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Items: 1 to 50 of 93

1.

Establishment of a thalassaemia major quality improvement collaborative in Pakistan.

Hoodbhoy Z, Ehsan L, Alvi N, Sajjad F, Asghar A, Nadeem O, Qidwai A, Hussain S, Hasan E, Altaf S, Kirmani S, Hasan BS.

Arch Dis Child. 2019 Feb 8. pii: archdischild-2018-315743. doi: 10.1136/archdischild-2018-315743. [Epub ahead of print]

PMID:
30737261
2.

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.

Ann Pediatr Endocrinol Metab. 2018 Sep;23(3):158-161. doi: 10.6065/apem.2018.23.3.158. Epub 2018 Sep 28.

3.

Clinical utility of endocrine markers predicting myocardial siderosis in transfusion dependent thalassemia major.

Ehsan L, Rashid M, Alvi N, Awais K, Nadeem O, Asghar A, Sajjad F, Fatima M, Qidwai A, Hussain S, Hasan E, Brown N, Altaf S, Hasan B, Kirmani S.

Pediatr Blood Cancer. 2018 Oct;65(10):e27285. doi: 10.1002/pbc.27285. Epub 2018 Jun 12.

PMID:
29893484
4.

PDK4 Deficiency Induces Intrinsic Apoptosis in Response to Starvation in Fibroblasts from Doberman Pinschers with Dilated Cardiomyopathy.

Taggart K, Estrada A, Thompson P, Lourenco F, Kirmani S, Suzuki-Hatano S, Pacak CA.

Biores Open Access. 2017 Dec 1;6(1):182-191. doi: 10.1089/biores.2017.0023. eCollection 2017.

5.

Clinical and laboratory profile of children with Cystic Fibrosis: Experience of a tertiary care center in Pakistan.

Aziz DA, Billoo AG, Qureshi A, Khalid M, Kirmani S.

Pak J Med Sci. 2017 May-Jun;33(3):554-559. doi: 10.12669/pjms.333.12188.

6.

Negative dielectrophoresis spectroscopy for rare analyte quantification in biological samples.

Kirmani SA, Gudagunti FD, Velmanickam L, Nawarathna D, Lima IT Jr.

J Biomed Opt. 2017 Mar 1;22(3):37006. doi: 10.1117/1.JBO.22.3.037006.

PMID:
28358942
7.

De novo 11q deletion including SHANK2 in a patient with global developmental delay.

Marcou CA, Studinski Jones AL, Murphree MI, Kirmani S, Hoppman NL.

Am J Med Genet A. 2017 Mar;173(3):801-805. doi: 10.1002/ajmg.a.38075. No abstract available.

PMID:
28211979
8.

Virtual fracture clinic delivers British Orthopaedic Association compliance.

Holgate J, Kirmani S, Anand B.

Ann R Coll Surg Engl. 2017 Jan;99(1):51-54. doi: 10.1308/rcsann.2016.0255. Epub 2016 Sep 22.

9.

Spontaneous coronary artery dissection and its association with heritable connective tissue disorders.

Henkin S, Negrotto SM, Tweet MS, Kirmani S, Deyle DR, Gulati R, Olson TM, Hayes SN.

Heart. 2016 Jun 1;102(11):876-81. doi: 10.1136/heartjnl-2015-308645. Epub 2016 Feb 10.

PMID:
26864667
10.

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.

11.

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.

PMID:
25455995
12.

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.

PMID:
25149925
13.

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.

PMID:
24998021
14.

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.

PMID:
24888332
15.

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.

16.

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.

PMID:
24583203
17.

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.

18.

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.

PMID:
24214363
19.

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.

20.

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.

21.

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.

PMID:
23988467
22.

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.

23.

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.

PMID:
23827435
24.

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.

PMID:
23613434
25.

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.

Mol Psychiatry. 2014 Mar;19(3):368-79. doi: 10.1038/mp.2013.42. Epub 2013 Apr 16.

26.

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.

27.

Estimation in a competing risks proportional hazards model under length-biased sampling with censoring.

Dauxois JY, Guilloux A, Kirmani SN.

Lifetime Data Anal. 2014 Apr;20(2):276-302. doi: 10.1007/s10985-013-9248-6. Epub 2013 Mar 3.

PMID:
23456312
28.

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.

PMID:
23393157
29.

"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.

PMID:
23337351
30.

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.

PMID:
23327809
31.

Giant intradural extramedullary spinal hydatid cyst--a rare presentation.

Rashid M, Kirmani S, Rashid M.

Clin Imaging. 2012 Nov-Dec;36(6):881-3. doi: 10.1016/j.clinimag.2011.12.011. Epub 2012 Jun 8.

PMID:
23154030
32.

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.

33.

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Morimoto M, Yu Z, Stenzel P, Clewing JM, Najafian B, Mayfield C, Hendson G, Weinkauf JG, Gormley AK, Parham DM, Ponniah U, André JL, Asakura Y, Basiratnia M, Bogdanović R, Bokenkamp A, Bonneau D, Buck A, Charrow J, Cochat P, Cordeiro I, Deschenes G, Fenkçi MS, Frange P, Fründ S, Fryssira H, Guillen-Navarro E, Keller K, Kirmani S, Kobelka C, Lamfers P, Levtchenko E, Lewis DB, Massella L, McLeod DR, Milford DV, Nobili F, Saraiva JM, Semerci CN, Shoemaker L, Stajić N, Stein A, Taha D, Wand D, Zonana J, Lücke T, Boerkoel CF.

Orphanet J Rare Dis. 2012 Sep 22;7:70. doi: 10.1186/1750-1172-7-70.

34.

Dental abnormalities in Schimke immuno-osseous dysplasia.

