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Last Name
Institution

Mira Bjelotomich Irons, M.D.

TitleAssociate Professor of Pediatrics
InstitutionChildren's Hospital Boston
DepartmentPediatrics
AddressChildrens Hospital
Hunnewell 5 - Genetics
300 Longwood Ave
Boston MA 02115
Phone617/355-2449
Fax617/730-0466

 Bibliographic 
 selected publications
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. Arrington DK, Danehy AR, Peleggi A, Proctor MR, Irons MB, Ullrich NJ. Calvarial defects and skeletal dysplasia in patients with neurofibromatosis Type 1. J Neurosurg Pediatr. 2013 Apr; 11(4):410-6.
    View in: PubMed
  2. Koss M, Scott RM, Irons MB, Smith ER, Ullrich NJ. Moyamoya syndrome associated with neurofibromatosis Type 1: perioperative and long-term outcome after surgical revascularization. J Neurosurg Pediatr. 2013 Apr; 11(4):417-25.
    View in: PubMed
  3. Nowaczyk MJ, Irons MB. Smith-Lemli-Opitz syndrome: Phenotype, natural history, and epidemiology. Am J Med Genet C Semin Med Genet. 2012 Nov 15; 160C(4):250-62.
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  4. Tsai LL, Drubach L, Fahey F, Irons M, Voss S, Ullrich NJ. [18F]-Fluorodeoxyglucose positron emission tomography in children with neurofibromatosis type 1 and plexiform neurofibromas: correlation with malignant transformation. J Neurooncol. 2012 Jul; 108(3):469-75.
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  5. Robin NH, Reid Sutton V, Caldwell J, Jackson J, Irons M, Demmer L. The development and implementation of an in-service exam for medical genetics residency programs. Genet Med. 2012 May; 14(5):552-7.
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  6. Takano K, Tan WH, Irons MB, Jones JR, Schwartz CE. Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype. Clin Genet. 2011 Dec; 80(6):600-1.
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  7. Korf BR, Irons M, Watson MS. Competencies for the physician medical geneticist in the 21st century. Genet Med. 2011 Nov; 13(11):911-2.
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  8. Coulter ME, Miller DT, Harris DJ, Hawley P, Picker J, Roberts AE, Sobeih MM, Irons M. Chromosomal microarray testing influences medical management. Genet Med. 2011 Sep; 13(9):770-6.
    View in: PubMed
  9. Zarowski M, Vendrame M, Irons M, Kothare SV. Prevalence of sleep problems in Smith-Lemli-Opitz syndrome. Am J Med Genet A. 2011 Jul; 155A(7):1558-62.
    View in: PubMed
  10. van Bon BW, Balciuniene J, Fruhman G, Nagamani SC, Broome DL, Cameron E, Martinet D, Roulet E, Jacquemont S, Beckmann JS, Irons M, Potocki L, Lee B, Cheung SW, Patel A, Bellini M, Selicorni A, Ciccone R, Silengo M, Vetro A, Knoers NV, de Leeuw N, Pfundt R, Wolf B, Jira P, Aradhya S, Stankiewicz P, Brunner HG, Zuffardi O, Selleck SB, Lupski JR, de Vries BB. The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet. 2011 Apr; 19(4):400-8.
    View in: PubMed
  11. Ullrich NJ, Zimmerman M, Smith E, Irons M, Marcus K, Kieran MW. Association of rapidly progressive moyamoya syndrome with bevacizumab treatment for glioblastoma in a child with neurofibromatosis type 1. J Child Neurol. 2011 Feb; 26(2):228-30.
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  12. Huttner AJ, Kieran MW, Yao X, Cruz L, Ladner J, Quayle K, Goumnerova LC, Irons MB, Ullrich NJ. Clinicopathologic study of glioblastoma in children with neurofibromatosis type 1. Pediatr Blood Cancer. 2010 Jul 1; 54(7):890-6.
