Dasouki M - Search Results

1

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.

Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM Jr, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Eng C, et al. Marsh DJ, et al. Among authors: dasouki m. Hum Mol Genet. 1999 Aug;8(8):1461-72. doi: 10.1093/hmg/8.8.1461. Hum Mol Genet. 1999. PMID: 10400993

2

Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.

Zhou XP, Waite KA, Pilarski R, Hampel H, Fernandez MJ, Bos C, Dasouki M, Feldman GL, Greenberg LA, Ivanovich J, Matloff E, Patterson A, Pierpont ME, Russo D, Nassif NT, Eng C. Zhou XP, et al. Among authors: dasouki m. Am J Hum Genet. 2003 Aug;73(2):404-11. doi: 10.1086/377109. Epub 2003 Jul 3. Am J Hum Genet. 2003. PMID: 12844284 Free PMC article.

3

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.

Butler MG, Dasouki MJ, Zhou XP, Talebizadeh Z, Brown M, Takahashi TN, Miles JH, Wang CH, Stratton R, Pilarski R, Eng C. Butler MG, et al. Among authors: dasouki mj. J Med Genet. 2005 Apr;42(4):318-21. doi: 10.1136/jmg.2004.024646. J Med Genet. 2005. PMID: 15805158 Free PMC article.

4

Five new subjects with ring chromosome 22.

Ishmael HA, Cataldi D, Begleiter ML, Pasztor LM, Dasouki MJ, Butler MG. Ishmael HA, et al. Among authors: dasouki mj. Clin Genet. 2003 May;63(5):410-4. doi: 10.1034/j.1399-0004.2003.00064.x. Clin Genet. 2003. PMID: 12752574 Free PMC article.

5

Gene symbol: ARX. Disease: Mental retardation.

Dasouki M, Friez MJ. Dasouki M, et al. Hum Genet. 2008 Jun;123(5):549. Hum Genet. 2008. PMID: 20960639 No abstract available.

6

Lack of chromosome 15q11-q13 region involvement in a family with Cowden disease/Bannayan-Zonana syndrome.

Dasouki MJ, Marney A, Butler MG. Dasouki MJ, et al. J Gastroenterol. 1998 Dec;33(6):928-9. doi: 10.1007/s005350050207. J Gastroenterol. 1998. PMID: 9853579 Free PMC article. Review. No abstract available.

7

DiGeorge anomaly and chromosome 10p deletions: one or two loci?

Dasouki M, Jurecic V, Phillips JA 3rd, Whitlock JA, Baldini A. Dasouki M, et al. Am J Med Genet. 1997 Nov 28;73(1):72-5. Am J Med Genet. 1997. PMID: 9375926

8

Heterogeneity in hereditary pancreatitis.

Dasouki MJ, Cogan J, Summar ML, Neblitt W 3rd, Foroud T, Koller D, Phillips JA 3rd. Dasouki MJ, et al. Am J Med Genet. 1998 Apr 28;77(1):47-53. Am J Med Genet. 1998. PMID: 9557894

9

Occurrence of holoprosencephaly in chromosome 13 disorders cannot be explained by duplication/deficiency of a single locus.

Wilson GN, Dasouki M, Barr M Jr. Wilson GN, et al. Among authors: dasouki m. Am J Med Genet Suppl. 1986;2:65-72. doi: 10.1002/ajmg.1320250610. Am J Med Genet Suppl. 1986. PMID: 3146301

10

Gene symbol: DMD. Disease: Muscular dystrophy, Duchenne.

Dasouki M, Barohn R. Dasouki M, et al. Hum Genet. 2008 Oct;124(3):321. Hum Genet. 2008. PMID: 18846679 No abstract available.

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