Search Results - "Seidahmed, Mohammed Z."

Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15) by Seidahmed, Mohammed Z, Hamad, Muddathir H, AlBakheet, Albandary, Elmalik, Salah A, AlDrees, Abdulmajeed, Al-Sufayan, Jumanah, Alorainy, Ibrahim, Ghozzi, Ibrahim M, Colak, Dilek, Salih, Mustafa A, Kaya, Namik

“…Homozygous frameshift mutation in RUBCN (KIAA0226), known to result in endolysosomal machinery defects, has previously been reported in a single Saudi family…”
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Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes by Shaheen, Ranad, Faqeih, Eissa, Alshammari, Muneera J, Swaid, Abdulrahman, Al-Gazali, Lihadh, Mardawi, Elham, Ansari, Shinu, Sogaty, Sameera, Seidahmed, Mohammed Z, AlMotairi, Muhammed I, Farra, Chantal, Kurdi, Wesam, Al-Rasheed, Shatha, Alkuraya, Fowzan S

“…Meckel-Gruber syndrome (MKS, OMIM #249000) is a multiple congenital malformation syndrome that represents the severe end of the ciliopathy phenotypic spectrum…”
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Molecular characterization of Joubert syndrome in Saudi Arabia by 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.

“…Joubert syndrome (JS) is a ciliopathy that is defined primarily by typical cerebellar structural and ocular motility defects. The genetic heterogeneity of this…”
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GABA transaminase deficiency. Case report and literature review by Oshi, Amira, Alfaifi, Abdullah, Seidahmed, Mohammed Z., Al Hussein, Khalid, Miqdad, Abeer, Samadi, Abdelmohsin, Abdelbasit, Omar

“…GABA transaminase deficiency should be considered in the differential diagnosis of early onset epileptic encephalopathies. This case was diagnosed post‐mortem,…”
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Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome by Salih, Mustafa A, Seidahmed, Mohammed Z, El Khashab, Heba Y, Hamad, Muddathir H A, Bosley, Thomas M, Burn, Sabrina, Myers, Angela, Landsverk, Megan L, Crotwell, Patricia L, Bilguvar, Kaya, Mane, Shrikant, Kruer, Michael C

“…BACKGROUNDThe etiology of many cases of childhood-onset chorea remains undetermined, although advances in genomics are revealing both new disease-associated…”
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Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2 by Di Blasi, Claudia, Bellafiore, Emanuela, Salih, Mustafa Am, Manzini, M Chiara, Moore, Steven A, Seidahmed, Mohammed Z, Mukhtar, Maowia M, Karrar, Zein A, Walsh, Christopher A, Campbell, Kevin P, Mantegazza, Renato, Morandi, Lucia, Mora, Marina

“…Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene that encodes the laminin α2 chain, a component of the skeletal muscle…”
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Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome by Aboheimed, Ghada I., AlRasheed, Maha M., Almudimeegh, Sultan, Peña-Guerra, Karla A., Cardona-Londoño, Kelly J., Salih, Mustafa A., Seidahmed, Mohammed Z., Al-Mohanna, Futwan, Colak, Dilek, Harvey, Kirsten, Arold, Stefan T., Kaya, Namik, Ruiz, Arnaud J.

“…Hyperekplexia is a rare neurological disorder characterized by exaggerated startle responses affecting newborns with the hallmark characteristics of…”
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A TCTN2 mutation defines a novel Meckel Gruber syndrome locus by Shaheen, Ranad, Faqeih, Eissa, Seidahmed, Mohammed Z., Sunker, Asma, Alali, Faten Ezzat, Khadijah, AlQahtani, Alkuraya, Fowzan S.