    View in: PubMed
  13. Ching MS, Shen Y, Tan WH, Jeste SS, Morrow EM, Chen X, Mukaddes NM, Yoo SY, Hanson E, Hundley R, Austin C, Becker RE, Berry GT, Driscoll K, Engle EC, Friedman S, Gusella JF, Hisama FM, Irons MB, Lafiosca T, LeClair E, Miller DT, Neessen M, Picker JD, Rappaport L, Rooney CM, Sarco DP, Stoler JM, Walsh CA, Wolff RR, Zhang T, Nasir RH, Wu BL. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 5; 153B(4):937-47.
    View in: PubMed
  14. Garry D, Hansen RM, Moskowitz A, Elias ER, Irons M, Fulton AB. Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS). Doc Ophthalmol. 2010 Oct; 121(2):85-91.
    View in: PubMed
  15. Dhar SU, del Gaudio D, German JR, Peters SU, Ou Z, Bader PI, Berg JS, Blazo M, Brown CW, Graham BH, Grebe TA, Lalani S, Irons M, Sparagana S, Williams M, Phillips JA, Beaudet AL, Stankiewicz P, Patel A, Cheung SW, Sahoo T. 22q13.3 deletion syndrome: clinical and molecular analysis using array CGH. Am J Med Genet A. 2010 Mar; 152A(3):573-81.
    View in: PubMed
  16. Ullrich NJ, Ayr L, Leaffer E, Irons MB, Rey-Casserly C. Pilot study of a novel computerized task to assess spatial learning in children and adolescents with neurofibromatosis type 1. J Child Neurol. 2010 Oct; 25(10):1195-202.
    View in: PubMed
  17. Messiaen L, Yao S, Brems H, Callens T, Sathienkijkanchai A, Denayer E, Spencer E, Arn P, Babovic-Vuksanovic D, Bay C, Bobele G, Cohen BH, Escobar L, Eunpu D, Grebe T, Greenstein R, Hachen R, Irons M, Kronn D, Lemire E, Leppig K, Lim C, McDonald M, Narayanan V, Pearn A, Pedersen R, Powell B, Shapiro LR, Skidmore D, Tegay D, Thiese H, Zackai EH, Vijzelaar R, Taniguchi K, Ayada T, Okamoto F, Yoshimura A, Parret A, Korf B, Legius E. Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. JAMA. 2009 Nov 18; 302(19):2111-8.
    View in: PubMed
  18. Seaver LH, Irons M. ACMG practice guideline: genetic evaluation of short stature. Genet Med. 2009 Jun; 11(6):465-70.
    View in: PubMed
  19. Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH. Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am J Hum Genet. 2009 Mar; 84(3):307-15.
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  20. Irons M. The genetics clinic: where does the time go? Genet Med. 2008 Sep; 10(9):657-8.
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  21. Baris HN, Tan WH, Kimonis VE, Irons MB. Diagnostic utility of array-based comparative genomic hybridization in a clinical setting. Am J Med Genet A. 2007 Nov 1; 143A(21):2523-33.
    View in: PubMed
  22. Ullrich NJ, Raja AI, Irons MB, Kieran MW, Goumnerova L. Brainstem lesions in neurofibromatosis type 1. Neurosurgery. 2007 Oct; 61(4):762-6; discussion 766-7.
    View in: PubMed
  23. Shen Y, Irons M, Miller DT, Cheung SW, Lip V, Sheng X, Tomaszewicz K, Shao H, Fang H, Tang HS, Irons M, Walsh CA, Platt O, Gusella JF, Wu BL. Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance. Clin Chem. 2007 Dec; 53(12):2051-9.
    View in: PubMed
  24. Hoffman JD, Irons M, Schwartz CE, Medne L, Zackai EH. A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes. Am J Med Genet A. 2007 Jun 15; 143A(12):1282-6.
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  25. Tan WH, Baris HN, Burrows PE, Robson CD, Alomari AI, Mulliken JB, Fishman SJ, Irons MB. The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. J Med Genet. 2007 Sep; 44(9):594-602.
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  26. del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, Hsich GE, Khera JR, Friedman NR, Zoghbi HY, Eng CM, Lupski JR, Beaudet AL, Cheung SW, Roa BB. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006 Dec; 8(12):784-92.
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  27. Lawson-Yuen A, Berend SA, Soul JS, Irons M. Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum. Clin Dysmorphol. 2006 Oct; 15(4):217-20.
