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Items: 1 to 50 of 58

1.

The Personal Financial Burden Associated with Musculoskeletal Trauma.

Bhashyam AR, McGovern MM, Mueller T, Heng M, Harris MB, Weaver MJ.

J Bone Joint Surg Am. 2019 Jul 17;101(14):1245-1252. doi: 10.2106/JBJS.18.01114.

PMID:
31318803
2.

Multiple supporting cell subtypes are capable of spontaneous hair cell regeneration in the neonatal mouse cochlea.

McGovern MM, Randle MR, Cuppini CL, Graves KA, Cox BC.

Development. 2019 Feb 15;146(4). pii: dev171009. doi: 10.1242/dev.171009.

3.

Recruitment & retention program for the NeuroNEXT SMA Biomarker Study: Super Babies for SMA!

Bartlett A, Kolb SJ, Kingsley A, Swoboda KJ, Reyna SP, Sakonju A, Darras BT, Shell R, Kuntz N, Castro D, Iannaccone ST, Parsons J, Connolly AM, Chiriboga CA, McDonald C, Burnette WB, Werner K, Thangarajh M, Shieh PB, Finanger E, Coffey CS, Yankey JW, Cudkowicz ME, McGovern MM, McNeil DE, Arnold WD, Kissel JT; NeuroNEXT Clinical Trial Network and on behalf of the NN101 SMA Biomarker Investigators.

Contemp Clin Trials Commun. 2018 Jul 20;11:113-119. doi: 10.1016/j.conctc.2018.07.002. eCollection 2018 Sep.

4.

Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients.

Cox GF, Clarke LA, Giugliani R, McGovern MM.

JIMD Rep. 2018;41:119-129. doi: 10.1007/8904_2018_120. Epub 2018 Jul 12.

5.

Spontaneous Hair Cell Regeneration Is Prevented by Increased Notch Signaling in Supporting Cells.

McGovern MM, Zhou L, Randle MR, Cox BC.

Front Cell Neurosci. 2018 May 4;12:120. doi: 10.3389/fncel.2018.00120. eCollection 2018.

6.

Natural history of infantile-onset spinal muscular atrophy.

Kolb SJ, Coffey CS, Yankey JW, Krosschell K, Arnold WD, Rutkove SB, Swoboda KJ, Reyna SP, Sakonju A, Darras BT, Shell R, Kuntz N, Castro D, Parsons J, Connolly AM, Chiriboga CA, McDonald C, Burnette WB, Werner K, Thangarajh M, Shieh PB, Finanger E, Cudkowicz ME, McGovern MM, McNeil DE, Finkel R, Iannaccone ST, Kaye E, Kingsley A, Renusch SR, McGovern VL, Wang X, Zaworski PG, Prior TW, Burghes AHM, Bartlett A, Kissel JT; NeuroNEXT Clinical Trial Network on behalf of the NN101 SMA Biomarker Investigators.

Ann Neurol. 2017 Dec;82(6):883-891. doi: 10.1002/ana.25101. Epub 2017 Dec 8.

7.

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.

McGovern MM, Dionisi-Vici C, Giugliani R, Hwu P, Lidove O, Lukacs Z, Eugen Mengel K, Mistry PK, Schuchman EH, Wasserstein MP.

Genet Med. 2017 Sep;19(9):967-974. doi: 10.1038/gim.2017.7. Epub 2017 Apr 13. Review.

8.

Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD).

McGovern MM, Avetisyan R, Sanson BJ, Lidove O.

Orphanet J Rare Dis. 2017 Feb 23;12(1):41. doi: 10.1186/s13023-017-0572-x. Review.

9.

Quantitative Analysis of Supporting Cell Subtype Labeling Among CreER Lines in the Neonatal Mouse Cochlea.

McGovern MM, Brancheck J, Grant AC, Graves KA, Cox BC.

J Assoc Res Otolaryngol. 2017 Apr;18(2):227-245. doi: 10.1007/s10162-016-0598-0. Epub 2016 Nov 21.

10.

Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study.

