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31 results for Akawi,+Nadia

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ArticlesPeer ReviewedFull Text
Quantifying the contribution of recessive coding variation to developmental disorders
Author / Creator:Martin, Hilary C ; Jones, Wendy D ; McIntyre, Rebecca ; Sanchez-Andrade, Gabriela ; Sanderson, Mark ; Stephenson, James D ; Jones, Carla P ; Handsaker, Juliet ; Gallone, Giuseppe ; Bruntraeger, Michaela ; McRae, Jeremy F ; Prigmore, Elena ; Short, Patrick ; Niemi, Mari ; Kaplanis, Joanna ; Radford, Elizabeth J ; Akawi, Nadia ; Balasubramanian, Meena ; Dean, John ; Horton, Rachel ; Hulbert, Alice ; Johnson, Diana S ; Johnson, Katie ; Kumar, Dhavendra ; Lynch, Sally Ann ; Mehta, Sarju G ; Morton, Jenny ; Parker, Michael J ; Splitt, Miranda ; Turnpenny, Peter D ; Vasudevan, Pradeep C ; Wright, Michael ; Bassett, Andrew ; Gerety, Sebastian S ; Wright, Caroline F ; FitzPatrick, David R ; Firth, Helen V ; Hurles, Matthew E ; Barrett, Jeffrey C
Publisher:United States: The American Association for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 2018-12, Vol.362 (6419), p.1161-1164
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Circulating ceramide levels and ratios in Emirati youth under 18 years: associations with cardiometabolic risk factors
Author / Creator:Shalaby, Youssef M ; Al-Zohily, Bashar ; Raj, Anjana ; Yasin, Javed ; Al Hamad, Sania ; Antoniades, Charalambos ; Akawi, Nadia ; Aburawi, Elhadi H
Publisher:England: BioMed Central Ltd
Journal title:Lipids in health and disease, 2024-04, Vol.23 (1), p.93-93, Article 93
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Identification of new alleles and the determination of alleles and genotypes frequencies at the CYP2D6 gene in Emiratis
Author / Creator:Qumsieh, Rula Y ; Ali, Bassam R ; Abdulrazzaq, Yousef M ; Osman, Ossama ; Akawi, Nadia A ; Bastaki, Salim M A
Publisher:United States: Public Library of Science
Journal title:PloS one, 2011-12, Vol.6 (12), p.e28943-e28943
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A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance
Author / Creator:Ali, Bassam R ; Silhavy, Jennifer L ; Akawi, Nadia A ; Gleeson, Joseph G ; Al-Gazali, Lihadh
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2012-05, Vol.7 (1), p.27-27, Article 27
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A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement
Author / Creator:Akawi, Nadia A ; Ben-Salem, Salma ; Hertecant, Jozef ; John, Anne ; Pramathan, Thachillath ; Kizhakkedath, Praseetha ; Ali, Bassam R ; Al-Gazali, Lihadh
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2016-10, Vol.11 (1), p.139-139, Article 139
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Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia
Author / Creator:Ali, Bassam R ; Ben-Rebeh, Imen ; John, Anne ; Akawi, Nadia A ; Milhem, Reham M ; Al-Shehhi, Nouf A ; Al-Ameri, Mouza M ; Al-Shamisi, Shamma A ; Al-Gazali, Lihadh
Publisher:United States: Public Library of Science
Journal title:PloS one, 2011-10, Vol.6 (10), p.e26206-e26206
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Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy
Author / Creator:Ben-Salem, Salma ; Robbins, Sarah M ; LM Sobreira, Nara ; Lyon, Angeline ; Al-Shamsi, Aisha M ; Islam, Barira K ; Akawi, Nadia A ; John, Anne ; Thachillath, Pramathan ; Al Hamed, Sania ; Valle, David ; Ali, Bassam R ; Al-Gazali, Lihadh
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2018-02, Vol.55 (2), p.122-130
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LINS, a modulator of the WNT signaling pathway, is involved in human cognition
Author / Creator:Akawi, Nadia A ; Al-Jasmi, Fatma ; Al-Shamsi, Aisha M ; Ali, Bassam R ; Al-Gazali, Lihadh
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2013-06, Vol.8 (1), p.87-87, Article 87
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Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations
