Kirmani S - Search Results

1

Novel de novo SCN2A mutation in a child with migrating focal seizures of infancy.

Dhamija R, Wirrell E, Falcao G, Kirmani S, Wong-Kisiel LC. Dhamija R, et al. Among authors: kirmani s. Pediatr Neurol. 2013 Dec;49(6):486-8. doi: 10.1016/j.pediatrneurol.2013.07.004. Epub 2013 Aug 26. Pediatr Neurol. 2013. PMID: 23988467

2

A 7-year-old girl with hypertrophic cardiomyopathy and progressive scoliosis.

Dhamija R, Kirmani S. Dhamija R, et al. Among authors: kirmani s. Semin Pediatr Neurol. 2014 Jun;21(2):67-71. doi: 10.1016/j.spen.2014.04.003. Epub 2014 Apr 3. Semin Pediatr Neurol. 2014. PMID: 25149925 Review.

3

Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism.

Dhamija R, Kirmani S, Wang X, Ferber MJ, Wieben ED, Lazaridis KN, Babovic-Vuksanovic D. Dhamija R, et al. Among authors: kirmani s. Am J Med Genet A. 2014 Sep;164A(9):2356-9. doi: 10.1002/ajmg.a.36621. Epub 2014 May 28. Am J Med Genet A. 2014. PMID: 24888332

4

Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum.

Dhamija R, Graham JM Jr, Smaoui N, Thorland E, Kirmani S. Dhamija R, et al. Among authors: kirmani s. Eur J Med Genet. 2014 Mar;57(4):181-4. doi: 10.1016/j.ejmg.2014.02.009. Epub 2014 Feb 27. Eur J Med Genet. 2014. PMID: 24583203

5

Septo-optic dysplasia in a patient with an unbalanced 5;12 translocation.

Dhamija R, Waltman L, Hoppman N, Kirmani S. Dhamija R, et al. Among authors: kirmani s. Pediatr Neurol. 2013 Jul;49(1):e2-3. doi: 10.1016/j.pediatrneurol.2013.04.019. Pediatr Neurol. 2013. PMID: 23827435 No abstract available.

6

Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation.

Brodsky MC, Turan KE, Khanna CL, Patton A, Kirmani S. Brodsky MC, et al. Among authors: kirmani s. J AAPOS. 2014 Aug;18(4):393-5. doi: 10.1016/j.jaapos.2014.02.010. Epub 2014 Jul 3. J AAPOS. 2014. PMID: 24998021

7

Compound heterozygosity for a whole gene deletion and p.R124C mutation in CYP21A2 causing nonclassic congenital adrenal hyperplasia.

Nasir H, Ali SI, Haque N, Grebe SK, Kirmani S. Nasir H, et al. Among authors: kirmani s. Ann Pediatr Endocrinol Metab. 2018 Sep;23(3):158-161. doi: 10.6065/apem.2018.23.3.158. Epub 2018 Sep 28. Ann Pediatr Endocrinol Metab. 2018. PMID: 30286573 Free PMC article.

8

Fragile X syndrome due to a missense mutation.

Myrick LK, Nakamoto-Kinoshita M, Lindor NM, Kirmani S, Cheng X, Warren ST. Myrick LK, et al. Among authors: kirmani s. Eur J Hum Genet. 2014 Oct;22(10):1185-9. doi: 10.1038/ejhg.2013.311. Epub 2014 Jan 22. Eur J Hum Genet. 2014. PMID: 24448548 Free PMC article.

9

Pseudohypoaldosteronism presenting with thrombocytosis and bilateral pneumothoraces in an infant.

Javed A, Leonard JM, Cramer C, Kumar S, Kirmani S, Brands CK. Javed A, et al. Among authors: kirmani s. J Pediatr Endocrinol Metab. 2013;26(3-4):393-5. doi: 10.1515/jpem-2012-0334. J Pediatr Endocrinol Metab. 2013. PMID: 23327809

10

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.

Hodge JC, Mitchell E, Pillalamarri V, Toler TL, Bartel F, Kearney HM, Zou YS, Tan WH, Hanscom C, Kirmani S, Hanson RR, Skinner SA, Rogers RC, Everman DB, Boyd E, Tapp C, Mullegama SV, Keelean-Fuller D, Powell CM, Elsea SH, Morton CC, Gusella JF, DuPont B, Chaubey A, Lin AE, Talkowski ME. Hodge JC, et al. Among authors: kirmani s. Mol Psychiatry. 2014 Mar;19(3):368-79. doi: 10.1038/mp.2013.42. Epub 2013 Apr 16. Mol Psychiatry. 2014. PMID: 23587880 Free PMC article.

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