Abidi F - Search Results

1

Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.

Delaunoy J, Abidi F, Zeniou M, Jacquot S, Merienne K, Pannetier S, Schmitt M, Schwartz C, Hanauer A. Delaunoy J, et al. Among authors: abidi f. Hum Mutat. 2001 Feb;17(2):103-16. doi: 10.1002/1098-1004(200102)17:2<103::AID-HUMU2>3.0.CO;2-N. Hum Mutat. 2001. PMID: 11180593

2

Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS).

Abidi F, Jacquot S, Lassiter C, Trivier E, Hanauer A, Schwartz CE. Abidi F, et al. Eur J Hum Genet. 1999 Jan;7(1):20-6. doi: 10.1038/sj.ejhg.5200231. Eur J Hum Genet. 1999. PMID: 10094187

3

Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.

Villard L, Bonino MC, Abidi F, Ragusa A, Belougne J, Lossi AM, Seaver L, Bonnefont JP, Romano C, Fichera M, Lacombe D, Hanauer A, Philip N, Schwartz C, Fontés M. Villard L, et al. Among authors: abidi f. J Med Genet. 1999 Mar;36(3):183-6. J Med Genet. 1999. PMID: 10204841 Free PMC article.

4

Cognitive function in Coffin-Lowry syndrome.

Simensen RJ, Abidi F, Collins JS, Schwartz CE, Stevenson RE. Simensen RJ, et al. Among authors: abidi f. Clin Genet. 2002 Apr;61(4):299-304. doi: 10.1034/j.1399-0004.2002.610410.x. Clin Genet. 2002. PMID: 12030896

5

A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25.

Cabezas DA, Slaugh R, Abidi F, Arena JF, Stevenson RE, Schwartz CE, Lubs HA. Cabezas DA, et al. Among authors: abidi f. J Med Genet. 2000 Sep;37(9):663-8. doi: 10.1136/jmg.37.9.663. J Med Genet. 2000. PMID: 10978355 Free PMC article.

6

Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.

Stevenson RE, Abidi F, Schwartz CE, Lubs HA, Holmes LB. Stevenson RE, et al. Among authors: abidi f. Am J Med Genet. 2000 Oct 23;94(5):383-5. doi: 10.1002/1096-8628(20001023)94:5<383::aid-ajmg7>3.0.co;2-7. Am J Med Genet. 2000. PMID: 11050622 No abstract available.

7

A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate.

Abidi F, Miano M, Murray J, Schwartz C. Abidi F, et al. Clin Genet. 2007 Jul;72(1):19-22. doi: 10.1111/j.1399-0004.2007.00817.x. Clin Genet. 2007. PMID: 17594395 Free PMC article.

8

X-linked mental retardation with variable stature, head circumference, and testicular volume linked to Xq12-q21.

Abidi F, Hall BD, Cadle RG, Feldman GL, Lubs HA, Ouzts LV, Arena JF, Stevenson RE, Schwartz CE. Abidi F, et al. Am J Med Genet. 1999 Jul 30;85(3):223-9. doi: 10.1002/(sici)1096-8628(19990730)85:3<223::aid-ajmg8>3.0.co;2-r. Am J Med Genet. 1999. PMID: 10398233

9

XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28.

Lubs H, Abidi F, Bier JA, Abuelo D, Ouzts L, Voeller K, Fennell E, Stevenson RE, Schwartz CE, Arena F. Lubs H, et al. Among authors: abidi f. Am J Med Genet. 1999 Jul 30;85(3):243-8. doi: 10.1002/(sici)1096-8628(19990730)85:3<243::aid-ajmg11>3.0.co;2-e. Am J Med Genet. 1999. PMID: 10398236

10

Exclusion of nine candidate genes for their involvement in X-linked FG syndrome (FGS1) in three families.

Lossi AM, Colleaux L, Chiaroni P, Fontes M, Villard L, Abidi F, Schwartz C, Briault S, Moraine C. Lossi AM, et al. Among authors: abidi f. Am J Med Genet. 2000 Oct 23;94(5):386-8. doi: 10.1002/1096-8628(20001023)94:5<386::aid-ajmg8>3.0.co;2-1. Am J Med Genet. 2000. PMID: 11050623 No abstract available.

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