Lingappa L - Search Results

1

GLRB is the third major gene of effect in hyperekplexia.

Chung SK, Bode A, Cushion TD, Thomas RH, Hunt C, Wood SE, Pickrell WO, Drew CJ, Yamashita S, Shiang R, Leiz S, Longardt AC, Raile V, Weschke B, Puri RD, Verma IC, Harvey RJ, Ratnasinghe DD, Parker M, Rittey C, Masri A, Lingappa L, Howell OW, Vanbellinghen JF, Mullins JG, Lynch JW, Rees MI. Chung SK, et al. Among authors: lingappa l. Hum Mol Genet. 2013 Mar 1;22(5):927-40. doi: 10.1093/hmg/dds498. Epub 2012 Nov 25. Hum Mol Genet. 2013. PMID: 23184146

2

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics; Chance P, Parisi MA, Glass IA, Shendure J, Doherty D. Bachmann-Gagescu R, et al. Among authors: lingappa l. J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19. J Med Genet. 2015. PMID: 26092869 Free PMC article.

3

A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy.

Geetha TS, Lingappa L, Jain AR, Govindan H, Mandloi N, Murugan S, Gupta R, Vedam R. Geetha TS, et al. Among authors: lingappa l. Mol Genet Genomic Med. 2018 Mar;6(2):282-287. doi: 10.1002/mgg3.352. Epub 2017 Dec 22. Mol Genet Genomic Med. 2018. PMID: 29271071 Free PMC article.

4

Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.

Radha Rama Devi A, Naushad SM, Lingappa L. Radha Rama Devi A, et al. Among authors: lingappa l. Pediatr Neurol. 2020 May;106:43-49. doi: 10.1016/j.pediatrneurol.2020.01.012. Epub 2020 Feb 4. Pediatr Neurol. 2020. PMID: 32139166

5

Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India.

Radha Rama Devi A, Ramesh VA, Nagarajaram HA, Satish SP, Jayanthi U, Lingappa L. Radha Rama Devi A, et al. Among authors: lingappa l. Brain Dev. 2016 Jan;38(1):54-60. doi: 10.1016/j.braindev.2015.05.013. Epub 2015 Jun 10. Brain Dev. 2016. PMID: 26071121

6

Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability.

Radha Rama Devi A, Lingappa L. Radha Rama Devi A, et al. Among authors: lingappa l. Eur J Med Genet. 2018 Feb;61(2):100-103. doi: 10.1016/j.ejmg.2017.07.013. Epub 2017 Aug 1. Eur J Med Genet. 2018. PMID: 28778788

7

Immunodeficiency, Motor Delay, and Hypouricemia Caused by a Novel Mutation of Purine Nucleoside Phosphorylase Gene in an Indian Infant.

Shah N, Lingappa L, Konanki R, Rani S, Vedam R, Murugan S. Shah N, et al. Among authors: lingappa l. Ann Indian Acad Neurol. 2019 Apr-Jun;22(2):231-233. doi: 10.4103/aian.AIAN_430_17. Ann Indian Acad Neurol. 2019. PMID: 31007444 Free PMC article.

8

Identification of Two Novel Mutations in Aminomethyltransferase Gene in Cases of Glycine Encephalopathy.

Radha Rama Devi A, Lingappa L, Naushad SM. Radha Rama Devi A, et al. Among authors: lingappa l. J Pediatr Genet. 2018 Sep;7(3):97-102. doi: 10.1055/s-0038-1667036. Epub 2018 Jul 6. J Pediatr Genet. 2018. PMID: 30105116 Free PMC article.

9

Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature.

Lingappa L, Shah N, Motepalli AS, Shaik F. Lingappa L, et al. Ann Indian Acad Neurol. 2016 Jul-Sep;19(3):395-8. doi: 10.4103/0972-2327.168635. Ann Indian Acad Neurol. 2016. PMID: 27570397 Free PMC article.

10

A rare case of fatty acyl-CoA reductase 1 deficiency in an Indian infant manifesting rhizomelic chondrodystrophy phenotype.

Radha Rama Devi A, Naushad SM, Jain R, Lingappa L. Radha Rama Devi A, et al. Among authors: lingappa l. Clin Genet. 2021 May;99(5):744-745. doi: 10.1111/cge.13934. Epub 2021 Feb 14. Clin Genet. 2021. PMID: 33586168 No abstract available.

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