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Items: 1 to 50 of 113

1.

Patient-Reported Chronic Pain Outcomes After Lung Transplantation.

Klinger RY, Cunniff C, Mamoun N, Cooter M, Hashmi N, Hopkins T, Smith P, Hartwig M, Bottiger B.

Semin Cardiothorac Vasc Anesth. 2019 Oct 16:1089253219882432. doi: 10.1177/1089253219882432. [Epub ahead of print]

PMID:
31617443
2.

Priorities for Newborn Screening of Genetic Epilepsy.

Hess-Homeier DL, Cunniff C, Grinspan ZM.

Pediatr Neurol. 2019 Dec;101:83-85. doi: 10.1016/j.pediatrneurol.2019.07.009. Epub 2019 Jul 29. No abstract available.

PMID:
31570297
3.

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.

Snijders Blok L, Kleefstra T, Venselaar H, Maas S, Kroes HY, Lachmeijer AMA, van Gassen KLI, Firth HV, Tomkins S, Bodek S; DDD Study, Õunap K, Wojcik MH, Cunniff C, Bergstrom K, Powis Z, Tang S, Shinde DN, Au C, Iglesias AD, Izumi K, Leonard J, Abou Tayoun A, Baker SW, Tartaglia M, Niceta M, Dentici ML, Okamoto N, Miyake N, Matsumoto N, Vitobello A, Faivre L, Philippe C, Gilissen C, Wiel L, Pfundt R, Deriziotis P, Brunner HG, Fisher SE.

Am J Hum Genet. 2019 Aug 1;105(2):403-412. doi: 10.1016/j.ajhg.2019.06.007. Epub 2019 Jul 11.

PMID:
31303265
4.

Descriptive and risk factor analysis of nonsyndromic sacral agenesis: National Birth Defects Prevention Study, 1997-2011.

Nalbandyan M, Howley MM, Cunniff CM, Romitti PA, Browne ML; National Birth Defects Prevention Study.

Am J Med Genet A. 2019 Sep;179(9):1799-1814. doi: 10.1002/ajmg.a.61290. Epub 2019 Jul 11.

PMID:
31294918
5.

Rapidly Progressive Multisutural Craniosynostosis in a Patient With Jackson-Weiss Syndrome and a De Novo FGFR2 Pathogenic Variant.

Celie KB, Yuan M, Cunniff C, Bogue J, Hoffman C, Imahiyerobo T.

Cleft Palate Craniofac J. 2019 Nov;56(10):1386-1392. doi: 10.1177/1055665619851642. Epub 2019 May 23.

PMID:
31122048
6.

Palliative care services in families of males with muscular dystrophy: Data from MD STARnet.

Andrews JG, Pandya S, Trout C, Jaff T, Matthews D, Cunniff C, Meaney FJ.

SAGE Open Med. 2019 Mar 27;7:2050312119840518. doi: 10.1177/2050312119840518. eCollection 2019.

7.

Bloom Syndrome.

Flanagan M, Cunniff CM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2006 Mar 22 [updated 2019 Feb 14].

8.

A Review of MD STAR net's Research Contributions to Pediatric-Onset Dystrophinopathy in the United States; 2002-2017.

Sahay KM, Smith T, Conway KM, Romitti PA, Lamb MM, Andrews J, Pandya S, Oleszek J, Cunniff C, Valdez R.

J Child Neurol. 2019 Jan;34(1):44-53. doi: 10.1177/0883073818801704. Epub 2018 Oct 22.

PMID:
30345857
9.

Diagnostic Accuracy of Phenotype Classification in Duchenne and Becker Muscular Dystrophy Using Medical Record Data1.

Andrews JG, Lamb MM, Conway K, Street N, Westfield C, Ciafaloni E, Matthews D, Cunniff C, Pandya S, Fox DJ; MD STARnet.

J Neuromuscul Dis. 2018;5(4):481-495. doi: 10.3233/JND-180306.

10.

Maternal antihypertensive medication use and selected birth defects in the National Birth Defects Prevention Study.

Fisher SC, Van Zutphen AR, Werler MM, Romitti PA, Cunniff C, Browne ML; National Birth Defects Prevention Study.

Birth Defects Res. 2018 Nov 15;110(19):1433-1442. doi: 10.1002/bdr2.1372. Epub 2018 Sep 10.

PMID:
30260586
11.

