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Items: 1 to 50 of 60

1.

Relationship of Weight Outcomes, Co-Occurring Conditions, and Severity of Autism Spectrum Disorder in the Study to Explore Early Development.

Levy SE, Pinto-Martin JA, Bradley CB, Chittams J, Johnson SL, Pandey J, Pomykacz A, Ramirez A, Reynolds A, Rubenstein E, Schieve LA, Shapira SK, Thompson A, Young L, Kral TVE.

J Pediatr. 2018 Oct 9. pii: S0022-3476(18)31263-0. doi: 10.1016/j.jpeds.2018.09.003. [Epub ahead of print]

PMID:
30314662
2.

Identification of Primary Congenital Hypothyroidism Based on Two Newborn Screens - Utah, 2010-2016.

Jones DE, Hart K, Shapira SK, Murray M, Atkinson-Dunn R, Rohrwasser A.

MMWR Morb Mortal Wkly Rep. 2018 Jul 20;67(28):782-785. doi: 10.15585/mmwr.mm6728a4.

3.

ADHD Medication Use During Pregnancy and Risk for Selected Birth Defects: National Birth Defects Prevention Study, 1998-2011.

Anderson KN, Dutton AC, Broussard CS, Farr SL, Lind JN, Visser SN, Ailes EC, Shapira SK, Reefhuis J, Tinker SC; National Birth Defects Prevention Study (NBDPS).

J Atten Disord. 2018 Mar 1:1087054718759753. doi: 10.1177/1087054718759753. [Epub ahead of print]

PMID:
29519207
4.

Invited Commentary: Male Reproductive System Congenital Malformations and the Risk of Autism Spectrum Disorder.

Schieve LA, Shapira SK.

Am J Epidemiol. 2018 Apr 1;187(4):664-667. doi: 10.1093/aje/kwx369.

PMID:
29452336
5.

Associations Between the 2nd to 4th Digit Ratio and Autism Spectrum Disorder in Population-Based Samples of Boys and Girls: Findings from the Study to Explore Early Development.

Schieve LA, Tian L, Dowling N, Croen L, Hoover-Fong J, Alexander A, Shapira SK.

J Autism Dev Disord. 2018 Jul;48(7):2379-2395. doi: 10.1007/s10803-018-3495-z.

PMID:
29450837
6.

Primary Care Provider Management of Congenital Hypothyroidism Identified Through Newborn Screening.

Rosenthal NA, Bezar E, Mann S, Bachrach LK, Banerjee S, Geffner ME, Gottschalk M, Shapira SK, Hasegawa L, Feuchtbaum L.

Ann Thyroid Res. 2017;3(1):95-101. Epub 2017 Apr 18.

7.

CDC Grand Rounds: Newborn Screening for Hearing Loss and Critical Congenital Heart Disease.

Grosse SD, Riehle-Colarusso T, Gaffney M, Mason CA, Shapira SK, Sontag MK, Braun KVN, Iskander J.

MMWR Morb Mortal Wkly Rep. 2017 Aug 25;66(33):888-890. doi: 10.15585/mmwr.mm6633a4.

8.

Survival Disparities Associated with Congenital Diaphragmatic Hernia.

Hinton CF, Siffel C, Correa A, Shapira SK.

Birth Defects Res. 2017 Jul 3;109(11):816-823. doi: 10.1002/bdr2.1015. Epub 2017 Apr 10.

9.

Treated Prevalence of Attention-Deficit/Hyperactivity Disorder Increased from 2009 to 2015 Among School-Aged Children and Adolescents in the United States.

Nyarko KA, Grosse SD, Danielson ML, Holbrook JR, Visser SN, Shapira SK.

J Child Adolesc Psychopharmacol. 2017 Oct;27(8):731-734. doi: 10.1089/cap.2016.0196. Epub 2017 Mar 22.

10.

Congenital adrenal hyperplasia cases identified by newborn screening in one- and two-screen states.

Held PK, Shapira SK, Hinton CF, Jones E, Hannon WH, Ojodu J.

Mol Genet Metab. 2015 Nov;116(3):133-8. doi: 10.1016/j.ymgme.2015.08.004. Epub 2015 Aug 12.

11.

Single newborn screen or routine second screening for primary congenital hypothyroidism.

Shapira SK, Hinton CF, Held PK, Jones E, Harry Hannon W, Ojodu J.

