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Items: 1 to 50 of 116

1.

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies.

Korbel JO, Tirosh-Wagner T, Urban AE, Chen XN, Kasowski M, Dai L, Grubert F, Erdman C, Gao MC, Lange K, Sobel EM, Barlow GM, Aylsworth AS, Carpenter NJ, Clark RD, Cohen MY, Doran E, Falik-Zaccai T, Lewin SO, Lott IT, McGillivray BC, Moeschler JB, Pettenati MJ, Pueschel SM, Rao KW, Shaffer LG, Shohat M, Van Riper AJ, Warburton D, Weissman S, Gerstein MB, Snyder M, Korenberg JR.

Proc Natl Acad Sci U S A. 2009 Jul 21;106(29):12031-6. doi: 10.1073/pnas.0813248106. Epub 2009 Jul 13.

2.

Down syndrome: otolaryngological effects of rapid maxillary expansion.

de Moura CP, Andrade D, Cunha LM, Tavares MJ, Cunha MJ, Vaz P, Barros H, Pueschel SM, Clemente MP.

J Laryngol Otol. 2008 Dec;122(12):1318-24. doi: 10.1017/S002221510800279X. Epub 2008 Jun 25.

PMID:
18577269
3.

Voice parameters in children with Down syndrome.

Moura CP, Cunha LM, Vilarinho H, Cunha MJ, Freitas D, Palha M, Pueschel SM, Pais-Clemente M.

J Voice. 2008 Jan;22(1):34-42. Epub 2006 Oct 2.

PMID:
17014985
4.

The effect of acetyl-L-carnitine administration on persons with Down syndrome.

Pueschel SM.

Res Dev Disabil. 2006 Nov-Dec;27(6):599-604. Epub 2006 Apr 18.

PMID:
16621446
5.

Rapid maxillary expansion and nasal patency in children with Down syndrome.

de Moura CP, Vales F, Andrade D, Cunha LM, Barros H, Pueschel SM, Clemente MP.

Rhinology. 2005 Jun;43(2):138-42.

PMID:
16008071
6.

Novel mutations in the GALK1 gene in patients with galactokinase deficiency.

Hunter M, Angelicheva D, Levy HL, Pueschel SM, Kalaydjieva L.

Hum Mutat. 2001;17(1):77-8.

PMID:
11139256
7.

Towards optimal mental health of persons with Down syndrome.

Pueschel SM.

Downs Syndr Res Pract. 1998;5(1):43-6. Review.

8.

A prevalence study of celiac disease in persons with Down syndrome residing in the United States of America.

Pueschel SM, Romano C, Failla P, Barone C, Pettinato R, Castellano Chiodo A, Plumari DL.

Acta Paediatr. 1999 Sep;88(9):953-6.

PMID:
10519335
9.

Do Olmec figurines resemble children with specific dysmorphology syndromes?

Pueschel SM.

J Hist Med Allied Sci. 1998 Oct;53(4):407-15. No abstract available.

PMID:
9816820
10.

Should children with Down syndrome be screened for atlantoaxial instability?

Pueschel SM.

Arch Pediatr Adolesc Med. 1998 Feb;152(2):123-5.

PMID:
9491036
11.

Cerebrohepatorenal (Zellweger) syndrome: clinical, neuropathological, and biochemical findings.

Pueschel SM, Oyer CE.

Childs Nerv Syst. 1995 Nov;11(11):639-42.

PMID:
8608580
12.

Guidelines for optimal medical care of persons with Down syndrome. International League of Societies for Persons with Mental Handicap (ILSMH).

Pueschel SM, Annerén G, Durlach R, Flores J, Sustrová M, Verma IC.

Acta Paediatr. 1995 Jul;84(7):823-7.

PMID:
7549308
13.

Major depression in a small group of adults with Down syndrome.

Myers BA, Pueschel SM.

Res Dev Disabil. 1995 Jul-Aug;16(4):285-99.

PMID:
7480957
14.

Tardive or atypical Tourette's disorder in a population with Down syndrome?

Myers B, Pueschel SM.

