Abnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation

por Sabry, Sahar, Eissa, Noura R., Zaki, Maha S.
Publicado 2023

Co-occurrence of Distinct Ciliopathy Diseases in Single Families Suggests Genetic Modifiers

por Zaki, Maha S, Sattar, Shifteh, Massoudi, Rustin A, Gleeson, Joseph G
Publicado 2011

A Novel Homozygous ADCY5 Variant is Associated with a Neurodevelopmental Disorder and Movement Abnormalities

por Kaiyrzhanov, Rauan, Zaki, Maha S., Maroofian, Reza, Dominik, Natalia, Rad, Aboulfazl, Vona, Barbara, Houlden, Henry
Publicado 2021

Variable predicted pathogenic mechanisms for novel MECP2 variants in RTT patients

por Sharaf-Eldin, Wessam E., Issa, Mahmoud Y., Zaki, Maha S., Kilany, Ayman, Fayez, Alaaeldin G.
Publicado 2022

Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation

por Zaki, Maha, Thoenes, Michaela, Kawalia, Amit, Nürnberg, Peter, Kaiser, Rolf, Heller, Raoul, Bolz, Hanno J.
Publicado 2017

Seizure control during pregnancy and postpartum period in women with epilepsy: an Egyptian prospective study

por Hosny, Hassan, Al Kattan, Manal Mahmoud, Zaki, Maha A., Ramzy, Gihan M., Al-Azayem, Salsabil Abo, Magdy, Rehab
Publicado 2023

Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree

por Makrythanasis, Periklis, Guipponi, Michel, Santoni, Federico A., Zaki, Maha, Issa, Mahmoud Y., Ansar, Muhammad, Hamamy, Hanan, Antonarakis, Stylianos E.
Publicado 2016

An atypical expression of core α-Dystroglycan and Laminin-α2 in skin fibroblasts of patients with congenital muscular dystrophies

por Sabry, Sahar, Issa, Mahmoud Y, Abdel-Hamid, Mohamed S, Eissa, Noura R, Abdel-Ghafar, Sherif F, Ibrahim, Mona M, Zaki, Maha S
Publicado 2023

A Homozygous IER3IP1 Mutation Causes Microcephaly With Simplified Gyral Pattern, Epilepsy, and Permanent Neonatal Diabetes Syndrome (MEDS)

por Abdel-Salam, Ghada MH, Schaffer, Ashleigh E, Zaki, Maha S, Dixon-Salazar, Tracy, Mostafa, Inas S, Afifi, Hanan H, Gleeson, Joseph G
Publicado 2012

New Recessive Syndrome of Microcephaly, Cerebellar Hypoplasia, and Congenital Heart Conduction Defect

por Zaki, Maha S, Salam, Ghada M H Abdel, Saleem, Sahar N, Dobyns, William B, Issa, Mahmoud Y, Sattar, Shifteh, Gleeson, Joseph G
Publicado 2011

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome

por Lancaster, Madeline A., Gopal, Dipika J., Kim, Joon, Saleem, Sahar N., Silhavy, Jennifer L., Louie, Carrie M., Thacker, Bryan E., Williams, Yuko, Zaki, Maha S., Gleeson, Joseph G.
Publicado 2011

Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder

por Maroofian, Reza, Efthymiou, Stephanie, Suri, Mohnish, Rahman, Fatima, Zaki, Maha S, Maqbool, Shazia, Anwa, Najwa, Ruiz-Pérez, Victor L, Yanovsky-Dagan, Shira, Elpeleg, Orly, Sudhakar, Sniya, Mankad, Kshitij, Harel, Tamar, Houlden, Henry
Publicado 2023

Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families

por Issa, Mahmoud Y., Chechlacz, Zinayida, Stanley, Valentina, George, Renee D., McEvoy-Venneri, Jennifer, Belandres, Denice, Elbendary, Hasnaa M., Gaber, Khaled R., Nabil, Ahmed, Abdel-Hamid, Mohamed S., Zaki, Maha S., Gleeson, Joseph G.
Publicado 2020

Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy

por Maroofian, Reza, Sedmík, Jiří, Mazaheri, Neda, Scala, Marcello, Zaki, Maha S, Keegan, Liam P, Azizimalamiri, Reza, Issa, Mahmoud, Shariati, Gholamreza, Sedaghat, Alireza, Beetz, Christian, Bauer, Peter, Galehdari, Hamid, O’Connell, Mary A, Houlden, Henry
Publicado 2021

Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course

por Maroofian, Reza, Gubas, Andrea, Kaiyrzhanov, Rauan, Scala, Marcello, Hundallah, Khalid, Severino, Mariasavina, Abdel-Hamid, Mohamed S, Rosenfeld, Jill A, Ebrahimi-Fakhari, Darius, Ali, Zahir, Rahim, Fazal, Houlden, Henry, Tooze, Sharon A, Alsaleh, Norah S, Zaki, Maha S
Publicado 2021

Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features

por Zaki, Maha S., Accogli, Andrea, Mirzaa, Ghayda, Rahman, Fatima, Mohammed, Hiba, Porras-Hurtado, Gloria Liliana, Efthymiou, Stephanie, Maqbool, Shazia, Shukla, Anju, Vincent, John B., Hussain, Abrar, Mir, Asif, Beetz, Christian, Leubauer, Anika, Houlden, Henry, Gleeson, Joseph G., Maroofian, Reza
Publicado 2021

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man

por Tuschl, Karin, Clayton, Peter T., Gospe, Sidney M., Gulab, Shamshad, Ibrahim, Shahnaz, Singhi, Pratibha, Aulakh, Roosy, Ribeiro, Reinaldo T., Barsottini, Orlando G., Zaki, Maha S., Del Rosario, Maria Luz, Dyack, Sarah, Price, Victoria, Rideout, Andrea, Gordon, Kevin, Wevers, Ron A., Chong, W.K. ‘‘Kling’’, Mills, Philippa B.
Publicado 2016

Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature

por Mekkawy, Mona K., Kamel, Alaa K., Thomas, Manal M., Ashaat, Engy A., Zaki, Maha S., Eid, Ola M., Ismail, Samira, Hammad, Saida A., Megahed, Hisham, ElAwady, Heba, Refaat, Khaled M., Hussien, Shymaa, Helmy, Nivine, Abd Allah, Sally G., Mohamed, Amal M., El Ruby, Mona O.
Publicado 2020

Expanding the phenotype of PIGS‐associated early onset epileptic developmental encephalopathy

por Efthymiou, Stephanie, Dutra‐Clarke, Marina, Maroofian, Reza, Kaiyrzhanov, Rauan, Scala, Marcello, Reza Alvi, Javeria, Sultan, Tipu, Christoforou, Marilena, Tuyet Mai Nguyen, Thi, Mankad, Kshitij, Vona, Barbara, Rad, Aboulfazl, Striano, Pasquale, Salpietro, Vincenzo, Guillen Sacoto, Maria J., Zaki, Maha S., Gleeson, Joseph G., Campeau, Philippe M., Russell, Bianca E., Houlden, Henry
Publicado 2021

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

por Di Donato, Nataliya, Timms, Andrew E., Aldinger, Kimberly A., Mirzaa, Ghayda M., Bennett, James T., Collins, Sarah, Olds, Carissa, Mei, Davide, Chiari, Sara, Carvill, Gemma, Myers, Candace T., Rivière, Jean-Baptiste, Zaki, Maha S., Gleeson, Joseph G., Rump, Andreas, Conti, Valerio, Parrini, Elena, Ross, M. Elizabeth, Ledbetter, David H., Guerrini, Renzo, Dobyns, William B.
Publicado 2018