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Items: 47

1.

COMMENTARY-The Saul-Wilson syndrome from its early days until now.

Saul RA, Wilson WG.

Am J Med Genet A. 2019 Feb;179(2):159-160. doi: 10.1002/ajmg.a.8. Epub 2018 Dec 13. No abstract available.

PMID:
30548960
2.

Survey of family history taking and genetic testing in pediatric practice.

Saul RA, Trotter T, Sease K, Tarini B.

J Community Genet. 2017 Apr;8(2):109-115. doi: 10.1007/s12687-016-0291-3. Epub 2017 Jan 7.

3.

Beyond the Genetic Diagnosis: Providing Parents What They Want to Know.

Saul RA, Meredith SH.

Pediatr Rev. 2016 Jul;37(7):269-78. doi: 10.1542/pir.2015-0092.

PMID:
27368358
4.

Molecular diagnostic testing.

Saul RA.

Genet Med. 2015 Sep;17(9):761. doi: 10.1038/gim.2015.115. No abstract available.

PMID:
26331191
5.

Surveying the current landscape of clinical genetics residency training.

Bupp CP, Demmer LA, Saul RA.

Genet Med. 2015 May;17(5):386-90. doi: 10.1038/gim.2014.108. Epub 2014 Sep 18.

PMID:
25232852
6.

Epigenetics and primary care.

Wright R, Saul RA.

Pediatrics. 2013 Dec;132(Suppl 3):S216-23. doi: 10.1542/peds.2013-1032F. Review.

PMID:
24298130
7.

Genetic and genomic literacy in pediatric primary care.

Saul RA.

Pediatrics. 2013 Dec;132(Suppl 3):S198-202. doi: 10.1542/peds.2013-1032C.

PMID:
24298127
8.

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.

Jones GE, Ostergaard P, Moore AT, Connell FC, Williams D, Quarrell O, Brady AF, Spier I, Hazan F, Moldovan O, Wieczorek D, Mikat B, Petit F, Coubes C, Saul RA, Brice G, Gordon K, Jeffery S, Mortimer PS, Vasudevan PC, Mansour S.

Eur J Hum Genet. 2014 Jul;22(7):881-7. doi: 10.1038/ejhg.2013.263. Epub 2013 Nov 27.

9.

Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.

Stewart DR, Brems H, Gomes AG, Ruppert SL, Callens T, Williams J, Claes K, Bober MB, Hachen R, Kaban LB, Li H, Lin A, McDonald M, Melancon S, Ortenberg J, Radtke HB, Samson I, Saul RA, Shen J, Siqveland E, Toler TL, van Maarle M, Wallace M, Williams M, Legius E, Messiaen L.

Genet Med. 2014 Jun;16(6):448-59. doi: 10.1038/gim.2013.163. Epub 2013 Nov 14.

PMID:
24232412
10.

Personalized medicine in primary care: the need for relevance.

Tarini BA, Saul RA.

Per Med. 2013 Aug;10(6):515-517. doi: 10.2217/pme.13.52. No abstract available.

PMID:
29776187
11.

Clinical utility of the X-chromosome array.

Zarate YA, Dwivedi A, Bartel FO, Bellomo MA, Cathey SS, Champaigne NL, Clarkson LK, Dupont BR, Everman DB, Geer JS, Gordon BC, Lichty AW, Lyons MJ, Rogers RC, Saul RA, Schroer RJ, Skinner SA, Stevenson RE.

Am J Med Genet A. 2013 Jan;161A(1):120-30. doi: 10.1002/ajmg.a.35698. Epub 2012 Dec 3.

PMID:
23208842
12.

Improving newborn screening follow-up in pediatric practices: quality improvement innovation network.

Hinton CF, Neuspiel DR, Gubernick RS, Geleske T, Healy J, Kemper AR, Lloyd-Puryear MA, Saul RA, Thompson BH, Kaye CI.

Pediatrics. 2012 Sep;130(3):e669-75. doi: 10.1542/peds.2011-2920. Epub 2012 Aug 6.

PMID:
22869832
13.

Health supervision for children with fragile X syndrome.

Hersh JH, Saul RA; Committee on Genetics.

