ACVR1C/SMAD2 signaling promotes invasion and growth in retinoblastoma von Asnaghi, Laura, White, David T., Key, Nolan, Choi, Joshua, Mahale, Alka, Alkatan, Hind, Edward, Deepak P., Elkhamary, Sahar M., Al-Mesfer, Saleh, Maktabi, Azza, Hurtado, Christopher G., Lee, Grace Y., Carcaboso, Angel M., Mumm, Jeff S., Safieh, Leen Abu, Eberhart, Charles G.

Volltext

Corneal Vascularization Associated With a Novel PDGFRB Variant von Gladkauskas, Titas, Bruland, Ove, Abu Safieh, Leen, Edward, Deepak P., Rødahl, Eyvind, Bredrup, Cecilie

Volltext

Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions von Bredrup, Cecilie, Cristea, Ileana, Safieh, Leen Abu, Di Maria, Emilio, Gjertsen, Bjørn Tore, Tveit, Kåre Steinar, Thu, Frode, Bull, Nils, Edward, Deepak P, Hennekam, Raoul C M, Høvding, Gunnar, Haugen, Olav H, Houge, Gunnar, Rødahl, Eyvind, Bruland, Ove

Volltext

EYS , encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa von Barragan, Isabel, Shah, Amna, Mena, Marcela, Abd El-Aziz, Mai M, El-Ashry, Mohamed F, Cheetham, Michael E, Antinolo, Guillermo, O'Driscoll, Ciara A, Ponting, Chris P, Goodstadt, Leo, Pieras, Juan I, Prigmore, Elena, Safieh, Leen Abu, Chakarova, Christina, Borrego, Salud, Carter, Nigel P, Bhattacharya, Shomi S

Volltext

Benign reactive lymphoid hyperplasia of the conjunctiva in childhood von AlAkeely, Adel G, Alkatan, Hind M, Alsuhaibani, Adel H, AlKhalidi, Hisham, Safieh, Leen Abu, Coupland, Sarah E, Edward, Deepak P

Volltext

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes von Abu-Safieh, Leen, Alrashed, May, Anazi, Shamsa, Alkuraya, Hisham, Khan, Arif O, Al-Owain, Mohammed, Al-Zahrani, Jawahir, Al-Abdi, Lama, Hashem, Mais, Al-Tarimi, Salwa, Sebai, Mohammed-Adeeb, Shamia, Ahmed, Ray-Zack, Mohamed D, Nassan, Malik, Al-Hassnan, Zuhair N, Rahbeeni, Zuhair, Waheeb, Saad, Alkharashi, Abdullah, Abboud, Emad, Al-Hazzaa, Selwa A F, Alkuraya, Fowzan S

Volltext

Genetic profiling of rhabdomyosarcoma with clinicopathological and radiological correlation von Albalawi, Eman D., Alkatan, Hind M., Elkhamary, Sahar M., Safieh, Leen Abu, Maktabi, Azza M.Y.

Volltext

Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy von Safieh, Leen Abu, Al-Otaibi, Humoud M, Lewis, Richard Alan, Kozak, Igor

Volltext

Molecular characterization of retinitis pigmentosa in Saudi Arabia von Aldahmesh, Mohammed A, Safieh, Leen Abu, Alkuraya, Hisham, Al-Rajhi, Ali, Shamseldin, Hanan, Hashem, Mais, Alzahrani, Fatemah, Khan, Arif O, Alqahtani, Faisal, Rahbeeni, Zuhair, Alowain, Mohammed, Khalak, Hanif, Al-Hazzaa, Salwa, Meyer, Brian F, Alkuraya, Fowzan S

Volltext

In search of triallelism in Bardet-Biedl syndrome von ABU-SAFIEH, Leen, AL-ANAZI, Shamsa, AL-SALEM, Ahmad, ALRASHED, May, FAQEIH, Eissa, SOFTAH, Ameen, AL-HASHEM, Amal, WALI, Sami, RAHBEENI, Zuhair, ALSAYED, Moeen, KHAN, Arif O, AL-GAZALI, Lihadh, AL-ABDI, Lama, TASCHNER, Peter Em, AL-HAZZAA, Selwa, ALKURAYA, Fowzan S, HASHEM, Mais, ALKURAYA, Hisham, ALAMR, Mushari, SIRELKHATIM, Mugtaba O, AL-HASSNAN, Zuhair, ALKURAYA, Basim, MOHAMED, Jawahir Y

Volltext

Molecular characterization of Joubert syndrome in Saudi Arabia von Alazami, Anas M., Alshammari, Muneera J., Salih, Mustafa A., Alzahrani, Fatema, Hijazi, Hadia, Seidahmed, Mohammed Z., Abu Safieh, Leen, Aldosary, Mazhor, Khan, Arif O., Alkuraya, Fowzan S.

