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Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Published in:
Frontiers in Molecular Biosciences, 2024, p. 01, doi. 10.3389/fmolb.2024.1451457
By:
- Akawi, Nadia;
- Al Mansoori, Ghadeera;
- Al Zaabi, Anwar;
- Badics, Andrea;
- Al Dhaheri, Noura;
- Al Shamsi, Aisha;
- Al Tenaiji, Amal;
- Alzohily, Bashar;
- Almesmari, Fatmah S. A.;
- Al Hammadi, Hamad;
- Al Dhahouri, Nahid;
- Irshaid, Manal;
- Kizhakkedath, Praseetha;
- Al Shibli, Fatema;
- Tabouni, Mohammed;
- Allam, Mushal;
- Baydoun, Ibrahim;
- Alblooshi, Hiba;
- Ali, Bassam R.;
- Foo, Roger S.
Publication type:
Article
A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement.
Published in:
Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0526-8
By:
- Akawi, Nadia A.;
- Ben-Salem, Salma;
- Hertecant, Jozef;
- John, Anne;
- Pramathan, Thachillath;
- Kizhakkedath, Praseetha;
- Ali, Bassam R.;
- Al-Gazali, Lihadh
Publication type:
Article
LINS, a modulator of the WNT signaling pathway, is involved in human cognition.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-87
By:
- Akawi, Nadia A.;
- Al-Jasmi, Fatma;
- Al-Shamsi, Aisha M.;
- Ali, Bassam R.;
- Al-Gazali, Lihadh
Publication type:
Article
LINS, a modulator of the WNT signaling pathway, is involved in human cognition.
Published in:
2013
By:
- Akawi, Nadia A;
- Al-Jasmi, Fatma;
- Al-Shamsi, Aisha M;
- Ali, Bassam R;
- Al-Gazali, Lihadh
Publication type:
journal article
A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.
Published in:
Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 27, doi. 10.1186/1750-1172-7-27
By:
- Ali, Bassam R;
- Silhavy, Jennifer L;
- Akawi, Nadia A;
- Glesson, Joseph G;
- Al-gazali, Lihadh
Publication type:
Article
Introducing and Implementing Genetic Assessment in Cardio-Obstetrics Clinical Practice: Clinical and Genetic Workup of Patients with Cardiomyopathy.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 11, p. 9119, doi. 10.3390/ijms24119119
By:
- 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
Publication type:
Article
A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2111, doi. 10.1002/ajmg.a.37741
By:
- Akawi, Nadia;
- Ben‐Salem, Salma;
- Lahti, Laura;
- Partanen, Juha;
- Ali, Bassam R.;
- Al‐Gazali, Lihadh
Publication type:
Article
Cover Image, Volume 170A, Number 8, August 2016.
Published in:
2016
By:
- Akawi, Nadia;
- Ben‐Salem, Salma;
- Lahti, Laura;
- Partanen, Juha;
- Ali, Bassam R.;
- Al‐Gazali, Lihadh
Publication type:
Other
Gonadal Mosaicism in ARID1B Gene Causes Intellectual Disability and Dysmorphic Features in Three Siblings.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 156, doi. 10.1002/ajmg.a.37405
By:
- Ben‐Salem, Salma;
- Sobreira, Nara;
- Akawi, Nadia A.;
- Al‐Shamsi, Aisha M.;
- John, Anne;
- Pramathan, Thachillath;
- Valle, David;
- Ali, Bassam R.;
- Al‐Gazali, Lihadh
Publication type:
Article
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
Published in:
Nature Genetics, 2015, v. 47, n. 11, p. 1363, doi. 10.1038/ng.3410
By:
- Foulds, Nicola;
- Akawi, Nadia;
- McRae, Jeremy;
- Clayton, Stephen;
- Fitzgerald, Tomas W;
- Gerety, Sebastian S;
- Jones, Wendy D;
- King, Daniel;
- Lelliott, Chris;
- Lord, Jenny;
- Piombo, Virginia;
- Prigmore, Elena;
- Rajan, Diana;
- Sifrim, Alejandro;
- Swaminathan, Ganesh J;
- Wright, Caroline F;
- Barrett, Jeffrey C;
- Hurles, Matthew E;
- Joss, Shelagh;
- O'Regan, Mary
Publication type:
Article
Identification of New Alleles and the Determination of Alleles and Genotypes Frequencies at the CYP2D6 Gene in Emiratis.
Published in:
PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0028943
By:
- Qumsieh, Rula Y.;
- Ali, Bassam R.;
- Abdulrazzaq, Yousef M.;
- Osman, Ossama;
- Akawi, Nadia A.;
- Bastaki, Salim M. A.
