Bhowmik AD[au] - Search Results

Year	Number of Results
2006	1
2009	1
2011	2
2012	2
2015	3
2016	4
2017	1
2018	2
2019	1
2023	0

1

Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders.

Phadke SR, Kar A, Bhowmik AD, Dalal A. Phadke SR, et al. Among authors: bhowmik ad. Am J Med Genet A. 2016 Jun;170(6):1622-5. doi: 10.1002/ajmg.a.37643. Epub 2016 Apr 4. Am J Med Genet A. 2016. PMID: 27041388

2

Autopsy findings in EPG5-related Vici syndrome with antenatal onset: Additional report of Focal cortical microdysgenesis in a second trimester fetus.

Aggarwal S, Tandon A, Bhowmik AD, Dalal A. Aggarwal S, et al. Among authors: bhowmik ad. Am J Med Genet A. 2018 Feb;176(2):499-501. doi: 10.1002/ajmg.a.38575. Epub 2017 Dec 11. Am J Med Genet A. 2018. PMID: 29227033 No abstract available.

3

Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family.

Dalal A, Bhowmik AD, Agarwal D, Phadke SR. Dalal A, et al. Among authors: bhowmik ad. Indian J Med Res. 2015 Aug;142(2):220-4. doi: 10.4103/0971-5916.164262. Indian J Med Res. 2015. PMID: 26354221 Free PMC article. No abstract available.

4

Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C.

Hebbar M, Prasada L H, Bhowmik AD, Trujillano D, Shukla A, Chakraborti S, Kandaswamy KK, Rolfs A, Kamath N, Dalal A, Bielas S, Girisha KM. Hebbar M, et al. Among authors: bhowmik ad. Am J Med Genet A. 2016 Sep;170(9):2486-9. doi: 10.1002/ajmg.a.37794. Epub 2016 Jun 8. Am J Med Genet A. 2016. PMID: 27271431 Free PMC article. No abstract available.

5

Role of functional dopaminergic gene polymorphisms in the etiology of idiopathic intellectual disability.

Bhowmik AD, Chaudhury S, Dutta S, Shaw J, Chatterjee A, Choudhury A, Saha A, Sadhukhan D, Kar T, Sinha S, Mukhopadhyay K. Bhowmik AD, et al. Prog Neuropsychopharmacol Biol Psychiatry. 2011 Aug 15;35(7):1714-22. doi: 10.1016/j.pnpbp.2011.05.005. Epub 2011 May 13. Prog Neuropsychopharmacol Biol Psychiatry. 2011. PMID: 21609749

6

Association of monoamine oxidase A and serotonin transporter gene functional variants with intellectual disability related behavioral problems.

Bhowmik AD, Mahapatra G, Dutta S, Shaw J, Sinha S, Mukhopadhyay K. Bhowmik AD, et al. Psychiatr Genet. 2012 Jun;22(3):152. doi: 10.1097/YPG.0b013e32834c0c21. Psychiatr Genet. 2012. PMID: 21934643 No abstract available.

7

A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.

Aggarwal S, Bhowmik AD, Ramprasad VL, Murugan S, Dalal A. Aggarwal S, et al. Among authors: bhowmik ad. Am J Med Genet A. 2016 Jul;170(7):1868-73. doi: 10.1002/ajmg.a.37654. Epub 2016 Apr 25. Am J Med Genet A. 2016. PMID: 27108999

8

Breakpoint mapping of a novel de novo translocation t(X;20)(q11.1;p13) by positional cloning and long read sequencing.

Dutta UR, Rao SN, Pidugu VK, V S V, Bhattacherjee A, Bhowmik AD, Ramaswamy SK, Singh KG, Dalal A. Dutta UR, et al. Among authors: bhowmik ad. Genomics. 2019 Sep;111(5):1108-1114. doi: 10.1016/j.ygeno.2018.07.005. Epub 2018 Jul 10. Genomics. 2019. PMID: 30006036 Free article.

9

MAOA promoter polymorphism and attention deficit hyperactivity disorder (ADHD) in indian children.

Das M, Bhowmik AD, Sinha S, Chattopadhyay A, Chaudhuri K, Singh M, Mukhopadhyay K. Das M, et al. Among authors: bhowmik ad. Am J Med Genet B Neuropsychiatr Genet. 2006 Sep 5;141B(6):637-42. doi: 10.1002/ajmg.b.30385. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16856146

10

Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient.

Bhowmik AD, Dalal AB, Matta D, Sundaram C, Aggarwal S. Bhowmik AD, et al. Indian J Pediatr. 2016 Apr;83(4):354-5. doi: 10.1007/s12098-015-1822-3. Epub 2015 Jun 25. Indian J Pediatr. 2016. PMID: 26104111 No abstract available.

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