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Items: 1 to 20 of 38


Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective.

Volk A, Conboy E, Wical B, Patterson M, Kirmani S.

Mol Syndromol. 2015 Feb;6(1):23-31. doi: 10.1159/000371598. Epub 2015 Feb 3. Review.


Pulmonary fibrosis in dyskeratosis congenita: report of 2 cases.

Dvorak LA, Vassallo R, Kirmani S, Johnson G, Hartman TE, Tazelaar HD, Leslie KO, Colby TV, Cockcroft DW, Churg AM, Yi ES.

Hum Pathol. 2015 Jan;46(1):147-52. doi: 10.1016/j.humpath.2014.10.003. Epub 2014 Oct 14.


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

Dhamija R, Kirmani S.

Semin Pediatr Neurol. 2014 Jun;21(2):67-71. doi: 10.1016/j.spen.2014.04.003. Epub 2014 Apr 3. Review.


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

Brodsky MC, Turan KE, Khanna CL, Patton A, Kirmani S.

J AAPOS. 2014 Aug;18(4):393-5. doi: 10.1016/j.jaapos.2014.02.010. Epub 2014 Jul 3. Erratum in: J AAPOS. 2014 Oct;18(5):518.


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.

Am J Med Genet A. 2014 Sep;164A(9):2356-9. doi: 10.1002/ajmg.a.36621. Epub 2014 May 28.


Diminished bone strength is observed in adult women and men who sustained a mild trauma distal forearm fracture during childhood.

Farr JN, Khosla S, Achenbach SJ, Atkinson EJ, Kirmani S, McCready LK, Melton LJ 3rd, Amin S.

J Bone Miner Res. 2014 Oct;29(10):2193-202. doi: 10.1002/jbmr.2257.


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.

Eur J Med Genet. 2014 Mar;57(4):181-4. doi: 10.1016/j.ejmg.2014.02.009. Epub 2014 Feb 27.


Fragile X syndrome due to a missense mutation.

Myrick LK, Nakamoto-Kinoshita M, Lindor NM, Kirmani S, Cheng X, Warren ST.

Eur J Hum Genet. 2014 Oct;22(10):1185-9. doi: 10.1038/ejhg.2013.311. Epub 2014 Jan 22.


Similarity of geleophysic dysplasia and Weill-Marchesani syndrome.

Kochhar A, Kirmani S, Cetta F, Younge B, Hyland JC, Michels V.

Am J Med Genet A. 2013 Dec;161A(12):3130-2. doi: 10.1002/ajmg.a.36147. Epub 2013 Sep 24.


Effects of age on bone mRNA levels of sclerostin and other genes relevant to bone metabolism in humans.

Roforth MM, Fujita K, McGregor UI, Kirmani S, McCready LK, Peterson JM, Drake MT, Monroe DG, Khosla S.

Bone. 2014 Feb;59:1-6. doi: 10.1016/j.bone.2013.10.019. Epub 2013 Oct 29.


Effects of estrogen on bone mRNA levels of sclerostin and other genes relevant to bone metabolism in postmenopausal women.

Fujita K, Roforth MM, Demaray S, McGregor U, Kirmani S, McCready LK, Peterson JM, Drake MT, Monroe DG, Khosla S.

J Clin Endocrinol Metab. 2014 Jan;99(1):E81-8. doi: 10.1210/jc.2013-3249. Epub 2013 Dec 20.


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.

Pediatr Neurol. 2013 Dec;49(6):486-8. doi: 10.1016/j.pediatrneurol.2013.07.004. Epub 2013 Aug 26.


Bone strength and structural deficits in children and adolescents with a distal forearm fracture resulting from mild trauma.

Farr JN, Amin S, Melton LJ 3rd, Kirmani S, McCready LK, Atkinson EJ, Müller R, Khosla S.

J Bone Miner Res. 2014 Mar;29(3):590-9. doi: 10.1002/jbmr.2071.


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

Dhamija R, Waltman L, Hoppman N, Kirmani S.

Pediatr Neurol. 2013 Jul;49(1):e2-3. doi: 10.1016/j.pediatrneurol.2013.04.019. No abstract available.


Response to Cobben et al. "Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: buccal smear analysis should remain the diagnostic procedure of first choice".

Hodge JC, Kirmani S.

Am J Med Genet A. 2013 Jun;161A(6):1520-1. doi: 10.1002/ajmg.a.35865. Epub 2013 Apr 23. No abstract available.


A distal forearm fracture in childhood is associated with an increased risk for future fragility fractures in adult men, but not women.

Amin S, Melton LJ 3rd, Achenbach SJ, Atkinson EJ, Dekutoski MB, Kirmani S, Fischer PR, Khosla S.

J Bone Miner Res. 2013 Aug;28(8):1751-9. doi: 10.1002/jbmr.1914.


Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.

Lionel AC, Vaags AK, Sato D, Gazzellone MJ, Mitchell EB, Chen HY, Costain G, Walker S, Egger G, Thiruvahindrapuram B, Merico D, Prasad A, Anagnostou E, Fombonne E, Zwaigenbaum L, Roberts W, Szatmari P, Fernandez BA, Georgieva L, Brzustowicz LM, Roetzer K, Kaschnitz W, Vincent JB, Windpassinger C, Marshall CR, Trifiletti RR, Kirmani S, Kirov G, Petek E, Hodge JC, Bassett AS, Scherer SW.

Hum Mol Genet. 2013 May 15;22(10):2055-66. doi: 10.1093/hmg/ddt056. Epub 2013 Feb 7.


"Ocular moyamoya" syndrome in a patient with features of microcephalic osteodysplastic primordial dwarfism type II.

Bang GM, Kirmani S, Patton A, Pulido JS, Brodsky MC.

J AAPOS. 2013 Feb;17(1):100-2. doi: 10.1016/j.jaapos.2012.09.007. Epub 2013 Jan 18.


Pseudohypoaldosteronism presenting with thrombocytosis and bilateral pneumothoraces in an infant.

Javed A, Leonard JM, Cramer C, Kumar S, Kirmani S, Brands CK.

J Pediatr Endocrinol Metab. 2013;26(3-4):393-5. doi: 10.1515/jpem-2012-0334.


Adult-onset manifestation of idiopathic T-cell lymphopenia due to a heterozygous RAG1 mutation.

Abraham RS, Recher M, Giliani S, Walter JE, Lee YN, Frugoni F, Maddox DE, Kirmani S, Notarangelo LD.

J Allergy Clin Immunol. 2013 May;131(5):1421-3. doi: 10.1016/j.jaci.2012.09.016. Epub 2012 Nov 2. No abstract available.

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