Publication type:
Article
Endoplasmic Reticulum Quality Control Is Involved in the Mechanism of Endoglin-Mediated Hereditary Haemorrhagic Telangiectasia.
Published in:
PLoS ONE, 2011, v. 6, n. 10, p. 1, doi. 10.1371/journal.pone.0026206
By:
- 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
Publication type:
Article
Effects of canagliflozin on human myocardial redox signalling: clinical implications.
Published in:
European Heart Journal, 2021, v. 42, n. 48, p. 4947, doi. 10.1093/eurheartj/ehab420
By:
- Kondo, Hidekazu;
- Akoumianakis, Ioannis;
- Badi, Ileana;
- Akawi, Nadia;
- Kotanidis, Christos P;
- Polkinghorne, Murray;
- Stadiotti, Ilaria;
- Sommariva, Elena;
- Antonopoulos, Alexios S;
- Carena, Maria C;
- Oikonomou, Evangelos K;
- Reus, Elsa Mauricio;
- Sayeed, Rana;
- Krasopoulos, George;
- Srivastava, Vivek;
- Farid, Shakil;
- Chuaiphichai, Surawee;
- Shirodaria, Cheerag;
- Channon, Keith M;
- Casadei, Barbara
Publication type:
Article
Circulating ceramide levels and ratios in Emirati youth under 18 years: associations with cardiometabolic risk factors.
Published in:
Lipids in Health & Disease, 2024, v. 23, n. 1, p. 1, doi. 10.1186/s12944-024-02080-6
By:
- Shalaby, Youssef M.;
- Al-Zohily, Bashar;
- Raj, Anjana;
- Yasin, Javed;
- Al Hamad, Sania;
- Antoniades, Charalambos;
- Akawi, Nadia;
- Aburawi, Elhadi H.
Publication type:
Article
Insulin-induced vascular redox dysregulation in human atherosclerosis is ameliorated by dipeptidyl peptidase 4 inhibition.
Published in:
Science Translational Medicine, 2020, v. 12, n. 541, p. 1, doi. 10.1126/scitranslmed.aav8824
By:
- Akoumianakis, Ioannis;
- Badi, Ileana;
- Douglas, Gillian;
- Chuaiphichai, Surawee;
- Herdman, Laura;
- Akawi, Nadia;
- Margaritis, Marios;
- Antonopoulos, Alexios S.;
- Oikonomou, Evangelos K.;
- Psarros, Costas;
- Galiatsatos, Nikolaos;
- Tousoulis, Dimitris;
- Kardos, Attila;
- Sayeed, Rana;
- Krasopoulos, George;
- Petrou, Mario;
- Schwahn, Uwe;
- Wohlfart, Paulus;
- Tennagels, Norbert;
- Channon, Keith M.
Publication type:
Article
Adipose tissue–derived WNT5A regulates vascular redox signaling in obesity via USP17/RAC1-mediated activation of NADPH oxidases.
Published in:
Science Translational Medicine, 2019, v. 11, n. 510, p. 1, doi. 10.1126/scitranslmed.aav5055
By:
- Akoumianakis, Ioannis;
- Sanna, Fabio;
- Margaritis, Marios;
- Badi, Ileana;
- Akawi, Nadia;
- Herdman, Laura;
- Coutinho, Patricia;
- Fagan, Harry;
- Antonopoulos, Alexios S.;
- Oikonomou, Evangelos K.;
- Thomas, Sheena;
- Chiu, Amy P.;
- Chuaiphichai, Surawee;
- Kotanidis, Christos P.;
- Christodoulides, Constantinos;
- Petrou, Mario;
- Krasopoulos, George;
- Sayeed, Rana;
- Lv, Lei;
- Hale, Ashley
Publication type:
Article
Bi‐allelic null variant in matrix metalloproteinase‐15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive.
Published in:
Clinical Genetics, 2022, v. 101, n. 4, p. 403, doi. 10.1111/cge.14107
By:
- Abdelrahman, Hanadi A.;
- Akawi, Nadia;
- Al‐Shamsi, Aisha M.;
- Ali, Amanat;
- Al‐Jasmi, Fatma;
- John, Anne;
- Hertecant, Jozef;
- Al‐Gazali, Lihadh;
- Ali, Bassam R.
Publication type:
Article
Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations.