“…Meckel Gruber syndrome (MKS) is an autosomal recessive multisystem disorder that represents a severe form of ciliopathy in humans and is characterized by…”
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Epidemiology, prenatal management, and prevention of neural tube defects by Salih, Mustafa A, Murshid, Waleed R, Seidahmed, Mohammed Z

“…This review article discusses the epidemiology, risk factors, prenatal screening, diagnosis, prevention potentials, and epidemiologic impact of neural tube…”
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Matching Two Independent Cohorts Validates DPH1 as a Gene Responsible for Autosomal Recessive Intellectual Disability with Short Stature, Craniofacial, and Ectodermal Anomalies by Loucks, Catrina M., Parboosingh, Jillian S., Shaheen, Ranad, Bernier, Francois P., McLeod, D. Ross, Seidahmed, Mohammed Z., Puffenberger, Erik G., Ober, Carole, Hegele, Robert A., Boycott, Kym M., Alkuraya, Fowzan S., Innes, A. Micheil

“…ABSTRACT Recently, Alazami et al. (2015) identified 33 putative candidate disease genes for neurogenetic disorders. One such gene was DPH1, in which a…”
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Classification, clinical features, and genetics of neural tube defects by Salih, Mustafa A, Murshid, Waleed R, Seidahmed, Mohammed Z

“…Neural tube defects (NTDs) constitute a major health burden (0.5-2/1000 pregnancies worldwide), and remain a preventable cause of still birth, neonatal, and…”
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The many faces of peroxisomal disorders: Lessons from a large Arab cohort by Alshenaifi, Jumanah, Ewida, Nour, Anazi, Shams, Shamseldin, Hanan E., Patel, Nisha, Maddirevula, Sateesh, Al‐Sheddi, Tarfa, Alomar, Rana, Alobeid, Eman, Ibrahim, Niema, Hashem, Mais, Abdulwahab, Firdous, Jacob, Minnie, Alhashem, Amal, Alzaidan, Hamad I., Seidahmed, Mohammed Z., Alhashemi, Nadia, Rawashdeh, Rifaat, Eyaid, Wafaa, Al‐Hassnan, Zuhair N., Rahbeeni, Zuhair, Alswaid, Abdulrahman, Hadid, Adnan, Qari, Alya, Mohammed, Dia A., El Khashab, Heba Y., Alfadhel, Majid, Abanemai, Mohammad, Sunbul, Rawda, Al Tala, Saeed, Alkhalifi, Salwa, Alkharfi, Turki, Abouelhoda, Mohamed, Monies, Dorota, Al Tassan, Nada, AlDubayan, Saud H., Kurdi, Wesam, Al‐Owain, Mohammed, Dasouki, Majed J., Kentab, Amal Y., Atyani, Suha, Makhseed, Nawal, Faqeih, Eissa, Shaheen, Ranad, Alkuraya, Fowzan S.

“…Defects in the peroxisomes biogenesis and/or function result in peroxisomal disorders. In this study, we describe the largest Arab cohort to date (72 families)…”
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Correction: Arterial tortuosity syndrome: 40 new families and literature review by Beyens, Aude, Albuisson, Juliette, Boel, Annekatrien, Al-Essa, Mazen, Al-Manea, Waheed, Bonnet, Damien, Bostan, Ozlem, Boute, Odile, Busa, Tiffany, Canham, Nathalie, Cil, Ergun, Coucke, Paul J., Cousin, Margot A., Dasouki, Majed, De Backer, Julie, De Paepe, Anne, De Schepper, Sofie, De Silva, Deepthi, Devriendt, Koenraad, De Wandele, Inge, Deyle, David R., Dietz, Harry, Dupuis-Girod, Sophie, Fontenot, Eudice, Fischer-Zirnsak, Björn, Gezdirici, Alper, Ghoumid, Jamal, Giuliano, Fabienne, Baena, Neus, Haider, Mohammed Z., Hardin, Joshua S., Jeunemaitre, Xavier, Klee, Eric W., Kornak, Uwe, Landecho, Manuel F., Legrand, Anne, Loeys, Bart, Lyonnet, Stanislas, Michael, Helen, Moceri, Pamela, Mohammed, Shehla, Muiño-Mosquera, Laura, Nampoothiri, Sheela, Pichler, Karin, Prescott, Katrina, Rajeb, Anna, Ramos-Arroyo, Maria, Rossi, Massimiliano, Salih, Mustafa, Seidahmed, Mohammed Z., Schaefer, Elise, Steichen-Gersdorf, Elisabeth, Temel, Sehime, Uysal, Fahrettin, Vanhomwegen, Marine, Van Laer, Lut, Van Maldergem, Lionel, Warner, David, Willaert, Andy, Collins II, Tom R., Taylor, Andrea, Davis, Elaine C., Zarate, Yuri, Callewaert, Bert