Descriptive epidemiology of cerebellar hypoplasia in the National Birth Defects Prevention Study.

Howley MM, Keppler-Noreuil KM, Cunniff CM, Browne ML; National Birth Defects Prevention Study.

Birth Defects Res. 2018 Nov 15;110(19):1419-1432. doi: 10.1002/bdr2.1388. Epub 2018 Sep 19.

12.

Muscular Dystrophy Surveillance, Tracking, and Research Network pilot: Population-based surveillance of major muscular dystrophies at four U.S. sites, 2007-2011.

Do TN, Street N, Donnelly J, Adams MM, Cunniff C, Fox DJ, Weinert RO, Oleszek J, Romitti PA, Westfield CP, Bolen J; Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).

Birth Defects Res. 2018 Nov 15;110(19):1404-1411. doi: 10.1002/bdr2.1371. Epub 2018 Aug 2.

13.

Health supervision for people with Bloom syndrome.

Cunniff C, Djavid AR, Carrubba S, Cohen B, Ellis NA, Levy CF, Jeong S, Lederman HM, Vogiatzi M, Walsh MF, Zauber AG.

Am J Med Genet A. 2018 Sep;176(9):1872-1881. doi: 10.1002/ajmg.a.40374. Epub 2018 Jul 28.

PMID:
30055079
14.

Implementation of Duchenne Muscular Dystrophy Care Considerations.

Andrews JG, Conway K, Westfield C, Trout C, Meaney FJ, Mathews K, Ciafaloni E, Cunniff C, Fox DJ, Matthews D, Pandya S.

Pediatrics. 2018 Jul;142(1). pii: e20174006. doi: 10.1542/peds.2017-4006. Epub 2018 Jun 20.

15.

Recognition of clinical characteristics for population-based surveillance of fetal alcohol syndrome.

Andrews JG, Galindo MK, Meaney FJ, Benavides A, Mayate L, Fox D, Pettygrove S, O'Leary L, Cunniff C.

Birth Defects Res. 2018 Jun 1;110(10):851-862. doi: 10.1002/bdr2.1203. Epub 2018 Jan 25.

16.

Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.

Powis Z, Farwell Hagman KD, Mroske C, McWalter K, Cohen JS, Colombo R, Serretti A, Fatemi A, David KL, Reynolds J, Immken L, Nagakura H, Cunniff CM, Payne K, Barbaro-Dieber T, Gripp KW, Baker L, Stamper T, Aleck KA, Jordan ES, Hersh JH, Burton J, Wentzensen IM, Guillen Sacoto MJ, Willaert R, Cho MT, Petrik I, Huether R, Tang S.

Clin Genet. 2018 Apr;93(4):752-761. doi: 10.1111/cge.13132. Epub 2018 Jan 7.

PMID:
28881385
17.

Noninvasive Respiratory Care Received by Individuals With Duchenne Muscular Dystrophy Since 1979-Reply.

Andrews JG, Soim A, Pandya S, Westfield CP, Ciafaloni E, Fox DJ, Birnkrant DJ, Cunniff CM, Sheehan DW.

Respir Care. 2017 Aug;62(8):1121-1122. doi: 10.4187/respcare.05675. No abstract available.

18.

Linking the degree of virilization in females with congenital adrenal hyperplasia to genotype.

Gurgov S, Bernabé KJ, Stites J, Cunniff CM, Lin-Su K, Felsen D, New MI, Poppas DP.

Ann N Y Acad Sci. 2017 Aug;1402(1):56-63. doi: 10.1111/nyas.13370. Epub 2017 Jun 22.

PMID:
28640966
19.

Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.

Walsh MF, Chang VY, Kohlmann WK, Scott HS, Cunniff C, Bourdeaut F, Molenaar JJ, Porter CC, Sandlund JT, Plon SE, Wang LL, Savage SA.

Clin Cancer Res. 2017 Jun 1;23(11):e23-e31. doi: 10.1158/1078-0432.CCR-17-0465. Review.

20.

Secondary Conditions Among Males With Duchenne or Becker Muscular Dystrophy.

Latimer R, Street N, Conway KC, James K, Cunniff C, Oleszek J, Fox D, Ciafaloni E, Westfield C, Paramsothy P; Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STAR net).

J Child Neurol. 2017 Jun;32(7):663-670. doi: 10.1177/0883073817701368. Epub 2017 Apr 9.

