Al-Gazali L - Search Results

1

Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication.

Kodani A, Yu TW, Johnson JR, Jayaraman D, Johnson TL, Al-Gazali L, Sztriha L, Partlow JN, Kim H, Krup AL, Dammermann A, Krogan NJ, Walsh CA, Reiter JF. Kodani A, et al. Elife. 2015 Aug 22;4:e07519. doi: 10.7554/eLife.07519. Elife. 2015. PMID: 26297806 Free PMC article.

2

Spondylo-meta-epiphyseal dysplasia, short limb, abnormal calcification type.

al-Gazali LI, Bakalinova D, Sztriha L. al-Gazali LI, et al. Clin Dysmorphol. 1996 Jul;5(3):197-206. Clin Dysmorphol. 1996. PMID: 8818447

3

Abnormal myelination in peroxisomal isolated dihydroxyacetonephosphate acyltransferase deficiency.

Sztriha LS, Nork MP, Abdulrazzaq YM, al-Gazali LI, Bakalinova DB. Sztriha LS, et al. Pediatr Neurol. 1997 Apr;16(3):232-6. doi: 10.1016/s0887-8994(97)00014-3. Pediatr Neurol. 1997. PMID: 9165515

4

Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome?

Al-Gazali LI, Sztriha L, Punnose J, Shather W, Nork M. Al-Gazali LI, et al. J Med Genet. 1999 Feb;36(2):161-6. J Med Genet. 1999. PMID: 10051020 Free PMC article.

5

Hypocalvaria associated with intrauterine growth retardation, facial dysmorphism, congenital heart disease and camptomelia.

al-Gazali LI, Bakalinova D, Aziz S, Anwer O, Shather W, Sztriha L. al-Gazali LI, et al. Clin Dysmorphol. 1999 Apr;8(2):129-34. Clin Dysmorphol. 1999. PMID: 10319202

6

Joubert's syndrome: new cases and review of clinicopathologic correlation.

Sztriha L, Al-Gazali LI, Aithala GR, Nork M. Sztriha L, et al. Pediatr Neurol. 1999 Apr;20(4):274-81. doi: 10.1016/s0887-8994(98)00154-4. Pediatr Neurol. 1999. PMID: 10328276

7

Autosomal recessive micrencephaly with simplified gyral pattern, abnormal myelination and arthrogryposis.

Sztriha L, Al-Gazali LI, Várady E, Goebel HH, Nork M. Sztriha L, et al. Neuropediatrics. 1999 Jun;30(3):141-5. doi: 10.1055/s-2007-973479. Neuropediatrics. 1999. PMID: 10480209

8

Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency).

Sztriha L, Al-Gazali LI, Wanders RJ, Ofman R, Nork M, Lestringant GG. Sztriha L, et al. Dev Med Child Neurol. 2000 Jul;42(7):492-5. doi: 10.1017/s0012162200000918. Dev Med Child Neurol. 2000. PMID: 10972423 Free article.

9

Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same?

Al-Gazali LI, Sztriha L, Skaff F, Haas D. Al-Gazali LI, et al. Am J Med Genet. 2001 Jul 1;101(3):213-20. doi: 10.1002/ajmg.1352. Am J Med Genet. 2001. PMID: 11424136

10

Are the strokes in moyamoya syndrome associated with Down syndrome due to protein C deficiency?

Gururaj A, Hardy D, Al-Gazali LI, Sztriha L, Roos A, Nork M. Gururaj A, et al. Brain Dev. 2002 Oct;24(7):719-22. doi: 10.1016/s0387-7604(02)00075-x. Brain Dev. 2002. PMID: 12427521

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