Búsqueda | Portal de Búsqueda de la BVS España

1.

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.

Rainger, Joe; van Beusekom, Ellen; Ramsay, Jacqueline K; McKie, Lisa; Al-Gazali, Lihadh; Pallotta, Rosanna; Saponari, Anita; Branney, Peter; Fisher, Malcolm; Morrison, Harris; Bicknell, Louise; Gautier, Philippe; Perry, Paul; Sokhi, Kishan; Sexton, David; Bardakjian, Tanya M; Schneider, Adele S; Elcioglu, Nursel; Ozkinay, Ferda; Koenig, Rainer; Mégarbané, Andre; Semerci, C Nur; Khan, Ayesha; Zafar, Saemah; Hennekam, Raoul; Sousa, Sérgio B; Ramos, Lina; Garavelli, Livia; Furga, Andrea Superti; Wischmeijer, Anita; Jackson, Ian J; Gillessen-Kaesbach, Gabriele; Brunner, Han G; Wieczorek, Dagmar; van Bokhoven, Hans; FitzPatrick, David R.

PLoS Genet; 14(12): e1007866, 2018 12.

Artículo en Inglés | MEDLINE | ID: mdl-30586382

2.

Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome.

Micheal, Shazia; Siddiqui, Sorath Noorani; Zafar, Saemah Nuzhat; Venselaar, Hanka; Qamar, Raheel; Khan, Muhammad Imran; den Hollander, Anneke I.

Neurogenetics; 17(1): 17-23, 2016 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-26489929

3.

Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma.

Micheal, Shazia; Ayub, Humaira; Zafar, Saemah N; Bakker, Bjorn; Ali, Mahmood; Akhtar, Farah; Islam, Farrah; Khan, Muhammad I; Qamar, Raheel; den Hollander, Anneke I.

Clin Exp Ophthalmol; 43(1): 31-9, 2015.

Artículo en Inglés | MEDLINE | ID: mdl-25091052

4.

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.

Rainger, Joe; van Beusekom, Ellen; Ramsay, Jacqueline K; McKie, Lisa; Al-Gazali, Lihadh; Pallotta, Rosanna; Saponari, Anita; Branney, Peter; Fisher, Malcolm; Morrison, Harris; Bicknell, Louise; Gautier, Philippe; Perry, Paul; Sokhi, Kishan; Sexton, David; Bardakjian, Tanya M; Schneider, Adele S; Elcioglu, Nursel; Ozkinay, Ferda; Koenig, Rainer; Mégarbané, Andre; Semerci, C Nur; Khan, Ayesha; Zafar, Saemah; Hennekam, Raoul; Sousa, Sérgio B; Ramos, Lina; Garavelli, Livia; Furga, Andrea Superti; Wischmeijer, Anita; Jackson, Ian J; Gillessen-Kaesbach, Gabriele; Brunner, Han G; Wieczorek, Dagmar; van Bokhoven, Hans; Fitzpatrick, David R.

PLoS Genet; 7(7): e1002114, 2011 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-21750680

5.

Duane's syndrome: surgical outcome and non ophthalmologic associations.

Sarfraz, Sarah; Zafar, Saemah Nuzhat; Khan, Ayesha.

J Ayub Med Coll Abbottabad; 26(3): 328-30, 2014.

Artículo en Inglés | MEDLINE | ID: mdl-25671939

6.

Outcome of surgical treatment of monocular elevation deficiency.

Zafar, Saemah Nuzhat; Azad, Nadia; Khan, Ayesha.

J Pak Med Assoc; 62(4): 355-7, 2012 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-22755280

7.

A case of systemic lupus erythematosus with aplastic anaemia.

Ahmad, Saqib Qayyum; Khan, Obaidullah; Zafar, Saerah Iffat; Zafar, Saemah Nuzhat.

J Pak Med Assoc; 61(8): 817-9, 2011 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-22356010

8.

Vein of Galen aneurysmal malformation masquerading as carotid cavernous fistula in a child with proptosis.

Zafar, Sarah; Zafar, Saemah N; Khan, Ayesha; Zafar, Saerah Iffat.

Eur J Ophthalmol; 19(5): 894-6, 2009.

Artículo en Inglés | MEDLINE | ID: mdl-19787619

9.

Variable retinal presentations in nanophthalmos.