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  28. Baris H, Bejjani BA, Tan WH, Coulter DL, Martin JA, Storm AL, Burton BK, Saitta SC, Gajecka M, Ballif BC, Irons MB, Shaffer LG, Kimonis VE. Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene. Am J Med Genet A. 2006 Sep 1; 140A(17):1876-9.
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  29. Craig WY, Haddow JE, Palomaki GE, Kelley RI, Kratz LE, Shackleton CH, Marcos J, Stephen Tint G, MacRae AR, Nowaczyk MJ, Kloza EM, Irons MB, Roberson M. Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome. Prenat Diagn. 2006 Sep; 26(9):842-9.
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  30. Alkuraya FS, Picker J, Irons MB, Kimonis VE. Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work? Birth Defects Res A Clin Mol Teratol. 2005 Aug; 73(8):569-71.
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  31. Wakui K, Gregato G, Ballif BC, Glotzbach CD, Bailey KA, Kuo PL, Sue WC, Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG. Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. Eur J Hum Genet. 2005 May; 13(5):528-40.
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  32. Alkuraya FS, Lin AE, Irons MB, Kimonis VE. Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement. Am J Med Genet A. 2005 Jan 15; 132A(2):226-30.
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  33. Rahbar R, Litrovnik BG, Vargas SO, Robson CD, Nuss RC, Irons MB, McGill TJ, Healy GB. The biology and management of laryngeal neurofibroma. Arch Otolaryngol Head Neck Surg. 2004 Dec; 130(12):1400-6.
    View in: PubMed
  34. Irons MB. Cholesterol in childhood: friend or foe?: Commentary on the article by Merkens et al. on page 726. Pediatr Res. 2004 Nov; 56(5):679-81.
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  35. Roberts AE, Irons MB, Kimonis VE, Mulliken JB, Morton CC, Lee C, Listewnik M. Description of a case of distal 2p trisomy by array-based comparative genomic hybridization: a high resolution genome-wide investigation for chromosomal aneuploidy in a single assay. Am J Med Genet A. 2004 Oct 1; 130A(2):204-7.
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  36. Roberts AE, Cox GF, Kimonis V, Lamb A, Irons M. Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature. Am J Med Genet A. 2004 Aug 1; 128A(4):352-63.
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  37. Stewart DR, Huang A, Faravelli F, Anderlid BM, Medne L, Ciprero K, Kaur M, Rossi E, Tenconi R, Nordenskjöld M, Gripp KW, Nicholson L, Meschino WS, Capua E, Quarrell OW, Flint J, Irons M, Giampietro PF, Schowalter DB, Zaleski CA, Malacarne M, Zackai EH, Spinner NB, Krantz ID. Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. Am J Med Genet A. 2004 Aug 1; 128A(4):340-51.
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  38. Rhead WJ, Irons M. The call from the newborn screening laboratory: frustration in the afternoon. Pediatr Clin North Am. 2004 Jun; 51(3):803-18, xii.
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  39. Elias ER, Hansen RM, Irons M, Quinn NB, Fulton AB. Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome. Arch Ophthalmol. 2003 Dec; 121(12):1738-43.
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  40. Irons M. Use of subtelomeric fluorescence in situ hybridization in cytogenetic diagnosis. Curr Opin Pediatr. 2003 Dec; 15(6):594-7.
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  41. Toriello HV, Carey JC, Addor MC, Allen W, Burke L, Chun N, Dobyns W, Elias E, Gallagher R, Hordijk R, Hoyme G, Irons M, Jewett T, LeMerrer M, Lubinsky M, Martin R, McDonald-McGinn D, Neumann L, Newman W, Pauli R, Seaver L, Tsai A, Wargowsky D, Williams M, Zackai E. Toriello-Carey syndrome: delineation and review. Am J Med Genet A. 2003 Nov 15; 123A(1):84-90.
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  42. Mueller C, Patel S, Irons M, Antshel K, Salen G, Tint GS, Bay C. Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease. Am J Med Genet A. 2003 Nov 15; 123A(1):100-6.
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  43. Caruso PA, Poussaint TY, Tzika AA, Zurakowski D, Astrakas LG, Elias ER, Bay C, Irons MB. MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome. Neuroradiology. 2004 Jan; 46(1):3-14.
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  44. Wu BL, Kenna M, Lip V, Irons M, Platt O. Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness. Am J Med Genet A. 2003 Aug 30; 121A(2):102-8.
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  45. Lin AE, Terry SF, Lerner B, Anderson R, Irons M. Participation by clinical geneticists in genetic advocacy groups. Am J Med Genet A. 2003 May 15; 119A(1):89-92.
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  46. Lin AE, Grossfeld PD, Hamilton RM, Smoot L, Gripp KW, Proud V, Weksberg R, Wheeler P, Picker J, Irons M, Zackai E, Marino B, Scott CI, Nicholson L. Further delineation of cardiac abnormalities in Costello syndrome. Am J Med Genet. 2002 Aug 1; 111(2):115-29.
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  47. Wu BL, Lindeman N, Lip V, Adams A, Amato RS, Cox G, Irons M, Kenna M, Korf B, Raisen J, Platt O. Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing. Genet Med. 2002 Jul-Aug; 4(4):279-88.
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  48. Puliyanda DP, Harmon WE, Peterschmitt MJ, Irons M, Somers MJ. Utility of hemodialysis in maple syrup urine disease. Pediatr Nephrol. 2002 Apr; 17(4):239-42.
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  49. Albers S, Levy HL, Irons M, Strauss AW, Marsden D. Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2001 Jun; 24(3):417-8.
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  50. Albers S, Marsden D, Quackenbush E, Stark AR, Levy HL, Irons M. Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry. Pediatrics. 2001 Jun; 107(6):E103.
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  51. Lee C, Murray MF, Miron PM, Marsden D, Irons M, Wilkins-Haug LE, Morton CC. Clinical picture: Multicolour karyotyping. Lancet. 2001 Apr 21; 357(9264):1240.
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  52. Williard DE, Nwankwo JO, Kaduce TL, Harmon SD, Irons M, Moser HW, Raymond GV, Spector AA. Identification of a fatty acid delta6-desaturase deficiency in human skin fibroblasts. J Lipid Res. 2001 Apr; 42(4):501-8.
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  53. Hsich GE, Robertson RL, Irons M, Soul JS, du Plessis AJ. Cerebral infarction in Menkes' disease. Pediatr Neurol. 2000 Nov; 23(5):425-8.
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  54. Brocks D, Irons M, Sadeghi-Najad A, McCauley R, Wheeler P. Gomez-Lopez-Hernandez syndrome: expansion of the phenotype. Am J Med Genet. 2000 Oct 23; 94(5):405-8.
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  55. Yu H, Lee MH, Starck L, Elias ER, Irons M, Salen G, Patel SB, Tint GS. Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome. Hum Mol Genet. 2000 May 22; 9(9):1385-91.
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  56. Irons MB, Nores J, Stewart TL, Craigo SD, Bianchi DW, D'Alton ME, Tint GS, Salen G, Bradley LA. Antenatal therapy of Smith-Lemli-Opitz syndrome. Fetal Diagn Ther. 1999 May-Jun; 14(3):133-7.
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  57. Bradley LA, Palomaki GE, Knight GJ, Haddow JE, Opitz JM, Irons M, Kelley RI, Tint GS. Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses. Am J Med Genet. 1999 Feb 12; 82(4):355-8.
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  58. Stewart TL, Irons MB, Cowan JM, Bianchi DW. Increased incidence of renal anomalies in patients with chromosome 22q11 microdeletion. Teratology. 1999 Jan; 59(1):20-2.
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  59. Tint GS, Abuelo D, Till M, Cordier MP, Batta AK, Shefer S, Honda A, Honda M, Xu G, Irons M, Elias ER, Salen G. Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols. Prenat Diagn. 1998 Jul; 18(7):651-8.
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  60. Irons MB, Tint GS. Prenatal diagnosis of Smith-Lemli-Opitz syndrome. Prenat Diagn. 1998 Apr; 18(4):369-72.
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  61. Ming JE, McDonald-McGinn DM, Megerian TE, Driscoll DA, Elias ER, Russell BM, Irons M, Emanuel BS, Markowitz RI, Zackai EH. Skeletal anomalies and deformities in patients with deletions of 22q11. Am J Med Genet. 1997 Oct 17; 72(2):210-5.
