Al-Gazali L - Search Results

1

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.

Roosing S, Romani M, Isrie M, Rosti RO, Micalizzi A, Musaev D, Mazza T, Al-Gazali L, Altunoglu U, Boltshauser E, D'Arrigo S, De Keersmaecker B, Kayserili H, Brandenberger S, Kraoua I, Mark PR, McKanna T, Van Keirsbilck J, Moerman P, Poretti A, Puri R, Van Esch H, Gleeson JG, Valente EM. Roosing S, et al. J Med Genet. 2016 Sep;53(9):608-15. doi: 10.1136/jmedgenet-2016-103832. Epub 2016 May 6. J Med Genet. 2016. PMID: 27208211 Free PMC article.

2

Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?

Revesz T, Fletcher S, al-Gazali LI, DeBuse P. Revesz T, et al. J Med Genet. 1992 Sep;29(9):673-5. doi: 10.1136/jmg.29.9.673. J Med Genet. 1992. PMID: 1404302 Free PMC article.

3

The profile of major congenital abnormalities in the United Arab Emirates (UAE) population.

al-Gazali LI, Dawodu AH, Sabarinathan K, Varghese M. al-Gazali LI, et al. J Med Genet. 1995 Jan;32(1):7-13. doi: 10.1136/jmg.32.1.7. J Med Genet. 1995. PMID: 7897633 Free PMC article.

4

A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents.

al-Gazali LI, Khalil M, Devadas K. al-Gazali LI, et al. J Med Genet. 1993 Jun;30(6):470-5. doi: 10.1136/jmg.30.6.470. J Med Genet. 1993. PMID: 8326490 Free PMC article.

5

Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates.

Al-Gazali LI, Varghese M, Varady E, Al Talabani J, Scorer J, Bakalinova D. Al-Gazali LI, et al. J Med Genet. 1996 Mar;33(3):203-11. doi: 10.1136/jmg.33.3.203. J Med Genet. 1996. PMID: 8728692 Free PMC article.

6

Further delineation of Nevo syndrome.

al-Gazali LI, Bakalinova D, Varady E, Scorer J, Nork M. al-Gazali LI, et al. J Med Genet. 1997 May;34(5):366-70. doi: 10.1136/jmg.34.5.366. J Med Genet. 1997. PMID: 9152832 Free PMC article.

7

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.

8

A syndrome of immune complex glomerulonephritis and ophthalmic abnormalities.

Amirlak I, Sabnis SG, Al-Gazali L, Abdulrazzaq YM. Amirlak I, et al. J Med Genet. 1999 Aug;36(8):641-4. J Med Genet. 1999. PMID: 10465118 Free PMC article.

9

Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes.

al-Gazali LI, Sztriha L, Dawodu A, Varady E, Bakir M, Khdir A, Johansen J. al-Gazali LI, et al. J Med Genet. 1999 Jun;36(6):461-6. J Med Genet. 1999. PMID: 10874634 Free PMC article.

10

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

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