Saul RA - Search Results

1

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. Rasmussen SA, et al. Among authors: saul ra. J Med Genet. 1998 Jun;35(6):468-71. doi: 10.1136/jmg.35.6.468. J Med Genet. 1998. PMID: 9643287 Free PMC article.

2

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. Stewart DR, et al. Among authors: saul ra. Genet Med. 2014 Jun;16(6):448-59. doi: 10.1038/gim.2013.163. Epub 2013 Nov 14. Genet Med. 2014. PMID: 24232412 Free article.

3

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. Schwartz CE, et al. Among authors: saul ra. Am J Med Genet. 1988 May-Jun;30(1-2):641-54. doi: 10.1002/ajmg.1320300165. Am J Med Genet. 1988. PMID: 3177476

4

Fragile X syndrome detection in newborns-pilot study.

Saul RA, Friez M, Eaves K, Stapleton GA, Collins JS, Schwartz CE, Stevenson RE. Saul RA, et al. Genet Med. 2008 Oct;10(10):714-9. doi: 10.1097/GIM.0b013e3181862a76. Genet Med. 2008. PMID: 18813135 Free article.

5

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. Schwartz CE, et al. Among authors: saul ra. EXS. 1991;58:95-105. doi: 10.1007/978-3-0348-7312-3_7. EXS. 1991. PMID: 1831169

6

A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation.

Boccuto L, Aoki K, Flanagan-Steet H, Chen CF, Fan X, Bartel F, Petukh M, Pittman A, Saul R, Chaubey A, Alexov E, Tiemeyer M, Steet R, Schwartz CE. Boccuto L, et al. Hum Mol Genet. 2014 Jan 15;23(2):418-33. doi: 10.1093/hmg/ddt434. Epub 2013 Sep 10. Hum Mol Genet. 2014. PMID: 24026681 Free PMC article.

7

22q13 deletion syndrome.

Phelan MC, Rogers RC, Saul RA, Stapleton GA, Sweet K, McDermid H, Shaw SR, Claytor J, Willis J, Kelly DP. Phelan MC, et al. Among authors: saul ra. Am J Med Genet. 2001 Jun 15;101(2):91-9. doi: 10.1002/1096-8628(20010615)101:2<91::aid-ajmg1340>3.0.co;2-c. Am J Med Genet. 2001. PMID: 11391650

8

Summary of the Association of Professors of Human and Medical Genetics Fourth Annual Workshop.

Desnick RJ, Korf B, Blitzer MG, Saul R. Desnick RJ, et al. Am J Med Genet. 2000 Jan 17;90(2):169-72. doi: 10.1002/(sici)1096-8628(20000117)90:2<169::aid-ajmg16>3.0.co;2-9. Am J Med Genet. 2000. PMID: 10607959 No abstract available.

9

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

Saul RA. Saul RA. Am J Med Genet. 1985 Jul;21(3):491-2. doi: 10.1002/ajmg.1320210311. Am J Med Genet. 1985. PMID: 3927727 No abstract available.

10

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

Saul RA, Wilson WG. Saul RA, et al. Am J Med Genet A. 2019 Feb;179(2):159-160. doi: 10.1002/ajmg.a.8. Epub 2018 Dec 13. Am J Med Genet A. 2019. PMID: 30548960 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

55 results

Search Page

Filters