Mol Genet Metab. 2015 Nov;116(3):125-32. doi: 10.1016/j.ymgme.2015.08.003. Epub 2015 Aug 11.

12.

What we don't know can hurt us: Nonresponse bias assessment in birth defects research.

Strassle PD, Cassell CH, Shapira SK, Tinker SC, Meyer RE, Grosse SD.

Birth Defects Res A Clin Mol Teratol. 2015 Jul;103(7):603-9. doi: 10.1002/bdra.23408. Epub 2015 Jul 14.

13.

The National Birth Defects Prevention Study: A review of the methods.

Reefhuis J, Gilboa SM, Anderka M, Browne ML, Feldkamp ML, Hobbs CA, Jenkins MM, Langlois PH, Newsome KB, Olshan AF, Romitti PA, Shapira SK, Shaw GM, Tinker SC, Honein MA; National Birth Defects Prevention Study.

Birth Defects Res A Clin Mol Teratol. 2015 Aug;103(8):656-69. doi: 10.1002/bdra.23384. Epub 2015 Jun 2. Review.

14.

Rationale for periodic reporting on the use of selected clinical preventive services to improve the health of infants, children, and adolescents--United States.

Yeung LF, Shapira SK, Coates RJ, Shaw FE, Moore CA, Boyle CA, Thacker SB; Centers for Disease Control and Prevention (CDC).

MMWR Suppl. 2014 Sep 12;63(2):3-13.

PMID:
25208252
15.

Expanding diagnostic testing beyond cytogenetics: implications for birth defects research and surveillance.

Jackson JM, Druschel CM, Shapira SK.

Birth Defects Res A Clin Mol Teratol. 2013 Nov;97(11):726-9. doi: 10.1002/bdra.23195. Epub 2013 Nov 6. No abstract available.

16.

Paternal occupation and birth defects: findings from the National Birth Defects Prevention Study.

Desrosiers TA, Herring AH, Shapira SK, Hooiveld M, Luben TJ, Herdt-Losavio ML, Lin S, Olshan AF; National Birth Defects Prevention Study.

Occup Environ Med. 2012 Aug;69(8):534-42. doi: 10.1136/oemed-2011-100372. Epub 2012 Jul 9.

17.

The Study to Explore Early Development (SEED): a multisite epidemiologic study of autism by the Centers for Autism and Developmental Disabilities Research and Epidemiology (CADDRE) network.

Schendel DE, Diguiseppi C, Croen LA, Fallin MD, Reed PL, Schieve LA, Wiggins LD, Daniels J, Grether J, Levy SE, Miller L, Newschaffer C, Pinto-Martin J, Robinson C, Windham GC, Alexander A, Aylsworth AS, Bernal P, Bonner JD, Blaskey L, Bradley C, Collins J, Ferretti CJ, Farzadegan H, Giarelli E, Harvey M, Hepburn S, Herr M, Kaparich K, Landa R, Lee LC, Levenseller B, Meyerer S, Rahbar MH, Ratchford A, Reynolds A, Rosenberg S, Rusyniak J, Shapira SK, Smith K, Souders M, Thompson PA, Young L, Yeargin-Allsopp M.

J Autism Dev Disord. 2012 Oct;42(10):2121-40.

18.

Birth prevalence rates of newborn screening disorders in relation to screening practices in the United States.

Hertzberg VS, Hinton CF, Therrell BL, Shapira SK.

J Pediatr. 2011 Oct;159(4):555-60. doi: 10.1016/j.jpeds.2011.04.011. Epub 2011 Jun 8.

PMID:
21641615
19.

Evaluation of immunization rates and safety among children with inborn errors of metabolism.

Klein NP, Aukes L, Lee J, Fireman B, Shapira SK, Slade B, Baxter R, Summar M.

Pediatrics. 2011 May;127(5):e1139-46. doi: 10.1542/peds.2010-3706. Epub 2011 Apr 11.

PMID:
21482602
20.

Letter to the editor: Ventricular septal defects and the National Birth Defects Prevention Study.

Rasmussen SA, Riehle-Colarusso T, Shapira SK, Honein MA, Reefhuis J; National Birth Defects Prevention Study.

Birth Defects Res A Clin Mol Teratol. 2011 Jan;91(1):66. doi: 10.1002/bdra.20750. Epub 2010 Dec 7. No abstract available.