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  62. Elias ER, Irons MB, Hurley AD, Tint GS, Salen G. Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS) Am J Med Genet. 1997 Jan 31; 68(3):305-10.
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  63. Irons M, Elias ER, Abuelo D, Bull MJ, Greene CL, Johnson VP, Keppen L, Schanen C, Tint GS, Salen G. Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial. Am J Med Genet. 1997 Jan 31; 68(3):311-4.
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  64. Tint GS, Batta AK, Xu G, Shefer S, Honda A, Irons M, Elias ER, Salen G. The Smith-Lemli-Opitz syndrome: a potentially fatal birth defect caused by a block in the last enzymatic step in cholesterol biosynthesis. Subcell Biochem. 1997; 28:117-44.
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  65. Irons MB, Bianchi DW, Geggel RL, Marx GR, Bhan I. Possible new autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes. Am J Med Genet. 1996 Dec 2; 66(1):69-71.
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  66. Salen G, Shefer S, Batta AK, Tint GS, Xu G, Honda A, Irons M, Elias ER. Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. J Lipid Res. 1996 Jun; 37(6):1169-80.
    View in: PubMed
  67. Salen G, Tint GS, Xu G, Batta AK, Irons M, Elias ER. Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. Ital J Gastroenterol. 1995 Dec; 27(9):506-8.
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  68. Elias ER, Irons M. Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndrome. Curr Opin Pediatr. 1995 Dec; 7(6):710-4.
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  69. Shefer S, Salen G, Batta AK, Honda A, Tint GS, Irons M, Elias ER, Chen TC, Holick MF. Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. J Clin Invest. 1995 Oct; 96(4):1779-85.
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  70. Tint GS, Salen G, Batta AK, Shefer S, Irons M, Elias ER, Abuelo DN, Johnson VP, Lambert M, Lutz R, et al. Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome. J Pediatr. 1995 Jul; 127(1):82-7.
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  71. Tint GS, Seller M, Hughes-Benzie R, Batta AK, Shefer S, Genest D, Irons M, Elias E, Salen G. Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome. J Lipid Res. 1995 Jan; 36(1):89-95.
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  72. Irons M, Elias ER, Tint GS, Salen G, Frieden R, Buie TM, Ampola M. Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient. Am J Med Genet. 1994 May 1; 50(4):347-52.
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  73. Tint GS, Irons M, Elias ER, Batta AK, Frieden R, Chen TS, Salen G. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med. 1994 Jan 13; 330(2):107-13.
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  74. Irons M. Screening for metabolic disorders. How are we doing? Pediatr Clin North Am. 1993 Oct; 40(5):1073-85.
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  75. Irons M, Elias ER, Salen G, Tint GS, Batta AK. Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet. 1993 May 29; 341(8857):1414.
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  76. Thayer B, Braddock B, Spitzer K, Irons M, Miller W, Bailey I, Rosenbaum B, Blatt RJ. Development of a peer support system for those who have chosen pregnancy termination after prenatal diagnosis of a fetal abnormality. Birth Defects Orig Artic Ser. 1990; 26(3):149-56.
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  77. Lockwood C, Irons M, Troiani J, Kawada C, Chaudhury A, Cetrulo C. The prenatal sonographic diagnosis of lethal multiple pterygium syndrome: a heritable cause of recurrent abortion. Am J Obstet Gynecol. 1988 Aug; 159(2):474-6.
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  78. Irons M, Levy HL, O'Flynn ME, Stack CV, Langlais PJ, Butler IJ, Milstien S, Kaufman S. Folinic acid therapy in treatment of dihydropteridine reductase deficiency. J Pediatr. 1987 Jan; 110(1):61-7.
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  79. Irons M, Levy HL. Metabolic syndromes with dermatologic manifestations. Clin Rev Allergy. 1986 Feb; 4(1):101-24.
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  80. Irons M, Levy HL, Pueschel S, Castree K. Accumulation of galactose-1-phosphate in the galactosemic fetus despite maternal milk avoidance. J Pediatr. 1985 Aug; 107(2):261-3.
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