Kolb SJ, Coffey CS, Yankey JW, Krosschell K, Arnold WD, Rutkove SB, Swoboda KJ, Reyna SP, Sakonju A, Darras BT, Shell R, Kuntz N, Castro D, Iannaccone ST, Parsons J, Connolly AM, Chiriboga CA, McDonald C, Burnette WB, Werner K, Thangarajh M, Shieh PB, Finanger E, Cudkowicz ME, McGovern MM, McNeil DE, Finkel R, Kaye E, Kingsley A, Renusch SR, McGovern VL, Wang X, Zaworski PG, Prior TW, Burghes AH, Bartlett A, Kissel JT; NeuroNEXT Clinical Trial Network and on behalf of the NN101 SMA Biomarker Investigators.

Ann Clin Transl Neurol. 2016 Jan 21;3(2):132-45. doi: 10.1002/acn3.283. eCollection 2016 Feb.

11.

Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency).

McGovern MM, Wasserstein MP, Kirmse B, Duvall WL, Schiano T, Thurberg BL, Richards S, Cox GF.

Genet Med. 2016 Jan;18(1):34-40. doi: 10.1038/gim.2015.24. Epub 2015 Apr 2.

PMID:
25834946
12.

Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patients.

Chuang WL, Pacheco J, Cooper S, McGovern MM, Cox GF, Keutzer J, Zhang XK.

Mol Genet Metab. 2014 Feb;111(2):209-11. doi: 10.1016/j.ymgme.2013.11.012. Epub 2013 Dec 7.

PMID:
24418695
13.

Morbidity and mortality in type B Niemann-Pick disease.

McGovern MM, Lippa N, Bagiella E, Schuchman EH, Desnick RJ, Wasserstein MP.

Genet Med. 2013 Aug;15(8):618-23. doi: 10.1038/gim.2013.4. Epub 2013 Feb 14.

PMID:
23412609
14.

Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B.

Wasserstein M, Godbold J, McGovern MM.

J Inherit Metab Dis. 2013 Jan;36(1):123-7. doi: 10.1007/s10545-012-9503-0. Epub 2012 Jun 21.

PMID:
22718274
15.

Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B).

Thurberg BL, Wasserstein MP, Schiano T, O'Brien F, Richards S, Cox GF, McGovern MM.

Am J Surg Pathol. 2012 Aug;36(8):1234-46. doi: 10.1097/PAS.0b013e31825793ff.

16.

A microbial association with autism.

Benach JL, Li E, McGovern MM.

MBio. 2012 Feb 14;3(1). pii: e00019-12. doi: 10.1128/mBio.00019-12. Print 2012.

17.

Imaging manifestations of Niemann-Pick disease type B.

Simpson WL Jr, Mendelson D, Wasserstein MP, McGovern MM.

AJR Am J Roentgenol. 2010 Jan;194(1):W12-9. doi: 10.2214/AJR.09.2871.

PMID:
20028884
18.

Use of complementary and alternative medicine by patients with lysosomal storage diseases.

Balwani M, Fuerstman L, Desnick RJ, Buckley B, McGovern MM.

Genet Med. 2009 Oct;11(10):722-7. doi: 10.1097/GIM.0b013e3181b182c3.

PMID:
19745751
19.

Randomized trial of a decision aid for BRCA1/BRCA2 mutation carriers: impact on measures of decision making and satisfaction.

Schwartz MD, Valdimarsdottir HB, DeMarco TA, Peshkin BN, Lawrence W, Rispoli J, Brown K, Isaacs C, O'Neill S, Shelby R, Grumet SC, McGovern MM, Garnett S, Bremer H, Leaman S, O'Mara K, Kelleher S, Komaridis K.

Health Psychol. 2009 Jan;28(1):11-19. doi: 10.1037/a0013147.

20.

Clinician perspectives about molecular genetic testing for heritable conditions and development of a clinician-friendly laboratory report.

Lubin IM, McGovern MM, Gibson Z, Gross SJ, Lyon E, Pagon RA, Pratt VM, Rashid J, Shaw C, Stoddard L, Trotter TL, Williams MS, Amos Wilson J, Pass K.