Author / Creator:Hume, Alistair N. ; John, Anne ; Akawi, Nadia A. ; Al-Awadhi, Aydah M. ; Al-Suwaidi, Sarah S. ; Al-Gazali, Lihadh ; Ali, Bassam R.
Publisher:Boston: Springer US
Journal title:Molecular and cellular biochemistry, 2013-01, Vol.373 (1-2), p.247-257
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Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates
Author / Creator:Ali, Bassam R ; Akawi, Nadia A ; Chedid, Faris ; Bakir, Mahmood ; Ur Rehman, Moghis ; Rahmani, Aiman ; Al-Gazali, Lihadh
Publisher:England: BioMed Central Ltd
Journal title:BMC genetics, 2010-02, Vol.11 (1), p.33-33, Article 33
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BS1 Adipose tissue derived ceramides regulate myocardial redox state and predict cardiovascular outcomes
Author / Creator:Polkinghorne, Murray ; Akawi, Nadia ; Badi, Ileana ; Checa, Antonio ; Kotanidis, Christos ; Akoumianakis, Ioannis ; Antonopoulos, Alexios ; Krasopoulos, George ; Sayeed, Rana ; Walcot, Nicholas ; Channon, Keith M ; Wheelock, Craig ; Antoniades, Charalambos
Publisher:London: BMJ Publishing Group Ltd and British Cardiovascular Society
Journal title:Heart (British Cardiac Society), 2022-06, Vol.108 (Suppl 1), p.A143-A144
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BS32 Untargeted metabolomics interrogation of adipose tissue secretome from participants of the oxford cohort for heart, vessels & fat highlighted ceramides as potential adipokines modulating vascular...
Author / Creator:Akawi, Nadia ; Checa, Antonio ; Kotanidis, Christos ; Akoumianakis, Ioannis ; Daskalakis, Evangelia ; Wheelock, Craig ; Antoniades, Charalambos
Publisher:London: BMJ Publishing Group LTD
Journal title:Heart (British Cardiac Society), 2019-05, Vol.105 (Suppl 6), p.A161
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Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
Author / Creator:Akawi, Nadia ; McRae, Jeremy ; Ansari, Morad ; Balasubramanian, Meena ; Blyth, Moira ; Brady, Angela F ; Clayton, Stephen ; Cole, Trevor ; Deshpande, Charu ; Fitzgerald, Tomas W ; Foulds, Nicola ; Francis, Richard ; Gabriel, George ; Gerety, Sebastian S ; Goodship, Judith ; Hobson, Emma ; Jones, Wendy D ; Joss, Shelagh ; King, Daniel ; Klena, Nikolai ; Kumar, Ajith ; Lees, Melissa ; Lelliott, Chris ; Lord, Jenny ; McMullan, Dominic ; O'Regan, Mary ; Osio, Deborah ; Piombo, Virginia ; Prigmore, Elena ; Rajan, Diana ; Rosser, Elisabeth ; Sifrim, Alejandro ; Smith, Audrey ; Swaminathan, Ganesh J ; Turnpenny, Peter ; Whitworth, James ; Wright, Caroline F ; Firth, Helen V ; Barrett, Jeffrey C ; Lo, Cecilia W ; FitzPatrick, David R ; Hurles, Matthew E
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2015-11, Vol.47 (11), p.1363-1369
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Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus–CA3 projection
Author / Creator:Zhou, Wenjun ; He, Yanlin ; Rehman, Atteeq U ; Kong, Yan ; Hong, Sungguan ; Ding, Guolian ; Yalamanchili, Hari Krishna ; Wan, Ying-Wooi ; Paul, Basil ; Wang, Chuhan ; Gong, Yingyun ; Zhou, Wenxian ; Liu, Hao ; Dean, John ; Scalais, Emmanuel ; O’Driscoll, Mary ; Morton, Jenny E. V ; Hou, Xinguo ; Wu, Qi ; Tong, Qingchun ; Liu, Zhandong ; Liu, Pengfei ; Xu, Yong ; Sun, Zheng
Publisher:New York: Nature Publishing Group US
Journal title:Nature neuroscience, 2019-02, Vol.22 (2), p.205-217
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Very low calorie diets are associated with transient ventricular impairment before reversal of diastolic dysfunction in obesity
Author / Creator:Rayner, Jennifer J. ; Abdesselam, Ines ; Peterzan, Mark A. ; Akoumianakis, Ioannis ; Akawi, Nadia ; Antoniades, Charalambos ; Tomlinson, Jeremy W. ; Neubauer, Stefan ; Rider, Oliver J.
Publisher:London: Nature Publishing Group UK
Journal title:International Journal of Obesity, 2019-12, Vol.43 (12), p.2536-2544
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Introducing and Implementing Genetic Assessment in Cardio-Obstetrics Clinical Practice: Clinical and Genetic Workup of Patients with Cardiomyopathy
