Search Results - "Ansari, Shinu"

Genomic analysis of primordial dwarfism reveals novel disease genes by Shaheen, Ranad, Faqeih, Eissa, Ansari, Shinu, Abdel-Salam, Ghada, Al-Hassnan, Zuhair N, Al-Shidi, Tarfa, Alomar, Rana, Sogaty, Sameera, Alkuraya, Fowzan S

“…Primordial dwarfism (PD) is a disease in which severely impaired fetal growth persists throughout postnatal development and results in stunted adult size. The…”
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Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome by Shaheen, Ranad, Aglan, Mona, Keppler-Noreuil, Kim, Faqeih, Eissa, Ansari, Shinu, Horton, Kim, Ashour, Adel, Zaki, Maha S., Al-Zahrani, Fatema, Cueto-González, Anna M., Abdel-Salam, Ghada, Temtamy, Samia, Alkuraya, Fowzan S.

“…Adams-Oliver syndrome (AOS) is a rare, autosomal-dominant or -recessive disorder characterized primarily by aplasia cutis congenita and terminal transverse…”
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Mutations in CSPP1, Encoding a Core Centrosomal Protein, Cause a Range of Ciliopathy Phenotypes in Humans by Shaheen, Ranad, Shamseldin, Hanan E., Loucks, Catrina M., Seidahmed, Mohammed Zain, Ansari, Shinu, Ibrahim Khalil, Mohamed, Al-Yacoub, Nadya, Davis, Erica E., Mola, Natalie A., Szymanska, Katarzyna, Herridge, Warren, Chudley, Albert E., Chodirker, Bernard N., Schwartzentruber, Jeremy, Majewski, Jacek, Katsanis, Nicholas, Poizat, Coralie, Johnson, Colin A., Parboosingh, Jillian, Boycott, Kym M., Innes, A. Micheil, Alkuraya, Fowzan S.

“…Ciliopathies are characterized by a pattern of multisystem involvement that is consistent with the developmental role of the primary cilium. Within this…”
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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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A truncating mutation in B3GNT1 causes severe Walker–Warburg syndrome by Shaheen, Ranad, Faqeih, Eissa, Ansari, Shinu, Alkuraya, Fowzan S.

“…Walker–Warburg syndrome (WWS) is a genetically heterogeneous form of congenital muscular dystrophy with significant brain and ocular involvement. In a…”
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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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T (brachyury) is linked to a Mendelian form of neural tube defects in humans by Shaheen, Ranad, Alshail, Essam, Alaqeel, Ahmed, Ansari, Shinu, Hindieh, Farah, Alkuraya, Fowzan S.

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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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T by Shaheen, Ranad, Alshail, Essam, Alaqeel, Ahmed, Ansari, Shinu, Hindieh, Farah, Alkuraya, Fowzan S

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Pellagra-Like Syndrome Proves to Be a Variant of Xeroderma Pigmentosum-Cockayne Syndrome and Niacin Confers Clinical Benefit (S60.006) by Salih, Mustafa, Hijazi, Hadia, Hamad, Muddathir, Hassan, Hamdy, Ansari, Shinu, Alkuraya, Fowzan

“…Abstract only…”
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