J Mol Diagn. 2009 Mar;11(2):162-71. doi: 10.2353/jmoldx.2009.080130. Epub 2009 Feb 5.

21.

Ordering molecular genetic tests and reporting results: practices in laboratory and clinical settings.

Lubin IM, Caggana M, Constantin C, Gross SJ, Lyon E, Pagon RA, Trotter TL, Wilson JA, McGovern MM.

J Mol Diagn. 2008 Sep;10(5):459-68. doi: 10.2353/jmoldx.2008.080050. Epub 2008 Jul 31.

22.

A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.

McGovern MM, Wasserstein MP, Giugliani R, Bembi B, Vanier MT, Mengel E, Brodie SE, Mendelson D, Skloot G, Desnick RJ, Kuriyama N, Cox GF.

Pediatrics. 2008 Aug;122(2):e341-9. doi: 10.1542/peds.2007-3016. Epub 2008 Jul 14.

23.

Ethics of using a bone marrow donor with Klinefelter syndrome.

McGovern MM, Rhodes R.

Pediatr Transplant. 2008 Aug;12(5):496-8. doi: 10.1111/j.1399-3046.2008.00930.x. Epub 2008 Jun 4. No abstract available.

PMID:
18537900
24.

Association between temporal orientation and attitudes about BRCA1/2 testing among women of African descent with family histories of breast cancer.

Edwards TA, Thompson HS, Kwate NO, Brown K, McGovern MM, Forman A, Kapil-Pair N, Jandorf L, Bovbjerg DH, Valdimarsdottir HB.

Patient Educ Couns. 2008 Aug;72(2):276-82. doi: 10.1016/j.pec.2008.03.021. Epub 2008 May 13.

25.

Molecular genetic testing in the United States: comparison with international practice.

McGovern MM, Elles R, Ronchi E, Boone J, Lubin IM.

Genet Test. 2008 Jun;12(2):187-93. doi: 10.1089/gte.2007.0087.

PMID:
18407746
26.

Report of an international survey of molecular genetic testing laboratories.

McGovern MM, Elles R, Beretta I, Somerville MJ, Hoefler G, Keinanen M, Barton D, Carson N, Dequeker E, Brdicka R, Blazkova A, Aymé S, Schnieders B, Muller CR, Dalen V, Martinez AA, Kristoffersson U, Ozguc M, Mueller H, Boone J, Lubin IM, Sequeiros J, Taruscio D, Williamson B, Mainland L, Yoshikura H, Ronchi E.

Community Genet. 2007;10(3):123-31.

PMID:
17575456
27.

Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease.

Wasserstein MP, Aron A, Brodie SE, Simonaro C, Desnick RJ, McGovern MM.

J Pediatr. 2006 Oct;149(4):554-9.

PMID:
17011332
28.

Use of standardized patients in, undergraduate medical genetics education.

McGovern MM, Johnston M, Brown K, Zinberg R, Cohen D.

Teach Learn Med. 2006 Summer;18(3):203-7.

PMID:
16776606
29.

Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease.

Simonaro CM, Park JH, Eliyahu E, Shtraizent N, McGovern MM, Schuchman EH.

Am J Hum Genet. 2006 May;78(5):865-870. doi: 10.1086/503750. Epub 2006 Mar 14.

30.

Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials.

McGovern MM, Aron A, Brodie SE, Desnick RJ, Wasserstein MP.

Neurology. 2006 Jan 24;66(2):228-32.

PMID:
16434659
31.

Referral and experience with genetic testing among women with early onset breast cancer.

Brown KL, Hutchison R, Zinberg RE, McGovern MM.

Genet Test. 2005 Winter;9(4):301-5.

PMID:
16379543
32.

Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing.

Mendelson DS, Wasserstein MP, Desnick RJ, Glass R, Simpson W, Skloot G, Vanier M, Bembi B, Giugliani R, Mengel E, Cox GF, McGovern MM.

Radiology. 2006 Jan;238(1):339-45. Epub 2005 Nov 22.

PMID:
16304086
33.

The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study.

Wasserstein MP, Desnick RJ, Schuchman EH, Hossain S, Wallenstein S, Lamm C, McGovern MM.