Author / Creator:Mansoori, Ghadeera Al ; Mahmeed, Wael Al ; Wani, Saleema ; Salih, Bashir Taha ; Ansari, Tarek El ; Farook, Fathima ; Farooq, Zenab ; Khair, Howaida ; Zaręba, Kornelia ; Dhahouri, Nahid Al ; Raj, Anjana ; Foo, Roger S ; Ali, Bassam R ; Jasmi, Fatma Al ; Akawi, Nadia
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2023-05, Vol.24 (11), p.9119
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Change in meticillin-resistant Staphylococcus aureus clones at a tertiary care hospital in the United Arab Emirates over a 5-year period
Author / Creator:Sonnevend, Ágnes ; Blair, Iain ; Alkaabi, Mohammed ; Jumaa, Pauline ; al Haj, Mohammed ; Ghazawi, Akela ; Akawi, Nadia ; Jouhar, Fatima Saeed ; Hamadeh, Mohammad Baraa ; Pál, Tibor
Publisher:London: BMJ Publishing Group Ltd and Association of Clinical Pathologists
Journal title:Journal of clinical pathology, 2012-02, Vol.65 (2), p.178-182
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ReportsFull Text
Introducing and Implementing Genetic Assessment in Cardio-Obstetrics Clinical Practice: Clinical and Genetic Workup of Patients with Cardiomyopathy
Author / Creator:Mansoori, Ghadeera Al ; Mahmeed, Wael Al ; Wani, Saleema ; Salih, Bashir Taha ; Ansari, Tarek El ; Farook, Fathima ; Farooq, Zenab ; Khair, Howaida ; Zaręba, Kornelia ; Dhahouri, Nahid Al ; Raj, Anjana ; Foo, Roger S ; Ali, Bassam R ; Jasmi, Fatma Al ; Akawi, Nadia
Publisher:MDPI AG
Journal title:International Journal of Molecular Sciences, 2023, Vol.24 (11)
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ArticlesPeer ReviewedFull Text
Prevalence and architecture of de novo mutations in developmental disorders
Author / Creator:McRae, Jeremy F ; Clayton, Stephen ; Mason, Laura E ; Tivey, Adrian R ; Ahmed, Munaza ; Awada, Jana ; Balasubramanian, Meena ; Banka, Siddharth ; Bennett, Chris ; Bernhard, Birgitta ; Bevan, A. Paul ; Blair, Edward ; Blyth, Moira ; Burn, John ; Castle, Bruce ; Clasper, Susan ; Collins, Amanda ; Collinson, Morag N ; Dabir, Tabib ; Davidson, Rosemarie ; Davies, Sally ; Dean, John ; Donnai, Dian ; Ellard, Sian ; Ellis, Ian ; Everest, Sarah ; Foulds, Nicola ; Fryer, Alan ; Gaunt, Lorraine ; Goudie, David ; Gray, Emma ; Greene, Philip ; Gribble, Susan ; Henderson, Alex ; Hildyard, Lucy ; Holden, Simon ; Holder, Muriel ; Ingram, Stuart ; Jackson, Andrew ; Kaemba, Beckie ; Kazembe, Sandra ; Kinning, Esther ; Kraus, Alison ; Kumar, V. K. Ajith ; Lachlan, Katherine ; Lam, Wayne ; Lim, Derek ; Longman, Cheryl ; Lynch, Sally A ; Maher, Eddy ; Maye, Una ; McKay, Kirsten ; McWilliam, Catherine ; Metcalfe, Kay ; Morgan, Sian ; Murday, Victoria ; Murphy, Helen ; Nemeth, Andrea ; Nevitt, Louise ; Newbury-Ecob, Ruth ; Park, Soo-Mi ; Paterson, Joan ; Payne, Stewart ; Perrett, Daniel ; Pratt, Norman ; Quarrell, Oliver ; Randall, Josh ; Rankin, Julia ; Raymond, Lucy ; Robert, Leema ; Roberts, Paul ; Saggar, Anand ; Samant, Shalaka ; Sampson, Julian ; Sandford, Richard ; Selby, Ann ; Sequeira, Cheryl ; Shearing, Emma ; Smith, Audrey ; Smith, Kath ; Splitt, Miranda ; Suri, Mohnish ; Sutton, Vivienne ; Tatton-Brown, Kate ; Temple, I. Karen ; Turner, Claire ; Varghese, Vinod ; Vasudevan, Pradeep ; Vogt, Julie ; Wakeling, Emma ; Wilcox, Sarah ; Williams, Denise ; Williams, Nicola ; Wilson, Louise ; Wright, Michael ; Yates, Laura ; Yau, Michael ; Wright, Caroline F ; FitzPatrick, David R ; Barrett, Jeffrey C
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2017-02, Vol.542 (7642), p.433-438
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ReportsFull Text
A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement
Author / Creator:Akawi, Nadia A ; Ben-Salem, Salma ; Hertecant, Jozef ; John, Anne ; Pramathan, Thachillath ; Kizhakkedath, Praseetha ; Ali, Bassam R ; Al-Gazali, Lihadh
Publisher:BioMed Central Ltd
Journal title:Orphanet Journal of Rare Diseases, 2016, Vol.11 (1)
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Quantifying the contribution of recessive coding variation to developmental disorders