PMID:
21254361
21.

Use of special education services among children with and without congenital gastrointestinal anomalies.

Hamrick SE, Strickland MJ, Shapira SK, Autry A, Schendel D.

Am J Intellect Dev Disabil. 2010 Sep;115(5):421-32. doi: 10.1352/1944-7558-115-5.421.

PMID:
20687825
22.

Future research directions to identify causes of the increasing incidence rate of congenital hypothyroidism in the United States.

Shapira SK, Lloyd-Puryear MA, Boyle C.

Pediatrics. 2010 May;125 Suppl 2:S64-8. doi: 10.1542/peds.2009-1975G.

PMID:
20435719
23.

Association of paternal age and risk for major congenital anomalies from the National Birth Defects Prevention Study, 1997 to 2004.

Green RF, Devine O, Crider KS, Olney RS, Archer N, Olshan AF, Shapira SK; National Birth Defects Prevention Study.

Ann Epidemiol. 2010 Mar;20(3):241-9. doi: 10.1016/j.annepidem.2009.10.009. Epub 2010 Jan 6.

24.

Prevalence of developmental disabilities and receipt of special education services among children with an inborn error of metabolism.

Powell K, Van Naarden Braun K, Singh R, Shapira SK, Olney RS, Yeargin-Allsopp M.

J Pediatr. 2010 Mar;156(3):420-6. doi: 10.1016/j.jpeds.2009.09.068. Epub 2009 Nov 14.

PMID:
19914633
25.

Long-term speech and language developmental issues among children with Duarte galactosemia.

Powell KK, Van Naarden Braun K, Singh RH, Shapira SK, Olney RS, Yeargin-Allsopp M.

Genet Med. 2009 Dec;11(12):874-9. doi: 10.1097/GIM.0b013e3181c0c38d.

PMID:
19904210
26.

Maternal vasoactive exposures, amniotic bands, and terminal transverse limb defects.

Werler MM, Bosco JL, Shapira SK; National Birth Defects Prevention Study.

Birth Defects Res A Clin Mol Teratol. 2009 Jan;85(1):52-7. doi: 10.1002/bdra.20524.

27.

Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease.

van Capelle CI, Winkel LP, Hagemans ML, Shapira SK, Arts WF, van Doorn PA, Hop WC, Reuser AJ, van der Ploeg AT.

Neuromuscul Disord. 2008 Jun;18(6):447-52. doi: 10.1016/j.nmd.2008.04.009. Epub 2008 May 27.

PMID:
18508267
28.

Genetic risks to the mother and the infant: assessment, counseling, and management.

Shapira SK, Dolan S.

Matern Child Health J. 2006 Sep;10(5 Suppl):S143-6. No abstract available.

29.

Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up.

Winkel LP, Van den Hout JM, Kamphoven JH, Disseldorp JA, Remmerswaal M, Arts WF, Loonen MC, Vulto AG, Van Doorn PA, De Jong G, Hop W, Smit GP, Shapira SK, Boer MA, van Diggelen OP, Reuser AJ, Van der Ploeg AT.

Ann Neurol. 2004 Apr;55(4):495-502.

PMID:
15048888
30.

Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome.

Heilstedt HA, Ballif BC, Howard LA, Lewis RA, Stal S, Kashork CD, Bacino CA, Shapira SK, Shaffer LG.

Am J Hum Genet. 2003 May;72(5):1200-12. Epub 2003 Apr 8.

31.

Familial complex chromosomal rearrangement resulting in a recombinant chromosome.

Berend SA, Bodamer OA, Shapira SK, Shaffer LG, Bacino CA.

Am J Med Genet. 2002 May 15;109(4):311-7.

PMID:
11992486
32.

Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome.

Heilstedt HA, Burgess DL, Anderson AE, Chedrawi A, Tharp B, Lee O, Kashork CD, Starkey DE, Wu YQ, Noebels JL, Shaffer LG, Shapira SK.

Epilepsia. 2001 Sep;42(9):1103-11.

33.

Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria.

Scaglia F, Sutton VR, Bodamer OA, Vogel H, Shapira SK, Naviaux RK, Vladutiu GD.

J Child Neurol. 2001 Feb;16(2):136-8.

PMID:
11292221
34.

A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).

Zonana J, Elder ME, Schneider LC, Orlow SJ, Moss C, Golabi M, Shapira SK, Farndon PA, Wara DW, Emmal SA, Ferguson BM.