Volltext

Methylation Profiling of Medulloblastoma in a Clinical Setting Permits Sub-classification and Reveals New Outcome Predictions von Alharbi, Musa, Mobark, Nahla, Bashawri, Yara, Abu Safieh, Leen, Alowayn, Albandary, Aljelaify, Rasha, AlSaeed, Mariam, Almutairi, Amal, Alqubaishi, Fatimah, AlSolme, Ebtehal, Ahmad, Maqsood, Al-Banyan, Ayman, Alotabi, Fahad E, Serrano, Jonathan, Snuderl, Matija, Al-Rashed, May, Abedalthagafi, Malak

Volltext

MicroRNA profiling in intraocular medulloepitheliomas von Edward, Deepak P, Alkatan, Hind, Rafiq, Qundeel, Eberhart, Charles, Al Mesfer, Saleh, Ghazi, Nicola, Al Safieh, Leen, Kondkar, Altaf A, Abu Amero, Khaled K

Volltext

Factors that influence a patient's decision to engage in genetic research von Almutairi, Amal, Alqubaishi, Fatimah Abdulrahman, Alsolm, Ebtehal A, Binowayn, Albandari, Almohammad, Rania, Wani, Tariq, Ababtain, Aljohara, Alkadi, Udai, Alrashed, May M, Althagafi, Malak, Abu-Safieh, Leen

Volltext

Retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome can be associated with coronary and major systemic arterial disease von Jomar, Deema E., Albakri, Amani S., Safieh, Leen Abu, Nowilaty, Sawsan R.

Volltext

Allelic heterogeneity in inbred populations: The Saudi experience with Alström syndrome as an illustrative example von Aldahmesh, Mohamed A., Abu‐Safieh, Leen, Khan, Arif O., Al‐Hassnan, Zuhair N., Shaheen, Ranad, Rajab, Mohammed, Monies, Dorota, Meyer, Brian F., Alkuraya, Fowzan S.

Volltext

Mutation of IGFBP7 Causes Upregulation of BRAF/MEK/ERK Pathway and Familial Retinal Arterial Macroaneurysms von Abu-Safieh, Leen, Abboud, Emad B., Alkuraya, Hisham, Shamseldin, Hanan, Al-Enzi, Shamsa, Al-Abdi, Lama, Hashem, Mais, Colak, Dilek, Jarallah, Abdullah, Ahmad, Hala, Bobis, Steve, Nemer, Georges, Bitar, Fadi, Alkuraya, Fowzan S.

Volltext

A Human Homolog of Yeast Pre-mRNA Splicing Gene, PRP31, Underlies Autosomal Dominant Retinitis Pigmentosa on Chromosome 19q13.4 ( RP11) von Vithana, Eranga N., Abu-Safieh, Leen, Allen, Maxine J., Carey, Alisoun, Papaioannou, Myrto, Chakarova, Christina, Al-Maghtheh, Mai, Ebenezer, Neil D., Willis, Catherine, Moore, Anthony T., Bird, Alan C., Hunt, David M., Bhattacharya, Shomi S.

Volltext

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity von Khalak, Hanif G., Wakil, Salma M., Imtiaz, Faiqa, Ramzan, Khushnooda, Baz, Batoul, Almostafa, Abeer, Hagos, Samya, Alzahrani, Fatema, Abu-Dhaim, Nada, Abu Safieh, Leen, Al-Jbali, Latifa, Al-Hamed, Mohammed S., Monies, Dorota, Aldahmesh, Mohammed, Al-Dosari, Mohammed S., Kaya, Namik, Shamseldin, Hanan, Shaheen, Ranad, Al-Rashed, May, Hashem, Mais, Al-Tassan, Nada, Meyer, Brian, Alazami, Anas M., Alkuraya, Fowzan S.

Volltext

Advanced coats-like retinopathy as the initial presentation of Familial Retinal Arterial Macroaneurysms von Alsulaiman, Sulaiman M, Abu-Safieh, Leen, AlJarallah, Abdullah S, AlAbdulhafid, Majed, AlKahtani, Eman S

Volltext