Khan, Ayesha; Zafar, Saemah Nuzhat.

J Pak Med Assoc; 59(11): 791-3, 2009 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-20361684

10.

Ptosis associated with monocular elevation deficiency.

Zafar, Saemah Nuzhat; Khan, Ayesha; Azad, Nadia; Ali, Mahmood; Naseer, Samina; Iqbal, Sarah.

J Pak Med Assoc; 59(8): 522-4, 2009 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-19757696

11.

Identification of a Novel ZNF469 Mutation in a Pakistani Family With Brittle Cornea Syndrome.

Micheal, Shazia; Siddiqui, Sorath Noorani; Zafar, Saemah Nuzhat; Gabriëla Niewold, Ilse Therésia; Khan, Muhammad Imran; Bergen, Arthur A B.

Cornea; 38(6): 718-722, 2019 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-30865045

12.

Mutational analysis of the CYP1B1 gene in Pakistani primary congenital glaucoma patients: Identification of four known and a novel causative variant at the 3' splice acceptor site of intron 2.

Afzal, Rabia; Firasat, Sabika; Kaul, Haiba; Ahmed, Bashir; Siddiqui, Sorath N; Zafar, Saemah N; Shahzadi, Misbah; Afshan, Kiran.

Congenit Anom (Kyoto); 59(5): 152-161, 2019 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-30270463

13.

Detachment of Descemet's membrane following stromal hydration in phacoemulsification surgery.

Zafar, Saemah Nuzhat; Khan, Ayesha.

J Coll Physicians Surg Pak; 18(3): 179-80, 2008 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-18460250

14.

Delineation of Novel Autosomal Recessive Mutation in GJA3 and Autosomal Dominant Mutations in GJA8 in Pakistani Congenital Cataract Families.

Micheal, Shazia; Niewold, Ilse Therésia Gabriëla; Siddiqui, Sorath Noorani; Zafar, Saemah Nuzhat; Khan, Muhammad Imran; Bergen, Arthur A B.

Genes (Basel); 9(2)2018 Feb 20.

Artículo en Inglés | MEDLINE | ID: mdl-29461512

15.

Variants in the PRPF8 Gene are Associated with Glaucoma.

Micheal, Shazia; Hogewind, Barend F; Khan, Muhammad Imran; Siddiqui, Sorath Noorani; Zafar, Saemah Nuzhat; Akhtar, Farah; Qamar, Raheel; Hoyng, Carel B; den Hollander, Anneke I.

Mol Neurobiol; 55(5): 4504-4510, 2018 May.

Artículo en Inglés | MEDLINE | ID: mdl-28707069

16.

Ocular manifestations of xeroderma pigmentosum.

Zafar, Saemah Nuzhat; Khan, Ayesha; Rubab, Shehla; Zafar, Nadeem.

J Coll Physicians Surg Pak; 17(12): 751-3, 2007 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-18182142

17.

Retinoblastoma presenting as total hyphema: Three year follow-up.

Zafar, Saemah Nuzhat; Zaheer, Naima; Khan, Mumtaz Ahmad.

Saudi J Ophthalmol; 31(4): 272-274, 2017.

Artículo en Inglés | MEDLINE | ID: mdl-29234233

18.

Congenital Cataract, Nasolacrimal Duct Obstruction, and Methicillin-Resistant Staphylococcus aureus Conjunctivitis: When to Operate?

Siddiqui, Sorath Noorani; Zafar, Saemah Nuzhat.

J Pediatr Ophthalmol Strabismus; 53 Online: e29-31, 2016 Jul 05.

Artículo en Inglés | MEDLINE | ID: mdl-27383382

19.

Tumor Regression Patterns in Retinoblastoma.

Zafar, Saemah Nuzhat; Siddiqui, Sorath Noorani; Zaheer, Naima.

J Coll Physicians Surg Pak; 26(11): 896-899, 2016 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-27981923

20.

Anisometropia and Ptosis in Patients with Monocular Elevation Deficiency.

Zafar, Saemah Nuzhat; Islam, Farrah; Khan, Abdul Moqeet.

J Coll Physicians Surg Pak; 26(10): 835-838, 2016 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-27806813

Portal de Búsqueda de la BVS España

Información y Conocimiento para la Salud

Configurar filtros

Su selección (0)

Formato de exportación:

Exportar: