRevE.94.022403. Epub 2016 Aug 4.

PMID:
27627331
43.

Role of KCa3.1 Channels in CNS Diseases: A Concise Review.

Sugunan S, Nampoothiri SS, Garg T, Krishnamurthy RG.

CNS Neurol Disord Drug Targets. 2016;15(10):1299-1305. Review.

PMID:
27549144
44.

Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.

Uttarilli A, Ranganath P, Matta D, Md Nurul Jain J, Prasad K, Babu AS, Girisha KM, Verma IC, Phadke SR, Mandal K, Puri RD, Aggarwal S, Danda S, Sankar VH, Kapoor S, Bhat M, Gowrishankar K, Hasan AQ, Nair M, Nampoothiri S, Dalal A.

Clin Genet. 2016 Dec;90(6):496-508. doi: 10.1111/cge.12795. Epub 2016 May 26.

PMID:
27146977
46.

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.

Kouz K, Lissewski C, Spranger S, Mitter D, Riess A, Lopez-Gonzalez V, Lüttgen S, Aydin H, von Deimling F, Evers C, Hahn A, Hempel M, Issa U, Kahlert AK, Lieb A, Villavicencio-Lorini P, Ballesta-Martinez MJ, Nampoothiri S, Ovens-Raeder A, Puchmajerová A, Satanovskij R, Seidel H, Unkelbach S, Zabel B, Kutsche K, Zenker M.

Genet Med. 2016 Dec;18(12):1226-1234. doi: 10.1038/gim.2016.32. Epub 2016 Apr 21.

PMID:
27101134
47.

Prenatal detection of congenital high airway obstruction syndrome with encephalocele.

Padmanabhan LD, Nampoothiri S.

Indian J Radiol Imaging. 2016 Jan-Mar;26(1):70-2. doi: 10.4103/0971-3026.178336.

48.

Prenatal diagnosis of amniotic band syndrome.

Padmanabhan LD, Hamza ZV, Thampi MV, Nampoothiri S.

Indian J Radiol Imaging. 2016 Jan-Mar;26(1):63-6. doi: 10.4103/0971-3026.178329.

49.

Reciprocal Microduplication of the Williams-Beuren Syndrome Chromosome Region in a 9-Year-Old Omani Boy.

Mohan S, Nampoothiri S, Yesodharan D, Venkatesan V, Koshy T, Paul SF, Perumal V.

Lab Med. 2016 May;47(2):171-5. doi: 10.1093/labmed/lmw005.

PMID:
27069036
50.

Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.

Putoux A, Alqahtani A, Pinson L, Paulussen AD, Michel J, Besson A, Mazoyer S, Borg I, Nampoothiri S, Vasiljevic A, Uwineza A, Boggio D, Champion F, de Die-Smulders CE, Gardeitchik T, van Putten WK, Perez MJ, Musizzano Y, Razavi F, Drunat S, Verloes A, Hennekam R, Guibaud L, Alix E, Sanlaville D, Lesca G, Edery P.

Clin Genet. 2016 Dec;90(6):550-555. doi: 10.1111/cge.12781. Epub 2016 Jun 2.

PMID:
27040866

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