Published in:
Molecular & Cellular Biochemistry, 2013, v. 373, n. 1/2, p. 247, doi. 10.1007/s11010-012-1496-3
By:
- Hume, Alistair;
- John, Anne;
- Akawi, Nadia;
- Al-Awadhi, Aydah;
- Al-Suwaidi, Sarah;
- Al-Gazali, Lihadh;
- Ali, Bassam
Publication type:
Article
METTL23, a transcriptional partner of GABPA, is essential for human cognition.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 13, p. 3456, doi. 10.1093/hmg/ddu054
By:
- Reiff, Rachel E.;
- Ali, Bassam R.;
- Baron, Byron;
- Yu, Timothy W.;
- Ben-Salem, Salma;
- Coulter, Michael E.;
- Schubert, Christian R.;
- Hill, R. Sean;
- Akawi, Nadia A.;
- Al-Younes, Banan;
- Kaya, Namik;
- Evrony, Gilad D.;
- Al-Saffar, Muna;
- Felie, Jillian M.;
- Partlow, Jennifer N.;
- Sunu, Christine M.;
- Schembri-Wismayer, Pierre;
- Alkuraya, Fowzan S.;
- Meyer, Brian F.;
- Walsh, Christopher A.
Publication type:
Article
Etoricoxib as a treatment of choice for patients with SLCO2A1 mutation exhibiting autosomal recessive primary hypertrophic osteoarthropathy: A case report.
Published in:
Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.1053999
By:
- Albawa’neh, Areej;
- Al Mansoori, Mariam Ghareeb;
- Diab, Sehriban;
- Al Jasmi, Fatma;
- Akawi, Nadia
Publication type:
Article
Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1236, doi. 10.1002/ajmg.a.34009
By:
- Akawi, Nadia A.;
- Ali, Bassam R.;
- Hamamy, Hanan;
- Al-Hadidy, Azmy;
- Al-Gazali, Lihadh
Publication type:
Article
Delineation of the Clinical, Molecular and Cellular Aspects of Novel JAM 3 Mutations Underlying the Autosomal Recessive Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts.
Published in:
Human Mutation, 2013, v. 34, n. 3, p. 498, doi. 10.1002/humu.22263
By:
- Akawi, Nadia A.;
- Canpolat, Fuat E.;
- White, Susan M.;
- Quilis‐Esquerra, Josep;
- Morales Sanchez, Martin;
- Gamundi, Maria José;
- Mochida, Ganeshwaran H.;
- Walsh, Christopher A.;
- Ali, Bassam R.;
- Al‐Gazali, Lihadh
Publication type:
Article
Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 11, p. 2239, doi. 10.1093/hmg/ddq103
By:
- Ali, Bassam R.;
- Xu, Huifang;
- Akawi, Nadia A.;
- John, Anne;
- Karuvantevida, Noushad S.;
- Langer, Ruth;
- Al-Gazali, Lihadh;
- Leitinger, Birgit
Publication type:
Article
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Published in:
Frontiers in Molecular Biosciences, 2024, p. 1, doi. 10.3389/fmolb.2024.1451457
By:
- Akawi, Nadia;
- Al Mansoori, Ghadeera;
- Al Zaabi, Anwar;
- Badics, Andrea;
- Al Dhaheri, Noura;
- Al Shamsi, Aisha;
- Al Tenaiji, Amal;
- Alzohily, Bashar;
- Almesmari, Fatmah S. A.;
- Al Hammadi, Hamad;
- Al Dhahouri, Nahid;
- Irshaid, Manal;
- Kizhakkedath, Praseetha;
- Al Shibli, Fatema;
- Tabouni, Mohammed;
- Allam, Mushal;
- Baydoun, Ibrahim;
- Alblooshi, Hiba;
- Ali, Bassam R.;
- Foo, Roger S.
Publication type:
Article
The contribution of X-linked coding variation to severe developmental disorders.
Published in:
Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-020-20852-3
By:
- Martin, Hilary C.;
- Gardner, Eugene J.;
- Samocha, Kaitlin E.;
- Kaplanis, Joanna;
- Akawi, Nadia;
- Sifrim, Alejandro;
- Eberhardt, Ruth Y.;
- Tavares, Ana Lisa Taylor;
- Neville, Matthew D. C.;
- Niemi, Mari E. K.;
- Gallone, Giuseppe;
- McRae, Jeremy;
- Deciphering Developmental Disorders Study;
- Borras, Silvia;
- Clark, Caroline;
- Dean, John;
- Miedzybrodzka, Zosia;
- Ross, Alison;
- Tennant, Stephen;
- Dabir, Tabib
Publication type:
Article
Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.
Published in:
BMC Medical Genetics, 2010, v. 11, p. 33, doi. 10.1186/1471-2350-11-33
By:
- Ali, Bassam R.;
- Akawi, Nadia A.;
- Chedid, Faris;
- Bakir, Mahmood;
- Ur Rehman, Moghis;
- Rahmani, Aiman;
- Al-Gazali, Lihadh
Publication type:
Article

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