Morimoto M, Kérourédan O, Gendronneau M, Shuen C, Baradaran-Heravi A, Asakura Y, Basiratnia M, Bogdanovic R, Bonneau D, Buck A, Charrow J, Cochat P, Dehaai KA, Fenkçi MS, Frange P, Fründ S, Fryssira H, Keller K, Kirmani S, Kobelka C, Kohler K, Lewis DB, Massella L, McLeod DR, Milford DV, Nobili F, Olney AH, Semerci CN, Stajic N, Stein A, Taque S, Zonana J, Lücke T, Hendson G, Bonnaure-Mallet M, Boerkoel CF.

J Dent Res. 2012 Jul;91(7 Suppl):29S-37S.

35.

Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome.

Raca G, Baas BS, Kirmani S, Laffin JJ, Jackson CA, Strand EA, Jakielski KJ, Shriberg LD.

Eur J Hum Genet. 2013 Apr;21(4):455-9. doi: 10.1038/ejhg.2012.165. Epub 2012 Aug 22.

36.

Multiple jejunal cancers resulting from combination of germline APC and MLH1 mutations.

Lindor NM, Smyrk TC, Buehler S, Gunawardena SR, Thomas BC, Limburg P, Kirmani S, Thibodeau SN.

Fam Cancer. 2012 Dec;11(4):667-9. doi: 10.1007/s10689-012-9561-3.

PMID:
22886683
37.

Chronic tibial nonunion in a Rothmund-Thomson syndrome patient.

Carlson AM, Thomas KB, Kirmani S, Lindor NM.

Am J Med Genet A. 2012 Sep;158A(9):2250-3. doi: 10.1002/ajmg.a.35475. Epub 2012 Jul 20.

PMID:
22821900
38.

A novel sclerosing skeletal dysplasia with mixed sclerosing bone dysplasia, characteristic syndromic features, and clinical and radiographic evidence of male-male transmission.

Murphy-Ryan M, Kirmani S, Thompson DM, Binkovitz LA, Thomas KB, Babovic-Vuksanovic D.

Am J Med Genet A. 2012 Sep;158A(9):2292-6. doi: 10.1002/ajmg.a.35497. Epub 2012 Jul 20.

PMID:
22821701
39.

Molecular genetic testing in endocrinology - a practical guide.

Kirmani S.

Endocr Pract. 2012 Jan-Feb;18(1):85-9. Review.

PMID:
22336444
40.

Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: a skin biopsy should remain the diagnostic gold standard.

Hodge JC, Hulshizer RL, Seger P, St Antoine A, Bair J, Kirmani S.

Am J Med Genet A. 2012 Mar;158A(3):669-73. doi: 10.1002/ajmg.a.35209. Epub 2012 Feb 7.

PMID:
22315202
41.

Diagnostic difficulties in differentiating sarcoidosis from tuberculosis.

Badar F, Azfar SF, Ahmad I, Yasmeen S, Kirmani S.

Oman Med J. 2011 May;26(3):210-1. doi: 10.5001/omj.2011.53. No abstract available.

42.

Diabetic women with Fever and right flank pain.

Azfar SF, Badar F, Akhtar N, Kirmani S.

Oman Med J. 2011 Mar;26(2):141-2. doi: 10.5001/omj.2011.35. No abstract available.

43.

Isolated intramedullary spinal cysticercosis in a 10-year-old female showing dramatic response with albendazole.

Azfar SF, Kirmani S, Badar F, Ahmad I.

J Pediatr Neurosci. 2011 Jan;6(1):52-4. doi: 10.4103/1817-1745.84409.

44.

Balo's concentric sclerosis involving bilateral thalami.

Badar F, Azfar SF, Ahmad I, Kirmani S, Rashid M.

Neurol India. 2011 Jul-Aug;59(4):597-600. doi: 10.4103/0028-3886.84345. Review.

45.

External jugular vein aneurysm: a rare cause of neck swelling.

Kirmani S, Rashid M, Ali I, Badar F.

J Ultrasound Med. 2011 Aug;30(8):1157-8. No abstract available.

PMID:
21795494
46.

Sclerostin levels during growth in children.

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

Osteoporos Int. 2012 Mar;23(3):1123-30. doi: 10.1007/s00198-011-1669-z. Epub 2011 May 27.

47.

Relationship of testosterone and osteocalcin levels during growth.

Kirmani S, Atkinson EJ, Melton LJ 3rd, Riggs BL, Amin S, Khosla S.

J Bone Miner Res. 2011 Sep;26(9):2212-6. doi: 10.1002/jbmr.421.

48.

Spontaneous spinal epidural hematoma during pregnancy: a rare obstetric emergency.

Badar F, Kirmani S, Rashid M, Azfar SF, Yasmeen S, Ullah E.

Emerg Radiol. 2011 Oct;18(5):433-6. doi: 10.1007/s10140-011-0952-9. Epub 2011 Apr 12. No abstract available.

PMID:
21484460
49.

Co-morbidity of Sanfilippo syndrome type C and D-2-hydroxyglutaric aciduria.

Ali Pervaiz M, Patterson MC, Struys EA, Salomons GS, Jakobs C, Oglesbee D, Kirmani S.

J Neurol. 2011 Aug;258(8):1564-5. doi: 10.1007/s00415-011-5977-1. Epub 2011 Mar 8. No abstract available.

PMID:
21384162
50.

Transient QT interval prolongation in an infant with Simpson-Golabi-Behmel syndrome.

Gertsch E, Kirmani S, Ackerman MJ, Babovic-Vuksanovic D.

Am J Med Genet A. 2010 Sep;152A(9):2379-82. doi: 10.1002/ajmg.a.33561. No abstract available.

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