Res Dev Disabil. 1995 Jan-Feb;16(1):1-9.

PMID:
7701088
15.

Posterior occipitoatlantal hypermobility in Down syndrome: an analysis of 199 patients.

Parfenchuck TA, Bertrand SL, Powers MJ, Drvaric DM, Pueschel SM, Roberts JM.

J Pediatr Orthop. 1994 May-Jun;14(3):304-8.

PMID:
8006159
16.

Environmental and temperament assessments of children with Down's syndrome.

Pueschel SM, Myers BA.

J Intellect Disabil Res. 1994 Apr;38 ( Pt 2):195-202.

PMID:
8193455
17.

Mitral valve prolapse in persons with Down syndrome.

Pueschel SM, Werner JC.

Res Dev Disabil. 1994 Mar-Apr;15(2):91-7.

PMID:
8085032
18.

Brief report: a case of schizophrenia in a population with Down syndrome.

Myers BA, Pueschel SM.

J Autism Dev Disord. 1994 Feb;24(1):95-8. No abstract available.

PMID:
8188577
19.

Elevated erythropoietin levels in cord blood of newborns with Down's syndrome.

Widness JA, Pueschel SM, Pezzullo JC, Clemons GK.

Biol Neonate. 1994;66(1):50-5.

PMID:
7948440
20.

Sleep-disordered breathing and behavior in three risk groups: preliminary findings from parental reports.

Carskadon MA, Pueschel SM, Millman RP.

Childs Nerv Syst. 1993 Dec;9(8):452-7.

PMID:
8124671
22.

Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted.

Weksberg R, Teshima I, Williams BR, Greenberg CR, Pueschel SM, Chernos JE, Fowlow SB, Hoyme E, Anderson IJ, Whiteman DA, et al.

Hum Mol Genet. 1993 May;2(5):549-56.

PMID:
8518793
23.

Reflex seizures in Down syndrome.

Pueschel SM, Louis S.

Childs Nerv Syst. 1993 Feb;9(1):23-4.

PMID:
8481939
24.

Lipids and lipoproteins in persons with Down's syndrome.

Pueschel SM, Craig WY, Haddow JE.

J Intellect Disabil Res. 1992 Aug;36 ( Pt 4):365-9.

PMID:
1388078
25.

Computerized tomography in persons with Down syndrome and atlantoaxial instability.

Pueschel SM, Moon AC, Scola FH.

Spine (Phila Pa 1976). 1992 Jul;17(7):735-7.

PMID:
1386942
26.

A longitudinal study of atlanto-dens relationships in asymptomatic individuals with Down syndrome.

Pueschel SM, Scola FH, Pezzullo JC.

Pediatrics. 1992 Jun;89(6 Pt 2):1194-8.

PMID:
1534403
27.

Myoclonic dystonia.

Pueschel SM, Friedman JH, Shetty T.

Childs Nerv Syst. 1992 Mar;8(2):61-6.

PMID:
1591746
28.

Central nervous system and renal investigations in patients with Lowe syndrome.

Pueschel SM, Brem AS, Nittoli P.

Childs Nerv Syst. 1992 Feb;8(1):45-8.

PMID:
1576608
29.

Menstrual cycles and basal body temperature curves in women with Down syndrome.

Scola PS, Pueschel SM.

Obstet Gynecol. 1992 Jan;79(1):91-4.

PMID:
1530775
30.

Head circumference of children with Down syndrome (0-36 months)

Palmer CG, Cronk C, Pueschel SM, Wisniewski KE, Laxova R, Crocker AC, Pauli RM.

Am J Med Genet. 1992 Jan 1;42(1):61-7. Erratum in: Am J Med Genet 1992 Jul 1;43(4):768.

PMID:
1308367
31.

Behavioural observations in children with Down's syndrome.

Pueschel SM, Bernier JC, Pezzullo JC.

J Ment Defic Res. 1991 Dec;35 ( Pt 6):502-11.

PMID:
1839314
32.

Psychiatric disorders in persons with Down syndrome.

Myers BA, Pueschel SM.

