Search Results - "Alshammari, Muneera J."

Mutations in MEOX1, Encoding Mesenchyme Homeobox 1, Cause Klippel-Feil Anomaly by Mohamed, Jawahir Y., Faqeih, Eissa, Alsiddiky, Abdulmonem, Alshammari, Muneera J., Ibrahim, Niema A., Alkuraya, Fowzan S.

“…Klippel-Feil syndrome (KFS) is a segmentation malformation of the cervical spine; clinically, it manifests as a short neck with reduced mobility and a low…”
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POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial Dwarfism by Shaheen, Ranad, Faqeih, Eissa, Shamseldin, Hanan E., Noche, Ramil R., Sunker, Asma, Alshammari, Muneera J., Al-Sheddi, Tarfa, Adly, Nouran, Al-Dosari, Mohammed S., Megason, Sean G., Al-Husain, Muneera, Al-Mohanna, Futwan, Alkuraya, Fowzan S.

“…Primordial dwarfism (PD) is a phenotype characterized by profound growth retardation that is prenatal in onset. Significant strides have been made in the last…”
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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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Mutations in C12orf57 Cause a Syndromic Form of Colobomatous Microphthalmia by Zahrani, Fatema, Aldahmesh, Mohammed A., Alshammari, Muneera J., Al-Hazzaa, Selwa A.F., Alkuraya, Fowzan S.

“…Microphthalmia is an important developmental eye disorder. Although mutations in several genes have been linked to this condition, they only account for a…”
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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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Genomic analysis of presumed perinatal stroke in Saudi Arabia reveals a strong monogenic contribution by Alshammari, Muneera J., Shamseldin, Hanan E., Essbaiheen, Fahad, Eltahir, Sara H., Alruwaili, Ashwag R., Abdulwahab, Firdous, Alkuraya, Fowzan S.

“…Perinatal stroke is associated with significant short- and long-term morbidity and has been recognized as the most common cause of cerebral palsy in term…”
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Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation by Shaheen, Ranad, Alazami, Anas M, Alshammari, Muneera J, Faqeih, Eissa, Alhashmi, Nadia, Mousa, Noon, Alsinani, Aisha, Ansari, Shinu, Alzahrani, Fatema, Al-Owain, Mohammed, Alzayed, Zayed S, Alkuraya, Fowzan S

“…Osteogenesis imperfecta (OI) is an hereditary bone disease in which increased bone fragility leads to frequent fractures and other complications, usually in an…”
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Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes by Yuan, Bo, Pehlivan, Davut, Karaca, Ender, Patel, Nisha, Charng, Wu-Lin, Gambin, Tomasz, Gonzaga-Jauregui, Claudia, Sutton, V Reid, Yesil, Gozde, Bozdogan, Sevcan Tug, Tos, Tulay, Koparir, Asuman, Koparir, Erkan, Beck, Christine R, Gu, Shen, Aslan, Huseyin, Yuregir, Ozge Ozalp, Al Rubeaan, Khalid, Alnaqeb, Dhekra, Alshammari, Muneera J, Bayram, Yavuz, Atik, Mehmed M, Aydin, Hatip, Geckinli, B Bilge, Seven, Mehmet, Ulucan, Hakan, Fenercioglu, Elif, Ozen, Mustafa, Jhangiani, Shalini, Muzny, Donna M, Boerwinkle, Eric, Tuysuz, Beyhan, Alkuraya, Fowzan S, Gibbs, Richard A, Lupski, James R

“…Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder that presents with extensive phenotypic variability, including facial dysmorphism,…”
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Weaver syndrome and defective cortical development: A rare association by Al-Salem, Ahmed, Alshammari, Muneera J., Hassan, Hamdy, Alazami, Anas M., Alkuraya, Fowzan S.

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Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus by Alshammari, Muneera J, Al-Otaibi, Lefian, Alkuraya, Fowzan S

“…Dyggve--Melchior--Clausen syndrome (DMC) is a chondrodysplasia that bears significant phenotypic resemblance to mucopolysaccharidosis type IV (Morquio…”
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The Syndrome of Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus (MMCAT) Is Caused by Mutations in ADAMTS18 by Aldahmesh, Mohammed A., Alshammari, Muneera J., Khan, Arif O., Mohamed, Jawahir Y., Alhabib, Fatimah A., Alkuraya, Fowzan S.

“…ABSTRACT One of us recently described an apparently novel ocular syndrome characterized by microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT)…”
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A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency by Shaheen, Ranad, Ansari, Shinu, Alshammari, Muneera J, Alkhalidi, Hisham, Alrukban, Hadeel, Eyaid, Wafaa, Alkuraya, Fowzan S

“…Numerous syndromic forms of intellectual disability have been described including those with abnormal sweating pattern. To describe the clinical and molecular…”
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Mutations in TMEM231 cause Meckel-Gruber syndrome by Shaheen, Ranad, Ansari, Shinu, Mardawi, Elham Al, Alshammari, Muneera J, Alkuraya, Fowzan S

“…Meckel-Gruber syndrome (MKS) is a genetically heterogeneous severe ciliopathy characterised by early lethality, occipital encephalocele, polydactyly, and…”
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Case report: A late and isolated presentation of meningoencephalomyelitis uncovers a novel pathogenic variant in the CIITA gene by Alosaimi, Mohammed F., Hamad, Muddathir H., AlShammari, Muneera J., Jamjoom, Dima Z., Musibeeh, Najd S.

“…BackgroundBare lymphocyte syndrome type II (BLS II) is a rare form of severe combined immunodeficiency caused by mutations in the CIITA gene, which regulates…”
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Molecular pathogenesis of fibrochondrogenesis: Is it really simple COL11A1 deficiency? by Alzahrani, Fatema, Alshammari, Muneera J., Alkuraya, Fowzan S.

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The clinical utility of rapid exome sequencing in a consanguineous population by Monies, Dorota, Goljan, Ewa, Assoum, Mirna, Albreacan, Muna, Binhumaid, Faisal, Subhani, Shazia, Boureggah, Abdulmlik, Hashem, Mais, Abdulwahab, Firdous, Abuyousef, Omar, Temsah, Mohamad H, Alsohime, Fahad, Kelaher, James, Abouelhoda, Mohamed, Meyer, Brian F, Alkuraya, Fowzan S

“…The clinical utility of exome sequencing is now well documented. Rapid exome sequencing (RES) is more resource-intensive than regular exome sequencing and is…”
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Weaver syndrome and defective cortical development: A rare association by Al‐Salem, Ahmed, Alshammari, Muneera J., Hassan, Hamdy, Alazami, Anas M., Alkuraya, Fowzan S.

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Case report: A late and isolated presentation of meningoencephalomyelitis uncovers a novel pathogenic variant in the CIITA gene by Alosaimi, Mohammed F, Hamad, Muddathir H, AlShammari, Muneera J, Jamjoom, Dima Z, Musibeeh, Najd S

“…BackgroundBare lymphocyte syndrome type II (BLS II) is a rare form of severe combined immunodeficiency caused by mutations in the CIITA gene, which regulates…”
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Molecular pathogenesis of fibrochondrogenesis: is it really simple COL11A1 deficiency? by Alzahrani, Fatema, Alshammari, Muneera J, Alkuraya, Fowzan S

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