Pediatrics. 2011 May;127(5):994-1006. doi: 10.1542/peds.2010-3500. Epub 2011 Apr 25. Review.

PMID:
21518720
14.

How best to use CGH arrays in the clinical setting.

Saul RA, Moeschler JB.

Genet Med. 2009 May;11(5):371; author reply 371-2. doi: 10.1097/GIM.0b013e31819dbf9f. No abstract available.

PMID:
19346958
15.

Fragile X syndrome detection in newborns-pilot study.

Saul RA, Friez M, Eaves K, Stapleton GA, Collins JS, Schwartz CE, Stevenson RE.

Genet Med. 2008 Oct;10(10):714-9. doi: 10.1097/GIM.0b013e3181862a76.

PMID:
18813135
16.

Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities.

Griggs BL, Ladd S, Saul RA, DuPont BR, Srivastava AK.

Genomics. 2008 Feb;91(2):195-202. Epub 2007 Dec 3.

17.

Cancer epidemiology and outcomes for the State of South Carolina.

Lebel RR, Saul RA.

J S C Med Assoc. 2007 Feb;103(1):18. No abstract available.

PMID:
17763823
18.

Shoulder response characteristics and injury due to lateral glenohumeral joint impacts.

Bolte JH 4th, Hines MH, McFadden JD, Saul RA.

Stapp Car Crash J. 2000 Nov;44:261-80.

PMID:
17458731
19.

Columbine High School--April 20, 1999. What can I do to help my own community?

Saul RA.

J S C Med Assoc. 2005 Feb;101(2):35-7. Review. No abstract available.

PMID:
16008240
20.

Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia.

Saul RA, Proud V, Taylor HA, Leroy JG, Spranger J.

Am J Med Genet A. 2005 Jun 15;135(3):328-32.

PMID:
15887289
21.

POMGnT1 gene alterations in a family with neurological abnormalities.

Vervoort VS, Holden KR, Ukadike KC, Collins JS, Saul RA, Srivastava AK.

Ann Neurol. 2004 Jul;56(1):143-8.

PMID:
15236414
22.

Is Jaffe-Campanacci syndrome just a manifestation of neurofibromatosis type 1?

Colby RS, Saul RA.

Am J Med Genet A. 2003 Nov 15;123A(1):60-3.

PMID:
14556247
23.

22q13 deletion syndrome.

Phelan MC, Rogers RC, Saul RA, Stapleton GA, Sweet K, McDermid H, Shaw SR, Claytor J, Willis J, Kelly DP.

Am J Med Genet. 2001 Jun 15;101(2):91-9.

PMID:
11391650
24.

Down syndrome clinic in a semi-rural setting.

Lovell CM, Saul RA.

Am J Med Genet. 1999 Jun 25;89(2):91-5.

PMID:
10559763
25.

Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.

Rasmussen SA, Colman SD, Ho VT, Abernathy CR, Arn PH, Weiss L, Schwartz C, Saul RA, Wallace MR.

J Med Genet. 1998 Jun;35(6):468-71.

26.

Prenatal diagnosis of mosaic 4p- in a fetus with trisomy 21.

Phelan MC, Saul RA, Gailey TA Jr, Skinner SA.

Prenat Diagn. 1995 Mar;15(3):274-7.

PMID:
7784386
27.

Brachmann-de Lange syndrome: diagnostic difficulties posed by the mild phenotype.

Saul RA, Rogers RC, Phelan MC, Stevenson RE.

Am J Med Genet. 1993 Nov 15;47(7):999-1002.

PMID:
8291544
28.

Molecular genetic advances in fragile X syndrome.

Tarleton JC, Saul RA.

J Pediatr. 1993 Feb;122(2):169-85. Review.

PMID:
8429429
29.

First impressions! The power of language in the health care setting.

Temple JS, Saul RA, Calvin RL.

J Natl Black Nurses Assoc. 1993 Spring-Summer;6(2):27-32.

PMID:
8106872
30.

Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion.

Phelan MC, Thomas GR, Saul RA, Rogers RC, Taylor HA, Wenger DA, McDermid HE.

Am J Med Genet. 1992 Jul 15;43(5):872-6.