Pediatrics. 2004 Dec;114(6):e672-7. Epub 2004 Nov 15.

PMID:
15545621
34.

Lipid abnormalities in children with types A and B Niemann Pick disease.

McGovern MM, Pohl-Worgall T, Deckelbaum RJ, Simpson W, Mendelson D, Desnick RJ, Schuchman EH, Wasserstein MP.

J Pediatr. 2004 Jul;145(1):77-81.

PMID:
15238911
35.

Ocular manifestations of Niemann-Pick disease type B.

McGovern MM, Wasserstein MP, Aron A, Desnick RJ, Schuchman EH, Brodie SE.

Ophthalmology. 2004 Jul;111(7):1424-7.

PMID:
15234149
36.

Attitudes and psychosocial adjustment of unaffected siblings of patients with phenylketonuria.

Pho LT, Zinberg RE, Hopkins-Boomer TA, Wallenstein S, McGovern MM.

Am J Med Genet A. 2004 Apr 15;126A(2):156-60.

PMID:
15057980
37.

Biochemical effect of intravenous arginine butyrate in X-linked adrenoleukodystrophy.

McGovern MM, Wasserstein MP, Aron A, Perrine SP.

J Pediatr. 2003 Jun;142(6):709-13.

PMID:
12838202
38.

International genetic testing.

Cox SM, Faucett WA, Chen B, Dequeker E, Boone DJ, McGovern MM, Lubin IM.

Genet Med. 2003 May-Jun;5(3):176-82. No abstract available.

PMID:
12792426
39.
40.

Growth restriction in children with type B Niemann-Pick disease.

Wasserstein MP, Larkin AE, Glass RB, Schuchman EH, Desnick RJ, McGovern MM.

J Pediatr. 2003 Apr;142(4):424-8.

PMID:
12712061
41.

Personnel standards and quality assurance practices of biochemical genetic testing laboratories in the United States.

McGovern MM, Benach M, Wallenstein S, Boone J, Lubin IM.

Arch Pathol Lab Med. 2003 Jan;127(1):71-6.

PMID:
12521371
42.

The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.

Simonaro CM, Desnick RJ, McGovern MM, Wasserstein MP, Schuchman EH.

Am J Hum Genet. 2002 Dec;71(6):1413-9. Epub 2002 Oct 4.

43.

Attitudes of pediatric residents toward ethical issues associated with genetic testing in children.

Rosen A, Wallenstein S, McGovern MM.

Pediatrics. 2002 Aug;110(2 Pt 1):360-3.

PMID:
12165591
44.
45.

Lethal osteosclerotic skeletal dysplasia with intracellular inclusion bodies.

Brodie SG, Lachman RS, McGovern MM, Mekikian PB, Wilcox WR.

Am J Med Genet. 1999 Apr 23;83(5):372-7.

PMID:
10232746
46.

Quality assurance in molecular genetic testing laboratories.

McGovern MM, Benach MO, Wallenstein S, Desnick RJ, Keenlyside R.

JAMA. 1999 Mar 3;281(9):835-40.

PMID:
10071006
47.

Acceptability of chorionic villi sampling for prenatal diagnosis.

McGovern MM, Goldberg JD, Desnick RJ.

Am J Obstet Gynecol. 1986 Jul;155(1):25-9.

PMID:
3728601
48.

Bone marrow transplantation in Maroteaux-Lamy syndrome (MPS type 6): status 40 months after BMT.

McGovern MM, Ludman MD, Short MP, Steinfeld L, Kattan M, Raab EL, Krivit W, Desnick RJ.

Birth Defects Orig Artic Ser. 1986;22(1):41-53. No abstract available.

PMID:
3083886
50.

Bone-marrow transplantation in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Biochemical and clinical status 24 months after transplantation.

Krivit W, Pierpont ME, Ayaz K, Tsai M, Ramsay NK, Kersey JH, Weisdorf S, Sibley R, Snover D, McGovern MM, et al.

N Engl J Med. 1984 Dec 20;311(25):1606-11.

PMID:
6150438

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