Search Results - "Shinawi, Marwan S"

Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients by Wongkittichote, Parith, Wegner, Daniel J, Shinawi, Marwan S

“…HCFC1, a global transcriptional regulator, has been shown to associate with MMACHC expression. Pathogenic variants in HCFC1 cause X-linked combined…”
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Child Neurology: Five-Year Update on Siblings With Riboflavin Transporter Deficiency: Stable Visual and Neurologic Status With Continued Riboflavin Therapy by O'Brien, Marisa A., Culican, Susan M., Shinawi, Marwan S., Zaidman, Craig M.

“…Riboflavin transporter deficiency (RTD), previously referred to as Brown-Vialetto-Van Laere syndrome, is caused by pathogenic variants in the SLC52A1, SLC52A2,…”
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Hyperammonemia and acute liver failure associated with deferasirox in two adolescents with sickle cell disease by Towerman, Alison S., Guilliams, Kristin P., Guerriero, Réjean, Shinawi, Marwan S., Stoll, Janis M., Willis, Daniel N., Hulbert, Monica L.

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Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome by Wineland, Andre, Menezes, Maithilee D, Shimony, Joshua S, Shinawi, Marwan S, Hullar, Timothy E, Hirose, Keiko

“…CHARGE syndrome refers to a syndrome involving coloboma, heart defects, atresia choanae, retardation of growth and development, genitourinary disorders, and…”
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An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP by Mah-Som, Annelise Y., Daw, Jil, Huynh, Diana, Wu, Mengcheng, Creekmore, Benjamin C., Burns, William, Skinner, Steven A., Holla, Øystein L., Smeland, Marie F., Planes, Marc, Uguen, Kevin, Redon, Sylvia, Bierhals, Tatjana, Scholz, Tasja, Denecke, Jonas, Mensah, Martin A., Sczakiel, Henrike L., Tichy, Heidelis, Verheyen, Sarah, Blatterer, Jasmin, Schreiner, Elisabeth, Thies, Jenny, Lam, Christina, Spaeth, Christine G., Pena, Loren, Ramsey, Keri, Narayanan, Vinodh, Seaver, Laurie H., Rodriguez, Diana, Afenjar, Alexandra, Burglen, Lydie, Lee, Edward B., Chou, Tsui-Fen, Weihl, Conrad C., Shinawi, Marwan S.

“…Valosin-containing protein (VCP) is an AAA+ ATPase that plays critical roles in multiple ubiquitin-dependent cellular processes. Dominant pathogenic variants…”
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Birth Defects Among 788 Children Born to Gulf War Veterans Based on Physical Examination by Shinawi, Marwan S, Alpern, Renee, Toomey, Rosemary, Dannenfeldt, Diane S, Reda, Domenic J, Blanchard, Melvin

“…OBJECTIVE:The aim of the study was to examine the prevalence of birth defects among children born to Gulf War veterans. METHODS:Seven hundred eighty-eight…”
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Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord by Wongkittichote, Parith, Choi, Tae‐Ik, Kim, Oc‐Hee, Riley, Kacie, Koeberl, Dwight, Narayanan, Vinodh, Ramsey, Keri, Balak, Chris, Schwartz, Charles E., Cueto‐Gonzalez, Anna Maria, Casadesus, Francina Munell, Kim, Cheol‐Hee, Shinawi, Marwan S.

“…ZC4H2 (MIM# 300897) is a nuclear factor involved in various cellular processes including proliferation and differentiation of neural stem cells, ventral spinal…”
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Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome by Steele, Jacqueline L., Morrow, Michelle M., Sarnat, Harvey B., Alkhunaizi, Ebba, Brandt, Tracy, Chitayat, David A., DeFilippo, Colette P., Douglas, Ganka V., Dubbs, Holly A., Elloumi, Houda Zghal, Glassford, Megan R., Hannibal, Mark C., Héron, Bénédicte, Kim, Linda E., Marco, Elysa J., Mignot, Cyril, Monaghan, Kristin G., Myers, Kenneth A., Parikh, Sumit, Quinonez, Shane C., Rajabi, Farrah, Shankar, Suma P., Shinawi, Marwan S., van de Kamp, Jiddeke J.P., Veerapandiyan, Aravindhan, Waldman, Amy T., Graf, William D.

“…Semaphorins and plexins are ligands and cell surface receptors that regulate multiple neurodevelopmental processes such as axonal growth and guidance. PLXNA3…”
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New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra by Mah-Som, Annelise Y., Skrypnyk, Cristina, Guerin, Andrea, Seroor Jadah, Raafat Hammad, Vardhan, Vinayak Nivrutti, McKinstry, Robert C., Shinawi, Marwan S.

“…To report 6 new patients with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma (CEDNIK) syndrome. Clinical exome or targeted sequencing were…”
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