Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects

Por Sakati Nadia, Al-Odaib Ali, Al-Habit Ola, Colak Dilek, Alshidi Tarfa A, AbuDheim Nada, Al-Dosari Naji, Al-Zahrani Jawaher, Meyer Brian, Ozand Pinar T, Kaya Namik
Publicado em 2011-04-01

Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects

Por Al-Zahrani, Jawaher, Al-Dosari, Naji, AbuDheim, Nada, Alshidi, Tarfa A, Colak, Dilek, Al-Habit, Ola, Al-Odaib, Ali, Sakati, Nadia, Meyer, Brian, Ozand, Pinar T, Kaya, Namik
Publicado em 2011

GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome

Por Patel, Nisha, Shamseldin, Hanan E., Sakati, Nadia, Khan, Arif O., Softa, Ameen, Al-Fadhli, Fatima M., Hashem, Mais, Abdulwahab, Firdous M., Alshidi, Tarfa, Alomar, Rana, Alobeid, Eman, Wakil, Salma M., Colak, Dilek, Alkuraya, Fowzan S.
Publicado no Am J Hum Genet (2017)

Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice

Por Shaheen, Ranad, Anazi, Shams, Ben-Omran, Tawfeg, Seidahmed, Mohammed Zain, Caddle, L. Brianna, Palmer, Kristina, Ali, Rehab, Alshidi, Tarfa, Hagos, Samya, Goodwin, Leslie, Hashem, Mais, Wakil, Salma M., Abouelhoda, Mohamed, Colak, Dilek, Murray, Stephen A., Alkuraya, Fowzan S.
Publicado no Am J Hum Genet (2016)

A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation

Por Patel, Nisha, Khan, Arif O., Al-Saif, Maher, Moghrabi, Walid N., AlMaarik, Balsam M., Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Alshidi, Tarfa, Alobeid, Eman, Alomar, Rana A., Al-Harbi, Saad, Abouelhoda, Mohamed, Khabar, Khalid S. A., Alkuraya, Fowzan S.
Publicado no Genome Biol (2017)