21.

Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition.

Cunniff C, Bassetti JA, Ellis NA.

Mol Syndromol. 2017 Jan;8(1):4-23. doi: 10.1159/000452082. Epub 2016 Nov 5. Review.

22.

Rapidly progressive mitral valve stenosis in patients with acromelic dysplasia.

Rama G, Chung WK, Cunniff CM, Krishnan U.

Cardiol Young. 2017 May;27(4):797-800. doi: 10.1017/S1047951116002006. Epub 2017 Jan 12.

PMID:
28077185
23.

DSM Criteria that Best Differentiate Intellectual Disability from Autism Spectrum Disorder.

Pedersen AL, Pettygrove S, Lu Z, Andrews J, Meaney FJ, Kurzius-Spencer M, Lee LC, Durkin MS, Cunniff C.

Child Psychiatry Hum Dev. 2017 Aug;48(4):537-545. doi: 10.1007/s10578-016-0681-0.

PMID:
27558812
24.

Respiratory Care Received by Individuals With Duchenne Muscular Dystrophy From 2000 to 2011.

Andrews JG, Soim A, Pandya S, Westfield CP, Ciafaloni E, Fox DJ, Birnkrant DJ, Cunniff CM, Sheehan DW; Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).

Respir Care. 2016 Oct;61(10):1349-59. doi: 10.4187/respcare.04676. Epub 2016 Aug 9.

25.

Brief Report: The Prevalence of Neurofibromatosis Type 1 among Children with Autism Spectrum Disorder Identified by the Autism and Developmental Disabilities Monitoring Network.

Bilder DA, Bakian AV, Stevenson DA, Carbone PS, Cunniff C, Goodman AB, McMahon WM, Fisher NP, Viskochil D.

J Autism Dev Disord. 2016 Oct;46(10):3369-76. doi: 10.1007/s10803-016-2877-3.

26.

Age at onset of first signs or symptoms predicts age at loss of ambulation in Duchenne and Becker Muscular Dystrophy: Data from the MD STARnet.

Ciafaloni E, Kumar A, Liu K, Pandya S, Westfield C, Fox DJ, Caspers Conway KM, Cunniff C, Mathews K, West N, Romitti PA, McDermott MP.

J Pediatr Rehabil Med. 2016;9(1):5-11. doi: 10.3233/PRM-160361.

27.

Fluconazole use and birth defects in the National Birth Defects Prevention Study.

Howley MM, Carter TC, Browne ML, Romitti PA, Cunniff CM, Druschel CM; National Birth Defects Prevention Study.

Am J Obstet Gynecol. 2016 May;214(5):657.e1-9. doi: 10.1016/j.ajog.2015.11.022. Epub 2015 Nov 30.

PMID:
26640069
28.

Methods for surveillance of fetal alcohol syndrome: The Fetal Alcohol Syndrome Surveillance Network II (FASSNetII) - Arizona, Colorado, New York, 2009 - 2014.

O'Leary LA, Ortiz L, Montgomery A, Fox DJ, Cunniff C, Ruttenber M, Breen A, Pettygrove S, Klumb D, Druschel C, Frías JL, Robinson LK, Bertrand J, Ferrara K, Kelly M, Gilboa SM, Meaney FJ; FASSNetII.

Birth Defects Res A Clin Mol Teratol. 2015 Mar;103(3):196-202. doi: 10.1002/bdra.23335. Epub 2015 Mar 12.

29.

Prevalence of Duchenne and Becker muscular dystrophies in the United States.

Romitti PA, Zhu Y, Puzhankara S, James KA, Nabukera SK, Zamba GK, Ciafaloni E, Cunniff C, Druschel CM, Mathews KD, Matthews DJ, Meaney FJ, Andrews JG, Conway KM, Fox DJ, Street N, Adams MM, Bolen J; MD STARnet.

Pediatrics. 2015 Mar;135(3):513-21. doi: 10.1542/peds.2014-2044. Epub 2015 Feb 16. Erratum in: Pediatrics. 2015 May;135(5):945.

30.

Fetal alcohol syndrome among children aged 7-9 years - Arizona, Colorado, and New York, 2010.

Fox DJ, Pettygrove S, Cunniff C, O'Leary LA, Gilboa SM, Bertrand J, Druschel CM, Breen A, Robinson L, Ortiz L, Frías JL, Ruttenber M, Klumb D, Meaney FJ; Centers for Disease Control and Prevention (CDC).