“…In the published version of this paper the author Neus Baena's name was incorrectly given as Neus Baena Diez. This has now been corrected in both the HTML and…”
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Epidemiology of neural tube defects by Seidahmed, Mohammed Z, Abdelbasit, Omar B, Shaheed, Meeralebbae M, Alhussein, Khalid A, Miqdad, Abeer M, Khalil, Mohamed I, Al-Enazy, Naif M, Salih, Mustafa A

“…To find the prevalence of neural tube defects (NTDs), and compare the findings with local and international data, and highlight the important role of folic…”
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Sirenomelia and severe caudal regression syndrome by Seidahmed, Mohammed Z, Abdelbasit, Omer B, Alhussein, Khalid A, Miqdad, Abeer M, Khalil, Mohammed I, Salih, Mustafa A

“…To describe cases of sirenomelia and severe caudal regression syndrome (CRS), to report the prevalence of sirenomelia, and compare our findings with the…”
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Neurologic injury in isolated sulfite oxidase deficiency by Bosley, Thomas M, Alorainy, Ibrahim A, Oystreck, Darren T, Hellani, Ali M, Seidahmed, Mohammed Z, Osman, Mohamed El Faki, Sabry, Mohamed A, Rashed, Mohamed S, Al-Yamani, Eiman A, Abu-Amero, Khaled K, Salih, Mustafa A

“…We review clinical, neuroimaging, and genetic information on six individuals with isolated sulfite oxidase deficiency (ISOD). All patients were examined, and…”
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Genetic, chromosomal, and syndromic causes of neural tube defects by Seidahmed, Mohammed Z, Abdelbasit, Omer B, Shaheed, Meeralebbae M, Alhussein, Khalid A, Miqdad, Abeer M, Samadi, Abdulmohsen S, Khalil, Mohammed I, Al-Mardawi, Elham, Salih, Mustafa A

“…To ascertain the incidence, and describe the various forms of neural tube defects (NTDs) due to genetic, chromosomal, and syndromic causes. We carried out a…”
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Infants of diabetic mothers. A cohort study by Lasheen, Abeer E, Abdelbasit, Omer B, Seidahmed, Mohammed Z, Hussein, Khalid A, Miqdad, Abeer M, Al Zahrani, Mohammed H, Farid, Gehan M, Badr, Haitham A

“…To determine the outcome of infants born to diabetic mothers at Security Forces Hospital, Riyadh, Saudi Arabia, and compare the complications seen in these…”
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Efficient identification of novel mutations in patients with limb girdle muscular dystrophy by Boyden, Steven E., Salih, Mustafa A., Duncan, Anna R., White, Alexander J., Estrella, Elicia A., Burgess, Stephanie L., Seidahmed, Mohammed Z., Al-Jarallah, Abdullah S., Alkhalidi, Hisham M. S., Al-Maneea, Waleed M., Bennett, Richard R., Alshemmari, Salem H., Kunkel, Louis M., Kang, Peter B.

“…Limb girdle muscular dystrophy type 2 (LGMD2) is a genetically heterogeneous autosomal recessive disorder caused by mutations in 15 known genes. DNA sequencing…”
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Brain stem and cerebellar findings in Joubert syndrome by Alorainy, Ibrahim A, Sabir, Sohail, Seidahmed, Mohammed Z, Farooqu, Hamid A, Salih, Mustafa A

“…Joubert syndrome is often missed clinically and radiologically if not enough attention is paid to its subtle and variable clinical presentation and the imaging…”
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