Am J Hum Genet. 2000 Dec;67(6):1555-62. Epub 2000 Oct 24.

35.

Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis.

Heilstedt HA, Shapira SK, Gregg AR, Shaffer LG.

Clin Genet. 1999 Aug;56(2):123-8. Review.

PMID:
10517248
36.

Monosomy 1p36.

Slavotinek A, Shaffer LG, Shapira SK.

J Med Genet. 1999 Sep;36(9):657-63. Review.

37.

Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome.

Abou-Zahr F, Bejjani B, Kruyt FA, Kurg R, Bacino C, Shapira SK, Youssoufian H.

Am J Med Genet. 1999 Apr 23;83(5):388-91.

PMID:
10232749
38.

DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.

Potocki L, Chen KS, Koeuth T, Killian J, Iannaccone ST, Shapira SK, Kashork CD, Spikes AS, Shaffer LG, Lupski JR.

Am J Hum Genet. 1999 Feb;64(2):471-8.

39.

Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions.

Wu YQ, Heilstedt HA, Bedell JA, May KM, Starkey DE, McPherson JD, Shapira SK, Shaffer LG.

Hum Mol Genet. 1999 Feb;8(2):313-21.

PMID:
9931339
40.

Inherited duplication Xq27-qter at Xp22.3 in severely affected males: molecular cytogenetic evaluation and clinical description in three unrelated families.

Goodman BK, Shaffer LG, Rutberg J, Leppert M, Harum K, Gagos S, Ray JH, Bialer MG, Zhou X, Pletcher BA, Shapira SK, Geraghty MT.

Am J Med Genet. 1998 Dec 4;80(4):377-84.

PMID:
9856567
41.

An update on chromosome deletion and microdeletion syndromes.

Shapira SK.

Curr Opin Pediatr. 1998 Dec;10(6):622-7. Review.

PMID:
9848023
42.

A urea cycle defect presenting as acute cerebellar ataxia in a 3-year-old girl.

Keller C, Shapira SK, Clark GD.

J Child Neurol. 1998 Feb;13(2):93-5. No abstract available.

PMID:
9512312
43.

DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression.

Timms KM, Huckett LE, Belmont JW, Shapira SK, Gibbs RA.

Hum Mutat. 1998;11(2):121-6.

PMID:
9482575
44.

Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome.

Shapira SK, McCaskill C, Northrup H, Spikes AS, Elder FF, Sutton VR, Korenberg JR, Greenberg F, Shaffer LG.

Am J Hum Genet. 1997 Sep;61(3):642-50.

45.

Constitutional mosaicism for a chromosome 9 inversion resulting in recombinant aneusomy in an offspring.

Shapira SK, Orr-Urtreger A, Gagos S, Shaffer LG.

Am J Med Genet. 1997 Apr 14;69(4):360-4. Erratum in: Am J Med Genet 1997 Jul 11;71(1):126.

PMID:
9098483
46.

Molecular basis of phenotypic variation in patients with argininemia.

Uchino T, Snyderman SE, Lambert M, Qureshi IA, Shapira SK, Sansaricq C, Smit LM, Jakobs C, Matsuda I.

Hum Genet. 1995 Sep;96(3):255-60.

PMID:
7649538
47.

Submicroscopic deletions at 22q11.2: variability of the clinical picture and delineation of a commonly deleted region.

Lindsay EA, Greenberg F, Shaffer LG, Shapira SK, Scambler PJ, Baldini A.

Am J Med Genet. 1995 Mar 27;56(2):191-7.

PMID:
7625444
48.

De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations.

Shapira SK, Anderson KL, Orr-Urtregar A, Craigen WJ, Lupski JR, Shaffer LG.

Am J Med Genet. 1994 Aug 1;52(1):44-50.

PMID:
7977460
49.

Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3.

Nesslinger NJ, Gorski JL, Kurczynski TW, Shapira SK, Siegel-Bartelt J, Dumanski JP, Cullen RF Jr, French BN, McDermid HE.

Am J Hum Genet. 1994 Mar;54(3):464-72.

50.

Arginase deficiency presenting as cerebral palsy.

Scheuerle AE, McVie R, Beaudet AL, Shapira SK.

Pediatrics. 1993 May;91(5):995-6. No abstract available.

PMID:
8474825

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