MMWR Morb Mortal Wkly Rep. 2015 Jan 30;64(3):54-7.

31.

Risk Factors for First Fractures Among Males With Duchenne or Becker Muscular Dystrophy.

James KA, Cunniff C, Apkon SD, Mathews K, Lu Z, Holtzer C, Pandya S, Ciafaloni E, Miller L.

J Pediatr Orthop. 2015 Sep;35(6):640-4. doi: 10.1097/BPO.0000000000000348.

PMID:
25379822
32.

Diagnostic and clinical characteristics of early-manifesting females with Duchenne or Becker muscular dystrophy.

Imbornoni L, Price ET, Andrews J, Meaney FJ, Ciafaloni E, Cunniff C.

Am J Med Genet A. 2014 Nov;164A(11):2769-74. doi: 10.1002/ajmg.a.36728. Epub 2014 Aug 14.

PMID:
25125379
33.

Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome.

Gordon CT, Cunniff CM, Green GE, Zechi-Ceide RM, Johnson JM, Henderson A, Petit F, Kokitsu-Nakata NM, Guion-Almeida ML, Munnich A, Cunningham ML, Lyonnet S, Amiel J.

Am J Med Genet A. 2014 Jul;164A(7):1850-3. doi: 10.1002/ajmg.a.36505. Epub 2014 Mar 26. No abstract available.

PMID:
24677549
34.

Potential impact of DSM-5 criteria on autism spectrum disorder prevalence estimates.

Maenner MJ, Rice CE, Arneson CL, Cunniff C, Schieve LA, Carpenter LA, Van Naarden Braun K, Kirby RS, Bakian AV, Durkin MS.

JAMA Psychiatry. 2014 Mar;71(3):292-300. doi: 10.1001/jamapsychiatry.2013.3893.

35.

Sibling concordance for clinical features of Duchenne and Becker muscular dystrophies.

Pettygrove S, Lu Z, Andrews JG, Meaney FJ, Sheehan DW, Price ET, Fox DJ, Pandya S, Ouyang L, Apkon SD, Powis Z, Cunniff C.

Muscle Nerve. 2014 Jun;49(6):814-21. doi: 10.1002/mus.24078.

36.

Oral corticosteroids and onset of cardiomyopathy in Duchenne muscular dystrophy.

Barber BJ, Andrews JG, Lu Z, West NA, Meaney FJ, Price ET, Gray A, Sheehan DW, Pandya S, Yang M, Cunniff C.

J Pediatr. 2013 Oct;163(4):1080-4.e1. doi: 10.1016/j.jpeds.2013.05.060. Epub 2013 Jul 15.

PMID:
23866715
37.

Frequency and pattern of documented diagnostic features and the age of autism identification.

Maenner MJ, Schieve LA, Rice CE, Cunniff C, Giarelli E, Kirby RS, Lee LC, Nicholas JS, Wingate MS, Durkin MS.

J Am Acad Child Adolesc Psychiatry. 2013 Apr;52(4):401-413.e8. doi: 10.1016/j.jaac.2013.01.014.

38.

Parental perspectives on the diagnostic process for Duchenne and Becker muscular dystrophy.

Daack-Hirsch S, Holtzer C, Cunniff C.

Am J Med Genet A. 2013 Apr;161A(4):687-95. doi: 10.1002/ajmg.a.35810. Epub 2013 Mar 12.

PMID:
23494880
39.

Reproductive patterns among mothers of males diagnosed with Duchenne or Becker muscular dystrophy.

Nabukera SK, Romitti PA, Caspers KM, Street N, Cunniff C, Mathews KD, Fox DJ, Puzhankara S, Ciafaloni E, James KA, Su Y; MD STARnet.

Am J Med Genet A. 2013 Jan;161A(1):70-5. doi: 10.1002/ajmg.a.35682. Epub 2012 Dec 13.

40.

Smith-Lemli-Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction.

Nowaczyk MJ, Cunniff C.

Am J Med Genet C Semin Med Genet. 2012 Nov 15;160C(4):239-41. doi: 10.1002/ajmg.c.31344. Epub 2012 Oct 5.

PMID:
23042602
41.

Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.

Tully HM, Dempsey JC, Ishak GE, Adam MP, Curry CJ, Sanchez-Lara P, Hunter A, Gripp KW, Allanson J, Cunniff C, Glass I, Millen KJ, Doherty D, Dobyns WB.