PMID:
1353666
31.

Disseminated Nocardia transvalensis infection: an unusual opportunistic pathogen in severely immunocompromised patients.

McNeil MM, Brown JM, Magruder CH, Shearlock KT, Saul RA, Allred DP, Ajello L.

J Infect Dis. 1992 Jan;165(1):175-8.

PMID:
1727888
32.

DNA fingerprinting: the utilization of minisatellite probes to detect a somatic mutation in the proteus syndrome.

Schwartz CE, Brown AM, Der Kaloustian VM, McGill JJ, Saul RA.

EXS. 1991;58:95-105.

PMID:
1831169
33.

A "new" skeletal dysplasia in two unrelated boys.

Saul RA, Wilson WG.

Am J Med Genet. 1990 Mar;35(3):388-93.

PMID:
2309787
34.

Gastric outlet obstruction in chronic granulomatous disease.

Saul RA.

J Pediatr. 1989 Mar;114(3):505. No abstract available.

PMID:
2921700
35.

Fragile X syndrome: incidence, clinical and cytogenetic findings in the black and white populations of South Carolina.

Schwartz CE, Phelan MC, Pulliam LH, Wilkes G, Vanner LV, Albiez KL, Potts WA, Rogers RC, Schroer RJ, Saul RA, et al.

Am J Med Genet. 1988 May-Jun;30(1-2):641-54.

PMID:
3177476
36.

Noonan syndrome in a patient with hyperplasia of the myenteric plexuses and neurofibromatosis.

Saul RA.

Am J Med Genet. 1985 Jul;21(3):491-2. No abstract available.

PMID:
3927727
37.

Transport media for tissue specimens: a comparative study.

Potts WE, Saul RA, Riley SE, Stevenson RE, Taylor HA.

Am J Med Genet. 1983 Jul;15(3):507-10. No abstract available.

PMID:
6881217
38.

Fragile X syndrome in South Carolina.

Saul RA, Stevenson RE, Simensen RJ, Wilkes G, Alexander W, Taylor H.

J S C Med Assoc. 1982 Sep;78(9):475-7. No abstract available.

PMID:
6958922
39.

Hyperplasia of the myenteric plexus. Its association with early infantile megacolon and neurofibromatosis.

Saul RA, Sturner RA, Burger PC.

Am J Dis Child. 1982 Sep;136(9):852-4.

PMID:
6810692
40.

Mental retardation in the Bannayan syndrome.

Saul RA, Stevenson RE, Bley R.

Pediatrics. 1982 May;69(5):642-4. No abstract available.

PMID:
7079023
41.

Caffey's disease revisited. Further evidence for autosomal dominant inheritance with incomplete penetrance.

Saul RA, Lee WH, Stevenson RE.

Am J Dis Child. 1982 Jan;136(1):55-60.

PMID:
7034524
42.

Myositis with staphylococcal infections.

Saul RA, Osofsky SG.

J Pediatr. 1980 Oct;97(4):701-2. No abstract available.

PMID:
7420240
43.

Amniocentesis and prenatal diagnosis in South Carolina: a collaborative report for the years 1976 to 1979.

Saul RA, Riley S, Jorgenson R, Rogers JF, Young SR, Hixson ET.

J S C Med Assoc. 1980 Aug;76(8):387-90. No abstract available.

PMID:
6931942
44.

Rhabdomyolysis in a patient with nonoliguric renal failure: similarities to the toxic-shock syndrome.

Saul RA, Vernon M, Roe C, Osofsky SG.

South Med J. 1980 Feb;73(2):261-3.

PMID:
7355336
45.

Deterioration of high-moisture corn.

McMahon ME, Hartman PA, Saul RA, Tiffany LH.

Appl Microbiol. 1975 Jul;30(1):103-9.

46.

Lactobacilli in ensiled high-moisture corn.

Hesser JM, Hartman PA, Saul RA.

Appl Microbiol. 1967 Jan;15(1):49-54.

47.

Microbiology of ensiled high-moisture corn.

Burmeister HR, Hartman PA, Saul RA.

Appl Microbiol. 1966 Jan;14(1):31-4.

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