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Circulating ceramide levels and ratios in Emirati youth under 18 years: associations with cardiometabolic risk factors

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Identification of new alleles and the determination of alleles and genotypes frequencies at the CYP2D6 gene in Emiratis

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A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

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A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

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Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia

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Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy

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LINS, a modulator of the WNT signaling pathway, is involved in human cognition

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Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations

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Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates

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BS1 Adipose tissue derived ceramides regulate myocardial redox state and predict cardiovascular outcomes

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BS32 Untargeted metabolomics interrogation of adipose tissue secretome from participants of the oxford cohort for heart, vessels & fat highlighted ceramides as potential adipokines modulating vascular...

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Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

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Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus–CA3 projection

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Very low calorie diets are associated with transient ventricular impairment before reversal of diastolic dysfunction in obesity

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Introducing and Implementing Genetic Assessment in Cardio-Obstetrics Clinical Practice: Clinical and Genetic Workup of Patients with Cardiomyopathy

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Change in meticillin-resistant Staphylococcus aureus clones at a tertiary care hospital in the United Arab Emirates over a 5-year period

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Introducing and Implementing Genetic Assessment in Cardio-Obstetrics Clinical Practice: Clinical and Genetic Workup of Patients with Cardiomyopathy

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Prevalence and architecture of de novo mutations in developmental disorders

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A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

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