J Nerv Ment Dis. 1991 Oct;179(10):609-13.

PMID:
1833506
33.
34.

Seizure disorders in Down syndrome.

Pueschel SM, Louis S, McKnight P.

Arch Neurol. 1991 Mar;48(3):318-20.

PMID:
1825777
35.

The prevalence of hepatitis B surface antigen and antibody in home-reared individuals with Down syndrome.

Pueschel SM, Bodenheimer HC Jr, Giesswein P, Dean MK.

Res Dev Disabil. 1991;12(3):243-9.

PMID:
1838813
36.

Thyroid function in Down syndrome.

Pueschel SM, Jackson IM, Giesswein P, Dean MK, Pezzullo JC.

Res Dev Disabil. 1991;12(3):287-96.

PMID:
1838814
37.

Macrocytosis in Down syndrome.

Wachtel TJ, Pueschel SM.

Am J Ment Retard. 1991 Jan;95(4):417-20.

PMID:
1825915
38.

Skeletal anomalies of the upper cervical spine in children with Down syndrome.

Pueschel SM, Scola FH, Tupper TB, Pezzullo JC.

J Pediatr Orthop. 1990 Sep-Oct;10(5):607-11.

PMID:
2144299
39.

Vitamin A gastrointestinal absorption in persons with Down's syndrome.

Pueschel SM, Hillemeier C, Caldwell M, Senft K, Mevs C, Pezzullo JC.

J Ment Defic Res. 1990 Jun;34 ( Pt 3):269-75. Erratum in: J Ment Defic Res 1992 Feb;36(Pt 1):99.

PMID:
2143232
40.

Identification of haptoglobin alpha-2FF variants in mid-trimester maternal serum as potential markers for Down syndrome.

Myrick JE, Caudill SP, Hubert IL, Robinson MK, Adams MJ Jr, Pueschel SM.

Appl Theor Electrophor. 1990;1(5):233-41.

PMID:
2151560
41.

Clinical aspects of Down syndrome from infancy to adulthood.

Pueschel SM.

Am J Med Genet Suppl. 1990;7:52-6. Review.

PMID:
2149974
42.

Atlantoaxial instability, sport, and Down syndrome.

Pueschel SM.

Lancet. 1989 Feb 25;1(8635):438-9. No abstract available.

PMID:
2563812
43.

Ethical considerations in the life of a child with Down syndrome.

Pueschel SM.

Issues Law Med. 1989 Summer;5(1):87-99. Review. No abstract available.

PMID:
2533587
44.

Studies on experimentally induced hyperphenylalaninemia.

Pueschel SM, Boylan J, Ellenbogen R.

J Ment Defic Res. 1988 Aug;32 ( Pt 4):309-19.

PMID:
2975336
45.

Facial plastic surgery for children with Down syndrome.

Pueschel SM.

Dev Med Child Neurol. 1988 Aug;30(4):540-3. Review. No abstract available.

PMID:
2971586
46.

Infantile sialic acid storage disease associated with renal disease.

Pueschel SM, O'Shea PA, Alroy J, Ambler MW, Dangond F, Daniel PF, Kolodny EH.

Pediatr Neurol. 1988 Jul-Aug;4(4):207-12. Review.

PMID:
3072006
47.

Down syndrome.

Pueschel SM.

Plast Reconstr Surg. 1988 Jul;82(1):200. No abstract available.

PMID:
2967983
48.

Parents' perception of social and sexual functions in adolescents with Down's syndrome.

Pueschel SM, Scola PS.

J Ment Defic Res. 1988 Jun;32 ( Pt 3):215-20.

PMID:
2971115
49.

Atlantoaxial instability and Down syndrome.

Pueschel SM.

Pediatrics. 1988 Jun;81(6):879-80. No abstract available.

PMID:
2966927
50.

Growth charts for children with Down syndrome: 1 month to 18 years of age.

Cronk C, Crocker AC, Pueschel SM, Shea AM, Zackai E, Pickens G, Reed RB.

Pediatrics. 1988 Jan;81(1):102-10.

PMID:
2962062

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