Am J Med Genet A. 2012 Oct;158A(10):2393-406. doi: 10.1002/ajmg.a.35561. Epub 2012 Sep 10.

42.

A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.

Rieder MJ, Green GE, Park SS, Stamper BD, Gordon CT, Johnson JM, Cunniff CM, Smith JD, Emery SB, Lyonnet S, Amiel J, Holder M, Heggie AA, Bamshad MJ, Nickerson DA, Cox TC, Hing AV, Horst JA, Cunningham ML.

Am J Hum Genet. 2012 May 4;90(5):907-14. doi: 10.1016/j.ajhg.2012.04.002. Erratum in: Am J Hum Genet. 2012 Aug 10;91(2):397. Am J Hum Genet. 2012 Jun 8;90(6):1116.

43.

Maternal smoking during pregnancy and the prevalence of autism spectrum disorders, using data from the autism and developmental disabilities monitoring network.

Kalkbrenner AE, Braun JM, Durkin MS, Maenner MJ, Cunniff C, Lee LC, Pettygrove S, Nicholas JS, Daniels JL.

Environ Health Perspect. 2012 Jul;120(7):1042-8. doi: 10.1289/ehp.1104556. Epub 2012 Apr 25.

44.

Prevalence of autism spectrum disorders in Hispanic and non-Hispanic white children.

Pedersen A, Pettygrove S, Meaney FJ, Mancilla K, Gotschall K, Kessler DB, Grebe TA, Cunniff C.

Pediatrics. 2012 Mar;129(3):e629-35. doi: 10.1542/peds.2011-1145. Epub 2012 Feb 20.

PMID:
22351889
45.

Use of complementary and alternative medicine by males with Duchenne or Becker muscular dystrophy.

Nabukera SK, Romitti PA, Campbell KA, Meaney FJ, Caspers KM, Mathews KD, Sherlock SM, Puzhankara S, Cunniff C, Druschel CM, Pandya S, Matthews DJ, Ciafaloni E; MD STARnet.

J Child Neurol. 2012 Jun;27(6):734-40. doi: 10.1177/0883073811426501. Epub 2011 Dec 7.

46.

Disparities in the diagnostic process of Duchenne and Becker muscular dystrophy.

Holtzer C, Meaney FJ, Andrews J, Ciafaloni E, Fox DJ, James KA, Lu Z, Miller L, Pandya S, Ouyang L, Cunniff C.

Genet Med. 2011 Nov;13(11):942-7. doi: 10.1097/GIM.0b013e31822623f1.

PMID:
21836521
47.

Palliative care services in families of males with Duchenne muscular dystrophy.

Arias R, Andrews J, Pandya S, Pettit K, Trout C, Apkon S, Karwoski J, Cunniff C, Matthews D, Miller T, Davis MF, Meaney FJ.

Muscle Nerve. 2011 Jul;44(1):93-101. doi: 10.1002/mus.22005.

PMID:
21674523
48.

Risk for cognitive deficit in a population-based sample of U.S. children with autism spectrum disorders: variation by perinatal health factors.

Schieve LA, Baio J, Rice CE, Durkin M, Kirby RS, Drews-Botsch C, Miller LA, Nicholas JS, Cunniff CM.

Disabil Health J. 2010 Jul;3(3):202-12. doi: 10.1016/j.dhjo.2009.12.001. Epub 2010 Mar 2.

PMID:
21122785
49.

Changes in autism spectrum disorder prevalence in 4 areas of the United States.

Rice C, Nicholas J, Baio J, Pettygrove S, Lee LC, Van Naarden Braun K, Doernberg N, Cunniff C, Newschaffer C, Meaney FJ, Charles J, Washington A, King L, Kolotos M, Mancilla K, Mervis CA, Carpenter L, Yeargin-Allsopp M.

Disabil Health J. 2010 Jul;3(3):186-201. doi: 10.1016/j.dhjo.2009.10.008. Epub 2010 Jan 4.

PMID:
21122784
50.

Prenatal genetic screening and diagnosis for pediatricians.

Cunniff C, Hudgins L.

Curr Opin Pediatr. 2010 Dec;22(6):809-13. doi: 10.1097/MOP.0b013e32833f5f6e. Review.

PMID:
20829690

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